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	TCGAscape_Amplification_Peaks	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_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	Oncotatorv0393GAF20hg19Feb2011dbSNPbuild132UniProtRelease2011_6	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	context_orig	context65	gene_name	categ	categ_ignoring_null_categ
LOXL4	84171	broad.mit.edu	37	10	100017495	100017495	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:100017495G>T	uc001kpa.1	-	c.1172C>A	c.(1171-1173)CCT>CAT	p.P391H		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	391	SRCR 3.				oxidation-reduction process	extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)	4		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)										0.348315	268.420385	273.830261	93	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100017495	100017495	9275	10	G	T	T	T	455	35	LOXL4	2	2
LZTS2	84445	broad.mit.edu	37	10	102763886	102763886	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102763886G>T	uc001ksj.2	+	c.1031G>T	c.(1030-1032)CGG>CTG	p.R344L	LZTS2_uc010qpw.1_Missense_Mutation_p.R344L|LZTS2_uc001ksk.2_Missense_Mutation_p.R344L|LZTS2_uc001ksl.2_Missense_Mutation_p.R344L|LZTS2_uc001ksm.2_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	344	Potential.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				ovary(2)|large_intestine(1)|breast(1)	4				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		Esophageal Squamous(8;38 437 13604 19902 37640)								0.327273	101.961881	104.872728	36	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102763886	102763886	9516	10	G	T	T	T	507	39	LZTS2	1	1
ELOVL3	83401	broad.mit.edu	37	10	103988649	103988649	+	Silent	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103988649A>T	uc001kut.2	+	c.453A>T	c.(451-453)ACA>ACT	p.T151T		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	elongation of very long chain fatty acids like	151					fatty acid elongation, monounsaturated fatty acid|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			ovary(2)	2		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)										0.303191	162.295141	168.799837	57	131	KEEP	---	---	---	---	capture		Silent	SNP	103988649	103988649	5267	10	A	T	T	T	80	7	ELOVL3	3	3
PSD	5662	broad.mit.edu	37	10	104173662	104173662	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104173662C>G	uc001kvg.1	-	c.1417G>C	c.(1417-1419)GCT>CCT	p.A473P	PSD_uc001kvh.1_Missense_Mutation_p.A94P|PSD_uc009xxd.1_Missense_Mutation_p.A473P	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	473					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)										0.349515	122.368874	124.427177	36	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104173662	104173662	13099	10	C	G	G	G	325	25	PSD	3	3
CALHM2	51063	broad.mit.edu	37	10	105209690	105209690	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105209690G>T	uc001kwz.2	-	c.9C>A	c.(7-9)GCC>GCA	p.A3A	CALHM2_uc001kxa.2_Silent_p.A3A|CALHM2_uc001kxc.2_Silent_p.A3A|CALHM2_uc001kxb.2_Silent_p.A3A|CALHM2_uc001kxd.1_Silent_p.A3A	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	3						integral to membrane					0														0.375758	173.195446	175.436102	62	103	KEEP	---	---	---	---	capture		Silent	SNP	105209690	105209690	2699	10	G	T	T	T	548	43	CALHM2	2	2
SORCS3	22986	broad.mit.edu	37	10	106802840	106802840	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106802840C>G	uc001kyi.1	+	c.982C>G	c.(982-984)CGG>GGG	p.R328G		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	328	BNR 3.|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)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		NSCLC(116;1497 1690 7108 13108 14106)								0.281938	216.415458	226.105712	64	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106802840	106802840	15432	10	C	G	G	G	243	19	SORCS3	3	3
C10orf82	143379	broad.mit.edu	37	10	118425181	118425181	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118425181G>T	uc001lcr.2	-	c.212C>A	c.(211-213)TCC>TAC	p.S71Y	C10orf82_uc001lcs.1_Missense_Mutation_p.S71Y	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN	hypothetical protein LOC143379	71											0				all cancers(201;0.0143)										0.425926	133.354519	133.865642	46	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118425181	118425181	1657	10	G	T	T	T	533	41	C10orf82	2	2
KCNK18	338567	broad.mit.edu	37	10	118960761	118960761	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118960761C>T	uc010qsr.1	+	c.315C>T	c.(313-315)AGC>AGT	p.S105S		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	105						integral to membrane|plasma membrane					0		Colorectal(252;0.19)		all cancers(201;0.0211)										0.365248	326.144683	330.650589	103	179	KEEP	---	---	---	---	capture		Silent	SNP	118960761	118960761	8370	10	C	T	T	T	363	28	KCNK18	2	2
ADAM12	8038	broad.mit.edu	37	10	127753557	127753557	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:127753557C>A	uc001ljk.2	-	c.1436G>T	c.(1435-1437)GGA>GTA	p.G479V	ADAM12_uc010qul.1_Missense_Mutation_p.G430V|ADAM12_uc001ljm.2_Missense_Mutation_p.G479V|ADAM12_uc001ljn.2_Missense_Mutation_p.G476V|ADAM12_uc001ljl.3_Missense_Mutation_p.G476V	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	479	Extracellular (Potential).|Disintegrin.		G -> E (in a breast cancer sample; somatic mutation).		cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.G479E(1)		breast(4)|ovary(2)|central_nervous_system(2)	8		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)						1070				0.176471	11.829897	15.183405	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127753557	127753557	237	10	C	A	A	A	390	30	ADAM12	2	2
GLRX3	10539	broad.mit.edu	37	10	131958334	131958334	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:131958334G>T	uc001lkm.1	+	c.276_splice	c.e3+1	p.K92_splice	GLRX3_uc001lkn.1_Splice_Site_SNP_p.K92_splice|GLRX3_uc001lko.2_Splice_Site_SNP	NM_006541	NP_006532			glutaredoxin 3						cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity				0		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)										0.369697	194.332718	196.794694	61	104	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	131958334	131958334	6729	10	G	T	T	T	572	44	GLRX3	5	2
UCMA	221044	broad.mit.edu	37	10	13264144	13264144	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:13264144C>A	uc001imd.2	-	c.376G>T	c.(376-378)GGC>TGC	p.G126C		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix	126						proteinaceous extracellular matrix					0														0.196721	27.165173	32.392632	12	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13264144	13264144	17484	10	C	A	A	A	299	23	UCMA	1	1
STK32C	282974	broad.mit.edu	37	10	134040418	134040418	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:134040418G>T	uc010quu.1	-	c.564C>A	c.(562-564)GGC>GGA	p.G188G	STK32C_uc001lld.1_Silent_p.G58G|STK32C_uc001lle.1_Silent_p.G175G|STK32C_uc009ybc.1_Silent_p.G58G|STK32C_uc009ybd.1_Silent_p.G58G|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_Non-coding_Transcript	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	175	Protein kinase.				protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(1)	3		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)						638				0.364706	91.425869	92.784196	31	54	KEEP	---	---	---	---	capture		Silent	SNP	134040418	134040418	15819	10	G	T	T	T	483	38	STK32C	1	1
CUBN	8029	broad.mit.edu	37	10	16873350	16873350	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:16873350G>T	uc001ioo.2	-	c.10429C>A	c.(10429-10431)CCT>ACT	p.P3477T		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3477	CUB 26.				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				0.278351	139.171261	147.744515	54	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16873350	16873350	4211	10	G	T	T	T	559	43	CUBN	2	2
CUBN	8029	broad.mit.edu	37	10	17169920	17169921	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17169920_17169921GG>AA	uc001ioo.2	-	c.255_256CC>TT	c.(253-258)ATCCAG>ATTTAG	p.Q86*		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	86					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				0.085714	2.812634	27.151988	12	128	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	17169920	17169921	4211	10	GG	AA	AA	AA	611	47	CUBN	5	2
ZMYND11	10771	broad.mit.edu	37	10	294355	294355	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:294355T>C	uc010pzt.1	+	c.1307T>C	c.(1306-1308)GTG>GCG	p.V436A	ZMYND11_uc001ifk.2_Missense_Mutation_p.V435A|ZMYND11_uc010pzu.1_Missense_Mutation_p.V436A|ZMYND11_uc010pzv.1_Missense_Mutation_p.V381A|ZMYND11_uc010pzw.1_Missense_Mutation_p.V351A|ZMYND11_uc001ifm.2_Missense_Mutation_p.V382A|ZMYND11_uc010pzx.1_Missense_Mutation_p.V436A|ZMYND11_uc001ifn.2_Missense_Mutation_p.V382A|ZMYND11_uc009xhg.2_Missense_Mutation_p.V419A|ZMYND11_uc009xhh.2_Missense_Mutation_p.V310A|ZMYND11_uc010pzy.1_Missense_Mutation_p.V288A	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	396					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)										0.303448	127.93579	132.941221	44	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	294355	294355	18297	10	T	C	C	C	767	59	ZMYND11	4	4
ZEB1	6935	broad.mit.edu	37	10	31810643	31810643	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31810643C>T	uc001ivu.3	+	c.2383C>T	c.(2383-2385)CCA>TCA	p.P795S	ZEB1_uc001ivr.3_Missense_Mutation_p.P576S|ZEB1_uc010qee.1_Missense_Mutation_p.P576S|ZEB1_uc010qef.1_Missense_Mutation_p.P576S|ZEB1_uc009xlj.1_Missense_Mutation_p.P720S|ZEB1_uc010qeg.1_Missense_Mutation_p.P653S|ZEB1_uc009xlk.1_Missense_Mutation_p.P576S|ZEB1_uc001ivs.3_Missense_Mutation_p.P794S|ZEB1_uc001ivt.3_Missense_Mutation_p.P576S|ZEB1_uc001ivv.3_Missense_Mutation_p.P774S|ZEB1_uc010qeh.1_Missense_Mutation_p.P727S|ZEB1_uc009xlo.1_Missense_Mutation_p.P777S|ZEB1_uc009xlp.2_Missense_Mutation_p.P778S	NM_030751	NP_001121600	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	794					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)								0.232877	90.995538	100.519064	34	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31810643	31810643	18211	10	C	T	T	T	286	22	ZEB1	2	2
DIP2C	22982	broad.mit.edu	37	10	409175	409175	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:409175C>T	uc001ifp.2	-	c.2554G>A	c.(2554-2556)GAA>AAA	p.E852K	DIP2C_uc009xhi.1_Missense_Mutation_p.E238K|DIP2C_uc010pzz.1_Missense_Mutation_p.E173K	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	852						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)						1018				0.3	49.721388	51.868988	18	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	409175	409175	4708	10	C	T	T	T	390	30	DIP2C	2	2
ALOX5	240	broad.mit.edu	37	10	45907644	45907644	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:45907644T>A	uc001jce.2	+	c.437T>A	c.(436-438)ATG>AAG	p.M146K	ALOX5_uc009xmt.2_Missense_Mutation_p.M146K|ALOX5_uc010qfg.1_Missense_Mutation_p.M146K	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	146	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)									0.094017	9.235278	28.612551	11	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45907644	45907644	543	10	T	A	A	A	663	51	ALOX5	3	3
PPYR1	5540	broad.mit.edu	37	10	47087209	47087209	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:47087209C>T	uc001jee.2	+	c.426C>T	c.(424-426)CTC>CTT	p.L142L	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.L142L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	142	Cytoplasmic (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)	1														0.114165	50.891511	120.36102	54	419	KEEP	---	---	---	---	capture		Silent	SNP	47087209	47087209	12852	10	C	T	T	T	366	29	PPYR1	2	2
FRMPD2	143162	broad.mit.edu	37	10	49444598	49444598	+	Splice_Site_SNP	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:49444598T>A	uc001jgi.2	-	c.922_splice	c.e9-1	p.F308_splice	FRMPD2_uc001jgh.2_Splice_Site_SNP_p.F277_splice|FRMPD2_uc001jgj.2_Splice_Site_SNP_p.F286_splice	NM_001018071	NP_001018081			FERM and PDZ domain containing 2 isoform 3						tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)										0.090909	6.134257	20.977329	8	80	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	49444598	49444598	6308	10	T	A	A	A	715	55	FRMPD2	5	3
A1CF	29974	broad.mit.edu	37	10	52580401	52580401	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:52580401C>G	uc010qho.1	-	c.802G>C	c.(802-804)GAG>CAG	p.E268Q	A1CF_uc010qhn.1_Missense_Mutation_p.E268Q|A1CF_uc001jji.2_Missense_Mutation_p.E260Q|A1CF_uc001jjj.2_Missense_Mutation_p.E260Q|A1CF_uc001jjh.2_Missense_Mutation_p.E268Q|A1CF_uc009xov.2_Missense_Mutation_p.E260Q	NM_138933	NP_620311	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 3	260	RRM 3.				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														0.106195	17.611031	35.016473	12	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52580401	52580401	2	10	C	G	G	G	390	30	A1CF	3	3
TET1	80312	broad.mit.edu	37	10	70446412	70446412	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70446412G>T	uc001jok.3	+	c.5352G>T	c.(5350-5352)AAG>AAT	p.K1784N		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1784					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				0.12766	23.254464	42.311382	18	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70446412	70446412	16296	10	G	T	T	T	425	33	TET1	2	2
TET1	80312	broad.mit.edu	37	10	70450858	70450858	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70450858G>T	uc001jok.3	+	c.5698G>T	c.(5698-5700)GGC>TGC	p.G1900C		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1900					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				0.115942	18.796677	38.839058	16	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70450858	70450858	16296	10	G	T	T	T	611	47	TET1	2	2
KIAA1274	27143	broad.mit.edu	37	10	72293678	72293678	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72293678G>T	uc001jrd.3	+	c.871G>T	c.(871-873)GAG>TAG	p.E291*		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	291										ovary(2)|central_nervous_system(1)	3														0.088235	1.193968	18.685278	9	93	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72293678	72293678	8529	10	G	T	T	T	533	41	KIAA1274	5	2
UNC5B	219699	broad.mit.edu	37	10	73047403	73047403	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73047403G>T	uc001jro.2	+	c.782G>T	c.(781-783)CGC>CTC	p.R261L	UNC5B_uc001jrp.2_Missense_Mutation_p.R261L	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	261	TSP type-1 1.|Extracellular (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3														0.120805	18.423708	39.530798	18	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73047403	73047403	17550	10	G	T	T	T	494	38	UNC5B	1	1
USP54	159195	broad.mit.edu	37	10	75290091	75290091	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75290091C>T	uc001juo.2	-	c.1638G>A	c.(1636-1638)AGG>AGA	p.R546R	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_Non-coding_Transcript|USP54_uc001jun.2_Non-coding_Transcript|USP54_uc001jup.2_Silent_p.R546R|USP54_uc010qkl.1_Silent_p.R546R	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	546					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)								0.140845	33.402278	51.080527	20	122	KEEP	---	---	---	---	capture		Silent	SNP	75290091	75290091	17649	10	C	T	T	T	389	30	USP54	2	2
MYST4	23522	broad.mit.edu	37	10	76736089	76736089	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:76736089G>T	uc001jwn.1	+	c.1993_splice	c.e8+1	p.D665_splice	MYST4_uc001jwm.1_Intron|MYST4_uc001jwo.1_Intron|MYST4_uc001jwp.1_Intron	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)									319				0.177966	50.601556	62.12326	21	97	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	76736089	76736089	10500	10	G	T	T	T	572	44	MYST4	5	2
ITIH2	3698	broad.mit.edu	37	10	7763676	7763676	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7763676C>T	uc001ijs.2	+	c.803C>T	c.(802-804)GCG>GTG	p.A268V		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	268					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.123016	35.249722	70.309884	31	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7763676	7763676	8208	10	C	T	T	T	351	27	ITIH2	1	1
ITIH2	3698	broad.mit.edu	37	10	7773794	7773794	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7773794C>A	uc001ijs.2	+	c.1482C>A	c.(1480-1482)TCC>TCA	p.S494S		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	494					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.084656	5.152196	38.239241	16	173	KEEP	---	---	---	---	capture		Silent	SNP	7773794	7773794	8208	10	C	A	A	A	262	21	ITIH2	2	2
LRIT2	340745	broad.mit.edu	37	10	85982088	85982089	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:85982088_85982089CC>AA	uc010qmc.1	-	c.1270_1271GG>TT	c.(1270-1272)GGA>TTA	p.G424L	LRIT2_uc001kcy.2_Missense_Mutation_p.G414L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	leucine rich repeat containing 22 precursor	414	Fibronectin type-III.					integral to membrane				ovary(2)	2														0.413934	303.029634	304.608122	101	143	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	85982088	85982089	9321	10	CC	AA	AA	AA	390	30	LRIT2	2	2
GRID1	2894	broad.mit.edu	37	10	87628799	87628799	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:87628799C>A	uc001kdl.1	-	c.919G>T	c.(919-921)GAC>TAC	p.D307Y	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	307	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)			0.438596	226.403298	226.964064	75	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87628799	87628799	7049	10	C	A	A	A	403	31	GRID1	1	1
LIPK	643414	broad.mit.edu	37	10	90486557	90486557	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:90486557G>C	uc010qmv.1	+	c.111G>C	c.(109-111)CAG>CAC	p.Q37H		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	lipase, family member K precursor	37					lipid catabolic process	extracellular region	hydrolase activity			ovary(2)	2		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)										0.423077	39.421157	39.555375	11	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90486557	90486557	9154	10	G	C	C	C	425	33	LIPK	3	3
LIPK	643414	broad.mit.edu	37	10	90499787	90499787	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:90499787C>T	uc010qmv.1	+	c.851C>T	c.(850-852)GCG>GTG	p.A284V		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	lipase, family member K precursor	284					lipid catabolic process	extracellular region	hydrolase activity			ovary(2)	2		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)										0.432836	175.033638	175.559603	58	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90499787	90499787	9154	10	C	T	T	T	351	27	LIPK	1	1
PDE6C	5146	broad.mit.edu	37	10	95425130	95425130	+	Silent	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95425130A>T	uc001kiu.3	+	c.2532A>T	c.(2530-2532)TCA>TCT	p.S844S		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	844					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)	3		Colorectal(252;0.123)												0.202186	91.170256	106.249044	37	146	KEEP	---	---	---	---	capture		Silent	SNP	95425130	95425130	12068	10	A	T	T	T	80	7	PDE6C	3	3
PLCE1	51196	broad.mit.edu	37	10	96005857	96005858	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96005857_96005858CA>AG	uc001kjk.2	+	c.2575_2576CA>AG	c.(2575-2577)CAG>AGG	p.Q859R	PLCE1_uc010qnx.1_Missense_Mutation_p.Q859R|PLCE1_uc001kjm.2_Missense_Mutation_p.Q551R	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	859					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)												0.346939	100.640037	102.657739	34	64	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	96005857	96005858	12460	10	CA	AG	AG	AG	273	21	PLCE1	2	2
SLIT1	6585	broad.mit.edu	37	10	98802742	98802742	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98802742C>T	uc001kmw.2	-	c.2080G>A	c.(2080-2082)GGG>AGG	p.G694R	SLIT1_uc009xvh.1_Missense_Mutation_p.G704R	NM_003061	NP_003052	O75093	SLIT1_HUMAN	slit homolog 1 precursor	694	LRRCT 3.				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)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)										0.210526	38.855024	44.751888	16	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98802742	98802742	15237	10	C	T	T	T	286	22	SLIT1	2	2
AP2A2	161	broad.mit.edu	37	11	1009345	1009345	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1009345A>T	uc001lss.2	+	c.2555A>T	c.(2554-2556)CAG>CTG	p.Q852L		NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	852					axon guidance|endocytosis|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|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)										0.269231	39.327235	41.825849	14	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1009345	1009345	750	11	A	T	T	T	91	7	AP2A2	3	3
KIAA1377	57562	broad.mit.edu	37	11	101786030	101786030	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:101786030G>T	uc001pgm.2	+	c.15G>T	c.(13-15)AGG>AGT	p.R5S	ANGPTL5_uc001pgl.2_Intron	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	5							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)		BRCA - Breast invasive adenocarcinoma(274;0.038)										0.436975	129.436172	129.853707	52	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101786030	101786030	8536	11	G	T	T	T	542	42	KIAA1377	2	2
GRIA4	2893	broad.mit.edu	37	11	105804494	105804494	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:105804494C>A	uc001pix.2	+	c.2093C>A	c.(2092-2094)TCA>TAA	p.S698*	GRIA4_uc001piw.2_Nonsense_Mutation_p.S698*|GRIA4_uc010rvm.1_Non-coding_Transcript|GRIA4_uc009yxl.1_Non-coding_Transcript	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	698	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)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)									0.106383	3.837899	11.071718	5	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	105804494	105804494	7048	11	C	A	A	A	377	29	GRIA4	5	2
MUC2	4583	broad.mit.edu	37	11	1077683	1077683	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1077683C>A	uc001lsx.1	+	c.433C>A	c.(433-435)CTC>ATC	p.L145I		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	145	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)									0.285714	25.732689	27.176806	10	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1077683	1077683	10369	11	C	A	A	A	312	24	MUC2	2	2
DSCAML1	57453	broad.mit.edu	37	11	117387251	117387251	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117387251C>A	uc001prh.1	-	c.1894G>T	c.(1894-1896)GAG>TAG	p.E632*		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	572	Extracellular (Potential).|Ig-like C2-type 6.				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)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)										0.423358	153.827402	154.501293	58	79	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	117387251	117387251	4953	11	C	A	A	A	390	30	DSCAML1	5	2
OR4D5	219875	broad.mit.edu	37	11	123810656	123810656	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123810656G>T	uc001pzk.1	+	c.333G>T	c.(331-333)AAG>AAT	p.K111N		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)										0.353211	210.283085	214.436441	77	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123810656	123810656	11464	11	G	T	T	T	425	33	OR4D5	2	2
VWA5A	4013	broad.mit.edu	37	11	124007382	124007382	+	Splice_Site_SNP	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124007382G>C	uc001pzu.2	+	c.1625_splice	c.e14+1	p.N542_splice	VWA5A_uc001pzt.2_Splice_Site_SNP_p.N542_splice	NM_001130142	NP_001123614			BCSC-1 isoform 1											ovary(1)	1														0.093897	23.013121	58.404725	20	193	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	124007382	124007382	17811	11	G	C	C	C	468	36	VWA5A	5	3
OR8B12	219858	broad.mit.edu	37	11	124413479	124413479	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124413479G>T	uc010sam.1	-	c.72C>A	c.(70-72)ATC>ATA	p.I24I		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	24	Extracellular (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)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)										0.339286	196.214694	201.337735	76	148	KEEP	---	---	---	---	capture		Silent	SNP	124413479	124413479	11637	11	G	T	T	T	525	41	OR8B12	2	2
PKNOX2	63876	broad.mit.edu	37	11	125299921	125299921	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:125299921C>A	uc001qbu.2	+	c.1076C>A	c.(1075-1077)GCC>GAC	p.A359D	PKNOX2_uc010saz.1_Missense_Mutation_p.A330D|PKNOX2_uc010sba.1_Missense_Mutation_p.A330D|PKNOX2_uc010sbb.1_Missense_Mutation_p.A295D|PKNOX2_uc001qbv.2_Missense_Mutation_p.A124D	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	359						nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)										0.097065	24.349334	96.274224	43	400	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125299921	125299921	12408	11	C	A	A	A	338	26	PKNOX2	2	2
KIRREL3	84623	broad.mit.edu	37	11	126306857	126306857	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:126306857G>A	uc001qea.2	-	c.1401C>T	c.(1399-1401)CGC>CGT	p.R467R	KIRREL3_uc001qeb.2_Silent_p.R467R|KIRREL3_uc001qec.1_Silent_p.R467R|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	467	Extracellular (Potential).|Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			ovary(3)	3	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)										0.409091	51.860712	52.172532	18	26	KEEP	---	---	---	---	capture		Silent	SNP	126306857	126306857	8638	11	G	A	A	A	431	34	KIRREL3	2	2
INSC	387755	broad.mit.edu	37	11	15243085	15243085	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:15243085G>T	uc001mly.2	+	c.1023G>T	c.(1021-1023)CGG>CGT	p.R341R	INSC_uc001mlz.2_Silent_p.R294R|INSC_uc001mma.2_Silent_p.R294R|INSC_uc010rcs.1_Silent_p.R329R|INSC_uc001mmb.2_Silent_p.R294R|INSC_uc001mmc.2_Silent_p.R252R	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN	inscuteable isoform a	341					cell differentiation|nervous system development	cytoplasm	binding			ovary(2)|central_nervous_system(1)	3														0.302326	68.21616	71.217661	26	60	KEEP	---	---	---	---	capture		Silent	SNP	15243085	15243085	8065	11	G	T	T	T	548	43	INSC	2	2
KRTAP5-5	439915	broad.mit.edu	37	11	1651332	1651332	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1651332G>T	uc001lty.2	+	c.262G>T	c.(262-264)GGC>TGC	p.G88C		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	88	8 X 4 AA repeats of C-C-X-P.					keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)										0.126506	50.227789	95.348874	42	290	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1651332	1651332	8886	11	G	T	T	T	559	43	KRTAP5-5	2	2
MRGPRX3	117195	broad.mit.edu	37	11	18159297	18159297	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18159297G>A	uc001mnu.2	+	c.548G>A	c.(547-549)TGG>TAG	p.W183*		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	183	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2														0.157895	52.3053	71.399069	27	144	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	18159297	18159297	10161	11	G	A	A	A	611	47	MRGPRX3	5	2
PTPN5	84867	broad.mit.edu	37	11	18754824	18754824	+	Silent	SNP	C	A	A	rs116891792	by1000genomes	TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18754824C>A	uc001mpd.2	-	c.1176G>T	c.(1174-1176)ACG>ACT	p.T392T	PTPN5_uc001mpb.2_Silent_p.T360T|PTPN5_uc001mpc.2_Silent_p.T392T|PTPN5_uc001mpe.2_Silent_p.T360T|PTPN5_uc010rdj.1_Silent_p.T336T|PTPN5_uc001mpf.2_Silent_p.T368T|PTPN5_uc010rdk.1_Silent_p.T337T	NM_006906	NP_008837	P54829	PTN5_HUMAN	protein-tyrosine-phosphatase non-receptor 5	392	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(2)	2														0.196429	48.182528	57.735415	22	90	KEEP	---	---	---	---	capture		Silent	SNP	18754824	18754824	13248	11	C	A	A	A	340	27	PTPN5	1	1
SLC6A5	9152	broad.mit.edu	37	11	20628585	20628585	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20628585G>T	uc001mqd.2	+	c.712G>T	c.(712-714)GCT>TCT	p.A238S	SLC6A5_uc009yic.2_Missense_Mutation_p.A3S	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter	238	Helical; Name=2; (Potential).				synaptic transmission	integral to plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(2)|breast(1)	3					Glycine(DB00145)									0.27027	107.032417	114.079878	40	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20628585	20628585	15184	11	G	T	T	T	546	42	SLC6A5	2	2
TH	7054	broad.mit.edu	37	11	2185532	2185532	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:2185532C>A	uc001lvq.2	-	c.1518G>T	c.(1516-1518)GTG>GTT	p.V506V	TH_uc001lvp.2_Silent_p.V502V|TH_uc001lvr.2_Silent_p.V475V|TH_uc010qxj.1_Silent_p.V479V|TH_uc001lvs.2_Silent_p.V381V|TH_uc001lvt.2_Silent_p.V385V	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	506					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|oxidation-reduction process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)									0.313253	68.804565	71.389899	26	57	KEEP	---	---	---	---	capture		Silent	SNP	2185532	2185532	16366	11	C	A	A	A	314	25	TH	2	2
GAS2	2620	broad.mit.edu	37	11	22707259	22707259	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22707259G>T	uc009yie.2	+	c.191G>T	c.(190-192)GGT>GTT	p.G64V	GAS2_uc001mqm.2_Missense_Mutation_p.G64V|GAS2_uc001mqn.2_Non-coding_Transcript|GAS2_uc001mqo.2_Missense_Mutation_p.G64V	NM_001143830	NP_001137302	O43903	GAS2_HUMAN	growth arrest-specific 2	64	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				ovary(1)	1														0.235	124.025563	136.870509	47	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22707259	22707259	6509	11	G	T	T	T	572	44	GAS2	2	2
KCNA4	3739	broad.mit.edu	37	11	30032330	30032330	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:30032330C>A	uc001msk.2	-	c.1896G>T	c.(1894-1896)AAG>AAT	p.K632N		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	632						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.25625	101.38691	110.017429	41	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30032330	30032330	8310	11	C	A	A	A	311	24	KCNA4	2	2
DEPDC7	91614	broad.mit.edu	37	11	33054339	33054339	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33054339G>A	uc001mub.2	+	c.1263G>A	c.(1261-1263)AAG>AAA	p.K421K	DEPDC7_uc001muc.2_Silent_p.K412K	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	421					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)	1														0.253521	157.644345	169.392185	54	159	KEEP	---	---	---	---	capture		Silent	SNP	33054339	33054339	4623	11	G	A	A	A	451	35	DEPDC7	2	2
C11orf41	25758	broad.mit.edu	37	11	33565835	33565835	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33565835C>A	uc001mup.3	+	c.1835C>A	c.(1834-1836)ACC>AAC	p.T612N	C11orf41_uc001mun.1_Missense_Mutation_p.T612N	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	612						integral to membrane				ovary(2)	2														0.075269	0.12629	34.516991	14	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33565835	33565835	1679	11	C	A	A	A	234	18	C11orf41	2	2
PDHX	8050	broad.mit.edu	37	11	34937775	34937775	+	De_novo_Start_OutOfFrame	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:34937775C>A	uc001mvt.2	+	c.-427C>A	c.(-429--425)ACCTG>ACATG		PDHX_uc010rep.1_De_novo_Start_InFrame|PDHX_uc010req.1_De_novo_Start_OutOfFrame|APIP_uc010reo.1_Missense_Mutation_p.V5L|APIP_uc001mvs.2_Missense_Mutation_p.Q19H	NM_003477	NP_003468			pyruvate dehydrogenase complex, component X						pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)											0.344828	29.340584	29.957556	10	19	KEEP	---	---	---	---	capture		De_novo_Start_OutOfFrame	SNP	34937775	34937775	12088	11	C	A	A	A	311	24	PDHX	5	2
RAG1	5896	broad.mit.edu	37	11	36597537	36597537	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36597537G>T	uc001mwu.3	+	c.2683G>T	c.(2683-2685)GTA>TTA	p.V895L	RAG1_uc001mwt.2_Non-coding_Transcript	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	895					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				0.146893	48.425489	69.636472	26	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36597537	36597537	13463	11	G	T	T	T	468	36	RAG1	2	2
STIM1	6786	broad.mit.edu	37	11	4104157	4104157	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4104157C>T	uc001lyv.2	+	c.1183C>T	c.(1183-1185)CAC>TAC	p.H395Y	STIM1_uc009yef.2_Missense_Mutation_p.H395Y|STIM1_uc009yeg.2_Missense_Mutation_p.H222Y	NM_003156	NP_003147	Q13586	STIM1_HUMAN	stromal interaction molecule 1 precursor	395	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)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)										0.293651	104.228282	109.02911	37	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4104157	4104157	15803	11	C	T	T	T	273	21	STIM1	2	2
OR52B4	143496	broad.mit.edu	37	11	4389399	4389399	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4389399C>A	uc010qye.1	-	c.127G>T	c.(127-129)GGG>TGG	p.G43W		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.126761	9.101381	18.819421	9	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4389399	4389399	11522	11	C	A	A	A	273	21	OR52B4	2	2
EXT2	2132	broad.mit.edu	37	11	44228501	44228502	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:44228501_44228502GG>TT	uc001mya.2	+	c.1753_1754GG>TT	c.(1753-1755)GGT>TTT	p.G585F	EXT2_uc010rfo.1_Missense_Mutation_p.G580F|EXT2_uc001mxy.2_Missense_Mutation_p.G565F|EXT2_uc001mxz.2_Missense_Mutation_p.G552F|EXT2_uc009ykt.2_Missense_Mutation_p.G562F	NM_207122	NP_997005	Q93063	EXT2_HUMAN	exostosin 2 isoform 2	552	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				0.183406	100.217534	121.755895	42	187	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	44228501	44228502	5518	11	GG	TT	TT	TT	611	47	EXT2	2	2
OR52K1	390036	broad.mit.edu	37	11	4510989	4510989	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4510989C>G	uc001lza.1	+	c.859C>G	c.(859-861)CCC>GCC	p.P287A		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	287	Helical; Name=7; (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)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)										0.219269	189.222739	211.049441	66	235	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4510989	4510989	11533	11	C	G	G	G	234	18	OR52K1	3	3
PHF21A	51317	broad.mit.edu	37	11	45975093	45975093	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:45975093C>A	uc001ncc.3	-	c.1077G>T	c.(1075-1077)CGG>CGT	p.R359R	PHF21A_uc001ncb.3_Silent_p.R360R|PHF21A_uc009ykx.2_Silent_p.R360R|PHF21A_uc001nce.2_Silent_p.R360R|PHF21A_uc001nca.1_Silent_p.R95R	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	359					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														0.087379	2.695684	20.441644	9	94	KEEP	---	---	---	---	capture		Silent	SNP	45975093	45975093	12256	11	C	A	A	A	275	22	PHF21A	2	2
OR51D1	390038	broad.mit.edu	37	11	4661635	4661635	+	Silent	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4661635C>G	uc010qyk.1	+	c.615C>G	c.(613-615)ACC>ACG	p.T205T		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	205	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)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.24	149.211202	163.11924	54	171	KEEP	---	---	---	---	capture		Silent	SNP	4661635	4661635	11503	11	C	G	G	G	262	21	OR51D1	3	3
RNH1	6050	broad.mit.edu	37	11	494979	494979	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:494979C>G	uc001lpk.1	-	c.1202G>C	c.(1201-1203)CGT>CCT	p.R401P	RNH1_uc001lpl.1_Missense_Mutation_p.R401P|RNH1_uc001lpm.1_Missense_Mutation_p.R401P|RNH1_uc001lpn.1_Missense_Mutation_p.R401P|RNH1_uc001lpo.1_Missense_Mutation_p.R401P|RNH1_uc009ybw.1_Non-coding_Transcript|RNH1_uc001lpp.1_Missense_Mutation_p.R401P|RNH1_uc001lpt.1_Missense_Mutation_p.R158P|RNH1_uc001lpq.1_Missense_Mutation_p.R401P|RNH1_uc001lpr.1_Missense_Mutation_p.R401P|RNH1_uc001lps.1_Missense_Mutation_p.R401P	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	401	LRR 14.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)										0.214286	8.422469	9.473885	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	494979	494979	13983	11	C	G	G	G	247	19	RNH1	3	3
OR4A15	81328	broad.mit.edu	37	11	55135664	55135664	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55135664C>A	uc010rif.1	+	c.305C>A	c.(304-306)TCT>TAT	p.S102Y		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	102	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.269481	208.467905	223.252079	83	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55135664	55135664	11446	11	C	A	A	A	416	32	OR4A15	2	2
OR5D14	219436	broad.mit.edu	37	11	55563649	55563649	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55563649C>T	uc010rim.1	+	c.618C>T	c.(616-618)ACC>ACT	p.T206T		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	206	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)												0.071979	-1.220863	72.160345	28	361	KEEP	---	---	---	---	capture		Silent	SNP	55563649	55563649	11565	11	C	T	T	T	301	24	OR5D14	2	2
OR8J1	219477	broad.mit.edu	37	11	56128272	56128272	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56128272C>A	uc010rjh.1	+	c.550C>A	c.(550-552)CTG>ATG	p.L184M		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.228346	67.206263	75.806458	29	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56128272	56128272	11652	11	C	A	A	A	415	32	OR8J1	2	2
OR9G4	283189	broad.mit.edu	37	11	56510307	56510307	+	Silent	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56510307T>C	uc010rjo.1	-	c.981A>G	c.(979-981)ACA>ACG	p.T327T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	327	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.111628	32.251822	64.288194	24	191	KEEP	---	---	---	---	capture		Silent	SNP	56510307	56510307	11662	11	T	C	C	C	652	51	OR9G4	4	4
OR4D6	219983	broad.mit.edu	37	11	59224639	59224639	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59224639T>C	uc010rku.1	+	c.206T>C	c.(205-207)CTG>CCG	p.L69P		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.288235	147.608703	154.44206	49	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59224639	59224639	11465	11	T	C	C	C	715	55	OR4D6	4	4
ZP1	22917	broad.mit.edu	37	11	60636728	60636728	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60636728G>T	uc001nqd.2	+	c.307G>T	c.(307-309)GTG>TTG	p.V103L	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	103	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0														0.163636	17.156567	23.060362	9	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60636728	60636728	18819	11	G	T	T	T	520	40	ZP1	1	1
VPS37C	55048	broad.mit.edu	37	11	60899828	60899828	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60899828G>A	uc001nqv.1	-	c.532C>T	c.(532-534)CCG>TCG	p.P178S	VPS37C_uc001nqw.1_3'UTR	NM_017966	NP_060436	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37C	178	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane					0														0.222222	8.189426	9.469277	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60899828	60899828	17774	11	G	A	A	A	559	43	VPS37C	2	2
CYBASC3	220002	broad.mit.edu	37	11	61121427	61121427	+	Silent	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61121427C>G	uc001nrh.2	-	c.222G>C	c.(220-222)GGG>GGC	p.G74G	CYBASC3_uc001nrf.3_Silent_p.G74G|CYBASC3_uc010rlh.1_Silent_p.G91G|CYBASC3_uc001nrg.2_Silent_p.G74G|CYBASC3_uc009ynn.2_Intron|CYBASC3_uc001nri.2_Non-coding_Transcript|CYBASC3_uc009yno.2_Silent_p.G74G	NM_153611	NP_705839	Q8NBI2	CYAC3_HUMAN	cytochrome b, ascorbate dependent 3 isoform 2	74	Cytochrome b561.				electron transport chain|transport	integral to membrane|late endosome membrane|lysosomal membrane	metal ion binding|oxidoreductase activity				0														0.271318	99.387356	105.46999	35	94	KEEP	---	---	---	---	capture		Silent	SNP	61121427	61121427	4297	11	C	G	G	G	327	26	CYBASC3	3	3
GANAB	23193	broad.mit.edu	37	11	62398602	62398602	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62398602C>A	uc001nua.2	-	c.1116G>T	c.(1114-1116)CAG>CAT	p.Q372H	GANAB_uc001nub.2_Missense_Mutation_p.Q350H|GANAB_uc001nuc.2_Missense_Mutation_p.Q253H|GANAB_uc010rma.1_Missense_Mutation_p.Q258H|GANAB_uc010rmb.1_Missense_Mutation_p.Q236H	NM_198335	NP_938149	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 3	350					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)	4						Melanoma(23;1005 1074 15747 18937)								0.239852	459.475657	509.736658	195	618	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62398602	62398602	6497	11	C	A	A	A	415	32	GANAB	2	2
INTS5	80789	broad.mit.edu	37	11	62415826	62415826	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62415826G>A	uc001nud.2	-	c.1726C>T	c.(1726-1728)CGC>TGC	p.R576C	GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	576					snRNA processing	integral to membrane|integrator complex	protein binding			ovary(2)	2														0.089041	1.630071	26.487904	13	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62415826	62415826	8082	11	G	A	A	A	494	38	INTS5	1	1
NXF1	10482	broad.mit.edu	37	11	62569274	62569274	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62569274G>A	uc009yog.1	-	c.705C>T	c.(703-705)AAC>AAT	p.N235N	NXF1_uc001nvf.1_Silent_p.N192N|NXF1_uc001nvg.1_Silent_p.N192N|NXF1_uc010rmh.1_Silent_p.N55N	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	192	Interaction with THOC4.|RRM.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(1)	1														0.25	166.986039	181.523484	64	192	KEEP	---	---	---	---	capture		Silent	SNP	62569274	62569274	11187	11	G	A	A	A	464	36	NXF1	2	2
SLC22A6	9356	broad.mit.edu	37	11	62749428	62749428	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62749428T>A	uc001nwk.2	-	c.683A>T	c.(682-684)TAT>TTT	p.Y228F	SLC22A6_uc001nwl.2_Missense_Mutation_p.Y228F|SLC22A6_uc001nwj.2_Missense_Mutation_p.Y228F|SLC22A6_uc001nwm.2_Missense_Mutation_p.Y228F	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	228	Helical; (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0														0.209677	31.141653	35.977603	13	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62749428	62749428	14955	11	T	A	A	A	637	49	SLC22A6	3	3
APBB1	322	broad.mit.edu	37	11	6423312	6423312	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6423312C>T	uc001mdb.1	-	c.1382G>A	c.(1381-1383)AGA>AAA	p.R461K	APBB1_uc001mcz.1_Missense_Mutation_p.R82K|APBB1_uc001mdd.3_Missense_Mutation_p.R241K|APBB1_uc001mda.2_5'UTR|APBB1_uc001mdc.1_Missense_Mutation_p.R461K|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_Missense_Mutation_p.R82K|APBB1_uc010rae.1_3'UTR|APBB1_uc010raf.1_3'UTR|APBB1_uc009yfa.2_3'UTR|APBB1_uc009yey.2_3'UTR|APBB1_uc010rag.1_3'UTR|APBB1_uc009yfb.2_3'UTR|APBB1_uc001mde.2_3'UTR|APBB1_uc010rah.1_3'UTR	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	461	PID 1.				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)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GBM(147;1810 2556 5672 39622)								0.094595	4.478847	16.685879	7	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6423312	6423312	769	11	C	T	T	T	312	24	APBB1	2	2
LTBP3	4054	broad.mit.edu	37	11	65315462	65315462	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65315462G>A	uc001oej.2	-	c.1775C>T	c.(1774-1776)CCG>CTG	p.P592L	LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Missense_Mutation_p.P22L|LTBP3_uc010roi.1_Missense_Mutation_p.P475L|LTBP3_uc001oei.2_Missense_Mutation_p.P592L|LTBP3_uc010roj.1_Missense_Mutation_p.P293L|LTBP3_uc010rok.1_Missense_Mutation_p.P503L	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	592	Cys-rich.|EGF-like 3.					extracellular region	calcium ion binding|growth factor binding			lung(1)|central_nervous_system(1)	2														0.135135	14.406701	23.9501	10	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65315462	65315462	9451	11	G	A	A	A	507	39	LTBP3	1	1
PACS1	55690	broad.mit.edu	37	11	66001697	66001697	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66001697G>A	uc001oha.1	+	c.2088G>A	c.(2086-2088)TCG>TCA	p.S696S	PACS1_uc010rou.1_Silent_p.S232S	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	696					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6														0.122549	35.660089	64.086361	25	179	KEEP	---	---	---	---	capture		Silent	SNP	66001697	66001697	11788	11	G	A	A	A	496	39	PACS1	1	1
SPTBN2	6712	broad.mit.edu	37	11	66478225	66478225	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66478225T>A	uc001ojd.2	-	c.901A>T	c.(901-903)ATG>TTG	p.M301L		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	301					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														0.112245	15.367564	29.906372	11	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66478225	66478225	15634	11	T	A	A	A	663	51	SPTBN2	3	3
ADRBK1	156	broad.mit.edu	37	11	67049774	67049774	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67049774C>G	uc009yrn.1	+	c.990C>G	c.(988-990)CAC>CAG	p.H330Q	ADRBK1_uc009yrm.1_Missense_Mutation_p.H330Q	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	330	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			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)					329				0.070288	-4.263261	55.333985	22	291	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67049774	67049774	344	11	C	G	G	G	246	19	ADRBK1	3	3
SLCO2B1	11309	broad.mit.edu	37	11	74899193	74899193	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:74899193C>A	uc001owb.2	+	c.985C>A	c.(985-987)CCC>ACC	p.P329T	SLCO2B1_uc010rrq.1_Missense_Mutation_p.P74T|SLCO2B1_uc010rrr.1_Missense_Mutation_p.P185T|SLCO2B1_uc010rrs.1_Missense_Mutation_p.P213T|SLCO2B1_uc001owc.2_Missense_Mutation_p.P102T|SLCO2B1_uc001owd.2_Missense_Mutation_p.P307T	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	329	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)									0.362637	92.010299	93.496286	33	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74899193	74899193	15224	11	C	A	A	A	390	30	SLCO2B1	2	2
ODZ4	26011	broad.mit.edu	37	11	78468036	78468036	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:78468036C>A	uc001ozl.3	-	c.2570G>T	c.(2569-2571)TGC>TTC	p.C857F		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	857	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.275362	50.793538	53.930115	19	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78468036	78468036	11242	11	C	A	A	A	325	25	ODZ4	2	2
SYTL2	54843	broad.mit.edu	37	11	85459316	85459316	+	Silent	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:85459316T>A	uc010rtg.1	-	c.252A>T	c.(250-252)GCA>GCT	p.A84A	SYTL2_uc010rth.1_Silent_p.A84A|SYTL2_uc010rti.1_Silent_p.A84A|SYTL2_uc010rtj.1_Silent_p.A36A|SYTL2_uc001pbf.3_Silent_p.A84A	NM_001162953	NP_001156425	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform i	84					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)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)										0.355469	279.456249	284.166682	91	165	KEEP	---	---	---	---	capture		Silent	SNP	85459316	85459316	16004	11	T	A	A	A	704	55	SYTL2	3	3
FAT3	120114	broad.mit.edu	37	11	92531039	92531039	+	Silent	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92531039A>T	uc001pdj.3	+	c.4860A>T	c.(4858-4860)CTA>CTT	p.L1620L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1620	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)			0.359606	213.721614	217.242974	73	130	KEEP	---	---	---	---	capture		Silent	SNP	92531039	92531039	5927	11	A	T	T	T	184	15	FAT3	3	3
CCDC63	160762	broad.mit.edu	37	12	111336809	111336809	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111336809G>T	uc001trv.1	+	c.1222G>T	c.(1222-1224)GAT>TAT	p.D408Y	CCDC63_uc010sye.1_Missense_Mutation_p.D368Y|CCDC63_uc001trw.1_Missense_Mutation_p.D323Y	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	408	Potential.									ovary(1)|pancreas(1)	2														0.466258	224.902371	225.061443	76	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111336809	111336809	2957	12	G	T	T	T	533	41	CCDC63	2	2
TBX3	6926	broad.mit.edu	37	12	115114148	115114148	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:115114148C>A	uc001tvt.1	-	c.1069G>T	c.(1069-1071)GCC>TCC	p.A357S	TBX3_uc001tvu.1_Missense_Mutation_p.A337S	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	357					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)			BRCA - Breast invasive adenocarcinoma(302;0.0574)										0.422222	177.711184	178.408592	57	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115114148	115114148	16185	12	C	A	A	A	351	27	TBX3	1	1
NOS1	4842	broad.mit.edu	37	12	117718572	117718572	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:117718572G>A	uc001twm.1	-	c.1482C>T	c.(1480-1482)GAC>GAT	p.D494D		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	494					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)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	Esophageal Squamous(162;1748 2599 51982 52956)								0.144444	15.008131	25.992343	13	77	KEEP	---	---	---	---	capture		Silent	SNP	117718572	117718572	10944	12	G	A	A	A	516	40	NOS1	1	1
CIT	11113	broad.mit.edu	37	12	120263085	120263085	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120263085C>A	uc001txj.1	-	c.841G>T	c.(841-843)GGC>TGC	p.G281C	CIT_uc001txi.1_Missense_Mutation_p.G281C	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	281	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)		BRCA - Breast invasive adenocarcinoma(302;0.211)						1263				0.390244	252.706548	254.851606	80	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120263085	120263085	3573	12	C	A	A	A	299	23	CIT	1	1
ZNF268	10795	broad.mit.edu	37	12	133779409	133779410	+	Nonsense_Mutation	DNP	GA	TT	TT			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133779409_133779410GA>TT	uc010tcf.1	+	c.1137_1138GA>TT	c.(1135-1140)CAGAAA>CATTAA	p.379_380QK>H*	ZNF268_uc010tbv.1_Nonsense_Mutation_p.218_219QK>H*|ZNF268_uc010tbw.1_Nonsense_Mutation_p.218_219QK>H*|ZNF268_uc010tbx.1_Nonsense_Mutation_p.239_240QK>H*|ZNF268_uc010tby.1_Nonsense_Mutation_p.218_219QK>H*|ZNF268_uc010tbz.1_Nonsense_Mutation_p.218_219QK>H*|ZNF268_uc010tca.1_Nonsense_Mutation_p.218_219QK>H*|ZNF268_uc010tcb.1_Nonsense_Mutation_p.239_240QK>H*|ZNF268_uc010tcc.1_Nonsense_Mutation_p.218_219QK>H*|ZNF268_uc010tcd.1_Nonsense_Mutation_p.218_219QK>H*|ZNF268_uc010tce.1_Nonsense_Mutation_p.218_219QK>H*|ZNF268_uc010tcg.1_Nonsense_Mutation_p.218_219QK>H*|ZNF268_uc010tch.1_Nonsense_Mutation_p.379_380QK>H*	NM_003415	NP_003406	Q14587	ZN268_HUMAN	zinc finger protein 268 isoform a	379_380	C2H2-type 4.				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)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)										0.452381	63.019146	63.102183	19	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	133779409	133779410	18399	12	GA	TT	TT	TT	425	33	ZNF268	5	2
ABCC9	10060	broad.mit.edu	37	12	22089557	22089557	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:22089557C>G	uc001rfh.2	-	c.52G>C	c.(52-54)GGT>CGT	p.G18R	ABCC9_uc001rfi.1_Missense_Mutation_p.G18R|ABCC9_uc001rfj.1_Missense_Mutation_p.G18R|ABCC9_uc001rfk.2_Missense_Mutation_p.G18R|ABCC9_uc001rfl.1_Missense_Mutation_p.G18R	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	18	Extracellular (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)									0.242105	59.400169	65.147816	23	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22089557	22089557	60	12	C	G	G	G	273	21	ABCC9	3	3
SOX5	6660	broad.mit.edu	37	12	23999036	23999036	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:23999036C>A	uc001rfw.2	-	c.362G>T	c.(361-363)GGC>GTC	p.G121V	SOX5_uc001rfx.2_Missense_Mutation_p.G108V|SOX5_uc001rfy.2_Missense_Mutation_p.G108V|SOX5_uc010siv.1_Missense_Mutation_p.G108V|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.G73V|SOX5_uc001rga.2_Missense_Mutation_p.G86V	NM_006940	NP_008871	P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5 isoform a	121					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														0.140541	42.327509	65.400837	26	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23999036	23999036	15454	12	C	A	A	A	338	26	SOX5	2	2
IPO8	10526	broad.mit.edu	37	12	30783888	30783888	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:30783888G>T	uc001rjd.2	-	c.3020C>A	c.(3019-3021)GCA>GAA	p.A1007E	IPO8_uc001rje.1_3'UTR|IPO8_uc010sjt.1_Missense_Mutation_p.A802E	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	1007					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)													0.341085	128.760698	131.639788	44	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30783888	30783888	8099	12	G	T	T	T	598	46	IPO8	2	2
IPO8	10526	broad.mit.edu	37	12	30837234	30837234	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:30837234C>A	uc001rjd.2	-	c.323_splice	c.e3+1	p.R108_splice		NM_006390	NP_006381			importin 8						intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)													0.260606	118.359202	126.9135	43	122	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	30837234	30837234	8099	12	C	A	A	A	234	18	IPO8	5	2
BICD1	636	broad.mit.edu	37	12	32260458	32260458	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32260458G>C	uc001rku.2	+	c.193G>C	c.(193-195)GAG>CAG	p.E65Q	BICD1_uc001rkv.2_Missense_Mutation_p.E65Q|BICD1_uc010skd.1_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	65	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)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)											0.357143	16.571943	16.823229	5	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32260458	32260458	1453	12	G	C	C	C	533	41	BICD1	3	3
YARS2	51067	broad.mit.edu	37	12	32908775	32908775	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32908775C>A	uc001rli.2	-	c.34G>T	c.(34-36)GGC>TGC	p.G12C		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	12					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)	0.469027	155.114698	155.203221	53	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32908775	32908775	18051	12	C	A	A	A	286	22	YARS2	2	2
ANO6	196527	broad.mit.edu	37	12	45810526	45810526	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45810526C>T	uc010slf.1	+	c.2119C>T	c.(2119-2121)CTG>TTG	p.L707L	ANO6_uc001roo.2_Silent_p.L686L|ANO6_uc010sld.1_Silent_p.L686L|ANO6_uc010sle.1_Silent_p.L686L|ANO6_uc010slg.1_Silent_p.L668L	NM_001142678	NP_001136150	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform b	686	Helical; (Potential).				activation of blood coagulation via clotting cascade	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2														0.387097	146.492395	147.869868	48	76	KEEP	---	---	---	---	capture		Silent	SNP	45810526	45810526	709	12	C	T	T	T	259	20	ANO6	2	2
SFRS2IP	9169	broad.mit.edu	37	12	46320773	46320773	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:46320773C>A	uc001rox.2	-	c.2711G>T	c.(2710-2712)GGA>GTA	p.G904V	SFRS2IP_uc001row.2_Missense_Mutation_p.G589V|SFRS2IP_uc001roy.1_Missense_Mutation_p.G978V	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	904	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)										0.423404	574.230431	576.639021	199	271	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46320773	46320773	14667	12	C	A	A	A	390	30	SFRS2IP	2	2
DYRK4	8798	broad.mit.edu	37	12	4722693	4722693	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4722693A>G	uc001qmx.2	+	c.1337A>G	c.(1336-1338)AAA>AGA	p.K446R	DYRK4_uc001qmy.1_Missense_Mutation_p.K445R|DYRK4_uc001qmz.1_Missense_Mutation_p.K159R|DYRK4_uc001qna.1_Missense_Mutation_p.K82R|DYRK4_uc010ser.1_Missense_Mutation_p.K83R	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	446					protein phosphorylation	Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)	2			Colorectal(7;0.103)							294				0.219512	55.706802	61.647087	18	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4722693	4722693	5044	12	A	G	G	G	13	1	DYRK4	4	4
RAPGEF3	10411	broad.mit.edu	37	12	48143570	48143570	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48143570C>A	uc001rpz.3	-	c.848G>T	c.(847-849)TGG>TTG	p.W283L	RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkp.2_Missense_Mutation_p.W241L|RAPGEF3_uc009zkq.2_Missense_Mutation_p.W241L|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.W295L|RAPGEF3_uc001rqb.3_Missense_Mutation_p.W283L	NM_001098531	NP_001092001	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	241					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity				0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)										0.473054	244.606238	244.712006	79	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48143570	48143570	13505	12	C	A	A	A	273	21	RAPGEF3	2	2
ADCY6	112	broad.mit.edu	37	12	49170251	49170251	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49170251C>A	uc001rsh.3	-	c.1495G>T	c.(1495-1497)GTG>TTG	p.V499L	ADCY6_uc001rsj.3_Missense_Mutation_p.V499L|ADCY6_uc001rsi.3_Missense_Mutation_p.V499L|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	499	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	ATP binding|metal ion binding				0														0.438776	136.999773	137.32124	43	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49170251	49170251	299	12	C	A	A	A	221	17	ADCY6	2	2
LETMD1	25875	broad.mit.edu	37	12	51442900	51442900	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51442900G>T	uc009zlw.2	+	c.206G>T	c.(205-207)GGG>GTG	p.G69V	LETMD1_uc010smz.1_Missense_Mutation_p.G69V|LETMD1_uc010sna.1_Missense_Mutation_p.G69V|LETMD1_uc001rxl.2_Missense_Mutation_p.G13V|LETMD1_uc009zlv.2_Non-coding_Transcript|LETMD1_uc001rxs.2_Missense_Mutation_p.G69V|LETMD1_uc001rxm.2_Missense_Mutation_p.G69V|LETMD1_uc001rxn.2_5'UTR|LETMD1_uc001rxo.2_Non-coding_Transcript|LETMD1_uc001rxp.2_Intron|LETMD1_uc001rxq.2_Missense_Mutation_p.G69V|LETMD1_uc001rxr.2_Non-coding_Transcript|LETMD1_uc001rxt.2_5'UTR	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1	69	Cytoplasmic (Potential).|Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2														0.435583	213.492758	214.083506	71	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51442900	51442900	9060	12	G	T	T	T	559	43	LETMD1	2	2
BIN2	51411	broad.mit.edu	37	12	51689596	51689596	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51689596C>G	uc001ryg.2	-	c.745G>C	c.(745-747)GTG>CTG	p.V249L	BIN2_uc009zlz.2_Missense_Mutation_p.V217L|BIN2_uc001ryh.2_Missense_Mutation_p.V125L|BIN2_uc010sng.1_Missense_Mutation_p.V223L	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	249						cytoplasm	protein binding			ovary(1)	1														0.335404	366.838289	374.538569	108	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51689596	51689596	1458	12	C	G	G	G	234	18	BIN2	3	3
KRT6A	3853	broad.mit.edu	37	12	52885477	52885477	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52885477C>A	uc001sam.2	-	c.584G>T	c.(583-585)TGG>TTG	p.W195L		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	195	Coil 1A.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)	4				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.370861	156.911437	159.141539	56	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52885477	52885477	8795	12	C	A	A	A	273	21	KRT6A	2	2
KRT5	3852	broad.mit.edu	37	12	52910579	52910579	+	Silent	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52910579A>G	uc001san.2	-	c.1281T>C	c.(1279-1281)GAT>GAC	p.D427D	KRT5_uc009zmh.2_Silent_p.D427D	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	427	Rod.|Coil 2.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.488038	314.816289	314.842398	102	107	KEEP	---	---	---	---	capture		Silent	SNP	52910579	52910579	8794	12	A	G	G	G	102	8	KRT5	4	4
ZNF385A	25946	broad.mit.edu	37	12	54767848	54767848	+	Silent	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54767848G>C	uc001sfy.3	-	c.330C>G	c.(328-330)ACC>ACG	p.T110T	ZNF385A_uc001sfv.1_Silent_p.T71T|ZNF385A_uc009zno.1_Non-coding_Transcript|ZNF385A_uc001sfw.1_Silent_p.T90T|ZNF385A_uc010sov.1_Silent_p.T90T|ZNF385A_uc001sfx.1_Silent_p.T90T|ZNF385A_uc001sfz.3_Silent_p.T110T	NM_001130967	NP_001124439	Q96PM9	Z385A_HUMAN	zinc finger protein 385A isoform a	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			ovary(1)	1														0.517647	143.796949	143.8197	44	41	KEEP	---	---	---	---	capture		Silent	SNP	54767848	54767848	18468	12	G	C	C	C	600	47	ZNF385A	3	3
KIAA0748	9840	broad.mit.edu	37	12	55356793	55356793	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55356793G>A	uc001sgn.3	-	c.889C>T	c.(889-891)CGA>TGA	p.R297*	KIAA0748_uc001sgl.3_Nonsense_Mutation_p.R159*|KIAA0748_uc001sgm.3_Nonsense_Mutation_p.R44*|KIAA0748_uc010spb.1_Nonsense_Mutation_p.R44*|KIAA0748_uc010spc.1_Nonsense_Mutation_p.R159*|KIAA0748_uc010spd.1_Nonsense_Mutation_p.R297*|KIAA0748_uc001sgo.3_Non-coding_Transcript	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	297										ovary(1)|central_nervous_system(1)	2														0.418803	152.840698	153.516524	49	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55356793	55356793	8497	12	G	A	A	A	506	39	KIAA0748	5	1
OR6C1	390321	broad.mit.edu	37	12	55714510	55714510	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55714510C>A	uc010spi.1	+	c.127C>A	c.(127-129)CTT>ATT	p.L43I		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.457516	215.917579	216.159686	70	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55714510	55714510	11600	12	C	A	A	A	312	24	OR6C1	2	2
TIMELESS	8914	broad.mit.edu	37	12	56811918	56811918	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56811918C>A	uc001slf.2	-	c.3454G>T	c.(3454-3456)GAG>TAG	p.E1152*		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	1152					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														0.444795	839.870368	841.549628	282	352	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56811918	56811918	16433	12	C	A	A	A	286	22	TIMELESS	5	2
RDH16	8608	broad.mit.edu	37	12	57345827	57345827	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57345827C>A	uc001smi.3	-	c.940G>T	c.(940-942)GCC>TCC	p.A314S	RDH16_uc009zpa.2_Missense_Mutation_p.A169S	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	314	Lumenal (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)								0.409524	134.507588	135.25797	43	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57345827	57345827	13663	12	C	A	A	A	338	26	RDH16	2	2
VWF	7450	broad.mit.edu	37	12	6135206	6135206	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6135206C>A	uc001qnn.1	-	c.2974G>T	c.(2974-2976)GTG>TTG	p.V992L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	992	VWFD 3.				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)									0.169231	45.484447	58.936731	22	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6135206	6135206	17818	12	C	A	A	A	260	20	VWF	2	2
CD163	9332	broad.mit.edu	37	12	7636091	7636092	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7636091_7636092CC>AA	uc001qsz.3	-	c.2959_2960GG>TT	c.(2959-2961)GGG>TTG	p.G987L	CD163_uc001qta.3_Missense_Mutation_p.G987L|CD163_uc009zfw.2_Missense_Mutation_p.G1020L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	987	SRCR 9.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8														0.195804	62.628052	74.955764	28	115	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	7636091	7636092	3094	12	CC	AA	AA	AA	286	22	CD163	2	2
PHLDA1	22822	broad.mit.edu	37	12	76424788	76424788	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76424788C>A	uc001sxu.2	-	c.734G>T	c.(733-735)CGC>CTC	p.R245L		NM_007350	NP_031376	Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A,	245	PH.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding				0		Colorectal(145;0.09)												0.457364	180.988796	181.194999	59	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76424788	76424788	12272	12	C	A	A	A	351	27	PHLDA1	1	1
EPYC	1833	broad.mit.edu	37	12	91358003	91358003	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:91358003G>T	uc001tbk.2	-	c.899C>A	c.(898-900)CCT>CAT	p.P300H		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	300	LRR 6.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding				0														0.435583	217.204669	217.792831	71	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91358003	91358003	5394	12	G	T	T	T	455	35	EPYC	2	2
SLC10A2	6555	broad.mit.edu	37	13	103718254	103718254	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103718254C>A	uc001vpy.3	-	c.346G>T	c.(346-348)GCC>TCC	p.A116S		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid	116	Extracellular (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)													0.092105	8.033072	33.495949	14	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103718254	103718254	14869	13	C	A	A	A	338	26	SLC10A2	2	2
LIG4	3981	broad.mit.edu	37	13	108861585	108861585	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:108861585G>A	uc001vqn.2	-	c.2032C>T	c.(2032-2034)CTG>TTG	p.L678L	LIG4_uc001vqo.2_Silent_p.L678L|LIG4_uc010agg.1_Silent_p.L611L|LIG4_uc010agf.2_Silent_p.L678L|LIG4_uc001vqp.2_Silent_p.L678L	NM_002312	NP_002303	P49917	DNLI4_HUMAN	DNA ligase IV	678	BRCT 1.				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)													0.166667	47.49443	60.768093	21	105	KEEP	---	---	---	---	capture		Silent	SNP	108861585	108861585	9109	13	G	A	A	A	451	35	LIG4	2	2
MYO16	23026	broad.mit.edu	37	13	109793613	109793613	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:109793613C>A	uc010agk.1	+	c.5053C>A	c.(5053-5055)CCC>ACC	p.P1685T	MYO16_uc001vqt.1_Missense_Mutation_p.P1663T	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1663	Pro-rich.				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)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)											0.227273	11.664324	13.165674	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109793613	109793613	10459	13	C	A	A	A	390	30	MYO16	2	2
COL4A2	1284	broad.mit.edu	37	13	111132683	111132683	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111132683G>T	uc001vqx.2	+	c.2704G>T	c.(2704-2706)GGA>TGA	p.G902*		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	902	Triple-helical region.				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)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)											0.192308	55.000404	66.493852	25	105	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	111132683	111132683	3828	13	G	T	T	T	455	35	COL4A2	5	2
COL4A2	1284	broad.mit.edu	37	13	111158944	111158944	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111158944C>A	uc001vqx.2	+	c.4585C>A	c.(4585-4587)CAG>AAG	p.Q1529K		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1529	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)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)											0.222222	9.489605	10.767932	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111158944	111158944	3828	13	C	A	A	A	273	21	COL4A2	2	2
ADPRHL1	113622	broad.mit.edu	37	13	114107681	114107681	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:114107681C>T	uc001vtq.1	-	c.72G>A	c.(70-72)AAG>AAA	p.K24K		NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	24					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)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)											0.151163	25.018956	35.04349	13	73	KEEP	---	---	---	---	capture		Silent	SNP	114107681	114107681	333	13	C	T	T	T	311	24	ADPRHL1	2	2
RNF17	56163	broad.mit.edu	37	13	25356050	25356050	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25356050G>A	uc001upr.2	+	c.579G>A	c.(577-579)CAG>CAA	p.Q193Q	RNF17_uc010tdd.1_Silent_p.Q52Q|RNF17_uc010aab.2_Non-coding_Transcript|RNF17_uc010tde.1_Silent_p.Q193Q|RNF17_uc001ups.2_Silent_p.Q132Q|RNF17_uc001upq.1_Silent_p.Q193Q	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	193					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)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)										0.139241	21.169575	31.103749	11	68	KEEP	---	---	---	---	capture		Silent	SNP	25356050	25356050	13938	13	G	A	A	A	464	36	RNF17	2	2
FAM123A	219287	broad.mit.edu	37	13	25745640	25745640	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25745640C>A	uc001uqb.2	-	c.118G>T	c.(118-120)GCG>TCG	p.A40S	FAM123A_uc001uqa.2_Missense_Mutation_p.A40S|FAM123A_uc001uqc.2_Missense_Mutation_p.A40S	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	40	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)										0.1875	6.818012	8.279105	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25745640	25745640	5619	13	C	A	A	A	351	27	FAM123A	1	1
NUPL1	9818	broad.mit.edu	37	13	25881957	25881957	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25881957G>T	uc001uqi.2	+	c.121G>T	c.(121-123)GGG>TGG	p.G41W	NUPL1_uc001uqg.1_Missense_Mutation_p.G41W|NUPL1_uc001uqj.2_Missense_Mutation_p.G41W	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	41	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)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)								0.151724	37.552666	54.397381	22	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25881957	25881957	11179	13	G	T	T	T	559	43	NUPL1	2	2
KATNAL1	84056	broad.mit.edu	37	13	30801606	30801606	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:30801606T>C	uc001uss.2	-	c.1090A>G	c.(1090-1092)ATT>GTT	p.I364V	KATNAL1_uc001ust.2_Missense_Mutation_p.I364V	NM_001014380	NP_001014402	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	364						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity				0		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)										0.150943	34.141382	46.504685	16	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30801606	30801606	8289	13	T	C	C	C	663	51	KATNAL1	4	4
HSPH1	10808	broad.mit.edu	37	13	31713001	31713001	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:31713001C>T	uc001utl.2	-	c.2131G>A	c.(2131-2133)GCT>ACT	p.A711T	HSPH1_uc001utj.2_Missense_Mutation_p.A709T|HSPH1_uc001utk.2_Missense_Mutation_p.A665T|HSPH1_uc010aaw.2_Missense_Mutation_p.A668T|HSPH1_uc010tds.1_Missense_Mutation_p.A633T	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	709					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)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)										0.127273	36.65177	59.008856	21	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31713001	31713001	7731	13	C	T	T	T	364	28	HSPH1	2	2
FRY	10129	broad.mit.edu	37	13	32811626	32811626	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32811626A>T	uc001utx.2	+	c.5921A>T	c.(5920-5922)GAA>GTA	p.E1974V	FRY_uc010tdw.1_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)	6		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)										0.119403	8.254464	17.780919	8	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32811626	32811626	6313	13	A	T	T	T	117	9	FRY	3	3
STARD13	90627	broad.mit.edu	37	13	33703975	33703975	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:33703975C>A	uc001uuw.2	-	c.839G>T	c.(838-840)CGG>CTG	p.R280L	STARD13_uc001uuu.2_Missense_Mutation_p.R272L|STARD13_uc001uuv.2_Missense_Mutation_p.R162L|STARD13_uc001uux.2_Missense_Mutation_p.R245L|STARD13_uc010tec.1_Non-coding_Transcript|STARD13_uc010abh.1_Missense_Mutation_p.R265L	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	280					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)		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)										0.087719	8.395491	37.790101	15	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33703975	33703975	15775	13	C	A	A	A	299	23	STARD13	1	1
STARD13	90627	broad.mit.edu	37	13	33704350	33704350	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:33704350C>A	uc001uuw.2	-	c.464G>T	c.(463-465)CGT>CTT	p.R155L	STARD13_uc001uuu.2_Missense_Mutation_p.R147L|STARD13_uc001uuv.2_Missense_Mutation_p.R37L|STARD13_uc001uux.2_Missense_Mutation_p.R120L|STARD13_uc010tec.1_Non-coding_Transcript|STARD13_uc010abh.1_Missense_Mutation_p.R140L	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	155					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)		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)										0.208955	35.918171	41.167958	14	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33704350	33704350	15775	13	C	A	A	A	247	19	STARD13	1	1
RFC3	5983	broad.mit.edu	37	13	34404943	34404943	+	Nonsense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:34404943A>T	uc001uuz.2	+	c.661A>T	c.(661-663)AGA>TGA	p.R221*	RFC3_uc001uva.2_Nonsense_Mutation_p.R221*|RFC3_uc010ted.1_Nonsense_Mutation_p.R221*	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	221					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|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				0		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)										0.106383	9.88177	24.341435	10	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	34404943	34404943	13717	13	A	T	T	T	192	15	RFC3	5	3
NBEA	26960	broad.mit.edu	37	13	35733541	35733541	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:35733541C>A	uc001uvb.2	+	c.3233C>A	c.(3232-3234)CCG>CAG	p.P1078Q	NBEA_uc010abi.2_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1078						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)		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)										0.096774	4.704281	14.805118	6	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35733541	35733541	10583	13	C	A	A	A	299	23	NBEA	1	1
ELF1	1997	broad.mit.edu	37	13	41507884	41507884	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:41507884G>C	uc001uxs.2	-	c.1537C>G	c.(1537-1539)CAG>GAG	p.Q513E	ELF1_uc010tfc.1_Missense_Mutation_p.Q489E|ELF1_uc010acd.2_Missense_Mutation_p.Q406E	NM_172373	NP_758961	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription	513					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			ovary(1)	1		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)										0.092857	12.981203	36.315841	13	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41507884	41507884	5244	13	G	C	C	C	585	45	ELF1	3	3
PCDH17	27253	broad.mit.edu	37	13	58209184	58209184	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58209184G>C	uc001vhq.1	+	c.2504G>C	c.(2503-2505)AGC>ACC	p.S835T	PCDH17_uc010aec.1_Missense_Mutation_p.S835T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	835	Cytoplasmic (Potential).				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)		GBM - Glioblastoma multiforme(99;1.06e-05)		Melanoma(72;952 1291 1619 12849 33676)								0.114754	11.478751	20.400774	7	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58209184	58209184	11932	13	G	C	C	C	442	34	PCDH17	3	3
DIAPH3	81624	broad.mit.edu	37	13	60545246	60545246	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:60545246C>A	uc001vht.2	-	c.1699G>T	c.(1699-1701)GAA>TAA	p.E567*	DIAPH3_uc001vhu.2_Nonsense_Mutation_p.E304*|DIAPH3_uc001vhv.2_Nonsense_Mutation_p.E145*	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	567	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)										0.227273	12.262769	13.765106	5	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	60545246	60545246	4699	13	C	A	A	A	416	32	DIAPH3	5	2
KLHL1	57626	broad.mit.edu	37	13	70314575	70314575	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:70314575T>A	uc001vip.2	-	c.1753A>T	c.(1753-1755)AGT>TGT	p.S585C	KLHL1_uc010thm.1_Missense_Mutation_p.S524C	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	585	Kelch 3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)										0.137931	19.645323	30.671965	12	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70314575	70314575	8677	13	T	A	A	A	715	55	KLHL1	3	3
C13orf34	79866	broad.mit.edu	37	13	73319235	73319235	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:73319235T>A	uc010aen.1	+	c.853T>A	c.(853-855)TCG>ACG	p.S285T	C13orf34_uc010thq.1_5'UTR|C13orf34_uc001viv.1_Missense_Mutation_p.S210T|C13orf34_uc010thr.1_Missense_Mutation_p.S140T|C13orf34_uc001viw.1_Missense_Mutation_p.S159T	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	210	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)		GBM - Glioblastoma multiforme(99;0.000227)										0.110727	25.074023	68.698576	32	257	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73319235	73319235	1775	13	T	A	A	A	806	62	C13orf34	3	3
SLITRK6	84189	broad.mit.edu	37	13	86369289	86369289	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:86369289G>T	uc001vll.1	-	c.1355C>A	c.(1354-1356)CCA>CAA	p.P452Q	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	452	Extracellular (Potential).|LRR 9.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)										0.119205	22.836082	44.337017	18	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86369289	86369289	15245	13	G	T	T	T	611	47	SLITRK6	2	2
GPC5	2262	broad.mit.edu	37	13	92101100	92101100	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:92101100G>T	uc010tif.1	+	c.249G>T	c.(247-249)CAG>CAT	p.Q83H		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	83						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)												0.122137	20.606533	38.925433	16	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92101100	92101100	6875	13	G	T	T	T	451	35	GPC5	2	2
BEGAIN	57596	broad.mit.edu	37	14	101005479	101005479	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:101005479G>A	uc010txa.1	-	c.609C>T	c.(607-609)TCC>TCT	p.S203S	BEGAIN_uc001yhp.2_Silent_p.S139S|BEGAIN_uc001yhq.2_Silent_p.S203S	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	203						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				NSCLC(159;1889 2010 9965 27479 40101)								0.25	11.462859	12.604583	5	15	KEEP	---	---	---	---	capture		Silent	SNP	101005479	101005479	1420	14	G	A	A	A	496	39	BEGAIN	1	1
DYNC1H1	1778	broad.mit.edu	37	14	102476788	102476788	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102476788G>T	uc001yks.2	+	c.6397G>T	c.(6397-6399)GAA>TAA	p.E2133*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2133					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														0.289157	65.365166	68.673185	24	59	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	102476788	102476788	5027	14	G	T	T	T	585	45	DYNC1H1	5	2
AHNAK2	113146	broad.mit.edu	37	14	105405431	105405431	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105405431G>T	uc010axc.1	-	c.16357C>A	c.(16357-16359)CTG>ATG	p.L5453M	AHNAK2_uc001ypx.2_Missense_Mutation_p.L5353M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5453						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.222222	9.689717	10.967867	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105405431	105405431	418	14	G	T	T	T	451	35	AHNAK2	2	2
AHNAK2	113146	broad.mit.edu	37	14	105407714	105407714	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105407714C>T	uc010axc.1	-	c.14074G>A	c.(14074-14076)GAA>AAA	p.E4692K	AHNAK2_uc001ypx.2_Missense_Mutation_p.E4592K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4692						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.123894	21.164893	36.801415	14	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105407714	105407714	418	14	C	T	T	T	416	32	AHNAK2	2	2
AHNAK2	113146	broad.mit.edu	37	14	105418949	105418949	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105418949C>A	uc010axc.1	-	c.2839G>T	c.(2839-2841)GGC>TGC	p.G947C	AHNAK2_uc001ypx.2_Missense_Mutation_p.G847C	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	947						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.169697	158.866206	210.008823	84	411	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105418949	105418949	418	14	C	A	A	A	312	24	AHNAK2	2	2
GPR132	29933	broad.mit.edu	37	14	105518393	105518393	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105518393G>T	uc001yqd.2	-	c.81C>A	c.(79-81)GGC>GGA	p.G27G	GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Silent_p.G18G	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	27	Extracellular (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)	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)										0.288889	132.249961	139.429027	52	128	KEEP	---	---	---	---	capture		Silent	SNP	105518393	105518393	6916	14	G	T	T	T	535	42	GPR132	2	2
OR4L1	122742	broad.mit.edu	37	14	20528425	20528425	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20528425C>T	uc001vwn.1	+	c.222C>T	c.(220-222)TCC>TCT	p.S74S		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L,	74	Helical; Name=2; (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)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)										0.112637	47.230491	101.15176	41	323	KEEP	---	---	---	---	capture		Silent	SNP	20528425	20528425	11484	14	C	T	T	T	262	21	OR4L1	2	2
RNASE2	6036	broad.mit.edu	37	14	21424254	21424254	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21424254C>A	uc010aif.2	+	c.324C>A	c.(322-324)ATC>ATA	p.I108I	RNASE2_uc001vyl.1_Silent_p.I108I	NM_002934	NP_002925	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver,	108					chemotaxis|pathogenesis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			ovary(1)	1	all_cancers(95;0.00381)		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)										0.119048	20.596503	44.548957	20	148	KEEP	---	---	---	---	capture		Silent	SNP	21424254	21424254	13881	14	C	A	A	A	382	30	RNASE2	2	2
NDRG2	57447	broad.mit.edu	37	14	21486634	21486634	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21486634G>T	uc001vyy.2	-	c.843C>A	c.(841-843)ACC>ACA	p.T281T	NDRG2_uc010tll.1_Silent_p.T277T|NDRG2_uc001vyt.2_Silent_p.T194T|NDRG2_uc001vyu.2_Silent_p.T238T|NDRG2_uc001vyv.2_Silent_p.T267T|NDRG2_uc001vyw.2_Silent_p.T267T|NDRG2_uc001vzb.2_Silent_p.T221T|NDRG2_uc001vyx.2_Silent_p.T281T|NDRG2_uc001vza.2_Silent_p.T267T|NDRG2_uc001vyz.2_Silent_p.T267T|NDRG2_uc001vzc.2_Intron|NDRG2_uc001vze.2_Silent_p.T281T|NDRG2_uc001vzd.2_Silent_p.T281T|NDRG2_uc001vzg.2_Silent_p.T267T|NDRG2_uc001vzf.2_Silent_p.T267T|NDRG2_uc010aig.2_Silent_p.T270T	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	N-myc downstream-regulated gene 2 isoform a	281					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(1)	1	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)										0.222222	27.677392	31.50909	12	42	KEEP	---	---	---	---	capture		Silent	SNP	21486634	21486634	10651	14	G	T	T	T	548	43	NDRG2	2	2
IL25	64806	broad.mit.edu	37	14	23842476	23842476	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23842476A>G	uc001wjr.2	+	c.149A>G	c.(148-150)GAG>GGG	p.E50G	IL25_uc001wjq.2_Missense_Mutation_p.E34G	NM_022789	NP_073626	Q9H293	IL25_HUMAN	interleukin 25 isoform 1 precursor	50					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			ovary(1)	1	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)										0.11811	24.336303	42.53223	15	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23842476	23842476	7979	14	A	G	G	G	143	11	IL25	4	4
LTB4R	1241	broad.mit.edu	37	14	24785583	24785583	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24785583G>A	uc001wos.2	+	c.726G>A	c.(724-726)CTG>CTA	p.L242L	LTB4R_uc010alp.2_Silent_p.L242L|LTB4R_uc001wou.2_Silent_p.L242L	NM_001143919	NP_001137391	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	242	Helical; Name=6; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding				0				GBM - Glioblastoma multiforme(265;0.018)										0.258065	20.282836	21.930355	8	23	KEEP	---	---	---	---	capture		Silent	SNP	24785583	24785583	9447	14	G	A	A	A	600	47	LTB4R	2	2
NYNRIN	57523	broad.mit.edu	37	14	24877306	24877306	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24877306G>T	uc001wpf.3	+	c.430G>T	c.(430-432)GGC>TGC	p.G144C		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	144					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.233333	33.215885	37.126816	14	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24877306	24877306	11201	14	G	T	T	T	559	43	NYNRIN	2	2
NYNRIN	57523	broad.mit.edu	37	14	24878485	24878485	+	Silent	SNP	G	T	T	rs12897153	byFrequency;by1000genomes	TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24878485G>T	uc001wpf.3	+	c.1485G>T	c.(1483-1485)CCG>CCT	p.P495P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	495					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.25	51.060081	55.607742	20	60	KEEP	---	---	---	---	capture		Silent	SNP	24878485	24878485	11201	14	G	T	T	T	496	39	NYNRIN	1	1
GZMH	2999	broad.mit.edu	37	14	25075914	25075914	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:25075914G>T	uc001wpr.1	-	c.636C>A	c.(634-636)GCC>GCA	p.A212A	GZMH_uc010aly.1_Silent_p.A126A|GZMH_uc010alz.1_3'UTR	NM_033423	NP_219491	P20718	GRAH_HUMAN	granzyme H precursor	212	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.0267)										0.09375	11.815753	54.279486	24	232	KEEP	---	---	---	---	capture		Silent	SNP	25075914	25075914	7197	14	G	T	T	T	548	43	GZMH	2	2
PRKD1	5587	broad.mit.edu	37	14	30133065	30133065	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:30133065C>A	uc001wqh.2	-	c.536G>T	c.(535-537)GGG>GTG	p.G179V		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	179	Phorbol-ester/DAG-type 1.				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)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)						428				0.252632	169.144838	184.997778	72	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30133065	30133065	12961	14	C	A	A	A	286	22	PRKD1	2	2
G2E3	55632	broad.mit.edu	37	14	31077153	31077153	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:31077153G>T	uc001wqk.2	+	c.1378G>T	c.(1378-1380)GGT>TGT	p.G460C	G2E3_uc010tpe.1_3'UTR|G2E3_uc010tpf.1_Missense_Mutation_p.G414C	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	460	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3														0.137405	34.064552	50.722708	18	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31077153	31077153	6391	14	G	T	T	T	507	39	G2E3	1	1
HEATR5A	25938	broad.mit.edu	37	14	31778370	31778370	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:31778370G>T	uc001wrf.3	-	c.3581C>A	c.(3580-3582)GCA>GAA	p.A1194E	HEATR5A_uc010ami.2_Missense_Mutation_p.A1092E	NM_015473	NP_056288			HEAT repeat containing 5A											ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		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)										0.293532	164.145185	171.81506	59	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31778370	31778370	7314	14	G	T	T	T	598	46	HEATR5A	2	2
EXOC5	10640	broad.mit.edu	37	14	57684713	57684713	+	Missense_Mutation	SNP	T	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:57684713T>G	uc001xct.2	-	c.1600A>C	c.(1600-1602)ACT>CCT	p.T534P	EXOC5_uc001xcs.2_Missense_Mutation_p.T213P|EXOC5_uc010trg.1_Missense_Mutation_p.T479P|EXOC5_uc010trh.1_Missense_Mutation_p.T469P	NM_006544	NP_006535	O00471	EXOC5_HUMAN	SEC10 protein	534					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				ovary(2)|breast(1)	3														0.138298	27.815376	39.699865	13	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57684713	57684713	5500	14	T	G	G	G	741	57	EXOC5	4	4
SLC35F4	341880	broad.mit.edu	37	14	58036699	58036699	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:58036699C>A	uc001xdb.1	-	c.1042_splice	c.e6-1	p.V348_splice	SLC35F4_uc010aoz.1_Splice_Site_SNP|SLC35F4_uc010apa.1_Splice_Site_SNP_p.V189_splice	NM_001080455	NP_001073924			solute carrier family 35, member F4						transport	integral to membrane				ovary(2)	2														0.194444	12.898762	16.041359	7	29	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	58036699	58036699	15088	14	C	A	A	A	312	24	SLC35F4	5	2
RHOJ	57381	broad.mit.edu	37	14	63671738	63671738	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63671738G>A	uc001xgb.1	+	c.151G>A	c.(151-153)GTG>ATG	p.V51M		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	51	Effector region (Potential).				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)										0.12844	21.179334	35.8351	14	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63671738	63671738	13816	14	G	A	A	A	520	40	RHOJ	1	1
PLEKHG3	26030	broad.mit.edu	37	14	65208508	65208508	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65208508A>G	uc001xhp.2	+	c.2636A>G	c.(2635-2637)AAC>AGC	p.N879S	PLEKHG3_uc001xhn.1_Missense_Mutation_p.N702S|PLEKHG3_uc001xho.1_Missense_Mutation_p.N758S|PLEKHG3_uc010aqh.1_Missense_Mutation_p.N300S|PLEKHG3_uc001xhq.1_Missense_Mutation_p.N263S	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	758					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)										0.248322	219.427774	236.581092	74	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65208508	65208508	12496	14	A	G	G	G	26	2	PLEKHG3	4	4
FUT8	2530	broad.mit.edu	37	14	66135974	66135974	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:66135974G>C	uc001xin.2	+	c.611G>C	c.(610-612)TGC>TCC	p.C204S	FUT8_uc001xio.2_Missense_Mutation_p.C204S|FUT8_uc010tsp.1_Missense_Mutation_p.C41S|FUT8_uc001xir.3_Non-coding_Transcript|FUT8_uc001xip.2_Missense_Mutation_p.C204S|FUT8_uc001xiq.2_Missense_Mutation_p.C75S|FUT8_uc001xis.2_5'Flank	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 isoform a	204	Lumenal (Potential).				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)										0.366667	111.952075	113.358713	33	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66135974	66135974	6361	14	G	C	C	C	598	46	FUT8	3	3
FAM71D	161142	broad.mit.edu	37	14	67675062	67675062	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:67675062C>T	uc001xja.1	+	c.1056C>T	c.(1054-1056)ACC>ACT	p.T352T	FAM71D_uc010aqn.1_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	hypothetical protein LOC161142	352										ovary(1)	1		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)										0.242105	62.436675	68.160713	23	72	KEEP	---	---	---	---	capture		Silent	SNP	67675062	67675062	5833	14	C	T	T	T	275	22	FAM71D	2	2
SMOC1	64093	broad.mit.edu	37	14	70490078	70490078	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70490078G>T	uc001xlt.1	+	c.1205G>T	c.(1204-1206)CGG>CTG	p.R402L	SMOC1_uc001xls.1_Missense_Mutation_p.R402L	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	402	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			pancreas(1)	1				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)										0.115819	51.198206	102.600874	41	313	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70490078	70490078	15301	14	G	T	T	T	507	39	SMOC1	1	1
ADAM20	8748	broad.mit.edu	37	14	70991190	70991190	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70991190C>A	uc001xme.2	-	c.435G>T	c.(433-435)CAG>CAT	p.Q145H		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	95					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			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)										0.159763	51.111296	69.74723	27	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70991190	70991190	243	14	C	A	A	A	363	28	ADAM20	2	2
RPS6KL1	83694	broad.mit.edu	37	14	75376671	75376671	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75376671C>A	uc010tux.1	-	c.845G>T	c.(844-846)AGG>ATG	p.R282M	RPS6KL1_uc001xqx.1_Missense_Mutation_p.R34M|RPS6KL1_uc001xqw.2_Missense_Mutation_p.R251M|RPS6KL1_uc010asd.1_Non-coding_Transcript	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	282	Protein kinase.				protein phosphorylation	ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00658)						524				0.261146	101.896887	110.009117	41	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75376671	75376671	14139	14	C	A	A	A	312	24	RPS6KL1	2	2
DIO2	1734	broad.mit.edu	37	14	80669342	80669342	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:80669342G>T	uc010tvp.1	-	c.620C>A	c.(619-621)GCG>GAG	p.A207E	DIO2_uc001xut.2_Non-coding_Transcript|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvq.1_Missense_Mutation_p.A171E|DIO2_uc010tvr.1_Missense_Mutation_p.A171E|DIO2_uc010asy.2_3'UTR	NM_001007023	NP_001007024	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform b	171					hormone biosynthetic process|oxidation-reduction process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0281)								OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.2	46.147284	54.919413	21	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80669342	80669342	4704	14	G	T	T	T	494	38	DIO2	1	1
GALC	2581	broad.mit.edu	37	14	88407816	88407816	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:88407816C>A	uc001xvt.2	-	c.1757G>T	c.(1756-1758)GGT>GTT	p.G586V	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvx.1_Missense_Mutation_p.G560V|GALC_uc010tvy.1_Missense_Mutation_p.G563V|GALC_uc010tvz.1_Missense_Mutation_p.G530V	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	586					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0														0.103627	31.480573	91.825077	40	346	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88407816	88407816	6465	14	C	A	A	A	234	18	GALC	2	2
SMEK1	55671	broad.mit.edu	37	14	91927780	91927780	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:91927780C>A	uc001xzn.2	-	c.2336G>T	c.(2335-2337)GGC>GTC	p.G779V	SMEK1_uc001xzm.2_Missense_Mutation_p.G766V|SMEK1_uc001xzo.2_Missense_Mutation_p.G766V|SMEK1_uc010atz.2_Missense_Mutation_p.G540V	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	779						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)										0.145729	91.477941	139.465904	58	340	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91927780	91927780	15291	14	C	A	A	A	338	26	SMEK1	2	2
PPP4R4	57718	broad.mit.edu	37	14	94731788	94731788	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94731788C>T	uc001ycs.1	+	c.2262C>T	c.(2260-2262)CCC>CCT	p.P754P		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	754						cytoplasm|protein serine/threonine phosphatase complex	protein binding				0														0.110465	27.897564	53.712833	19	153	KEEP	---	---	---	---	capture		Silent	SNP	94731788	94731788	12841	14	C	T	T	T	301	24	PPP4R4	2	2
SERPINA11	256394	broad.mit.edu	37	14	94914953	94914953	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94914953G>T	uc001ydd.1	-	c.159C>A	c.(157-159)ACC>ACA	p.T53T		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	53					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)										0.260388	250.528099	269.263897	94	267	KEEP	---	---	---	---	capture		Silent	SNP	94914953	94914953	14576	14	G	T	T	T	600	47	SERPINA11	2	2
SERPINA9	327657	broad.mit.edu	37	14	94936027	94936027	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94936027A>T	uc001ydf.2	-	c.205T>A	c.(205-207)TTT>ATT	p.F69I	SERPINA9_uc001yde.2_Missense_Mutation_p.F69I|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.F69I|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	51					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)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)										0.269565	78.068223	83.582542	31	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94936027	94936027	14583	14	A	T	T	T	39	3	SERPINA9	3	3
SERPINA9	327657	broad.mit.edu	37	14	94936140	94936140	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94936140C>G	uc001ydf.2	-	c.92G>C	c.(91-93)GGC>GCC	p.G31A	SERPINA9_uc001yde.2_Missense_Mutation_p.G31A|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.G31A|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	13					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)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)										0.278481	141.058441	148.016086	44	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94936140	94936140	14583	14	C	G	G	G	338	26	SERPINA9	3	3
BCL11B	64919	broad.mit.edu	37	14	99641151	99641151	+	Silent	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:99641151C>G	uc001yga.2	-	c.2022G>C	c.(2020-2022)GCG>GCC	p.A674A	BCL11B_uc001ygb.2_Silent_p.A603A	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	674						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)	9		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)						98				0.314286	32.022617	33.091472	11	24	KEEP	---	---	---	---	capture		Silent	SNP	99641151	99641151	1385	14	C	G	G	G	340	27	BCL11B	3	3
TARSL2	123283	broad.mit.edu	37	15	102197168	102197168	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:102197168C>T	uc002bxm.2	-	c.2217G>A	c.(2215-2217)AAG>AAA	p.K739K	TARSL2_uc002bxl.2_3'UTR|TARSL2_uc010usi.1_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	739					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)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)											0.316667	51.322755	53.16462	19	41	KEEP	---	---	---	---	capture		Silent	SNP	102197168	102197168	16083	15	C	T	T	T	415	32	TARSL2	2	2
BUB1B	701	broad.mit.edu	37	15	40468681	40468681	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40468681C>T	uc001zkx.3	+	c.388C>T	c.(388-390)CGT>TGT	p.R130C	BUB1B_uc010ucl.1_5'UTR	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	130	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|protein phosphorylation|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)						298				0.298507	100.132503	105.005091	40	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40468681	40468681	1605	15	C	T	T	T	351	27	BUB1B	1	1
C15orf52	388115	broad.mit.edu	37	15	40628796	40628796	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40628796C>T	uc001zlh.3	-	c.998G>A	c.(997-999)AGG>AAG	p.R333K	C15orf52_uc001zli.1_3'UTR|C15orf52_uc010ucn.1_Missense_Mutation_p.R123K	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	333										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)		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)										0.087248	7.661231	33.345931	13	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40628796	40628796	1850	15	C	T	T	T	312	24	C15orf52	2	2
TGM7	116179	broad.mit.edu	37	15	43585794	43585794	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43585794T>A	uc001zrf.1	-	c.46A>T	c.(46-48)AGC>TGC	p.S16C		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	16					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)									0.232143	56.787002	64.152747	26	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43585794	43585794	16363	15	T	A	A	A	702	54	TGM7	3	3
CKMT1B	1159	broad.mit.edu	37	15	43890471	43890471	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43890471C>T	uc010uds.1	+	c.1050C>T	c.(1048-1050)AAC>AAT	p.N350N	CKMT1B_uc001zsc.2_Silent_p.N319N|CKMT1B_uc010udv.1_3'UTR|CKMT1B_uc001zsd.3_Silent_p.N319N|CKMT1B_uc010bdj.2_Non-coding_Transcript|CKMT1B_uc010udy.1_Non-coding_Transcript	NM_020990	NP_066270	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B precursor	319	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)									0.348178	255.705118	260.716298	86	161	KEEP	---	---	---	---	capture		Silent	SNP	43890471	43890471	3586	15	C	T	T	T	233	18	CKMT1B	2	2
DUOX1	53905	broad.mit.edu	37	15	45444142	45444142	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:45444142C>A	uc001zus.1	+	c.3085C>A	c.(3085-3087)CAG>AAG	p.Q1029K	DUOX1_uc001zut.1_Missense_Mutation_p.Q1029K|DUOX1_uc010bee.1_Missense_Mutation_p.Q409K|DUOX1_uc001zuu.2_Missense_Mutation_p.Q171K	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1029	Cytoplasmic (Potential).|Interaction with TXNDC11 (By similarity).				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)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)										0.276786	82.86661	87.896718	31	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45444142	45444142	4985	15	C	A	A	A	273	21	DUOX1	2	2
SLC12A1	6557	broad.mit.edu	37	15	48500307	48500307	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48500307C>A	uc001zwn.3	+	c.391C>A	c.(391-393)CTG>ATG	p.L131M	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.L131M|SLC12A1_uc010uex.1_Missense_Mutation_p.L131M	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	131	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)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)									0.239437	78.970732	87.780555	34	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48500307	48500307	14877	15	C	A	A	A	311	24	SLC12A1	2	2
USP8	9101	broad.mit.edu	37	15	50741619	50741619	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:50741619G>T	uc001zym.3	+	c.272G>T	c.(271-273)GGA>GTA	p.G91V	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Missense_Mutation_p.G91V|USP8_uc001zyn.3_Missense_Mutation_p.G91V|USP8_uc010ufh.1_Intron|USP8_uc010bev.1_5'UTR	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	91	MIT.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)										0.265306	30.850976	33.292214	13	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50741619	50741619	17653	15	G	T	T	T	533	41	USP8	2	2
UNC13C	440279	broad.mit.edu	37	15	54307745	54307745	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:54307745T>A	uc002ack.2	+	c.2645T>A	c.(2644-2646)ATG>AAG	p.M882K		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	882					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)						2691				0.319728	141.974597	146.218525	47	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54307745	54307745	17544	15	T	A	A	A	663	51	UNC13C	3	3
NEDD4	4734	broad.mit.edu	37	15	56140724	56140724	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:56140724T>C	uc002adj.2	-	c.2735A>G	c.(2734-2736)AAT>AGT	p.N912S	NEDD4_uc002adl.2_Missense_Mutation_p.N493S|NEDD4_uc002adi.2_Missense_Mutation_p.N840S|NEDD4_uc010ugj.1_Missense_Mutation_p.N896S|NEDD4_uc010bfm.2_Missense_Mutation_p.N895S|NEDD4_uc002adk.2_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	912	WW 4.|Mediates interaction with TNIK (By similarity).				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				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)										0.401961	141.351198	142.20925	41	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56140724	56140724	10709	15	T	C	C	C	676	52	NEDD4	4	4
BNIP2	663	broad.mit.edu	37	15	59961504	59961504	+	Silent	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:59961504T>A	uc010uhc.1	-	c.1128A>T	c.(1126-1128)ACA>ACT	p.T376T	BNIP2_uc002agi.3_5'Flank|BNIP2_uc010uhb.1_Silent_p.T317T	NM_004330	NP_004321	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kD interacting protein 2	255	CRAL-TRIO.				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			ovary(1)	1						Ovarian(174;1936 1978 6671 8240 38212)								0.28	79.158644	83.512173	28	72	KEEP	---	---	---	---	capture		Silent	SNP	59961504	59961504	1502	15	T	A	A	A	756	59	BNIP2	3	3
VPS13C	54832	broad.mit.edu	37	15	62264919	62264919	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:62264919T>C	uc002agz.2	-	c.2662A>G	c.(2662-2664)ACT>GCT	p.T888A	VPS13C_uc002aha.2_Missense_Mutation_p.T845A|VPS13C_uc002ahb.1_Missense_Mutation_p.T888A|VPS13C_uc002ahc.1_Missense_Mutation_p.T845A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	888					protein localization					ovary(2)	2														0.361446	206.859955	209.662694	60	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62264919	62264919	17758	15	T	C	C	C	754	58	VPS13C	4	4
C15orf60	283677	broad.mit.edu	37	15	73852136	73852136	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:73852136C>A	uc002avq.2	+	c.680C>A	c.(679-681)TCT>TAT	p.S227Y	C15orf60_uc010bjb.2_Missense_Mutation_p.S199Y	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	hypothetical protein LOC283677	227										pancreas(1)	1														0.286667	106.14548	112.282117	43	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73852136	73852136	1858	15	C	A	A	A	416	32	C15orf60	2	2
ISLR	3671	broad.mit.edu	37	15	74467708	74467708	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74467708C>T	uc002axg.1	+	c.509C>T	c.(508-510)ACC>ATC	p.T170I	ISLR_uc002axh.1_Missense_Mutation_p.T170I	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	170					cell adhesion	extracellular region				large_intestine(1)|ovary(1)	2														0.362319	71.254773	72.406295	25	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74467708	74467708	8162	15	C	T	T	T	234	18	ISLR	2	2
MAN2C1	4123	broad.mit.edu	37	15	75650895	75650895	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75650895C>T	uc002baf.2	-	c.2311G>A	c.(2311-2313)GCC>ACC	p.A771T	MAN2C1_uc002bag.2_Missense_Mutation_p.A771T|MAN2C1_uc002bah.2_Missense_Mutation_p.A788T|MAN2C1_uc010bkk.2_Missense_Mutation_p.A672T	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	771					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0														0.186441	37.763912	48.667006	22	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75650895	75650895	9601	15	C	T	T	T	351	27	MAN2C1	1	1
CPEB1	64506	broad.mit.edu	37	15	83215961	83215961	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83215961G>A	uc002bit.2	-	c.1621C>T	c.(1621-1623)CAA>TAA	p.Q541*	CPEB1_uc002biq.2_Nonsense_Mutation_p.Q401*|CPEB1_uc002bir.2_Nonsense_Mutation_p.Q406*|CPEB1_uc002bis.2_Nonsense_Mutation_p.Q401*|CPEB1_uc010uod.1_Nonsense_Mutation_p.Q250*|CPEB1_uc010uoe.1_Nonsense_Mutation_p.Q479*|CPEB1_uc002biu.2_Nonsense_Mutation_p.Q503*|CPEB1_uc010uof.1_Nonsense_Mutation_p.Q401*|CPEB1_uc002biv.2_Nonsense_Mutation_p.Q476*|CPEB1_uc002bip.2_Nonsense_Mutation_p.Q250*	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	481	RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)											0.29703	87.41147	91.13134	30	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	83215961	83215961	3938	15	G	A	A	A	611	47	CPEB1	5	2
SH3GL3	6457	broad.mit.edu	37	15	84237394	84237394	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:84237394G>T	uc002bju.2	+	c.325G>T	c.(325-327)GGG>TGG	p.G109W	SH3GL3_uc010uot.1_Missense_Mutation_p.G101W|SH3GL3_uc002bjw.2_Missense_Mutation_p.G101W|SH3GL3_uc002bjx.2_Missense_Mutation_p.G32W|SH3GL3_uc002bjv.2_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	101	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|pancreas(1)	2														0.330275	106.06525	108.846939	36	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84237394	84237394	14744	15	G	T	T	T	507	39	SH3GL3	1	1
ZNF592	9640	broad.mit.edu	37	15	85326477	85326477	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:85326477G>C	uc002bld.2	+	c.571G>C	c.(571-573)GTT>CTT	p.V191L	ZNF592_uc010upb.1_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	191					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4			BRCA - Breast invasive adenocarcinoma(143;0.0587)											0.335821	309.173585	315.561743	90	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85326477	85326477	18617	15	G	C	C	C	572	44	ZNF592	3	3
AGBL1	123624	broad.mit.edu	37	15	86838537	86838537	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:86838537C>A	uc002blz.1	+	c.2134C>A	c.(2134-2136)CGG>AGG	p.R712R	AGBL1_uc002bma.1_Silent_p.R443R|AGBL1_uc002bmb.1_Silent_p.R406R	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	712					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0														0.297521	99.55156	103.987402	36	85	KEEP	---	---	---	---	capture		Silent	SNP	86838537	86838537	377	15	C	A	A	A	295	23	AGBL1	1	1
CRAMP1L	57585	broad.mit.edu	37	16	1706003	1706003	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1706003G>T	uc010uvh.1	+	c.1245G>T	c.(1243-1245)GTG>GTT	p.V415V	CRAMP1L_uc002cmf.2_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	415						nucleus	DNA binding				0														0.166667	10.257647	13.416635	5	25	KEEP	---	---	---	---	capture		Silent	SNP	1706003	1706003	3985	16	G	T	T	T	600	47	CRAMP1L	2	2
GPR139	124274	broad.mit.edu	37	16	20043655	20043655	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20043655G>T	uc002dgu.1	-	c.464C>A	c.(463-465)ACC>AAC	p.T155N	GPR139_uc010vaw.1_Missense_Mutation_p.T62N	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	155	Helical; Name=4; (Potential).					integral to membrane|plasma membrane				ovary(2)	2														0.202073	92.717227	108.631959	39	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20043655	20043655	6922	16	G	T	T	T	572	44	GPR139	2	2
UMOD	7369	broad.mit.edu	37	16	20360484	20360484	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20360484C>A	uc002dhb.2	-	c.238G>T	c.(238-240)GTT>TTT	p.V80F	UMOD_uc002dgz.2_Missense_Mutation_p.V47F|UMOD_uc002dha.2_Missense_Mutation_p.V47F	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	47	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														0.171429	27.956861	35.099352	12	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20360484	20360484	17537	16	C	A	A	A	247	19	UMOD	1	1
PDILT	204474	broad.mit.edu	37	16	20380897	20380897	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20380897C>A	uc002dhc.1	-	c.1033G>T	c.(1033-1035)GCC>TCC	p.A345S		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	345					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1														0.187692	139.195336	168.870606	61	264	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20380897	20380897	12095	16	C	A	A	A	351	27	PDILT	1	1
OTOA	146183	broad.mit.edu	37	16	21737980	21737980	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21737980G>T	uc002djh.2	+	c.2016_splice	c.e18+1	p.L672_splice	OTOA_uc010vbj.1_Splice_Site_SNP_p.L593_splice|OTOA_uc002dji.2_Splice_Site_SNP_p.L348_splice|OTOA_uc010vbk.1_Splice_Site_SNP_p.L320_splice	NM_144672	NP_653273			otoancorin isoform 1						sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0414)										0.163043	64.923981	84.796789	30	154	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	21737980	21737980	11714	16	G	T	T	T	572	44	OTOA	5	2
PDZD9	255762	broad.mit.edu	37	16	21999929	21999929	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21999929A>C	uc002dka.1	-	c.209T>G	c.(208-210)GTA>GGA	p.V70G		NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	hypothetical protein LOC255762	132										pancreas(1)	1														0.263158	110.87184	117.613409	35	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21999929	21999929	12127	16	A	C	C	C	182	14	PDZD9	4	4
PALB2	79728	broad.mit.edu	37	16	23634330	23634330	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23634330C>A	uc002dlx.1	-	c.2956G>T	c.(2956-2958)GAT>TAT	p.D986Y		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	986	Interaction with RAD51 and BRCA2.|WD 3.				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				GBM - Glioblastoma multiforme(48;0.0167)						263				0.203704	122.970783	144.976822	55	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23634330	23634330	11822	16	C	A	A	A	377	29	PALB2	2	2
ERN2	10595	broad.mit.edu	37	16	23713521	23713521	+	Silent	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23713521T>C	uc002dma.3	-	c.1299A>G	c.(1297-1299)GCA>GCG	p.A433A	ERN2_uc010bxp.2_Silent_p.A433A|ERN2_uc010bxq.1_Silent_p.A241A	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	385	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				GBM - Glioblastoma multiforme(48;0.0156)						225				0.261981	231.490731	247.55031	82	231	KEEP	---	---	---	---	capture		Silent	SNP	23713521	23713521	5431	16	T	C	C	C	704	55	ERN2	4	4
PRKCB	5579	broad.mit.edu	37	16	24046867	24046867	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24046867C>A	uc002dme.2	+	c.528C>A	c.(526-528)CTC>CTA	p.L176L	PRKCB_uc002dmd.2_Silent_p.L176L	NM_002738	NP_002729	P05771	KPCB_HUMAN	protein kinase C, beta isoform 2	176	C2.				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				0.154362	42.056098	59.053189	23	126	KEEP	---	---	---	---	capture		Silent	SNP	24046867	24046867	12951	16	C	A	A	A	392	31	PRKCB	1	1
RBBP6	5930	broad.mit.edu	37	16	24578506	24578506	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24578506G>C	uc002dmh.2	+	c.1632G>C	c.(1630-1632)AGG>AGC	p.R544S	RBBP6_uc010vcb.1_Missense_Mutation_p.R411S|RBBP6_uc002dmi.2_Missense_Mutation_p.R544S|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.R411S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)										0.156757	67.652687	88.451005	29	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24578506	24578506	13564	16	G	C	C	C	529	41	RBBP6	3	3
SLC5A11	115584	broad.mit.edu	37	16	24895432	24895432	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24895432C>T	uc002dmu.2	+	c.644C>T	c.(643-645)GCG>GTG	p.A215V	SLC5A11_uc002dms.2_Missense_Mutation_p.A151V|SLC5A11_uc010vcd.1_Missense_Mutation_p.A180V|SLC5A11_uc002dmt.2_Missense_Mutation_p.A151V|SLC5A11_uc010vce.1_Missense_Mutation_p.A145V|SLC5A11_uc010bxt.2_Missense_Mutation_p.A151V	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	215	Helical; (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)										0.166667	130.991241	174.552509	69	345	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24895432	24895432	15160	16	C	T	T	T	351	27	SLC5A11	1	1
APOB48R	55911	broad.mit.edu	37	16	28509228	28509228	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28509228G>T	uc002dqb.1	+	c.2839G>T	c.(2839-2841)GCA>TCA	p.A947S	APOB48R_uc010byg.1_Missense_Mutation_p.A485S	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	947	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0														0.219512	20.897641	23.837946	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28509228	28509228	797	16	G	T	T	T	598	46	APOB48R	2	2
SH2B1	25970	broad.mit.edu	37	16	28878264	28878264	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28878264G>T	uc002dri.2	+	c.849G>T	c.(847-849)GGG>GGT	p.G283G	SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Silent_p.G283G|SH2B1_uc002drk.2_Silent_p.G283G|SH2B1_uc002drl.2_Silent_p.G283G|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Silent_p.G283G|SH2B1_uc002drm.2_Silent_p.G283G	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	283	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2														0.2	21.96496	26.994442	12	48	KEEP	---	---	---	---	capture		Silent	SNP	28878264	28878264	14718	16	G	T	T	T	535	42	SH2B1	2	2
ATP2A1	487	broad.mit.edu	37	16	28898990	28898990	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28898990C>T	uc002dro.1	+	c.875C>T	c.(874-876)GCC>GTC	p.A292V	ATP2A1_uc002drn.1_Missense_Mutation_p.A292V|ATP2A1_uc002drp.1_Missense_Mutation_p.A167V|ATP2A1_uc010bym.1_5'Flank	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	292	Lumenal (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														0.097959	5.95151	45.52144	24	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28898990	28898990	1155	16	C	T	T	T	338	26	ATP2A1	2	2
SPN	6693	broad.mit.edu	37	16	29675148	29675148	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:29675148G>T	uc002dtm.2	+	c.99G>T	c.(97-99)TTG>TTT	p.L33F	BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.L33F|SPN_uc010bzd.2_Non-coding_Transcript	NM_001030288	NP_001025459	P16150	LEUK_HUMAN	sialophorin precursor	33	Extracellular (Potential).				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)	2														0.245353	160.593498	176.606162	66	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29675148	29675148	15586	16	G	T	T	T	607	47	SPN	2	2
SEZ6L2	26470	broad.mit.edu	37	16	29897071	29897071	+	Splice_Site_SNP	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:29897071C>T	uc010vec.1	-	c.1209_splice	c.e8-1	p.R403_splice	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Splice_Site_SNP_p.R333_splice|SEZ6L2_uc002dur.3_Splice_Site_SNP_p.R333_splice|SEZ6L2_uc002duq.3_Splice_Site_SNP_p.R403_splice|SEZ6L2_uc002dus.3_Splice_Site_SNP_p.R289_splice|SEZ6L2_uc010ved.1_Splice_Site_SNP_p.R359_splice	NM_201575	NP_963869			seizure related 6 homolog (mouse)-like 2 isoform							endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)	1														0.195876	48.168432	56.530052	19	78	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	29897071	29897071	14633	16	C	T	T	T	312	24	SEZ6L2	5	2
ARMC5	79798	broad.mit.edu	37	16	31471201	31471201	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31471201C>T	uc010vfn.1	+	c.641C>T	c.(640-642)CCT>CTT	p.P214L	ARMC5_uc010vfo.1_Missense_Mutation_p.P151L|ARMC5_uc002ecc.2_Missense_Mutation_p.P119L|ARMC5_uc002eca.3_Missense_Mutation_p.P119L|ARMC5_uc010vfp.1_Missense_Mutation_p.P119L|ARMC5_uc002ecb.2_Missense_Mutation_p.P119L	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	119							binding			pancreas(1)	1														0.18	21.053733	25.861295	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31471201	31471201	972	16	C	T	T	T	312	24	ARMC5	2	2
ARMC5	79798	broad.mit.edu	37	16	31473953	31473953	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31473953G>C	uc010vfn.1	+	c.1370G>C	c.(1369-1371)CGG>CCG	p.R457P	ARMC5_uc010vfo.1_Missense_Mutation_p.R394P|ARMC5_uc002ecc.2_Missense_Mutation_p.R362P|ARMC5_uc002eca.3_Missense_Mutation_p.R362P|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Missense_Mutation_p.R362P	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	362	ARM 6.						binding			pancreas(1)	1														0.264368	58.678953	63.052585	23	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31473953	31473953	972	16	G	C	C	C	507	39	ARMC5	3	3
PDIA2	64714	broad.mit.edu	37	16	333356	333356	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:333356C>A	uc002cgn.1	+	c.187C>A	c.(187-189)CTG>ATG	p.L63M	PDIA2_uc010bqt.1_De_novo_Start_OutOfFrame|PDIA2_uc002cgo.1_Missense_Mutation_p.L63M	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	protein disulfide isomerase A2 precursor	63	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)												0.327869	55.476618	57.080641	20	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	333356	333356	12089	16	C	A	A	A	363	28	PDIA2	2	2
VPS35	55737	broad.mit.edu	37	16	46715307	46715307	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:46715307C>G	uc002eef.3	-	c.305G>C	c.(304-306)GGA>GCA	p.G102A	VPS35_uc002eed.2_5'Flank|VPS35_uc002eee.2_Missense_Mutation_p.G63A	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	102					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)												0.149425	55.626448	76.154566	26	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46715307	46715307	17770	16	C	G	G	G	390	30	VPS35	3	3
NAGPA	51172	broad.mit.edu	37	16	5078049	5078049	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:5078049C>A	uc002cyg.2	-	c.1058G>T	c.(1057-1059)CGG>CTG	p.R353L	NAGPA_uc010buc.2_Missense_Mutation_p.R84L|NAGPA_uc002cyf.2_Intron|NAGPA_uc002cyh.2_Non-coding_Transcript|NAGPA_uc002cyi.2_Missense_Mutation_p.R128L	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	353	Lumenal (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)									0.2	28.068226	33.089722	12	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5078049	5078049	10540	16	C	A	A	A	299	23	NAGPA	1	1
CNOT1	23019	broad.mit.edu	37	16	58616700	58616700	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:58616700T>A	uc002env.2	-	c.1041A>T	c.(1039-1041)GAA>GAT	p.E347D	CNOT1_uc002enw.2_Non-coding_Transcript|CNOT1_uc002enu.3_Missense_Mutation_p.E347D|CNOT1_uc002enx.2_Missense_Mutation_p.E347D|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	347					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)										0.1875	66.664234	81.288909	30	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58616700	58616700	3755	16	T	A	A	A	777	60	CNOT1	3	3
RLTPR	146206	broad.mit.edu	37	16	67680671	67680671	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67680671G>A	uc002etn.2	+	c.521G>A	c.(520-522)CGA>CAA	p.R174Q	RLTPR_uc010cel.1_Missense_Mutation_p.R174Q|RLTPR_uc010vjr.1_Missense_Mutation_p.R174Q	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	174										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)										0.106977	22.103634	55.030355	23	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67680671	67680671	13871	16	G	A	A	A	481	37	RLTPR	1	1
CDH1	999	broad.mit.edu	37	16	68849475	68849475	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68849475G>T	uc002ewg.1	+	c.1378G>T	c.(1378-1380)GTA>TTA	p.V460L	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.V399L	NM_004360	NP_004351	P12830	CADH1_HUMAN	cadherin 1, type 1 preproprotein	460	Cadherin 3.|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	p.Y380_K440del(3)|p.G441_E463del(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)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)						231				0.2	70.480302	83.821127	32	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68849475	68849475	3224	16	G	T	T	T	572	44	CDH1	2	2
HYDIN	54768	broad.mit.edu	37	16	70897063	70897063	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70897063G>T	uc002ezr.2	-	c.11491C>A	c.(11491-11493)CGT>AGT	p.R3831S	HYDIN_uc010cfy.2_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3832										ovary(1)	1		Ovarian(137;0.0654)												0.24	52.31247	56.939305	18	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70897063	70897063	7767	16	G	T	T	T	520	40	HYDIN	1	1
HYDIN	54768	broad.mit.edu	37	16	70908208	70908208	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70908208C>A	uc002ezr.2	-	c.10945G>T	c.(10945-10947)GCT>TCT	p.A3649S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3650										ovary(1)	1		Ovarian(137;0.0654)												0.143885	66.310088	100.26282	40	238	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70908208	70908208	7767	16	C	A	A	A	312	24	HYDIN	2	2
CNTNAP4	85445	broad.mit.edu	37	16	76486483	76486484	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:76486483_76486484CC>AG	uc002fex.1	+	c.1159_1160CC>AG	c.(1159-1161)CCA>AGA	p.P387R	CNTNAP4_uc002feu.1_Missense_Mutation_p.P384R|CNTNAP4_uc002fev.1_Missense_Mutation_p.P248R|CNTNAP4_uc010chb.1_Missense_Mutation_p.P311R|CNTNAP4_uc002few.2_Missense_Mutation_p.P359R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	384	Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2														0.204301	92.740732	107.835452	38	148	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	76486483	76486484	3787	16	CC	AG	AG	AG	338	26	CNTNAP4	2	2
MSLN	10232	broad.mit.edu	37	16	815525	815525	+	Splice_Site_SNP	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:815525A>T	uc002cjw.1	+	c.705_splice	c.e9-2	p.G235_splice	MSLN_uc002cjt.1_Splice_Site_SNP_p.G235_splice|MSLN_uc002cju.1_Splice_Site_SNP_p.G235_splice|MSLN_uc010brd.1_Splice_Site_SNP_p.G234_splice|MSLN_uc002cjv.1_Splice_Site_SNP_p.G235_splice|MSLN_uc002cjx.1_Splice_Site_SNP_p.G235_splice|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536			mesothelin isoform 2 preproprotein						cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)												0.301887	43.383229	45.238862	16	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	815525	815525	10274	16	A	T	T	T	91	7	MSLN	5	3
MLYCD	23417	broad.mit.edu	37	16	83933047	83933047	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:83933047G>T	uc002fgz.2	+	c.298G>T	c.(298-300)GGC>TGC	p.G100C		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	100					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0														0.333333	14.475878	14.841958	5	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83933047	83933047	10028	16	G	T	T	T	507	39	MLYCD	1	1
CRISPLD2	83716	broad.mit.edu	37	16	84906614	84906614	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:84906614G>C	uc010voh.1	+	c.998G>C	c.(997-999)CGC>CCC	p.R333P	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Missense_Mutation_p.R332P|CRISPLD2_uc002fim.2_Missense_Mutation_p.R333P|CRISPLD2_uc002fin.3_Missense_Mutation_p.R333P	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	333	LCCL 1.					extracellular region|transport vesicle					0														0.130435	42.728293	70.384794	27	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84906614	84906614	4022	16	G	C	C	C	494	38	CRISPLD2	3	3
FAM92B	339145	broad.mit.edu	37	16	85139044	85139044	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:85139044C>A	uc010vok.1	-	c.427_splice	c.e5-1	p.S143_splice		NM_198491	NP_940893			hypothetical protein LOC339145											central_nervous_system(1)	1														0.163043	26.674109	36.597011	15	77	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	85139044	85139044	5889	16	C	A	A	A	286	22	FAM92B	5	2
C16orf3	750	broad.mit.edu	37	16	90095676	90095676	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:90095676C>T	uc002fqk.1	-	c.75G>A	c.(73-75)AAG>AAA	p.K25K	GAS8_uc010vps.1_Intron|GAS8_uc002fqh.2_Intron|GAS8_uc010vpt.1_Intron|GAS8_uc010vpu.1_Intron|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_Intron|GAS8_uc002fqi.1_Intron|GAS8_uc010vpw.1_Intron|GAS8_uc002fqj.1_Intron	NM_001214	NP_001205	O95177	CP003_HUMAN	hypothetical protein LOC750	25											0		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)										0.072289	-1.740191	29.522091	12	154	KEEP	---	---	---	---	capture		Silent	SNP	90095676	90095676	1864	16	C	T	T	T	415	32	C16orf3	2	2
MYH1	4619	broad.mit.edu	37	17	10399714	10399714	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10399714G>T	uc002gmo.2	-	c.4809C>A	c.(4807-4809)AGC>AGA	p.S1603R		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1603	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				0.328125	366.822514	376.879329	126	258	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10399714	10399714	10424	17	G	T	T	T	594	46	MYH1	2	2
MYH2	4620	broad.mit.edu	37	17	10448802	10448802	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10448802G>A	uc010coi.2	-	c.366C>T	c.(364-366)TTC>TTT	p.F122F	MYH2_uc002gmp.3_Silent_p.F122F|MYH2_uc010coj.2_Silent_p.F122F	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	122	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														0.356643	154.184197	156.773457	51	92	KEEP	---	---	---	---	capture		Silent	SNP	10448802	10448802	10430	17	G	A	A	A	425	33	MYH2	2	2
DNAH9	1770	broad.mit.edu	37	17	11726350	11726350	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11726350A>T	uc002gne.2	+	c.9245A>T	c.(9244-9246)CAG>CTG	p.Q3082L	DNAH9_uc010coo.2_Missense_Mutation_p.Q2376L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3082	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)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.375	27.468982	27.798257	9	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11726350	11726350	4791	17	A	T	T	T	91	7	DNAH9	3	3
MAP2K3	5606	broad.mit.edu	37	17	21201787	21201787	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:21201787C>A	uc002gys.2	+	c.112C>A	c.(112-114)CCC>ACC	p.P38T	MAP2K3_uc002gyt.2_Missense_Mutation_p.P9T|MAP2K3_uc002gyu.2_Missense_Mutation_p.P9T	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	38					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)						346				0.104027	19.591294	66.12156	31	267	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21201787	21201787	9621	17	C	A	A	A	286	22	MAP2K3	2	2
KCNJ12	3768	broad.mit.edu	37	17	21318931	21318931	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:21318931G>T	uc002gyv.1	+	c.277G>T	c.(277-279)GCC>TCC	p.A93S		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	93	Helical; Name=M1; (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)	3				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)						Prostate(3;0.18)			0.138889	13.891794	22.993319	10	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21318931	21318931	8351	17	G	T	T	T	598	46	KCNJ12	2	2
LGALS9	3965	broad.mit.edu	37	17	25967657	25967657	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:25967657C>T	uc002gzp.2	+	c.191C>T	c.(190-192)CCT>CTT	p.P64L	LGALS9_uc002gzq.2_Missense_Mutation_p.P64L|LGALS9_uc002gzr.2_Intron|LGALS9_uc010waa.1_Intron|LGALS9_uc002gzs.2_Missense_Mutation_p.P64L	NM_009587	NP_033665	O00182	LEG9_HUMAN	galectin-9 isoform long	64	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity				0	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)								0.313084	200.049984	206.703333	67	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25967657	25967657	9074	17	C	T	T	T	312	24	LGALS9	2	2
MYO1D	4642	broad.mit.edu	37	17	31105502	31105502	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:31105502C>A	uc002hho.1	-	c.394G>T	c.(394-396)GAA>TAA	p.E132*	MYO1D_uc002hhp.1_Nonsense_Mutation_p.E132*|MYO1D_uc010wcb.1_Nonsense_Mutation_p.E132*	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	132	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)											0.227273	81.939516	92.457901	35	119	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31105502	31105502	10466	17	C	A	A	A	377	29	MYO1D	5	2
OR3A3	8392	broad.mit.edu	37	17	3324705	3324705	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3324705G>T	uc010vrd.1	+	c.844G>T	c.(844-846)GGG>TGG	p.G282W		NM_012373	NP_036505	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.233184	128.298365	142.822282	52	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3324705	3324705	11445	17	G	T	T	T	559	43	OR3A3	2	2
PIP4K2B	8396	broad.mit.edu	37	17	36935738	36935738	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:36935738C>T	uc002hqs.2	-	c.552G>A	c.(550-552)CTG>CTA	p.L184L	PIP4K2B_uc010wdt.1_Silent_p.L184L|PIP4K2B_uc010wdu.1_Silent_p.L120L	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	184	PIPK.				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				0.299213	98.771128	103.366118	38	89	KEEP	---	---	---	---	capture		Silent	SNP	36935738	36935738	12361	17	C	T	T	T	262	21	PIP4K2B	2	2
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37868208C>T	uc002hso.2	+	c.929C>T	c.(928-930)TCC>TTC	p.S310F	ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	310	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	p.S310F(2)		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)	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)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)			1	p.S310F(5637-Tumor)	271	TCGA GBM(5;<1E-8)			0.31203	470.532547	487.22747	166	366	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37868208	37868208	5399	17	C	T	T	T	390	30	ERBB2	2	2
NKIRAS2	28511	broad.mit.edu	37	17	40175884	40175884	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40175884C>T	uc002hyq.2	+	c.549C>T	c.(547-549)AAC>AAT	p.N183N	NKIRAS2_uc010wgd.1_3'UTR|NKIRAS2_uc002hyr.2_Silent_p.N183N|NKIRAS2_uc002hys.2_Silent_p.N183N|NKIRAS2_uc010wge.1_Silent_p.N127N|NKIRAS2_uc002hyt.2_Silent_p.N183N	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2 isoform a	183	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			ovary(1)	1		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)												0.350515	89.61532	91.529789	34	63	KEEP	---	---	---	---	capture		Silent	SNP	40175884	40175884	10846	17	C	T	T	T	220	17	NKIRAS2	2	2
ITGA2B	3674	broad.mit.edu	37	17	42455747	42455747	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42455747C>A	uc002igt.1	-	c.2077G>T	c.(2077-2079)GCC>TCC	p.A693S	ITGA2B_uc002igu.1_Missense_Mutation_p.A174S	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	693	Extracellular (Potential).				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)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)									0.263158	24.258246	26.172362	10	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42455747	42455747	8180	17	C	A	A	A	338	26	ITGA2B	2	2
USP6	9098	broad.mit.edu	37	17	5045714	5045714	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5045714G>A	uc002gau.1	+	c.1735G>A	c.(1735-1737)GGG>AGG	p.G579R	USP6_uc002gav.1_Missense_Mutation_p.G579R|USP6_uc010ckz.1_Missense_Mutation_p.G262R	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	579					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				0.240964	53.557574	58.639369	20	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5045714	5045714	17650	17	G	A	A	A	559	43	USP6	2	2
EPX	8288	broad.mit.edu	37	17	56270730	56270730	+	Splice_Site_SNP	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56270730A>T	uc002ivq.2	+	c.171_splice	c.e3-2	p.S57_splice		NM_000502	NP_000493			eosinophil peroxidase preproprotein						hydrogen peroxide catabolic process|oxidation-reduction process		heme binding|peroxidase activity|protein binding			ovary(2)	2														0.18306	152.109657	186.619177	67	299	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	56270730	56270730	5393	17	A	T	T	T	91	7	EPX	5	3
BRIP1	83990	broad.mit.edu	37	17	59760806	59760806	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:59760806T>C	uc002izk.1	-	c.3601A>G	c.(3601-3603)ATT>GTT	p.I1201V		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1201					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1										346				0.344538	141.349104	143.884425	41	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59760806	59760806	1545	17	T	C	C	C	637	49	BRIP1	4	4
INTS2	57508	broad.mit.edu	37	17	59962347	59962347	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:59962347G>A	uc002izn.2	-	c.2028C>T	c.(2026-2028)CCC>CCT	p.P676P	INTS2_uc002izm.2_Silent_p.P668P	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	676					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3														0.375	38.193772	38.632117	12	20	KEEP	---	---	---	---	capture		Silent	SNP	59962347	59962347	8079	17	G	A	A	A	600	47	INTS2	2	2
SCN4A	6329	broad.mit.edu	37	17	62018710	62018710	+	Silent	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62018710C>G	uc002jds.1	-	c.4932G>C	c.(4930-4932)GTG>GTC	p.V1644V		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1644					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.19685	60.394722	71.274592	25	102	KEEP	---	---	---	---	capture		Silent	SNP	62018710	62018710	14402	17	C	G	G	G	262	21	SCN4A	3	3
ABCA9	10350	broad.mit.edu	37	17	67039769	67039769	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67039769C>A	uc002jhu.2	-	c.661G>T	c.(661-663)GTT>TTT	p.V221F	ABCA9_uc010dez.2_Missense_Mutation_p.V221F|ABCA9_uc002jhv.2_Missense_Mutation_p.V221F	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	221	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|central_nervous_system(1)	5	Breast(10;1.47e-12)													0.208122	96.484123	112.015694	41	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67039769	67039769	40	17	C	A	A	A	260	20	ABCA9	2	2
ABCA10	10349	broad.mit.edu	37	17	67151277	67151277	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67151277C>A	uc010dfa.1	-	c.3577G>T	c.(3577-3579)GAA>TAA	p.E1193*	ABCA10_uc010wqs.1_Nonsense_Mutation_p.E185*|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1193					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;6.95e-12)													0.276596	66.407602	70.631822	26	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	67151277	67151277	30	17	C	A	A	A	390	30	ABCA10	5	2
TNRC6C	57690	broad.mit.edu	37	17	76047196	76047196	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:76047196G>A	uc002juf.2	+	c.2053G>A	c.(2053-2055)GTG>ATG	p.V685M	TNRC6C_uc002jud.2_Missense_Mutation_p.V685M|TNRC6C_uc002jue.2_Missense_Mutation_p.V685M	NM_001142640	NP_001136112	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 1	685	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			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)											0.294118	13.167618	13.812925	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76047196	76047196	16883	17	G	A	A	A	624	48	TNRC6C	2	2
TMC6	11322	broad.mit.edu	37	17	76113395	76113395	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:76113395C>A	uc002juj.1	-	c.2232G>T	c.(2230-2232)CGG>CGT	p.R744R	TMC6_uc002jui.1_Silent_p.R323R|TMC6_uc010dhf.1_Silent_p.R577R|TMC6_uc002juk.2_Silent_p.R744R|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.R744R	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	744	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)											0.204301	84.078426	99.148199	38	148	KEEP	---	---	---	---	capture		Silent	SNP	76113395	76113395	16519	17	C	A	A	A	275	22	TMC6	2	2
ACTG1	71	broad.mit.edu	37	17	79479156	79479156	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:79479156C>A	uc002kaj.1	-	c.136G>T	c.(136-138)GGC>TGC	p.G46C	ACTG1_uc002kah.1_5'Flank|ACTG1_uc002kai.1_Missense_Mutation_p.G3C|ACTG1_uc002kak.1_Missense_Mutation_p.G46C|ACTG1_uc010wun.1_Missense_Mutation_p.G46C|ACTG1_uc002kal.1_Missense_Mutation_p.G46C|ACTG1_uc002kag.2_Non-coding_Transcript	NM_001614	NP_001605	P63261	ACTG_HUMAN	actin, gamma 1 propeptide	46					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)											0.302198	145.876265	152.222949	55	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79479156	79479156	197	17	C	A	A	A	286	22	ACTG1	2	2
METTL4	64863	broad.mit.edu	37	18	2566948	2566948	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:2566948G>A	uc002klh.3	-	c.268C>T	c.(268-270)CCT>TCT	p.P90S		NM_022840	NP_073751	Q8N3J2	METL4_HUMAN	methyltransferase like 4	90					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding			kidney(1)|skin(1)	2														0.161765	42.960851	57.761835	22	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2566948	2566948	9892	18	G	A	A	A	572	44	METTL4	2	2
EMILIN2	84034	broad.mit.edu	37	18	2891215	2891215	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:2891215G>T	uc002kln.2	+	c.1090G>T	c.(1090-1092)GGA>TGA	p.G364*		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	364					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.1)										0.207792	74.019853	86.197335	32	122	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	2891215	2891215	5286	18	G	T	T	T	559	43	EMILIN2	5	2
DSG1	1828	broad.mit.edu	37	18	28934274	28934274	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28934274C>A	uc002kwp.2	+	c.2115C>A	c.(2113-2115)TAC>TAA	p.Y705*	DSG1_uc010xbp.1_Nonsense_Mutation_p.Y64*	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	705	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			OV - Ovarian serous cystadenocarcinoma(10;0.00559)											0.07027	-3.583159	31.680339	13	172	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	28934274	28934274	4960	18	C	A	A	A	246	19	DSG1	5	1
DSG3	1830	broad.mit.edu	37	18	29046538	29046538	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29046538C>A	uc002kws.2	+	c.1457C>A	c.(1456-1458)CCC>CAC	p.P486H		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	486	Cadherin 4.|Extracellular (Potential).				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			OV - Ovarian serous cystadenocarcinoma(10;0.00504)											0.086275	6.06548	50.273618	22	233	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29046538	29046538	4962	18	C	A	A	A	286	22	DSG3	2	2
ASXL3	80816	broad.mit.edu	37	18	31323228	31323228	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:31323228C>A	uc010dmg.1	+	c.3416C>A	c.(3415-3417)CCT>CAT	p.P1139H	ASXL3_uc002kxq.2_Missense_Mutation_p.P846H	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3														0.172414	19.412933	25.295135	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31323228	31323228	1087	18	C	A	A	A	312	24	ASXL3	2	2
SETBP1	26040	broad.mit.edu	37	18	42533120	42533120	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:42533120G>C	uc010dni.2	+	c.3815G>C	c.(3814-3816)AGC>ACC	p.S1272T		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1272						nucleus	DNA binding			large_intestine(1)	1				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)										0.224138	35.545526	39.601337	13	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42533120	42533120	14617	18	G	C	C	C	442	34	SETBP1	3	3
ALPK2	115701	broad.mit.edu	37	18	56203934	56203934	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56203934G>T	uc002lhj.3	-	c.3485C>A	c.(3484-3486)GCT>GAT	p.A1162D	ALPK2_uc002lhk.1_Missense_Mutation_p.A493D	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1162					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343				0.182203	83.77628	106.172857	43	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56203934	56203934	548	18	G	T	T	T	442	34	ALPK2	2	2
ALPK2	115701	broad.mit.edu	37	18	56247124	56247124	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:56247124G>C	uc002lhj.3	-	c.884C>G	c.(883-885)CCC>CGC	p.P295R		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	295					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11										343		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.108844	16.992243	39.187871	16	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56247124	56247124	548	18	G	C	C	C	559	43	ALPK2	3	3
KIAA1468	57614	broad.mit.edu	37	18	59942667	59942667	+	Silent	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59942667T>A	uc002lil.2	+	c.2928T>A	c.(2926-2928)ACT>ACA	p.T976T	KIAA1468_uc002lik.1_Silent_p.T972T|KIAA1468_uc010xel.1_Silent_p.T976T|KIAA1468_uc002lim.2_Silent_p.T654T	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	976							binding			ovary(2)|breast(2)|large_intestine(1)	5		Colorectal(73;0.186)												0.211864	56.801968	65.867314	25	93	KEEP	---	---	---	---	capture		Silent	SNP	59942667	59942667	8545	18	T	A	A	A	717	56	KIAA1468	3	3
NETO1	81832	broad.mit.edu	37	18	70423369	70423369	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:70423369G>T	uc002lkw.2	-	c.882C>A	c.(880-882)GGC>GGA	p.G294G	NETO1_uc002lkx.1_Silent_p.G293G|NETO1_uc002lky.1_Silent_p.G294G	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	294	LDL-receptor class A.|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)		READ - Rectum adenocarcinoma(1;0.0487)										0.244275	82.933406	90.740133	32	99	KEEP	---	---	---	---	capture		Silent	SNP	70423369	70423369	10738	18	G	T	T	T	587	46	NETO1	2	2
ZNF236	7776	broad.mit.edu	37	18	74672732	74672732	+	Nonsense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74672732C>G	uc002lmi.2	+	c.5334C>G	c.(5332-5334)TAC>TAG	p.Y1778*	ZNF236_uc002lmj.2_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1778	C2H2-type 30.				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)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)										0.09375	13.602839	34.832577	12	116	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	74672732	74672732	18380	18	C	G	G	G	220	17	ZNF236	5	3
QTRT1	81890	broad.mit.edu	37	19	10822872	10822872	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10822872G>C	uc002mpr.2	+	c.682G>C	c.(682-684)GGG>CGG	p.G228R	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	228					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity				0			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)											0.305556	163.160047	169.228559	55	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10822872	10822872	13343	19	G	C	C	C	507	39	QTRT1	3	3
SMARCA4	6597	broad.mit.edu	37	19	11145653	11145653	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11145653G>T	uc010dxo.2	+	c.4015G>T	c.(4015-4017)GAG>TAG	p.E1339*	SMARCA4_uc002mqf.3_Nonsense_Mutation_p.E1339*|SMARCA4_uc010dxp.2_Nonsense_Mutation_p.E1339*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.E1306*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.E1306*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.E1306*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.E1306*|SMARCA4_uc010dxt.1_Nonsense_Mutation_p.E526*|SMARCA4_uc002mqh.3_Nonsense_Mutation_p.E429*|SMARCA4_uc002mqi.1_Nonsense_Mutation_p.E509*	NM_001128849	NP_001122321	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1339					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)								582				0.411765	18.920124	19.036097	7	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11145653	11145653	15268	19	G	T	T	T	533	41	SMARCA4	5	2
IL27RA	9466	broad.mit.edu	37	19	14153294	14153294	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14153294G>T	uc002mxx.2	+	c.564G>T	c.(562-564)CTG>CTT	p.L188L		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	188	Extracellular (Potential).|Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						Colon(164;1849 1896 4443 37792 47834)						OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.291291	245.992049	259.021082	97	236	KEEP	---	---	---	---	capture		Silent	SNP	14153294	14153294	7982	19	G	T	T	T	574	45	IL27RA	2	2
CYP4F3	4051	broad.mit.edu	37	19	15759996	15759996	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15759996G>T	uc002nbj.2	+	c.552G>T	c.(550-552)GAG>GAT	p.E184D	CYP4F3_uc010xok.1_Missense_Mutation_p.E184D|CYP4F3_uc010xol.1_Missense_Mutation_p.E184D|CYP4F3_uc010xom.1_Missense_Mutation_p.E35D|CYP4F3_uc002nbk.2_Missense_Mutation_p.E184D|CYP4F3_uc010xon.1_5'Flank	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	184				EGS -> KGY (in Ref. 3; AAC08589).	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														0.236842	45.209789	50.021239	18	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15759996	15759996	4355	19	G	T	T	T	451	35	CYP4F3	2	2
USHBP1	83878	broad.mit.edu	37	19	17373540	17373540	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17373540C>T	uc002nfs.1	-	c.463G>A	c.(463-465)GGG>AGG	p.G155R	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.G91R|USHBP1_uc010eam.1_Missense_Mutation_p.G83R	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	155							PDZ domain binding			ovary(1)	1														0.331361	171.439197	175.699634	56	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17373540	17373540	17599	19	C	T	T	T	312	24	USHBP1	2	2
GTPBP3	84705	broad.mit.edu	37	19	17448878	17448878	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17448878C>G	uc002ngg.3	+	c.115C>G	c.(115-117)CTA>GTA	p.L39V	GTPBP3_uc010xpo.1_Missense_Mutation_p.L61V|GTPBP3_uc010eaq.1_Non-coding_Transcript|GTPBP3_uc010ear.1_Non-coding_Transcript|GTPBP3_uc002ngh.3_Missense_Mutation_p.L39V|GTPBP3_uc010eas.2_Missense_Mutation_p.L39V|GTPBP3_uc002ngi.3_5'UTR	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform	39					tRNA modification	mitochondrion	GTP binding|GTPase activity				0														0.152542	18.834096	25.651783	9	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17448878	17448878	7161	19	C	G	G	G	363	28	GTPBP3	3	3
NCAN	1463	broad.mit.edu	37	19	19337514	19337514	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19337514C>A	uc002nlz.2	+	c.1292C>A	c.(1291-1293)CCT>CAT	p.P431H	NCAN_uc010ecc.1_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	431					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)											0.189655	23.991577	29.215627	11	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19337514	19337514	10603	19	C	A	A	A	312	24	NCAN	2	2
CD22	933	broad.mit.edu	37	19	35836516	35836516	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35836516C>A	uc010edt.2	+	c.2220C>A	c.(2218-2220)GCC>GCA	p.A740A	CD22_uc010xst.1_Silent_p.A568A|CD22_uc010edu.2_Silent_p.A652A|CD22_uc010edv.2_Intron|CD22_uc002nzb.3_Silent_p.A563A|CD22_uc010edx.2_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	740	Cytoplasmic (Potential).				cell adhesion		protein binding|sugar binding			ovary(4)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	Ovarian(42;1009 1133 23674 26041)								0.375	108.734196	110.145789	39	65	KEEP	---	---	---	---	capture		Silent	SNP	35836516	35836516	3112	19	C	A	A	A	275	22	CD22	2	2
ATP4A	495	broad.mit.edu	37	19	36044671	36044671	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36044671G>T	uc002oal.1	-	c.2542C>A	c.(2542-2544)CGC>AGC	p.R848S	ATP4A_uc010eee.1_Missense_Mutation_p.R6S	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	848	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)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)									0.269231	21.813538	23.062804	7	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36044671	36044671	1164	19	G	T	T	T	520	40	ATP4A	1	1
ARHGAP33	115703	broad.mit.edu	37	19	36276183	36276183	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36276183G>A	uc002obs.1	+	c.1814G>A	c.(1813-1815)CGA>CAA	p.R605Q	ARHGAP33_uc002obr.1_Missense_Mutation_p.R605Q|ARHGAP33_uc002obt.1_Missense_Mutation_p.R469Q|ARHGAP33_uc010eel.2_Missense_Mutation_p.R193Q|ARHGAP33_uc002obv.1_Missense_Mutation_p.R193Q	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	605					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3														0.315217	78.895625	81.66203	29	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36276183	36276183	894	19	G	A	A	A	481	37	ARHGAP33	1	1
KCNK6	9424	broad.mit.edu	37	19	38817394	38817394	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38817394G>T	uc002oic.2	+	c.484G>T	c.(484-486)GGC>TGC	p.G162C	KCNK6_uc002oid.2_Missense_Mutation_p.G28C	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	162	Cytoplasmic (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)	1	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)									0.17284	27.300928	35.489286	14	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38817394	38817394	8375	19	G	T	T	T	559	43	KCNK6	2	2
ITGB1BP3	27231	broad.mit.edu	37	19	3939950	3939950	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:3939950G>T	uc010xia.1	+	c.391G>T	c.(391-393)GAG>TAG	p.E131*	ITGB1BP3_uc002lyz.3_Nonsense_Mutation_p.E126*	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	integrin beta 1 binding protein 3	126					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)										0.214286	18.647005	21.818636	9	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3939950	3939950	8197	19	G	T	T	T	429	33	ITGB1BP3	5	2
DLL3	10683	broad.mit.edu	37	19	39989617	39989617	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39989617G>T	uc002olx.2	+	c.3G>T	c.(1-3)ATG>ATT	p.M1I	DLL3_uc010egq.2_Missense_Mutation_p.M1I|DLL3_uc002olw.2_Missense_Mutation_p.M1I	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	1					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)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)											0.298578	172.232456	179.889973	63	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39989617	39989617	4747	19	G	T	T	T	611	47	DLL3	2	2
FCGBP	8857	broad.mit.edu	37	19	40433455	40433455	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40433455G>T	uc002omp.3	-	c.814C>A	c.(814-816)CAG>AAG	p.Q272K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	272	IgGFc-binding.					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)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)											0.246914	49.764036	54.484617	20	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40433455	40433455	6015	19	G	T	T	T	611	47	FCGBP	2	2
ATP1A3	478	broad.mit.edu	37	19	42471882	42471882	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42471882C>A	uc010xwh.1	-	c.2892G>T	c.(2890-2892)GAG>GAT	p.E964D	ATP1A3_uc010xwf.1_Missense_Mutation_p.E962D|ATP1A3_uc010xwg.1_Missense_Mutation_p.E921D|ATP1A3_uc002osg.2_Missense_Mutation_p.E951D|ATP1A3_uc002osh.2_Missense_Mutation_p.E951D	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	951	Helical; (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														0.340909	39.907578	40.893707	15	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42471882	42471882	1149	19	C	A	A	A	415	32	ATP1A3	2	2
CIC	23152	broad.mit.edu	37	19	42794026	42794026	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42794026A>G	uc002otf.1	+	c.1387A>G	c.(1387-1389)ATT>GTT	p.I463V		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)	8		Prostate(69;0.00682)								241				0.277778	12.467116	13.267051	5	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42794026	42794026	3558	19	A	G	G	G	104	8	CIC	4	4
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43430713G>A	uc002ovl.3	-	c.865C>T	c.(865-867)CGC>TGC	p.R289C	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Non-coding_Transcript|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.R167C	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	289	Ig-like C2-type 2.				female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.159196	197.140803	268.70992	103	544	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43430713	43430713	13113	19	G	A	A	A	520	40	PSG7	1	1
ZNF285	26974	broad.mit.edu	37	19	44891467	44891467	+	Nonsense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44891467T>A	uc010xxa.1	-	c.961A>T	c.(961-963)AAA>TAA	p.K321*	ZFP112_uc010xwz.1_Intron|ZNF285_uc002ozd.3_Nonsense_Mutation_p.K314*	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.117371	28.746757	59.394912	25	188	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	44891467	44891467	18414	19	T	A	A	A	819	63	ZNF285	5	3
SULT2A1	6822	broad.mit.edu	37	19	48377943	48377943	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48377943A>T	uc002phr.2	-	c.716T>A	c.(715-717)GTA>GAA	p.V239E		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	bile-salt sulfotransferase 2A1	239					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)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)										0.297143	148.936173	155.372459	52	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48377943	48377943	15901	19	A	T	T	T	182	14	SULT2A1	3	3
GRIN2D	2906	broad.mit.edu	37	19	48945446	48945446	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48945446T>A	uc002pjc.3	+	c.2480T>A	c.(2479-2481)ATC>AAC	p.I827N	GRIN2D_uc010elx.2_Missense_Mutation_p.I62N	NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	827	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)									0.301676	142.204713	148.478942	54	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48945446	48945446	7061	19	T	A	A	A	650	50	GRIN2D	3	3
TRPM4	54795	broad.mit.edu	37	19	49704042	49704042	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49704042G>T	uc002pmw.2	+	c.2953G>T	c.(2953-2955)GTG>TTG	p.V985L	TRPM4_uc010emu.2_Missense_Mutation_p.V840L|TRPM4_uc010yak.1_Missense_Mutation_p.V449L|TRPM4_uc002pmx.2_Missense_Mutation_p.V811L|TRPM4_uc010emv.2_Missense_Mutation_p.V870L|TRPM4_uc010yal.1_Missense_Mutation_p.V631L|TRPM4_uc002pmy.2_Missense_Mutation_p.V327L	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	985	Selectivity filter.			EDMDVA->TIIDGP: Induces a functional channel that combines the gating hallmarks of TRPM4 (activation by Ca(2+)) with TRPV6-like sensitivity to block by extracellular Ca(2+) and Mg(2+) as well as Ca(2+) permeation.	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)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)										0.192308	31.785498	38.678875	15	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49704042	49704042	17139	19	G	T	T	T	507	39	TRPM4	1	1
PRR12	57479	broad.mit.edu	37	19	50099833	50099833	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50099833C>T	uc002poo.3	+	c.2241C>T	c.(2239-2241)GTC>GTT	p.V747V		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	465	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)										0.5	15.474648	15.474648	5	5	KEEP	---	---	---	---	capture		Silent	SNP	50099833	50099833	13027	19	C	T	T	T	379	30	PRR12	2	2
MYH14	79784	broad.mit.edu	37	19	50779265	50779265	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50779265G>C	uc010enu.1	+	c.3485G>C	c.(3484-3486)GGG>GCG	p.G1162A	MYH14_uc002prq.1_Missense_Mutation_p.G1129A|MYH14_uc002prr.1_Missense_Mutation_p.G1121A	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 3	1121	Potential.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)										0.131579	8.057614	13.062596	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50779265	50779265	10428	19	G	C	C	C	559	43	MYH14	3	3
SIGLEC9	27180	broad.mit.edu	37	19	51630332	51630332	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51630332G>T	uc010yct.1	+	c.794G>T	c.(793-795)GGC>GTC	p.G265V	SIGLEC9_uc002pvu.2_Missense_Mutation_p.G265V	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	265	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding				0		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)										0.282407	152.810285	161.986645	61	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51630332	51630332	14810	19	G	T	T	T	546	42	SIGLEC9	2	2
IGLON5	402665	broad.mit.edu	37	19	51828677	51828677	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51828677G>T	uc002pwc.2	+	c.469G>T	c.(469-471)GTG>TTG	p.V157L		NM_001101372	NP_001094842	A6NGN9	IGLO5_HUMAN	IgLON family member 5 precursor	157	Ig-like C2-type 2.					extracellular region					0														0.117647	9.413113	16.741441	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51828677	51828677	7896	19	G	T	T	T	520	40	IGLON5	1	1
SIGLEC10	89790	broad.mit.edu	37	19	51914385	51914385	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51914385G>A	uc002pwo.2	-	c.2062C>T	c.(2062-2064)CAG>TAG	p.Q688*	SIGLEC10_uc002pwp.2_Nonsense_Mutation_p.Q630*|SIGLEC10_uc002pwq.2_Nonsense_Mutation_p.Q535*|SIGLEC10_uc002pwr.2_Nonsense_Mutation_p.Q593*|SIGLEC10_uc010ycy.1_Nonsense_Mutation_p.Q503*|SIGLEC10_uc010ycz.1_Nonsense_Mutation_p.Q545*|SIGLEC10_uc010eow.2_Nonsense_Mutation_p.Q405*	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	688	Cytoplasmic (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)										0.329193	152.0129	156.18109	53	108	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	51914385	51914385	14801	19	G	A	A	A	611	47	SIGLEC10	5	2
SIGLEC8	27181	broad.mit.edu	37	19	51961521	51961521	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51961521G>T	uc002pwt.2	-	c.121C>A	c.(121-123)CTG>ATG	p.L41M	SIGLEC8_uc010yda.1_Missense_Mutation_p.L41M|SIGLEC8_uc002pwu.2_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.L41M	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	41	Ig-like V-type.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)										0.273632	139.638061	148.921265	55	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51961521	51961521	14809	19	G	T	T	T	451	35	SIGLEC8	2	2
CEACAM18	729767	broad.mit.edu	37	19	51986279	51986279	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51986279G>C	uc002pwv.1	+	c.865G>C	c.(865-867)GAC>CAC	p.D289H		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion	289	Ig-like C2-type.					integral to membrane				skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)										0.304075	310.532499	321.474211	97	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51986279	51986279	3322	19	G	C	C	C	481	37	CEACAM18	3	3
PPP2R1A	5518	broad.mit.edu	37	19	52719903	52719903	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52719903A>T	uc002pyp.2	+	c.1115A>T	c.(1114-1116)CAG>CTG	p.Q372L	PPP2R1A_uc010ydk.1_Missense_Mutation_p.Q317L|PPP2R1A_uc010epm.1_Missense_Mutation_p.Q412L|PPP2R1A_uc002pyq.2_Missense_Mutation_p.Q193L	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	372	PP2A subunit B binding.|HEAT 10.				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				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)										0.274074	105.616427	111.823589	37	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52719903	52719903	12818	19	A	T	T	T	91	7	PPP2R1A	3	3
LILRB1	10859	broad.mit.edu	37	19	55146212	55146212	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55146212C>A	uc002qgm.2	+	c.1484C>A	c.(1483-1485)TCG>TAG	p.S495*	LILRB1_uc010erp.1_Nonsense_Mutation_p.S109*|LILRB1_uc002qgj.2_Nonsense_Mutation_p.S494*|LILRB1_uc002qgl.2_Nonsense_Mutation_p.S494*|LILRB1_uc002qgk.2_Nonsense_Mutation_p.S495*|LILRB1_uc010erq.2_Nonsense_Mutation_p.S478*|LILRB1_uc010err.2_Non-coding_Transcript	NM_001081637	NP_001075106	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	494	Cytoplasmic (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0188)										0.266355	143.188749	153.737405	57	157	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55146212	55146212	9116	19	C	A	A	A	403	31	LILRB1	5	1
NLRP2	55655	broad.mit.edu	37	19	55497607	55497607	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55497607G>T	uc002qij.2	+	c.2290G>T	c.(2290-2292)GGC>TGC	p.G764C	NLRP2_uc010yfp.1_Missense_Mutation_p.G741C|NLRP2_uc010esn.2_Missense_Mutation_p.G740C|NLRP2_uc010eso.2_Missense_Mutation_p.G761C|NLRP2_uc010esp.2_Missense_Mutation_p.G742C	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	764					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)										0.327869	110.448206	113.658912	40	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55497607	55497607	10880	19	G	T	T	T	455	35	NLRP2	2	2
NLRP4	147945	broad.mit.edu	37	19	56369376	56369376	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56369376C>A	uc002qmd.3	+	c.617C>A	c.(616-618)TCC>TAC	p.S206Y	NLRP4_uc002qmf.2_Missense_Mutation_p.S131Y|NLRP4_uc010etf.2_Missense_Mutation_p.S37Y	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	206	NACHT.						ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.282051	135.634372	143.963795	55	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56369376	56369376	10882	19	C	A	A	A	390	30	NLRP4	2	2
NLRP4	147945	broad.mit.edu	37	19	56370026	56370026	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56370026G>T	uc002qmd.3	+	c.1267G>T	c.(1267-1269)GGG>TGG	p.G423W	NLRP4_uc002qmf.2_Missense_Mutation_p.G348W|NLRP4_uc010etf.2_Missense_Mutation_p.G254W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	423	NACHT.						ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.3	139.841777	145.928188	51	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56370026	56370026	10882	19	G	T	T	T	611	47	NLRP4	2	2
ZSCAN18	65982	broad.mit.edu	37	19	58600081	58600081	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58600081C>A	uc010yht.1	-	c.695G>T	c.(694-696)GGG>GTG	p.G232V	ZSCAN18_uc002qrj.3_Missense_Mutation_p.G176V|ZSCAN18_uc010yhs.1_Missense_Mutation_p.G41V|ZSCAN18_uc002qri.2_Missense_Mutation_p.G176V|ZSCAN18_uc002qrh.2_Missense_Mutation_p.G176V|ZSCAN18_uc002qrk.1_Missense_Mutation_p.G176V|ZSCAN18_uc002qrl.2_Missense_Mutation_p.G176V	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	176					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)										0.32967	79.806447	82.153258	30	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58600081	58600081	18834	19	C	A	A	A	286	22	ZSCAN18	2	2
MUC16	94025	broad.mit.edu	37	19	9047921	9047921	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9047921G>T	uc002mkp.2	-	c.33710C>A	c.(33709-33711)TCA>TAA	p.S11237*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11239	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														0.342105	36.160233	36.998831	13	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	9047921	9047921	10367	19	G	T	T	T	585	45	MUC16	5	2
AGL	178	broad.mit.edu	37	1	100336081	100336081	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100336081G>T	uc001dsi.1	+	c.790G>T	c.(790-792)GGG>TGG	p.G264W	AGL_uc001dsj.1_Missense_Mutation_p.G264W|AGL_uc001dsk.1_Missense_Mutation_p.G264W|AGL_uc001dsl.1_Missense_Mutation_p.G264W|AGL_uc001dsm.1_Missense_Mutation_p.G248W|AGL_uc001dsn.1_Missense_Mutation_p.G247W	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	264	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)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)										0.20339	55.011863	64.592734	24	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100336081	100336081	387	1	G	T	T	T	455	35	AGL	2	2
PRPF38B	55119	broad.mit.edu	37	1	109241225	109241225	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109241225G>T	uc001dvv.3	+	c.559_splice	c.e5-1	p.D187_splice	PRPF38B_uc001dvw.3_Splice_Site_SNP_p.D76_splice|PRPF38B_uc010ouz.1_Splice_Site_SNP	NM_018061	NP_060531			PRP38 pre-mRNA processing factor 38 (yeast)						mRNA processing|RNA splicing	spliceosomal complex					0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)										0.20339	53.931641	63.571462	24	94	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	109241225	109241225	13011	1	G	T	T	T	455	35	PRPF38B	5	2
AMPD2	271	broad.mit.edu	37	1	110168960	110168960	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110168960G>T	uc009wfh.1	+	c.604G>T	c.(604-606)GAG>TAG	p.E202*	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Nonsense_Mutation_p.E121*|AMPD2_uc001dyc.1_Nonsense_Mutation_p.E202*|AMPD2_uc010ovr.1_Nonsense_Mutation_p.E127*|AMPD2_uc010ovs.1_Nonsense_Mutation_p.E84*|AMPD2_uc001dyd.1_Nonsense_Mutation_p.E83*|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	202					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)										0.147059	16.414556	24.544828	10	58	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	110168960	110168960	589	1	G	T	T	T	585	45	AMPD2	5	2
FAM19A3	284467	broad.mit.edu	37	1	113266601	113266601	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:113266601C>T	uc001ecu.2	+	c.300C>T	c.(298-300)GAC>GAT	p.D100D	FAM19A3_uc001ecv.2_Intron|FAM19A3_uc010owk.1_Non-coding_Transcript|FAM19A3_uc010owl.1_Non-coding_Transcript	NM_001004440	NP_001004440	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine	Error:Variant_position_missing_in_Q7Z5A8_after_alignment						extracellular region					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)		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)										0.078431	-3.213312	24.581306	12	141	KEEP	---	---	---	---	capture		Silent	SNP	113266601	113266601	5747	1	C	T	T	T	233	18	FAM19A3	2	2
SYT6	148281	broad.mit.edu	37	1	114640465	114640465	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:114640465C>A	uc001eev.2	-	c.1144G>T	c.(1144-1146)GTG>TTG	p.V382L	SYT6_uc001eeu.2_Missense_Mutation_p.V27L	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	467	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		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)										0.11165	30.47575	61.172778	23	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114640465	114640465	15999	1	C	A	A	A	221	17	SYT6	2	2
PTCHD2	57540	broad.mit.edu	37	1	11574545	11574545	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11574545G>A	uc001ash.3	+	c.1415G>A	c.(1414-1416)TGC>TAC	p.C472Y	PTCHD2_uc001asi.1_Missense_Mutation_p.C472Y	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	472	SSD.|Helical; (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)		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)										0.085202	0.542688	39.474053	19	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11574545	11574545	13187	1	G	A	A	A	598	46	PTCHD2	2	2
PTCHD2	57540	broad.mit.edu	37	1	11594437	11594437	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11594437G>T	uc001ash.3	+	c.3376_splice	c.e18-1	p.T1126_splice		NM_020780	NP_065831			patched domain containing 2						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)		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)										0.230088	58.69192	66.239465	26	87	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	11594437	11594437	13187	1	G	T	T	T	429	33	PTCHD2	5	2
PTGFRN	5738	broad.mit.edu	37	1	117509740	117509740	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117509740T>C	uc001egv.1	+	c.1847T>C	c.(1846-1848)CTG>CCG	p.L616P		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	616	Ig-like C2-type 5.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)										0.127168	31.627805	55.086221	22	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117509740	117509740	13205	1	T	C	C	C	715	55	PTGFRN	4	4
WARS2	10352	broad.mit.edu	37	1	119619185	119619185	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119619185T>C	uc001ehn.2	-	c.136A>G	c.(136-138)ATC>GTC	p.I46V	WARS2_uc010oxf.1_5'UTR|WARS2_uc001ehm.2_Missense_Mutation_p.I46V|WARS2_uc010oxg.1_Missense_Mutation_p.I46V|WARS2_uc010oxh.1_Missense_Mutation_p.I46V|WARS2_uc010oxi.1_5'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	mitochondrial tryptophanyl tRNA synthetase 2	46					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity				0	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)									0.171123	167.477525	205.70874	64	310	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119619185	119619185	17822	1	T	C	C	C	676	52	WARS2	4	4
TNFRSF8	943	broad.mit.edu	37	1	12157231	12157231	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12157231G>T	uc001atq.2	+	c.225G>T	c.(223-225)CTG>CTT	p.L75L	TNFRSF8_uc010obc.1_5'UTR	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	75	Extracellular (Potential).|TNFR-Cys 2.				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)		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)						756				0.192593	57.770234	69.684231	26	109	KEEP	---	---	---	---	capture		Silent	SNP	12157231	12157231	16840	1	G	T	T	T	600	47	TNFRSF8	2	2
PIP5K1A	8394	broad.mit.edu	37	1	151204252	151204252	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151204252G>T	uc001exj.2	+	c.343G>T	c.(343-345)GTG>TTG	p.V115L	PIP5K1A_uc001exi.2_Missense_Mutation_p.V102L|PIP5K1A_uc010pcu.1_Missense_Mutation_p.V103L|PIP5K1A_uc001exk.2_Missense_Mutation_p.V102L|PIP5K1A_uc010pcv.1_5'Flank	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	115	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			Pancreas(80;36 1443 2325 16095 21302)				275				0.267241	180.364292	191.703102	62	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151204252	151204252	12363	1	G	T	T	T	520	40	PIP5K1A	1	1
PI4KB	5298	broad.mit.edu	37	1	151288658	151288658	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151288658C>A	uc001exr.2	-	c.336G>T	c.(334-336)GAG>GAT	p.E112D	PI4KB_uc001exs.2_Missense_Mutation_p.E100D|PI4KB_uc001ext.2_Missense_Mutation_p.E100D|PI4KB_uc001exu.2_Missense_Mutation_p.E100D|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.E112D	NM_002651	NP_002642	Q9UBF8	PI4KB_HUMAN	catalytic phosphatidylinositol 4-kinase beta	100					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)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			Colon(154;765 1838 9854 28443 37492)				342				0.208145	105.323305	122.761652	46	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151288658	151288658	12298	1	C	A	A	A	311	24	PI4KB	2	2
FLG	2312	broad.mit.edu	37	1	152285480	152285480	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152285480G>C	uc001ezu.1	-	c.1882C>G	c.(1882-1884)CAG>GAG	p.Q628E		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	628	Filaggrin 3.|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)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.307285	766.056346	791.092185	232	523	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152285480	152285480	6160	1	G	C	C	C	585	45	FLG	3	3
LCE3D	84648	broad.mit.edu	37	1	152552354	152552354	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152552354T>A	uc001fab.2	-	c.59A>T	c.(58-60)AAG>ATG	p.K20M		NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	20					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)										0.246575	175.957874	193.03647	72	220	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152552354	152552354	8995	1	T	A	A	A	728	56	LCE3D	3	3
LCE3D	84648	broad.mit.edu	37	1	152552359	152552359	+	Silent	SNP	T	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152552359T>G	uc001fab.2	-	c.54A>C	c.(52-54)TCA>TCC	p.S18S		NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	18					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)										0.251724	218.848748	235.082843	73	217	KEEP	---	---	---	---	capture		Silent	SNP	152552359	152552359	8995	1	T	G	G	G	756	59	LCE3D	4	4
LCE3D	84648	broad.mit.edu	37	1	152552407	152552407	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152552407G>T	uc001fab.2	-	c.6C>A	c.(4-6)TCC>TCA	p.S2S		NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	2					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)										0.237069	133.408676	148.072452	55	177	KEEP	---	---	---	---	capture		Silent	SNP	152552407	152552407	8995	1	G	T	T	T	444	35	LCE3D	2	2
LCE4A	199834	broad.mit.edu	37	1	152681629	152681629	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152681629C>T	uc001fak.2	+	c.78C>T	c.(76-78)CCC>CCT	p.P26P		NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	26	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)											0.203297	190.735653	220.491455	74	290	KEEP	---	---	---	---	capture		Silent	SNP	152681629	152681629	8997	1	C	T	T	T	301	24	LCE4A	2	2
SPRR1B	6699	broad.mit.edu	37	1	153005016	153005016	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153005016C>A	uc001fba.2	+	c.195C>A	c.(193-195)TGC>TGA	p.C65*	SPRR1B_uc009wnx.1_Intron	NM_003125	NP_003116	P22528	SPR1B_HUMAN	small proline-rich protein 1B	65	5.|6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.196375	132.604377	161.039287	65	266	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	153005016	153005016	15610	1	C	A	A	A	337	26	SPRR1B	5	2
SPRR2E	6704	broad.mit.edu	37	1	153066043	153066043	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153066043G>T	uc001fbh.2	-	c.185C>A	c.(184-186)CCC>CAC	p.P62H	SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	NM_001024209	NP_001019380	P22531	SPR2E_HUMAN	small proline-rich protein 2E	62					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.205042	260.569848	308.49708	122	473	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153066043	153066043	15614	1	G	T	T	T	559	43	SPRR2E	2	2
LELP1	149018	broad.mit.edu	37	1	153177368	153177368	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153177368C>A	uc001fbl.2	+	c.185C>A	c.(184-186)CCC>CAC	p.P62H		NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	62	Cys/Pro-rich.									ovary(1)	1	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.127907	28.626135	51.853649	22	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153177368	153177368	9042	1	C	A	A	A	286	22	LELP1	2	2
DENND4B	9909	broad.mit.edu	37	1	153905198	153905198	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153905198C>G	uc001fdd.1	-	c.3679G>C	c.(3679-3681)GGT>CGT	p.G1227R		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1227										ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)											0.079137	-1.285138	23.860442	11	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153905198	153905198	4613	1	C	G	G	G	273	21	DENND4B	3	3
FCRL4	83417	broad.mit.edu	37	1	157556176	157556176	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157556176A>T	uc001fqw.2	-	c.917T>A	c.(916-918)CTG>CAG	p.L306Q	FCRL4_uc010phy.1_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	306	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)	3	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)								315				0.278761	176.427885	186.377547	63	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157556176	157556176	6034	1	A	T	T	T	91	7	FCRL4	3	3
CD5L	922	broad.mit.edu	37	1	157803126	157803126	+	Nonsense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157803126T>A	uc001frk.3	-	c.895A>T	c.(895-897)AAA>TAA	p.K299*		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	299	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)											0.265306	190.495454	205.150931	78	216	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	157803126	157803126	3155	1	T	A	A	A	806	62	CD5L	5	3
OR6K2	81448	broad.mit.edu	37	1	158670253	158670253	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158670253T>A	uc001fsu.1	-	c.190A>T	c.(190-192)AGT>TGT	p.S64C		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.275	124.137328	131.427666	44	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158670253	158670253	11612	1	T	A	A	A	715	55	OR6K2	3	3
OR6K3	391114	broad.mit.edu	37	1	158687393	158687393	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158687393G>T	uc010pip.1	-	c.561C>A	c.(559-561)CCC>CCA	p.P187P		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	187	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)													0.279835	186.198517	196.787768	68	175	KEEP	---	---	---	---	capture		Silent	SNP	158687393	158687393	11613	1	G	T	T	T	600	47	OR6K3	2	2
MNDA	4332	broad.mit.edu	37	1	158815548	158815548	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158815548C>A	uc001fsz.1	+	c.742C>A	c.(742-744)CAT>AAT	p.H248N		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	248	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)	2	all_hematologic(112;0.0378)													0.212598	63.954637	73.649973	27	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158815548	158815548	10067	1	C	A	A	A	273	21	MNDA	2	2
CD244	51744	broad.mit.edu	37	1	160808305	160808305	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160808305G>T	uc009wtq.2	-	c.785C>A	c.(784-786)ACC>AAC	p.T262N	CD244_uc001fxa.2_Missense_Mutation_p.T257N|CD244_uc009wtp.2_Non-coding_Transcript|CD244_uc009wtr.2_Missense_Mutation_p.T165N	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	CD244 natural killer cell receptor 2B4	262	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)		BRCA - Breast invasive adenocarcinoma(70;0.00737)											0.163793	83.806702	108.709956	38	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160808305	160808305	3115	1	G	T	T	T	572	44	CD244	2	2
CD244	51744	broad.mit.edu	37	1	160811267	160811267	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160811267C>A	uc009wtq.2	-	c.403G>T	c.(403-405)GAG>TAG	p.E135*	CD244_uc001fxa.2_Nonsense_Mutation_p.E130*|CD244_uc009wtp.2_Non-coding_Transcript|CD244_uc009wtr.2_Intron|CD244_uc010pjt.1_Intron	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	CD244 natural killer cell receptor 2B4	135	Extracellular (Potential).|Ig-like 2.				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)		BRCA - Breast invasive adenocarcinoma(70;0.00737)											0.263804	104.51027	112.771229	43	120	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	160811267	160811267	3115	1	C	A	A	A	377	29	CD244	5	2
FBLIM1	54751	broad.mit.edu	37	1	16096939	16096939	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:16096939C>T	uc001axg.1	+	c.577C>T	c.(577-579)CGA>TGA	p.R193*	FBLIM1_uc001axd.1_Nonsense_Mutation_p.R193*|FBLIM1_uc001axe.1_Nonsense_Mutation_p.R193*|FBLIM1_uc001axf.2_Non-coding_Transcript|FBLIM1_uc001axh.1_Nonsense_Mutation_p.R96*|FBLIM1_uc001axi.1_Nonsense_Mutation_p.R96*	NM_001024215	NP_001019386	Q8WUP2	FBLI1_HUMAN	filamin-binding LIM protein-1 isoform b	193	LIM zinc-binding 1.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)										0.076389	-0.786822	25.680723	11	133	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	16096939	16096939	5933	1	C	T	T	T	295	23	FBLIM1	5	1
FCRLA	84824	broad.mit.edu	37	1	161680653	161680653	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161680653G>A	uc001gbe.2	+	c.252G>A	c.(250-252)CAG>CAA	p.Q84Q	FCRLA_uc001gbd.2_Silent_p.Q78Q|FCRLA_uc001gbf.2_Silent_p.Q78Q|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Silent_p.Q78Q|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	61					cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)											0.248677	128.648693	139.49615	47	142	KEEP	---	---	---	---	capture		Silent	SNP	161680653	161680653	6037	1	G	A	A	A	451	35	FCRLA	2	2
FCRLA	84824	broad.mit.edu	37	1	161680697	161680698	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161680697_161680698CC>AA	uc001gbe.2	+	c.296_297CC>AA	c.(295-297)TCC>TAA	p.S99*	FCRLA_uc001gbd.2_Nonsense_Mutation_p.S93*|FCRLA_uc001gbf.2_Nonsense_Mutation_p.S93*|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Nonsense_Mutation_p.S93*|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	76	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)											0.173077	67.265618	88.276946	36	172	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	161680697	161680698	6037	1	CC	AA	AA	AA	390	30	FCRLA	5	2
NOS1AP	9722	broad.mit.edu	37	1	162336927	162336927	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:162336927G>T	uc001gbv.2	+	c.1191G>T	c.(1189-1191)GAG>GAT	p.E397D	NOS1AP_uc010pks.1_Non-coding_Transcript|NOS1AP_uc001gbw.2_Missense_Mutation_p.E392D|NOS1AP_uc009wut.1_Missense_Mutation_p.E102D	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	397					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)		BRCA - Breast invasive adenocarcinoma(70;0.0537)											0.189944	136.884755	169.082315	68	290	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	162336927	162336927	10945	1	G	T	T	T	451	35	NOS1AP	2	2
NUF2	83540	broad.mit.edu	37	1	163298635	163298635	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:163298635G>T	uc001gcq.1	+	c.276_splice	c.e5-1	p.L92_splice	NUF2_uc001gcp.2_Splice_Site_SNP_p.L92_splice|NUF2_uc001gcr.1_Splice_Site_SNP_p.L92_splice|NUF2_uc009wvc.1_Splice_Site_SNP_p.L92_splice	NM_145697	NP_663735			NUF2, NDC80 kinetochore complex component						cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			ovary(3)	3	all_hematologic(923;0.101)													0.111111	18.855969	41.738711	17	136	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	163298635	163298635	11152	1	G	T	T	T	455	35	NUF2	5	2
ATP13A2	23400	broad.mit.edu	37	1	17313590	17313590	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17313590C>A	uc001baa.2	-	c.3034G>T	c.(3034-3036)GTG>TTG	p.V1012L	ATP13A2_uc001azz.1_Missense_Mutation_p.V159L|ATP13A2_uc001bab.2_Missense_Mutation_p.V1007L|ATP13A2_uc001bac.2_Missense_Mutation_p.V968L	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	1012	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(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)		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)										0.344444	85.891826	87.817892	31	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17313590	17313590	1143	1	C	A	A	A	234	18	ATP13A2	2	2
KLHL20	27252	broad.mit.edu	37	1	173735426	173735426	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173735426G>T	uc001gjc.2	+	c.1293G>T	c.(1291-1293)GAG>GAT	p.E431D	KLHL20_uc010pmr.1_Missense_Mutation_p.E242D|KLHL20_uc009wwf.2_Missense_Mutation_p.E413D	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	431	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)								0.29563	292.858618	307.401998	115	274	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173735426	173735426	8687	1	G	T	T	T	425	33	KLHL20	2	2
PAPPA2	60676	broad.mit.edu	37	1	176525673	176525673	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176525673C>G	uc001gkz.2	+	c.215C>G	c.(214-216)CCC>CGC	p.P72R	PAPPA2_uc001gky.1_Missense_Mutation_p.P72R|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	72					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														0.20198	235.993761	277.655742	102	403	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176525673	176525673	11850	1	C	G	G	G	286	22	PAPPA2	3	3
RCC2	55920	broad.mit.edu	37	1	17765004	17765004	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17765004T>A	uc001bal.2	-	c.7A>T	c.(7-9)AGG>TGG	p.R3W	RCC2_uc001bam.2_Missense_Mutation_p.R3W	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	3					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)		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)										0.272727	8.224416	8.733853	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17765004	17765004	13643	1	T	A	A	A	713	55	RCC2	3	3
RALGPS2	55103	broad.mit.edu	37	1	178854254	178854255	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:178854254_178854255GG>CT	uc001glz.2	+	c.948_949GG>CT	c.(946-951)GTGGCA>GTCTCA	p.A317S	RALGPS2_uc010pnb.1_Missense_Mutation_p.A317S	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	317					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0														0.318966	113.619564	117.006524	37	79	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	178854254	178854255	13478	1	GG	CT	CT	CT	600	47	RALGPS2	3	3
CACNA1E	777	broad.mit.edu	37	1	181689959	181689959	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181689959A>C	uc001gow.2	+	c.1924A>C	c.(1924-1926)ACC>CCC	p.T642P	CACNA1E_uc009wxs.2_Missense_Mutation_p.T549P	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	642	Extracellular (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														0.347826	55.691018	56.628994	16	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181689959	181689959	2658	1	A	C	C	C	182	14	CACNA1E	4	4
CACNA1E	777	broad.mit.edu	37	1	181759585	181759585	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181759585G>T	uc001gow.2	+	c.5791G>T	c.(5791-5793)GGC>TGC	p.G1931C	CACNA1E_uc009wxs.2_Missense_Mutation_p.G1819C|CACNA1E_uc009wxt.2_Missense_Mutation_p.G1157C	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1931	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.19403	27.135523	32.989238	13	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181759585	181759585	2658	1	G	T	T	T	611	47	CACNA1E	2	2
LAMC1	3915	broad.mit.edu	37	1	183090909	183090909	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183090909G>T	uc001gpy.3	+	c.2042G>T	c.(2041-2043)GGA>GTA	p.G681V		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	681	Laminin IV type A.				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)									0.216667	56.898303	65.775401	26	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183090909	183090909	8937	1	G	T	T	T	533	41	LAMC1	2	2
APOBEC4	403314	broad.mit.edu	37	1	183617876	183617876	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183617876G>A	uc001gqn.2	-	c.41C>T	c.(40-42)ACA>ATA	p.T14I	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	apolipoprotein B	14					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0														0.18617	70.422216	87.770171	35	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183617876	183617876	807	1	G	A	A	A	624	48	APOBEC4	2	2
HMCN1	83872	broad.mit.edu	37	1	185892747	185892747	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:185892747A>G	uc001grq.1	+	c.1247A>G	c.(1246-1248)CAG>CGG	p.Q416R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	416					bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.261062	164.422202	176.099352	59	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185892747	185892747	7511	1	A	G	G	G	91	7	HMCN1	4	4
FAM5C	339479	broad.mit.edu	37	1	190067423	190067423	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190067423C>G	uc001gse.1	-	c.2026G>C	c.(2026-2028)GAC>CAC	p.D676H	FAM5C_uc010pot.1_Missense_Mutation_p.D574H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	676						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.211806	172.204006	194.350172	61	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190067423	190067423	5817	1	C	G	G	G	377	29	FAM5C	3	3
FAM5C	339479	broad.mit.edu	37	1	190250721	190250721	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190250721C>A	uc001gse.1	-	c.396G>T	c.(394-396)GGG>GGT	p.G132G	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	132						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.134454	44.241925	75.079985	32	206	KEEP	---	---	---	---	capture		Silent	SNP	190250721	190250721	5817	1	C	A	A	A	379	30	FAM5C	2	2
CFHR4	10877	broad.mit.edu	37	1	196871741	196871741	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196871741C>A	uc001gtp.2	+	c.252C>A	c.(250-252)TGC>TGA	p.C84*	CFHR4_uc001gto.2_Nonsense_Mutation_p.C84*|CFHR4_uc009wyy.2_Nonsense_Mutation_p.C83*	NM_006684	NM_006684	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	84	Sushi 1.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)	2														0.263359	174.952452	188.223635	69	193	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	196871741	196871741	3420	1	C	A	A	A	337	26	CFHR4	5	2
CFHR5	81494	broad.mit.edu	37	1	196967432	196967432	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196967432C>A	uc001gts.3	+	c.1145C>A	c.(1144-1146)ACA>AAA	p.T382K		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	382	Sushi 6.				complement activation, alternative pathway	extracellular region				breast(1)	1														0.176471	37.678017	47.751185	18	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196967432	196967432	3421	1	C	A	A	A	221	17	CFHR5	2	2
ASPM	259266	broad.mit.edu	37	1	197070066	197070066	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197070066T>C	uc001gtu.2	-	c.8315A>G	c.(8314-8316)CAA>CGA	p.Q2772R	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Q620R	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2772					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.12406	48.881342	85.647811	33	233	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197070066	197070066	1075	1	T	C	C	C	819	63	ASPM	4	4
LHX9	56956	broad.mit.edu	37	1	197890482	197890482	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197890482C>A	uc001guk.1	+	c.426C>A	c.(424-426)GCC>GCA	p.A142A	LHX9_uc001gui.1_Silent_p.A133A|LHX9_uc001guj.1_Silent_p.A148A	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	142	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														0.139241	32.739408	52.615442	22	136	KEEP	---	---	---	---	capture		Silent	SNP	197890482	197890482	9103	1	C	A	A	A	301	24	LHX9	2	2
PPP1R12B	4660	broad.mit.edu	37	1	202398051	202398051	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202398051G>T	uc001gxz.1	+	c.915G>T	c.(913-915)CAG>CAT	p.Q305H	PPP1R12B_uc001gxy.2_Missense_Mutation_p.Q305H|PPP1R12B_uc009xad.1_Missense_Mutation_p.Q111H|PPP1R12B_uc009xae.1_Missense_Mutation_p.Q305H|PPP1R12B_uc001gya.1_Missense_Mutation_p.Q305H	NM_032105	NP_115288	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	305					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)											0.208955	29.610779	34.86823	14	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202398051	202398051	12790	1	G	T	T	T	425	33	PPP1R12B	2	2
PRELP	5549	broad.mit.edu	37	1	203452395	203452395	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203452395C>A	uc001gzs.2	+	c.83C>A	c.(82-84)CCC>CAC	p.P28H	PRELP_uc001gzt.2_Missense_Mutation_p.P28H	NM_002725	NP_002716	P51888	PRELP_HUMAN	proline arginine-rich end leucine-rich repeat	28					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			ovary(1)|central_nervous_system(1)|pancreas(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.109)											0.320833	211.704309	218.540823	77	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203452395	203452395	12916	1	C	A	A	A	286	22	PRELP	2	2
CNTN2	6900	broad.mit.edu	37	1	205030382	205030382	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205030382C>A	uc001hbr.2	+	c.807C>A	c.(805-807)CCC>CCA	p.P269P	CNTN2_uc001hbq.1_Silent_p.P160P|CNTN2_uc009xbi.2_Silent_p.P160P|CNTN2_uc001hbs.2_Silent_p.P57P	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	269	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			Melanoma(183;2548 2817 37099 41192)						OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.144444	20.710471	31.666572	13	77	KEEP	---	---	---	---	capture		Silent	SNP	205030382	205030382	3779	1	C	A	A	A	275	22	CNTN2	2	2
CNTN2	6900	broad.mit.edu	37	1	205042265	205042265	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205042265C>A	uc001hbr.2	+	c.2914C>A	c.(2914-2916)CCA>ACA	p.P972T	CNTN2_uc001hbs.2_Missense_Mutation_p.P760T	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	972	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)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			Melanoma(183;2548 2817 37099 41192)								0.229167	79.304797	88.987968	33	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	205042265	205042265	3779	1	C	A	A	A	286	22	CNTN2	2	2
SRGAP2	23380	broad.mit.edu	37	1	206611329	206611329	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:206611329C>T	uc001hdy.2	+	c.1388C>T	c.(1387-1389)GCT>GTT	p.A463V	SRGAP2_uc010prt.1_Missense_Mutation_p.A386V|SRGAP2_uc001hdx.2_Missense_Mutation_p.A463V|SRGAP2_uc010pru.1_Missense_Mutation_p.A386V|SRGAP2_uc010prv.1_Missense_Mutation_p.A387V	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	550	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)													0.119691	39.828538	76.612414	31	228	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206611329	206611329	15660	1	C	T	T	T	364	28	SRGAP2	2	2
SRGAP2	23380	broad.mit.edu	37	1	206634713	206634713	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:206634713G>T	uc001hdy.2	+	c.2903G>T	c.(2902-2904)GGT>GTT	p.G968V	SRGAP2_uc010pru.1_Missense_Mutation_p.G891V	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1055					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)													0.245791	182.291851	199.730273	73	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206634713	206634713	15660	1	G	T	T	T	572	44	SRGAP2	2	2
HP1BP3	50809	broad.mit.edu	37	1	21074085	21074086	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21074085_21074086CC>AA	uc001bdw.1	-	c.1204_1205GG>TT	c.(1204-1206)GGG>TTG	p.G402L	HP1BP3_uc001bdv.1_Missense_Mutation_p.G364L|HP1BP3_uc010odh.1_Missense_Mutation_p.G364L|HP1BP3_uc001bdy.1_Missense_Mutation_p.G402L|HP1BP3_uc010odf.1_Missense_Mutation_p.G61L|HP1BP3_uc010odg.1_Missense_Mutation_p.G250L	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	402	H15 3.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)										0.083969	2.016921	25.05109	11	120	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	21074085	21074086	7620	1	CC	AA	AA	AA	286	22	HP1BP3	2	2
KCNH1	3756	broad.mit.edu	37	1	211256166	211256166	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:211256166C>A	uc001hib.2	-	c.514G>T	c.(514-516)GTG>TTG	p.V172L	KCNH1_uc001hic.2_Missense_Mutation_p.V172L	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	172	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)										0.353846	288.647288	293.532955	92	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211256166	211256166	8336	1	C	A	A	A	247	19	KCNH1	1	1
KCTD3	51133	broad.mit.edu	37	1	215759874	215759874	+	Silent	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215759874G>C	uc001hks.2	+	c.663G>C	c.(661-663)ACG>ACC	p.T221T	KCTD3_uc001hkt.2_Silent_p.T221T|KCTD3_uc010pub.1_Silent_p.T119T|KCTD3_uc009xdn.2_5'UTR	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	221						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(2)	2				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)										0.228464	168.939734	186.997844	61	206	KEEP	---	---	---	---	capture		Silent	SNP	215759874	215759874	8416	1	G	C	C	C	470	37	KCTD3	3	3
USH2A	7399	broad.mit.edu	37	1	216051129	216051129	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216051129C>T	uc001hku.1	-	c.8652G>A	c.(8650-8652)CAG>CAA	p.Q2884Q		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2884	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				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.32696	529.156467	543.040645	171	352	KEEP	---	---	---	---	capture		Silent	SNP	216051129	216051129	17598	1	C	T	T	T	259	20	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216143975	216143975	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216143975C>A	uc001hku.1	-	c.6949G>T	c.(6949-6951)GGC>TGC	p.G2317C		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2317	Fibronectin type-III 9.|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				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.147619	53.78105	78.828463	31	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216143975	216143975	17598	1	C	A	A	A	286	22	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216496873	216496873	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216496873G>T	uc001hku.1	-	c.1493C>A	c.(1492-1494)ACT>AAT	p.T498N	USH2A_uc001hkv.2_Missense_Mutation_p.T498N	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	498	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				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.267327	220.829616	235.648826	81	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216496873	216496873	17598	1	G	T	T	T	468	36	USH2A	2	2
MARK1	4139	broad.mit.edu	37	1	220752848	220752848	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220752848G>A	uc009xdw.2	+	c.204G>A	c.(202-204)AAG>AAA	p.K68K	MARK1_uc001hml.2_Silent_p.K68K|MARK1_uc001hmn.3_Silent_p.K68K|MARK1_uc010pun.1_Silent_p.K68K|MARK1_uc001hmm.3_Silent_p.K68K	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	68	ATP (By similarity).|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				GBM - Glioblastoma multiforme(131;0.0407)						258				0.120805	29.73713	50.744012	18	131	KEEP	---	---	---	---	capture		Silent	SNP	220752848	220752848	9695	1	G	A	A	A	451	35	MARK1	2	2
ENAH	55740	broad.mit.edu	37	1	225699552	225699552	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:225699552C>A	uc001hpc.1	-	c.1432G>T	c.(1432-1434)GAG>TAG	p.E478*	ENAH_uc001hpd.1_Nonsense_Mutation_p.E478*|ENAH_uc001hpb.1_Nonsense_Mutation_p.E97*	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	enabled homolog isoform a	478	EVH2.				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)			GBM - Glioblastoma multiforme(131;0.19)										0.243902	24.327664	26.77961	10	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	225699552	225699552	5304	1	C	A	A	A	416	32	ENAH	5	2
ZBTB40	9923	broad.mit.edu	37	1	22817990	22817990	+	Silent	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22817990A>G	uc001bft.2	+	c.795A>G	c.(793-795)CTA>CTG	p.L265L	ZBTB40_uc001bfu.2_Silent_p.L265L|ZBTB40_uc009vqi.1_Silent_p.L265L	NM_001083621	NP_001077090	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	265					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)		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)										0.248731	152.88672	164.191992	49	148	KEEP	---	---	---	---	capture		Silent	SNP	22817990	22817990	18128	1	A	G	G	G	184	15	ZBTB40	4	4
OBSCN	84033	broad.mit.edu	37	1	228464950	228464950	+	Silent	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228464950G>C	uc009xez.1	+	c.6690G>C	c.(6688-6690)GCG>GCC	p.A2230A	OBSCN_uc001hsn.2_Silent_p.A2230A|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2230	Ig-like 22.				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				0.25	25.271709	27.604473	10	30	KEEP	---	---	---	---	capture		Silent	SNP	228464950	228464950	11217	1	G	C	C	C	496	39	OBSCN	3	3
OBSCN	84033	broad.mit.edu	37	1	228523918	228523918	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228523918C>A	uc009xez.1	+	c.16484C>A	c.(16483-16485)TCA>TAA	p.S5495*	OBSCN_uc001hsn.2_Nonsense_Mutation_p.S5495*|OBSCN_uc001hsr.1_Nonsense_Mutation_p.S123*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5495					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				0.21327	99.547732	115.585921	45	166	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	228523918	228523918	11217	1	C	A	A	A	377	29	OBSCN	5	2
C1QB	713	broad.mit.edu	37	1	22986096	22986096	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22986096C>A	uc001bgd.2	+	c.147C>A	c.(145-147)CCC>CCA	p.P49P		NM_000491	NP_000482	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	49	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)		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)	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)									0.296296	46.088065	48.086712	16	38	KEEP	---	---	---	---	capture		Silent	SNP	22986096	22986096	2022	1	C	A	A	A	288	23	C1QB	1	1
LYST	1130	broad.mit.edu	37	1	235973688	235973688	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235973688T>C	uc001hxj.2	-	c.430A>G	c.(430-432)AGA>GGA	p.R144G	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.R144G	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	144					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)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											0.073171	-6.85907	46.921643	21	266	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235973688	235973688	9505	1	T	C	C	C	713	55	LYST	4	4
NID1	4811	broad.mit.edu	37	1	236195859	236195859	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236195859G>T	uc001hxo.2	-	c.1379C>A	c.(1378-1380)TCT>TAT	p.S460Y	NID1_uc009xgd.2_Missense_Mutation_p.S460Y	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	460	Nidogen G2 beta-barrel.				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)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)									0.251748	88.32705	96.335992	36	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236195859	236195859	10815	1	G	T	T	T	429	33	NID1	2	2
NID1	4811	broad.mit.edu	37	1	236201439	236201439	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236201439C>A	uc001hxo.2	-	c.1250G>T	c.(1249-1251)GGC>GTC	p.G417V	NID1_uc009xgd.2_Missense_Mutation_p.G417V	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	417	EGF-like 1.				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)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)									0.244635	144.688836	158.511368	57	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236201439	236201439	10815	1	C	A	A	A	338	26	NID1	2	2
RYR2	6262	broad.mit.edu	37	1	237729943	237729943	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237729943G>A	uc001hyl.1	+	c.3291G>A	c.(3289-3291)AAG>AAA	p.K1097K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1097	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				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)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.291304	198.4229	207.403157	67	163	KEEP	---	---	---	---	capture		Silent	SNP	237729943	237729943	14249	1	G	A	A	A	451	35	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237955446	237955446	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237955446G>T	uc001hyl.1	+	c.13605G>T	c.(13603-13605)ACG>ACT	p.T4535T	RYR2_uc010pyb.1_5'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4535					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)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.159091	14.500666	19.369206	7	37	KEEP	---	---	---	---	capture		Silent	SNP	237955446	237955446	14249	1	G	T	T	T	470	37	RYR2	1	1
ZP4	57829	broad.mit.edu	37	1	238051764	238051764	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238051764C>A	uc001hym.2	-	c.447G>T	c.(445-447)CGG>CGT	p.R149R	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	149	P-type.|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)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.179012	113.775751	145.178869	58	266	KEEP	---	---	---	---	capture		Silent	SNP	238051764	238051764	18822	1	C	A	A	A	275	22	ZP4	2	2
MYOM3	127294	broad.mit.edu	37	1	24388533	24388533	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24388533G>A	uc001bin.3	-	c.3837C>T	c.(3835-3837)CAC>CAT	p.H1279H	MYOM3_uc001bil.3_Silent_p.H172H|MYOM3_uc001bim.3_Silent_p.H936H	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1279										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)		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)										0.107296	40.491227	111.820715	50	416	KEEP	---	---	---	---	capture		Silent	SNP	24388533	24388533	10488	1	G	A	A	A	620	48	MYOM3	2	2
MYOM3	127294	broad.mit.edu	37	1	24421441	24421441	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24421441A>T	uc001bin.3	-	c.830T>A	c.(829-831)CTG>CAG	p.L277Q	MYOM3_uc001bim.3_5'UTR|MYOM3_uc001bio.2_Missense_Mutation_p.L277Q|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	277	Ig-like C2-type 2.									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)		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)										0.104478	6.07512	16.502009	7	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24421441	24421441	10488	1	A	T	T	T	91	7	MYOM3	3	3
NLRP3	114548	broad.mit.edu	37	1	247587802	247587802	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247587802G>T	uc001icr.2	+	c.1057G>T	c.(1057-1059)GTG>TTG	p.V353L	NLRP3_uc001ics.2_Missense_Mutation_p.V353L|NLRP3_uc001icu.2_Missense_Mutation_p.V353L|NLRP3_uc001icw.2_Missense_Mutation_p.V353L|NLRP3_uc001icv.2_Missense_Mutation_p.V353L|NLRP3_uc010pyw.1_Missense_Mutation_p.V351L|NLRP3_uc001ict.1_Missense_Mutation_p.V351L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	353	NACHT.				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)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.26087	186.131396	199.227547	66	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247587802	247587802	10881	1	G	T	T	T	624	48	NLRP3	2	2
OR2B11	127623	broad.mit.edu	37	1	247614463	247614463	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247614463C>A	uc010pyx.1	-	c.822G>T	c.(820-822)CAG>CAT	p.Q274H		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	274	Extracellular (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)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)											0.203463	212.368944	250.103315	94	368	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247614463	247614463	11394	1	C	A	A	A	311	24	OR2B11	2	2
OR2C3	81472	broad.mit.edu	37	1	247695356	247695358	+	Missense	Complex_substitution	CNC	ANT	ANT			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247695356C>A	uc009xgy.2	-	c.458G>T	c.(457-459)GGT>GTT	p.G153V	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	153	Helical; Name=4; (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)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)											0.257143	48.031868	51.764797	18	52	KEEP	---	---	---	---	capture		Missense	Complex_substitution	247695356	247695358	11399	1	CNC	ANT	ANT	A	234	18	OR2C3	5	5
OR2G2	81470	broad.mit.edu	37	1	247752128	247752128	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247752128T>C	uc010pyy.1	+	c.467T>C	c.(466-468)ATA>ACA	p.I156T		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	156	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.265873	402.982453	427.905789	134	370	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247752128	247752128	11404	1	T	C	C	C	637	49	OR2G2	4	4
OR2G3	81469	broad.mit.edu	37	1	247769640	247769640	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247769640C>A	uc010pyz.1	+	c.753C>A	c.(751-753)TTC>TTA	p.F251L		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	251	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)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.204918	52.516814	62.366303	25	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247769640	247769640	11405	1	C	A	A	A	415	32	OR2G3	2	2
NIPAL3	57185	broad.mit.edu	37	1	24785406	24785406	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24785406G>T	uc001bjh.2	+	c.802G>T	c.(802-804)GAC>TAC	p.D268Y	NIPAL3_uc001bjg.2_Missense_Mutation_p.D268Y|NIPAL3_uc009vrc.2_Missense_Mutation_p.D186Y|NIPAL3_uc001bji.2_Missense_Mutation_p.R76L	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	268						integral to membrane					0														0.253333	100.25773	108.56394	38	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24785406	24785406	10827	1	G	T	T	T	481	37	NIPAL3	1	1
OR14A16	284532	broad.mit.edu	37	1	247978554	247978554	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247978554C>A	uc001idm.1	-	c.478G>T	c.(478-480)GGC>TGC	p.G160C		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	160	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						Ovarian(112;180 1586 15073 21914 33526)								0.208029	131.420315	152.994132	57	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247978554	247978554	11351	1	C	A	A	A	273	21	OR14A16	2	2
OR2W3	343171	broad.mit.edu	37	1	248059311	248059311	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059311C>G	uc001idp.1	+	c.423C>G	c.(421-423)TGC>TGG	p.C141W	OR2W3_uc010pzb.1_Missense_Mutation_p.C141W	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.203704	89.58922	102.786688	33	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248059311	248059311	11439	1	C	G	G	G	337	26	OR2W3	3	3
OR2W3	343171	broad.mit.edu	37	1	248059622	248059622	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059622T>A	uc001idp.1	+	c.734T>A	c.(733-735)CTC>CAC	p.L245H	OR2W3_uc010pzb.1_Missense_Mutation_p.L245H	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.065292	-21.073271	36.02746	19	272	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248059622	248059622	11439	1	T	A	A	A	702	54	OR2W3	3	3
OR2T8	343172	broad.mit.edu	37	1	248084416	248084416	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248084416G>T	uc010pzc.1	+	c.97G>T	c.(97-99)GTT>TTT	p.V33F		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	33	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.118943	40.881217	73.228309	27	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248084416	248084416	11436	1	G	T	T	T	520	40	OR2T8	1	1
OR2L3	391192	broad.mit.edu	37	1	248224532	248224532	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248224532G>A	uc001idx.1	+	c.549G>A	c.(547-549)ATG>ATA	p.M183I	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)											0.173669	125.81953	161.724775	62	295	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248224532	248224532	11414	1	G	A	A	A	611	47	OR2L3	2	2
OR2M7	391196	broad.mit.edu	37	1	248487614	248487614	+	Nonsense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248487614A>T	uc010pzk.1	-	c.257T>A	c.(256-258)TTG>TAG	p.L86*		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	86	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.272152	487.154938	516.711288	172	460	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	248487614	248487614	11420	1	A	T	T	T	65	5	OR2M7	5	3
OR2M7	391196	broad.mit.edu	37	1	248487866	248487866	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248487866G>T	uc010pzk.1	-	c.5C>A	c.(4-6)GCA>GAA	p.A2E		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	2	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.202934	195.690679	229.242039	83	326	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248487866	248487866	11420	1	G	T	T	T	598	46	OR2M7	2	2
OR2T6	254879	broad.mit.edu	37	1	248551410	248551410	+	Silent	SNP	G	T	T	rs80259157	by1000genomes	TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248551410G>T	uc001iei.1	+	c.501G>T	c.(499-501)CCG>CCT	p.P167P		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	167	Extracellular (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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.300971	94.402118	98.036584	31	72	KEEP	---	---	---	---	capture		Silent	SNP	248551410	248551410	11435	1	G	T	T	T	509	40	OR2T6	1	1
OR2T34	127068	broad.mit.edu	37	1	248737445	248737445	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248737445T>A	uc001iep.1	-	c.614A>T	c.(613-615)TAC>TTC	p.Y205F		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	205	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.165198	146.364892	194.665449	75	379	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248737445	248737445	11431	1	T	A	A	A	741	57	OR2T34	3	3
OR2T10	127069	broad.mit.edu	37	1	248756948	248756948	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248756948C>G	uc010pzn.1	-	c.122G>C	c.(121-123)TGG>TCG	p.W41S		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	41	Helical; Name=1; (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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.464789	107.065189	107.142123	33	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248756948	248756948	11423	1	C	G	G	G	273	21	OR2T10	3	3
MMEL1	79258	broad.mit.edu	37	1	2537711	2537711	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:2537711C>T	uc001ajy.2	-	c.726G>A	c.(724-726)CAG>CAA	p.Q242Q	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	242	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)		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)										0.196078	49.24043	58.021088	20	82	KEEP	---	---	---	---	capture		Silent	SNP	2537711	2537711	10036	1	C	T	T	T	415	32	MMEL1	2	2
ZNF683	257101	broad.mit.edu	37	1	26688465	26688465	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26688465G>C	uc001bmg.1	-	c.1252C>G	c.(1252-1254)CGC>GGC	p.R418G	ZNF683_uc001bmh.1_Missense_Mutation_p.R398G|ZNF683_uc009vsj.1_Missense_Mutation_p.R398G	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	418	C2H2-type 3; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-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)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)										0.304965	126.870632	131.657268	43	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26688465	26688465	18685	1	G	C	C	C	494	38	ZNF683	3	3
PTAFR	5724	broad.mit.edu	37	1	28476668	28476668	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:28476668C>A	uc001bpl.2	-	c.865G>T	c.(865-867)GAC>TAC	p.D289Y	PTAFR_uc001bpm.3_Missense_Mutation_p.D289Y|PTAFR_uc009vte.2_Missense_Mutation_p.D289Y	NM_000952	NP_000943	P25105	PTAFR_HUMAN	platelet-activating factor receptor	289	Helical; Name=7; (Potential).				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)										0.286667	110.555046	116.684642	43	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28476668	28476668	13177	1	C	A	A	A	416	32	PTAFR	2	2
GMEB1	10691	broad.mit.edu	37	1	29041146	29041146	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:29041146C>T	uc001bra.2	+	c.1583C>T	c.(1582-1584)CCG>CTG	p.P528L	GMEB1_uc001bqz.2_Missense_Mutation_p.P518L|GMEB1_uc001brb.2_Missense_Mutation_p.P518L	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-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)										0.129252	29.028277	48.69821	19	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29041146	29041146	6756	1	C	T	T	T	299	23	GMEB1	1	1
PRDM16	63976	broad.mit.edu	37	1	3328631	3328631	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3328631G>T	uc001akf.2	+	c.1870G>T	c.(1870-1872)GAC>TAC	p.D624Y	PRDM16_uc001akc.2_Missense_Mutation_p.D624Y|PRDM16_uc001akd.2_Missense_Mutation_p.D624Y|PRDM16_uc001ake.2_Missense_Mutation_p.D624Y|PRDM16_uc009vlh.2_Missense_Mutation_p.D325Y	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	624					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)		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)						1161				0.086207	-0.817987	29.389276	15	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3328631	3328631	12899	1	G	T	T	T	533	41	PRDM16	2	2
CSMD2	114784	broad.mit.edu	37	1	34006151	34006151	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34006151C>A	uc001bxm.1	-	c.9605G>T	c.(9604-9606)TGG>TTG	p.W3202L	CSMD2_uc001bxn.1_Missense_Mutation_p.W3058L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3178	Sushi 25.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.105023	17.417807	51.351231	23	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34006151	34006151	4086	1	C	A	A	A	273	21	CSMD2	2	2
CSMD2	114784	broad.mit.edu	37	1	34209016	34209016	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34209016C>A	uc001bxm.1	-	c.2038G>T	c.(2038-2040)GCC>TCC	p.A680S	CSMD2_uc001bxn.1_Missense_Mutation_p.A640S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	640	Extracellular (Potential).|CUB 4.					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.094972	9.042504	38.525482	17	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34209016	34209016	4086	1	C	A	A	A	351	27	CSMD2	1	1
ZMYM4	9202	broad.mit.edu	37	1	35847281	35847281	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35847281G>T	uc001byt.2	+	c.1491G>T	c.(1489-1491)TCG>TCT	p.S497S	ZMYM4_uc009vuu.2_Silent_p.S465S|ZMYM4_uc001byu.2_Silent_p.S173S|ZMYM4_uc009vuv.2_Silent_p.S236S	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	497	MYM-type 3.				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)												0.10177	22.060678	57.797461	23	203	KEEP	---	---	---	---	capture		Silent	SNP	35847281	35847281	18293	1	G	T	T	T	496	39	ZMYM4	1	1
EIF2C3	192669	broad.mit.edu	37	1	36437711	36437711	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36437711G>T	uc001bzp.2	+	c.399G>T	c.(397-399)TGG>TGT	p.W133C	EIF2C3_uc001bzn.1_Missense_Mutation_p.W133C|EIF2C3_uc001bzo.2_Non-coding_Transcript|EIF2C3_uc001bzq.2_5'UTR	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	133					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)								0.128205	21.083245	36.81012	15	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36437711	36437711	5196	1	G	T	T	T	546	42	EIF2C3	2	2
SNIP1	79753	broad.mit.edu	37	1	38005774	38005774	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38005774C>A	uc001cbi.2	-	c.910G>T	c.(910-912)GCG>TCG	p.A304S	SNIP1_uc010oid.1_Non-coding_Transcript	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)												0.15873	77.751776	105.714389	40	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38005774	38005774	15348	1	C	A	A	A	325	25	SNIP1	2	2
EPHA10	284656	broad.mit.edu	37	1	38201007	38201007	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38201007G>A	uc009vvi.2	-	c.1413C>T	c.(1411-1413)TCC>TCT	p.S471S	EPHA10_uc001cbu.2_Non-coding_Transcript|EPHA10_uc001cbv.1_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	471	Fibronectin type-III 2.|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				0.230769	6.620061	7.482508	3	10	KEEP	---	---	---	---	capture		Silent	SNP	38201007	38201007	5359	1	G	A	A	A	548	43	EPHA10	2	2
WDR65	149465	broad.mit.edu	37	1	43638557	43638557	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43638557C>A	uc001cip.1	+	c.133C>A	c.(133-135)CAG>AAG	p.Q45K	EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Silent_p.I3I|WDR65_uc001ciq.1_Missense_Mutation_p.Q45K|EBNA1BP2_uc001cim.2_5'Flank|EBNA1BP2_uc001cin.2_5'Flank|EBNA1BP2_uc010ojx.1_5'Flank|EBNA1BP2_uc010ojy.1_5'Flank	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN	WD repeat domain 65	45											0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.26	95.328638	103.176333	39	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43638557	43638557	17889	1	C	A	A	A	377	29	WDR65	2	2
KIAA0467	23334	broad.mit.edu	37	1	43909130	43909130	+	Silent	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43909130T>C	uc001cjk.1	+	c.5910T>C	c.(5908-5910)TCT>TCC	p.S1970S	KIAA0467_uc001cjl.1_5'Flank	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2869						peroxisome				breast(6)|ovary(4)|pancreas(1)	11	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.176471	27.445215	35.882954	15	70	KEEP	---	---	---	---	capture		Silent	SNP	43909130	43909130	8485	1	T	C	C	C	704	55	KIAA0467	4	4
PTPRF	5792	broad.mit.edu	37	1	44084819	44084819	+	Missense_Mutation	SNP	G	A	A	rs70937045		TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:44084819G>A	uc001cjr.2	+	c.4592G>A	c.(4591-4593)CGA>CAA	p.R1531Q	PTPRF_uc001cjs.2_Missense_Mutation_p.R1522Q|PTPRF_uc001cju.2_Missense_Mutation_p.R920Q|PTPRF_uc009vwt.2_Missense_Mutation_p.R1091Q|PTPRF_uc001cjv.2_Missense_Mutation_p.R1002Q|PTPRF_uc001cjw.2_Missense_Mutation_p.R757Q	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1531	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)												0.178082	26.927481	34.052527	13	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44084819	44084819	13258	1	G	A	A	A	481	37	PTPRF	1	1
TXNDC12	51060	broad.mit.edu	37	1	52486661	52486661	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52486661G>A	uc001cti.2	-	c.463C>T	c.(463-465)CAG>TAG	p.Q155*		NM_015913	NP_056997	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 precursor	Error:Variant_position_missing_in_O95831_after_alignment					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(1)	1														0.147541	31.862685	46.422636	18	104	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52486661	52486661	17349	1	G	A	A	A	585	45	TXNDC12	5	2
C8B	732	broad.mit.edu	37	1	57409484	57409484	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57409484G>T	uc001cyp.2	-	c.1119C>A	c.(1117-1119)AAC>AAA	p.N373K	C8B_uc010oon.1_Missense_Mutation_p.N311K|C8B_uc010ooo.1_Missense_Mutation_p.N321K	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	373	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4														0.123377	30.324755	51.686156	19	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57409484	57409484	2526	1	G	T	T	T	620	48	C8B	2	2
CHD5	26038	broad.mit.edu	37	1	6173020	6173020	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6173020G>A	uc001amb.1	-	c.4951C>T	c.(4951-4953)CTG>TTG	p.L1651L	CHD5_uc001alz.1_Silent_p.L508L|CHD5_uc001ama.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1651					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)		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)						2304				0.097826	10.502031	40.313313	18	166	KEEP	---	---	---	---	capture		Silent	SNP	6173020	6173020	3462	1	G	A	A	A	438	34	CHD5	2	2
HES2	54626	broad.mit.edu	37	1	6479306	6479306	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6479306G>A	uc001amx.2	-	c.236C>T	c.(235-237)GCG>GTG	p.A79V	HES2_uc001amw.2_Intron	NM_019089	NP_061962	Q9Y543	HES2_HUMAN	hairy and enhancer of split homolog 2	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription regulator activity				0	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)										0.222222	19.245283	21.755575	8	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6479306	6479306	7349	1	G	A	A	A	494	38	HES2	1	1
TAS1R1	80835	broad.mit.edu	37	1	6639557	6639557	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6639557C>A	uc001ant.2	+	c.2439C>A	c.(2437-2439)TAC>TAA	p.Y813*	TAS1R1_uc001anu.2_Nonsense_Mutation_p.Y559*|TAS1R1_uc001anv.2_3'UTR|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	813	Helical; Name=7; (Potential).				sensory perception of umami taste	integral to membrane|plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|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)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|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;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)										0.183007	66.529228	80.9445	28	125	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	6639557	6639557	16084	1	C	A	A	A	246	19	TAS1R1	5	1
INSL5	10022	broad.mit.edu	37	1	67266839	67266839	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67266839G>T	uc001dcw.2	-	c.66C>A	c.(64-66)AGC>AGA	p.S22R		NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN	insulin-like 5 precursor	22						extracellular region	hormone activity				0														0.270677	97.838015	104.148568	36	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67266839	67266839	8070	1	G	T	T	T	594	46	INSL5	2	2
LRRC7	57554	broad.mit.edu	37	1	70504811	70504811	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70504811A>G	uc001dep.2	+	c.3190A>G	c.(3190-3192)AAA>GAA	p.K1064E	LRRC7_uc009wbg.2_Missense_Mutation_p.K348E|LRRC7_uc001deq.2_Missense_Mutation_p.K305E	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1064						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.317647	75.561409	78.093624	27	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70504811	70504811	9396	1	A	G	G	G	65	5	LRRC7	4	4
NEGR1	257194	broad.mit.edu	37	1	72400910	72400910	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:72400910C>A	uc001dfw.2	-	c.261G>T	c.(259-261)GTG>GTT	p.V87V	NEGR1_uc001dfv.2_5'UTR|NEGR1_uc010oqs.1_Silent_p.V87V	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	87	Ig-like C2-type 1.				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)		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)										0.221519	86.760037	98.022138	35	123	KEEP	---	---	---	---	capture		Silent	SNP	72400910	72400910	10716	1	C	A	A	A	262	21	NEGR1	2	2
C1orf173	127254	broad.mit.edu	37	1	75042610	75042610	+	Silent	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75042610T>A	uc001dgg.2	-	c.2187A>T	c.(2185-2187)TCA>TCT	p.S729S		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	729	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.08547	5.174985	25.545358	10	107	KEEP	---	---	---	---	capture		Silent	SNP	75042610	75042610	2081	1	T	A	A	A	652	51	C1orf173	3	3
C1orf173	127254	broad.mit.edu	37	1	75097613	75097613	+	Splice_Site_SNP	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75097613C>G	uc001dgg.2	-	c.604_splice	c.e7-1	p.G202_splice	C1orf173_uc001dgi.3_Splice_Site_SNP	NM_001002912	NP_001002912			hypothetical protein LOC127254											ovary(3)|central_nervous_system(1)	4														0.076923	3.702389	39.400145	15	180	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	75097613	75097613	2081	1	C	G	G	G	312	24	C1orf173	5	3
PTGFR	5737	broad.mit.edu	37	1	78959150	78959150	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:78959150G>C	uc001din.2	+	c.722G>C	c.(721-723)AGA>ACA	p.R241T	PTGFR_uc001dim.2_Missense_Mutation_p.R241T	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	241	Cytoplasmic (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)	3				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)									0.254902	119.950174	128.292501	39	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78959150	78959150	13204	1	G	C	C	C	429	33	PTGFR	3	3
ELTD1	64123	broad.mit.edu	37	1	79402013	79402013	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:79402013A>T	uc001diq.3	-	c.844T>A	c.(844-846)TTT>ATT	p.F282I		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	282	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)	1				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)										0.116667	42.646493	77.322065	28	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79402013	79402013	5276	1	A	T	T	T	52	4	ELTD1	3	3
TGFBR3	7049	broad.mit.edu	37	1	92174229	92174229	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:92174229C>A	uc001doh.2	-	c.2278G>T	c.(2278-2280)GAA>TAA	p.E760*	TGFBR3_uc009wde.2_Nonsense_Mutation_p.E455*|TGFBR3_uc010osy.1_Nonsense_Mutation_p.E718*|TGFBR3_uc001doi.2_Nonsense_Mutation_p.E759*|TGFBR3_uc001doj.2_Nonsense_Mutation_p.E759*	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	760	Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)										0.27459	172.710712	183.88317	67	177	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	92174229	92174229	16351	1	C	A	A	A	416	32	TGFBR3	5	2
ABCA4	24	broad.mit.edu	37	1	94574149	94574149	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:94574149G>T	uc001dqh.2	-	c.426C>A	c.(424-426)CAC>CAA	p.H142Q	ABCA4_uc010otn.1_Missense_Mutation_p.H142Q	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	142	Extracellular.				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)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)										0.25	109.485545	119.020372	42	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94574149	94574149	35	1	G	T	T	T	568	44	ABCA4	2	2
LPPR4	9890	broad.mit.edu	37	1	99767413	99767413	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99767413A>C	uc001dse.2	+	c.926A>C	c.(925-927)TAT>TCT	p.Y309S	LPPR4_uc010oue.1_Intron	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	309	Helical; (Potential).						phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)										0.138122	55.561646	78.473905	25	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99767413	99767413	9300	1	A	C	C	C	208	16	LPPR4	4	4
VPS16	64601	broad.mit.edu	37	20	2840774	2840774	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2840774G>T	uc002whe.2	+	c.217G>T	c.(217-219)GGC>TGC	p.G73C	VPS16_uc002whh.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.G73C|VPS16_uc002whd.2_Non-coding_Transcript|VPS16_uc002whg.2_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 isoform 1	73					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				ovary(2)|pancreas(1)	3														0.312236	221.396283	228.817356	74	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2840774	2840774	17760	20	G	T	T	T	507	39	VPS16	1	1
DUSP15	128853	broad.mit.edu	37	20	30454916	30454916	+	Silent	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30454916T>A	uc002wwx.1	-	c.96A>T	c.(94-96)ACA>ACT	p.T32T	DUSP15_uc002wwu.1_Silent_p.T29T|DUSP15_uc002wwv.1_5'UTR|DUSP15_uc002www.1_5'UTR	NM_080611	NP_542178	Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15 isoform a	29						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.25	9.891205	10.801423	4	12	KEEP	---	---	---	---	capture		Silent	SNP	30454916	30454916	5000	20	T	A	A	A	756	59	DUSP15	3	3
C20orf114	92747	broad.mit.edu	37	20	31873972	31873972	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31873972C>T	uc002wyw.1	+	c.93C>T	c.(91-93)CTC>CTT	p.L31L	C20orf114_uc010gej.1_Silent_p.L31L	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	LPLUNC1 protein precursor	31						extracellular space	lipid binding			central_nervous_system(2)	2														0.17284	55.223334	71.583222	28	134	KEEP	---	---	---	---	capture		Silent	SNP	31873972	31873972	2158	20	C	T	T	T	392	31	C20orf114	1	1
FAM83C	128876	broad.mit.edu	37	20	33876672	33876672	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33876672G>T	uc010zux.1	-	c.603C>A	c.(601-603)TAC>TAA	p.Y201*	FAM83C_uc002xcb.1_Nonsense_Mutation_p.Y25*	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	201										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)											0.327684	164.288175	168.949581	58	119	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	33876672	33876672	5861	20	G	T	T	T	568	44	FAM83C	5	2
SAMHD1	25939	broad.mit.edu	37	20	35540928	35540928	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35540928G>A	uc002xgh.1	-	c.1090C>T	c.(1090-1092)CAC>TAC	p.H364Y		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	364					defense response to virus|innate immune response|regulation of innate immune response	nucleus	hydrolase activity				0		Myeloproliferative disorder(115;0.00878)												0.297872	84.361681	87.795612	28	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35540928	35540928	14308	20	G	A	A	A	611	47	SAMHD1	2	2
LBP	3929	broad.mit.edu	37	20	36993349	36993349	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36993349G>T	uc002xic.1	+	c.864G>T	c.(862-864)ACG>ACT	p.T288T		NM_004139	NP_004130	P18428	LBP_HUMAN	lipopolysaccharide-binding protein precursor	288					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)												0.310078	234.740086	243.010764	80	178	KEEP	---	---	---	---	capture		Silent	SNP	36993349	36993349	8974	20	G	T	T	T	496	39	LBP	1	1
LBP	3929	broad.mit.edu	37	20	36993396	36993396	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36993396C>A	uc002xic.1	+	c.911C>A	c.(910-912)ACA>AAA	p.T304K		NM_004139	NP_004130	P18428	LBP_HUMAN	lipopolysaccharide-binding protein precursor	304					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)												0.299539	185.682579	193.479014	65	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36993396	36993396	8974	20	C	A	A	A	221	17	LBP	2	2
ZSWIM3	140831	broad.mit.edu	37	20	44505620	44505620	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44505620C>T	uc002xqd.2	+	c.423C>T	c.(421-423)GCC>GCT	p.A141A	ZSWIM3_uc010zxg.1_Silent_p.A135A	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	141							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)												0.122642	17.400344	32.177773	13	93	KEEP	---	---	---	---	capture		Silent	SNP	44505620	44505620	18846	20	C	T	T	T	288	23	ZSWIM3	1	1
MMP9	4318	broad.mit.edu	37	20	44637627	44637627	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44637627C>T	uc002xqz.2	+	c.62C>T	c.(61-63)CCC>CTC	p.P21L		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	21					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				0.32	47.144432	48.552002	16	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44637627	44637627	10060	20	C	T	T	T	286	22	MMP9	2	2
RASSF2	9770	broad.mit.edu	37	20	4770300	4770300	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4770300C>A	uc002wld.2	-	c.581G>T	c.(580-582)CGC>CTC	p.R194L	RASSF2_uc002wlc.2_Non-coding_Transcript|RASSF2_uc002wle.2_Non-coding_Transcript|RASSF2_uc002wlf.2_Missense_Mutation_p.R194L|RASSF2_uc010gbh.2_5'Flank	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	194	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding	p.R194H(1)		ovary(3)|lung(2)|large_intestine(1)	6						Melanoma(158;1891 3343 50738)								0.222222	46.508202	52.257199	18	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4770300	4770300	13547	20	C	A	A	A	351	27	RASSF2	1	1
BCAS1	8537	broad.mit.edu	37	20	52591957	52591957	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:52591957C>G	uc002xws.2	-	c.1153G>C	c.(1153-1155)GAC>CAC	p.D385H	BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Missense_Mutation_p.D333H|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Intron|BCAS1_uc010gil.1_Missense_Mutation_p.D385H	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	385						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)											0.122642	22.107305	36.884244	13	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52591957	52591957	1371	20	C	G	G	G	390	30	BCAS1	3	3
BCAS1	8537	broad.mit.edu	37	20	52612502	52612502	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:52612502C>A	uc002xws.2	-	c.811G>T	c.(811-813)GCA>TCA	p.A271S	BCAS1_uc010zza.1_5'UTR|BCAS1_uc010zzb.1_Missense_Mutation_p.A174S|BCAS1_uc010gim.2_Missense_Mutation_p.A174S|BCAS1_uc002xwt.2_Missense_Mutation_p.A271S|BCAS1_uc010gil.1_Missense_Mutation_p.A271S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	271						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)											0.239437	87.296358	96.085607	34	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52612502	52612502	1371	20	C	A	A	A	325	25	BCAS1	2	2
ZNF831	128611	broad.mit.edu	37	20	57829002	57829002	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57829002C>G	uc002yan.2	+	c.4238C>G	c.(4237-4239)ACT>AGT	p.T1413S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1413						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.087838	12.657778	38.083434	13	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57829002	57829002	18784	20	C	G	G	G	260	20	ZNF831	3	3
EDN3	1908	broad.mit.edu	37	20	57876663	57876663	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57876663C>A	uc002yap.2	+	c.251C>A	c.(250-252)GCG>GAG	p.A84E	EDN3_uc002yao.1_Missense_Mutation_p.A84E|EDN3_uc002yaq.2_Missense_Mutation_p.A84E|EDN3_uc002yar.2_Missense_Mutation_p.A84E|EDN3_uc002yas.2_Missense_Mutation_p.A84E	NM_000114	NP_000105	P14138	EDN3_HUMAN	endothelin 3 isoform 1 preproprotein	84					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)													0.104167	11.934296	34.287322	15	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57876663	57876663	5105	20	C	A	A	A	351	27	EDN3	1	1
PHACTR3	116154	broad.mit.edu	37	20	58348406	58348406	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:58348406C>T	uc002yau.2	+	c.824C>T	c.(823-825)CCC>CTC	p.P275L	PHACTR3_uc002yat.2_Missense_Mutation_p.P272L|PHACTR3_uc010zzw.1_Missense_Mutation_p.P234L|PHACTR3_uc002yav.2_Missense_Mutation_p.P234L|PHACTR3_uc002yaw.2_Missense_Mutation_p.P234L|PHACTR3_uc002yax.2_Missense_Mutation_p.P164L	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	275						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)											0.099502	12.755868	45.026797	20	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58348406	58348406	12234	20	C	T	T	T	286	22	PHACTR3	2	2
COL9A3	1299	broad.mit.edu	37	20	61460982	61460982	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61460982C>A	uc002ydm.2	+	c.1056C>A	c.(1054-1056)GGC>GGA	p.G352G		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	352	Triple-helical region 3 (COL3).				axon guidance	collagen type IX	extracellular matrix structural constituent conferring tensile strength				0	Breast(26;5.68e-08)													0.181818	6.882051	8.982422	4	18	KEEP	---	---	---	---	capture		Silent	SNP	61460982	61460982	3847	20	C	A	A	A	314	25	COL9A3	2	2
SLC17A9	63910	broad.mit.edu	37	20	61588903	61588903	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61588903T>C	uc002yea.3	+	c.368T>C	c.(367-369)TTC>TCC	p.F123S	SLC17A9_uc002ydz.3_Missense_Mutation_p.F117S|SLC17A9_uc011aap.1_Missense_Mutation_p.F143S	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	vesicular nucleotide transporter SLC17A9	123	Helical; (Potential).				exocytosis|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1														0.215385	35.622916	40.477133	14	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61588903	61588903	14920	20	T	C	C	C	806	62	SLC17A9	4	4
RTEL1	51750	broad.mit.edu	37	20	62312042	62312042	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62312042C>T	uc002yft.1	+	c.1161C>T	c.(1159-1161)GCC>GCT	p.A387A	RTEL1_uc011abc.1_Non-coding_Transcript|RTEL1_uc002yfu.1_Silent_p.A387A|RTEL1_uc011abd.1_Silent_p.A411A|RTEL1_uc011abe.1_Silent_p.A164A|RTEL1_uc002yfw.2_Non-coding_Transcript	NM_032957	NP_116575	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	387					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)		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)											0.170507	79.087666	101.255255	37	180	KEEP	---	---	---	---	capture		Silent	SNP	62312042	62312042	14200	20	C	T	T	T	288	23	RTEL1	1	1
TCEA2	6919	broad.mit.edu	37	20	62697832	62697832	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62697832G>T	uc010gks.2	+	c.76G>T	c.(76-78)GGA>TGA	p.G26*	TCEA2_uc011abr.1_5'UTR|TCEA2_uc010gkq.2_5'UTR|TCEA2_uc011abs.1_Nonsense_Mutation_p.G26*|TCEA2_uc010gkt.2_5'UTR|TCEA2_uc010gku.1_5'UTR	NM_003195	NP_003186	Q15560	TCEA2_HUMAN	transcription elongation factor A protein 2	26	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|RNA polymerase II transcription factor activity|transcription elongation regulator activity|translation elongation factor activity|zinc ion binding				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)													0.095057	12.186086	55.474219	25	238	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	62697832	62697832	16194	20	G	T	T	T	559	43	TCEA2	5	2
PLCB1	23236	broad.mit.edu	37	20	8770893	8770894	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:8770893_8770894GG>TT	uc002wnb.2	+	c.3408_3409GG>TT	c.(3406-3411)CTGGAT>CTTTAT	p.D1137Y	PLCB1_uc002wna.2_Missense_Mutation_p.D1137Y	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	1137					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														0.258065	21.584395	23.229346	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	8770893	8770894	12453	20	GG	TT	TT	TT	600	47	PLCB1	2	2
CLDN14	23562	broad.mit.edu	37	21	37833580	37833580	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37833580C>A	uc002yvk.1	-	c.414G>T	c.(412-414)TGG>TGT	p.W138C	CLDN14_uc002yvn.1_Missense_Mutation_p.W138C|CLDN14_uc002yvo.1_Missense_Mutation_p.W138C|CLDN14_uc002yvl.1_Missense_Mutation_p.W138C|CLDN14_uc002yvm.1_Missense_Mutation_p.W138C	NM_012130	NP_036262	O95500	CLD14_HUMAN	claudin 14	138	Extracellular (Potential).				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0														0.127517	19.433748	39.598132	19	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37833580	37833580	3611	21	C	A	A	A	390	30	CLDN14	2	2
ERG	2078	broad.mit.edu	37	21	39775598	39775598	+	Missense_Mutation	SNP	T	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:39775598T>G	uc010gnw.2	-	c.443A>C	c.(442-444)CAG>CCG	p.Q148P	ERG_uc002yxa.2_Missense_Mutation_p.Q141P|ERG_uc011aek.1_Missense_Mutation_p.Q49P|ERG_uc010gnv.2_Missense_Mutation_p.Q49P|ERG_uc010gnx.2_Missense_Mutation_p.Q148P|ERG_uc011ael.1_Missense_Mutation_p.Q148P|ERG_uc002yxb.2_Missense_Mutation_p.Q148P|ERG_uc011aem.1_Intron|ERG_uc002yxc.3_Missense_Mutation_p.Q148P|ERG_uc010gny.1_Non-coding_Transcript	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	148	PNT.				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				0.186813	40.9224	49.282485	17	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39775598	39775598	5415	21	T	G	G	G	715	55	ERG	4	4
IGSF5	150084	broad.mit.edu	37	21	41137527	41137527	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41137527G>T	uc002yyo.2	+	c.166G>T	c.(166-168)GCT>TCT	p.A56S		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily 5 like	56	Ig-like V-type 1.|Extracellular (Potential).					integral to membrane|tight junction					0		Prostate(19;5.35e-06)												0.169355	37.401237	50.237389	21	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41137527	41137527	7903	21	G	T	T	T	546	42	IGSF5	2	2
DSCAM	1826	broad.mit.edu	37	21	41725556	41725556	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41725556C>T	uc002yyq.1	-	c.770G>A	c.(769-771)CGC>CAC	p.R257H	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	257	Extracellular (Potential).|Ig-like C2-type 3.				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)								0.149123	28.695873	42.16935	17	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41725556	41725556	4952	21	C	T	T	T	351	27	DSCAM	1	1
MX2	4600	broad.mit.edu	37	21	42771258	42771258	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:42771258C>T	uc002yzf.1	+	c.1408C>T	c.(1408-1410)CAA>TAA	p.Q470*	MX2_uc002yzg.1_Nonsense_Mutation_p.Q193*|MX2_uc010gop.1_Intron	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	470					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)												0.145985	31.475749	48.067265	20	117	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42771258	42771258	10392	21	C	T	T	T	273	21	MX2	5	2
ZNF295	49854	broad.mit.edu	37	21	43412161	43412161	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43412161G>T	uc002zab.3	-	c.2044C>A	c.(2044-2046)CTC>ATC	p.L682I	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.L682I|ZNF295_uc002zaa.3_Missense_Mutation_p.L682I	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	682	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.1	15.417368	66.682177	32	288	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43412161	43412161	18419	21	G	T	T	T	429	33	ZNF295	2	2
UMODL1	89766	broad.mit.edu	37	21	43524089	43524089	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43524089G>T	uc002zag.1	+	c.1411G>T	c.(1411-1413)GTG>TTG	p.V471L	UMODL1_uc002zad.1_Missense_Mutation_p.V399L|UMODL1_uc002zae.1_Missense_Mutation_p.V399L|UMODL1_uc002zaf.1_Missense_Mutation_p.V471L|UMODL1_uc010gow.1_Missense_Mutation_p.V263L|UMODL1_uc002zai.1_Missense_Mutation_p.V122L|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.V122L|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.V216L|C21orf128_uc002zak.2_Missense_Mutation_p.H48Q	NM_173568	NP_775839	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 2 precursor	471	Extracellular (Potential).|SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)	2						Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)								0.259649	207.094765	221.95543	74	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43524089	43524089	17538	21	G	T	T	T	520	40	UMODL1	1	1
KRTAP10-8	386681	broad.mit.edu	37	21	46032564	46032564	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46032564G>T	uc002zfo.1	+	c.547G>T	c.(547-549)GCT>TCT	p.A183S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	keratin associated protein 10-8	183	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|breast(1)	2														0.28169	242.164801	257.309897	100	255	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46032564	46032564	8830	21	G	T	T	T	546	42	KRTAP10-8	2	2
CCT8L2	150160	broad.mit.edu	37	22	17071902	17071902	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17071902C>G	uc002zlp.1	-	c.1539G>C	c.(1537-1539)CAG>CAC	p.Q513H		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	513					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)												0.389513	333.068851	335.944391	104	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17071902	17071902	3088	22	C	G	G	G	363	28	CCT8L2	3	3
MICAL3	57553	broad.mit.edu	37	22	18301457	18301457	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18301457C>A	uc002zng.3	-	c.3970G>T	c.(3970-3972)GTG>TTG	p.V1324L	MICAL3_uc011agl.1_Missense_Mutation_p.V1240L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1324	Pro-rich.				oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)										0.4	198.080686	199.475744	64	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18301457	18301457	9961	22	C	A	A	A	234	18	MICAL3	2	2
SEZ6L	23544	broad.mit.edu	37	22	26761403	26761403	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26761403C>A	uc003acb.2	+	c.2665C>A	c.(2665-2667)CGA>AGA	p.R889R	SEZ6L_uc003acc.2_Silent_p.R889R|SEZ6L_uc011akc.1_Silent_p.R889R|SEZ6L_uc003acd.2_Silent_p.R825R|SEZ6L_uc011akd.1_Silent_p.R889R|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Silent_p.R662R|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	889	Sushi 5.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.313901	202.59593	209.454817	70	153	KEEP	---	---	---	---	capture		Silent	SNP	26761403	26761403	14632	22	C	A	A	A	347	27	SEZ6L	1	1
C22orf42	150297	broad.mit.edu	37	22	32550243	32550243	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32550243G>T	uc003amd.2	-	c.295C>A	c.(295-297)CTA>ATA	p.L99I		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	99										ovary(1)	1														0.297753	140.497258	147.011278	53	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32550243	32550243	2231	22	G	T	T	T	425	33	C22orf42	2	2
RANGAP1	5905	broad.mit.edu	37	22	41657531	41657531	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:41657531C>A	uc003azs.2	-	c.534G>T	c.(532-534)AAG>AAT	p.K178N	RANGAP1_uc003azt.2_Missense_Mutation_p.K178N|RANGAP1_uc003azu.2_Missense_Mutation_p.K178N|RANGAP1_uc011aoz.1_Intron	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	178					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0														0.413793	105.980047	106.545575	36	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41657531	41657531	13493	22	C	A	A	A	363	28	RANGAP1	2	2
C22orf9	23313	broad.mit.edu	37	22	45598869	45598869	+	Splice_Site_SNP	SNP	A	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:45598869A>C	uc003bfv.1	-	c.879_splice	c.e6+1	p.R293_splice	C22orf9_uc003bfx.1_Splice_Site_SNP_p.R284_splice|C22orf9_uc010gzw.1_Splice_Site_SNP_p.R136_splice|C22orf9_uc003bfw.1_Splice_Site_SNP_p.R289_splice|C22orf9_uc010gzx.2_Splice_Site_SNP_p.R266_splice|MIR1249_hsa-mir-1249|MI0006384_5'Flank	NM_001009880	NP_001009880			hypothetical protein LOC23313 isoform b								protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)										0.242991	72.908643	79.34864	26	81	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	45598869	45598869	2234	22	A	C	C	C	182	14	C22orf9	5	4
SMC1B	27127	broad.mit.edu	37	22	45802673	45802673	+	Silent	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:45802673T>A	uc003bgc.2	-	c.372A>T	c.(370-372)ATA>ATT	p.I124I	SMC1B_uc003bgd.2_Silent_p.I124I|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	124					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)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)										0.289062	103.823755	108.928438	37	91	KEEP	---	---	---	---	capture		Silent	SNP	45802673	45802673	15280	22	T	A	A	A	680	53	SMC1B	3	3
ZBED4	9889	broad.mit.edu	37	22	50277734	50277734	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50277734G>A	uc003bix.2	+	c.424G>A	c.(424-426)GAG>AAG	p.E142K		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	142	BED-type 1.					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		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)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)										0.330189	99.893827	102.600473	35	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50277734	50277734	18104	22	G	A	A	A	533	41	ZBED4	2	2
SHANK3	85358	broad.mit.edu	37	22	51143400	51143400	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:51143400G>T	uc003bne.1	+	c.1953G>T	c.(1951-1953)GGG>GGT	p.G651G	SHANK3_uc003bnf.1_Silent_p.G106G	NM_001080420	NP_001073889			SH3 and multiple ankyrin repeat domains 3											central_nervous_system(1)	1		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)										0.245283	96.550569	105.943791	39	120	KEEP	---	---	---	---	capture		Silent	SNP	51143400	51143400	14758	22	G	T	T	T	548	43	SHANK3	2	2
SLC5A7	60482	broad.mit.edu	37	2	108604640	108604640	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:108604640C>A	uc002tdv.2	+	c.29C>A	c.(28-30)GCT>GAT	p.A10D	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.A10D|SLC5A7_uc010ywn.1_Intron	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	10	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)	3					Choline(DB00122)									0.180124	60.890303	76.371807	29	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108604640	108604640	15167	2	C	A	A	A	364	28	SLC5A7	2	2
ZC3H6	376940	broad.mit.edu	37	2	113089158	113089158	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113089158C>G	uc002thq.1	+	c.2663C>G	c.(2662-2664)CCT>CGT	p.P888R		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	888							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4														0.262295	42.872018	45.990428	16	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113089158	113089158	18159	2	C	G	G	G	312	24	ZC3H6	3	3
FOXD4L1	200350	broad.mit.edu	37	2	114257955	114257955	+	Silent	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:114257955A>T	uc002tjw.3	+	c.1122A>T	c.(1120-1122)GGA>GGT	p.G374G		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	374					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific 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														0.103704	10.308341	31.367779	14	121	KEEP	---	---	---	---	capture		Silent	SNP	114257955	114257955	6242	2	A	T	T	T	132	11	FOXD4L1	3	3
CLASP1	23332	broad.mit.edu	37	2	122106236	122106236	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:122106236T>A	uc002tnc.2	-	c.4265A>T	c.(4264-4266)CAG>CTG	p.Q1422L	CLASP1_uc010yyv.1_Missense_Mutation_p.Q468L|CLASP1_uc002tmz.2_Missense_Mutation_p.Q507L|CLASP1_uc002tna.2_Missense_Mutation_p.Q468L|CLASP1_uc010yyw.1_Non-coding_Transcript|CLASP1_uc002tnb.2_Non-coding_Transcript|CLASP1_uc010yyx.1_Non-coding_Transcript|CLASP1_uc010yyy.1_Non-coding_Transcript|CLASP1_uc010yyz.1_Missense_Mutation_p.Q1363L|CLASP1_uc010yza.1_Missense_Mutation_p.Q1355L|CLASP1_uc010yzb.1_Non-coding_Transcript|CLASP1_uc010yzc.1_Non-coding_Transcript|CLASP1_uc002tmy.2_Missense_Mutation_p.Q258L	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	CLIP-associating protein 1 isoform 1	1422	Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Interaction with CLIP2 (By similarity).				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)													0.255814	29.104024	31.429865	11	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122106236	122106236	3590	2	T	A	A	A	715	55	CLASP1	3	3
CNTNAP5	129684	broad.mit.edu	37	2	125555897	125555897	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125555897G>A	uc010flu.2	+	c.3217G>A	c.(3217-3219)GGA>AGA	p.G1073R	CNTNAP5_uc002tno.2_Missense_Mutation_p.G1072R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1072	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.2	31.528805	36.981073	13	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125555897	125555897	3788	2	G	A	A	A	611	47	CNTNAP5	2	2
PROC	5624	broad.mit.edu	37	2	128183674	128183674	+	Nonsense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128183674T>A	uc010yzk.1	+	c.714T>A	c.(712-714)TGT>TGA	p.C238*	PROC_uc002tok.2_Nonsense_Mutation_p.C183*|PROC_uc002tol.2_Nonsense_Mutation_p.C204*|PROC_uc010yzi.1_Nonsense_Mutation_p.C239*|PROC_uc010yzj.1_Nonsense_Mutation_p.C78*|PROC_uc002tom.2_Nonsense_Mutation_p.C217*	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	183			C -> R (in patients with PROC deficiency).		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)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)									0.269841	90.797005	96.818373	34	92	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	128183674	128183674	12988	2	T	A	A	A	764	59	PROC	5	3
TRIB2	28951	broad.mit.edu	37	2	12880889	12880890	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:12880889_12880890TG>AT	uc002rbv.3	+	c.1001_1002TG>AT	c.(1000-1002)ATG>AAT	p.M334N	TRIB2_uc010yjp.1_Missense_Mutation_p.M198N	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	tribbles homolog 2	334					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein phosphorylation|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)									61				0.166667	30.970559	40.449534	15	75	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	12880889	12880890	17027	2	TG	AT	AT	AT	663	51	TRIB2	3	3
R3HDM1	23518	broad.mit.edu	37	2	136393555	136393555	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136393555A>T	uc002tuo.2	+	c.794A>T	c.(793-795)AAA>ATA	p.K265I	R3HDM1_uc010fni.2_Missense_Mutation_p.K263I|R3HDM1_uc002tup.2_Missense_Mutation_p.K209I|R3HDM1_uc010zbh.1_Missense_Mutation_p.K97I	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	265							nucleic acid binding				0				BRCA - Breast invasive adenocarcinoma(221;0.127)										0.206897	78.305122	92.158375	36	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136393555	136393555	13346	2	A	T	T	T	13	1	R3HDM1	3	3
NEB	4703	broad.mit.edu	37	2	152512820	152512820	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152512820G>A	uc010fnx.2	-	c.6342C>T	c.(6340-6342)CAC>CAT	p.H2114H		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2114	Nebulin 56.				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				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.261803	146.159461	158.130625	61	172	KEEP	---	---	---	---	capture		Silent	SNP	152512820	152512820	10701	2	G	A	A	A	620	48	NEB	2	2
NBAS	51594	broad.mit.edu	37	2	15417226	15417226	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:15417226C>A	uc002rcc.1	-	c.5139_splice	c.e43-1	p.G1713_splice	NBAS_uc010exl.1_Splice_Site_SNP_p.G785_splice|NBAS_uc002rcd.1_Splice_Site_SNP	NM_015909	NP_056993			neuroblastoma-amplified protein											ovary(2)|liver(1)	3														0.287671	60.242858	63.195528	21	52	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	15417226	15417226	10582	2	C	A	A	A	260	20	NBAS	5	2
TPO	7173	broad.mit.edu	37	2	1544403	1544403	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1544403G>A	uc002qww.2	+	c.2656G>A	c.(2656-2658)GAG>AAG	p.E886K	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.E829K|TPO_uc002qwr.2_Missense_Mutation_p.E886K|TPO_uc002qwx.2_Missense_Mutation_p.E829K|TPO_uc010yio.1_Missense_Mutation_p.E713K|TPO_uc010yip.1_Missense_Mutation_p.E842K|TPO_uc002qwy.1_Missense_Mutation_p.E182K|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	886	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(6)|pancreas(6)|skin(3)|lung(1)|kidney(1)	17	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)					723				0.303797	132.121048	137.561612	48	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1544403	1544403	16954	2	G	A	A	A	533	41	TPO	2	2
NBAS	51594	broad.mit.edu	37	2	15468435	15468435	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:15468435C>A	uc002rcc.1	-	c.4349G>T	c.(4348-4350)GGG>GTG	p.G1450V	NBAS_uc010exl.1_Missense_Mutation_p.G522V|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1450										ovary(2)|liver(1)	3														0.135458	47.487532	79.804085	34	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15468435	15468435	10582	2	C	A	A	A	286	22	NBAS	2	2
SCN1A	6323	broad.mit.edu	37	2	166896013	166896013	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166896013C>A	uc010zcz.1	-	c.2476G>T	c.(2476-2478)GGT>TGT	p.G826C	SCN1A_uc002udo.3_Missense_Mutation_p.G706C|SCN1A_uc010fpk.2_Missense_Mutation_p.G678C	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	837	II.|Helical; Name=S3 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)									0.365591	108.027957	109.50451	34	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166896013	166896013	14396	2	C	A	A	A	299	23	SCN1A	1	1
SCN9A	6335	broad.mit.edu	37	2	167133545	167133545	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167133545T>A	uc010fpl.2	-	c.2789A>T	c.(2788-2790)CAA>CTA	p.Q930L		NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	941	II.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)	11					Lamotrigine(DB00555)|Lidocaine(DB00281)									0.172308	102.510539	135.482018	56	269	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167133545	167133545	14407	2	T	A	A	A	819	63	SCN9A	3	3
VSNL1	7447	broad.mit.edu	37	2	17836616	17836616	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:17836616C>A	uc002rcm.2	+	c.531C>A	c.(529-531)AGC>AGA	p.S177R		NM_003385	NP_003376	P62760	VISL1_HUMAN	visinin-like 1	177	EF-hand 4.						calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.138365	39.89693	59.952746	22	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17836616	17836616	17795	2	C	A	A	A	350	27	VSNL1	1	1
OSBPL6	114880	broad.mit.edu	37	2	179259071	179259071	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179259071G>T	uc002uly.2	+	c.2680G>T	c.(2680-2682)GCA>TCA	p.A894S	OSBPL6_uc002ulx.2_Missense_Mutation_p.A869S|OSBPL6_uc010zfe.1_Missense_Mutation_p.A838S|OSBPL6_uc002ulz.2_Missense_Mutation_p.A833S|OSBPL6_uc002uma.2_Missense_Mutation_p.A873S	NM_145739	NP_665682	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	869					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)											0.285714	162.180338	170.536393	58	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179259071	179259071	11692	2	G	T	T	T	442	34	OSBPL6	2	2
TTN	7273	broad.mit.edu	37	2	179592523	179592523	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179592523C>T	uc010zfg.1	-	c.16050G>A	c.(16048-16050)AAG>AAA	p.K5350K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.K2011K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2375										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.31383	183.099239	188.87524	59	129	KEEP	---	---	---	---	capture		Silent	SNP	179592523	179592523	17290	2	C	T	T	T	311	24	TTN	2	2
FAM171B	165215	broad.mit.edu	37	2	187626258	187626258	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:187626258G>T	uc002ups.2	+	c.1189G>T	c.(1189-1191)GTC>TTC	p.V397F	FAM171B_uc002upr.1_Missense_Mutation_p.V397F|FAM171B_uc002upt.2_5'Flank	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	397	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10														0.292035	284.484798	297.617252	99	240	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187626258	187626258	5697	2	G	T	T	T	572	44	FAM171B	2	2
COL3A1	1281	broad.mit.edu	37	2	189849689	189849689	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189849689G>T	uc002uqj.1	+	c.282_splice	c.e2+1	p.A94_splice		NM_000090	NP_000081			collagen type III alpha 1 preproprotein						axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)					1079				0.328767	75.175076	77.072725	24	49	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	189849689	189849689	3826	2	G	T	T	T	624	48	COL3A1	5	2
COL3A1	1281	broad.mit.edu	37	2	189872628	189872628	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189872628G>A	uc002uqj.1	+	c.3381G>A	c.(3379-3381)CAG>CAA	p.Q1127Q		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1127	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)				p.Q1127H(COV434-Tumor)	1079				0.28125	132.407561	139.287924	45	115	KEEP	---	---	---	---	capture		Silent	SNP	189872628	189872628	3826	2	G	A	A	A	451	35	COL3A1	2	2
COL5A2	1290	broad.mit.edu	37	2	189904126	189904126	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189904126G>A	uc002uqk.2	-	c.3797C>T	c.(3796-3798)CCA>CTA	p.P1266L	COL5A2_uc010frx.2_Missense_Mutation_p.P842L	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1266	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)											0.290323	75.091554	78.752812	27	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189904126	189904126	3835	2	G	A	A	A	611	47	COL5A2	2	2
PUM2	23369	broad.mit.edu	37	2	20482749	20482749	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:20482749C>T	uc002rds.1	-	c.1679G>A	c.(1678-1680)GGT>GAT	p.G560D	PUM2_uc002rdt.1_Missense_Mutation_p.G560D|PUM2_uc002rdr.2_Missense_Mutation_p.G499D|PUM2_uc010yjy.1_Missense_Mutation_p.G560D|PUM2_uc002rdu.1_Missense_Mutation_p.G560D|PUM2_uc010yjz.1_Missense_Mutation_p.G499D	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	560	Ser-rich.				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)													0.221311	64.953372	73.680117	27	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20482749	20482749	13284	2	C	T	T	T	234	18	PUM2	2	2
PTH2R	5746	broad.mit.edu	37	2	209302554	209302554	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209302554C>A	uc010zjb.1	+	c.392C>A	c.(391-393)GCC>GAC	p.A131D	PTH2R_uc002vdb.2_Missense_Mutation_p.A120D	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	120	Extracellular (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)	1				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)										0.080292	0.419931	25.027833	11	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209302554	209302554	13215	2	C	A	A	A	338	26	PTH2R	2	2
APOB	338	broad.mit.edu	37	2	21239499	21239499	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21239499G>T	uc002red.2	-	c.3144C>A	c.(3142-3144)ACC>ACA	p.T1048T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1048					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)									0.141509	25.350528	38.492653	15	91	KEEP	---	---	---	---	capture		Silent	SNP	21239499	21239499	796	2	G	T	T	T	600	47	APOB	2	2
APOB	338	broad.mit.edu	37	2	21245902	21245902	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21245902G>T	uc002red.2	-	c.2617C>A	c.(2617-2619)CTG>ATG	p.L873M		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	873					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)									0.128378	32.320961	52.233521	19	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21245902	21245902	796	2	G	T	T	T	464	36	APOB	2	2
PECR	55825	broad.mit.edu	37	2	216923646	216923646	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:216923646G>A	uc002vft.2	-	c.478C>T	c.(478-480)CCT>TCT	p.P160S	PECR_uc010zjq.1_Intron|PECR_uc002vfr.2_Missense_Mutation_p.P22S|PECR_uc002vfs.2_Missense_Mutation_p.P14S	NM_018441	NP_060911	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	160					fatty acid biosynthetic process|oxidation-reduction process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity				0		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)									0.265487	86.400344	92.014913	30	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216923646	216923646	12138	2	G	A	A	A	559	43	PECR	2	2
PLCD4	84812	broad.mit.edu	37	2	219492945	219492945	+	Silent	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219492945A>T	uc002vij.1	+	c.966A>T	c.(964-966)GGA>GGT	p.G322G	PLCD4_uc002vik.1_Silent_p.G169G|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	322	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)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)										0.078512	1.070078	44.9699	19	223	KEEP	---	---	---	---	capture		Silent	SNP	219492945	219492945	12459	2	A	T	T	T	145	12	PLCD4	3	3
SPEG	10290	broad.mit.edu	37	2	220353298	220353298	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220353298G>T	uc010fwg.2	+	c.7937G>T	c.(7936-7938)CGG>CTG	p.R2646L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2646	Ig-like 9.				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)		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)						482				0.3125	122.105071	126.62316	45	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220353298	220353298	15548	2	G	T	T	T	507	39	SPEG	1	1
CHPF	79586	broad.mit.edu	37	2	220404338	220404338	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220404338C>G	uc002vmc.3	-	c.2095G>C	c.(2095-2097)GAG>CAG	p.E699Q	CHPF_uc010zlh.1_Missense_Mutation_p.E537Q	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	699	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)										0.095238	9.820215	30.524164	12	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220404338	220404338	3502	2	C	G	G	G	416	32	CHPF	3	3
SLC4A3	6508	broad.mit.edu	37	2	220496825	220496825	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220496825G>A	uc002vmo.3	+	c.1028G>A	c.(1027-1029)CGG>CAG	p.R343Q	SLC4A3_uc002vmn.2_Missense_Mutation_p.R343Q|SLC4A3_uc002vmp.3_Missense_Mutation_p.R316Q|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	316	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(1)|breast(1)	2		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.266667	44.060098	47.022197	16	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220496825	220496825	15152	2	G	A	A	A	507	39	SLC4A3	1	1
SCG2	7857	broad.mit.edu	37	2	224463262	224463262	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:224463262C>A	uc002vnm.2	-	c.739G>T	c.(739-741)GGA>TGA	p.G247*		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	247					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)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)										0.252273	269.188527	293.736938	111	329	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	224463262	224463262	14372	2	C	A	A	A	286	22	SCG2	5	2
DNER	92737	broad.mit.edu	37	2	230341871	230341871	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230341871A>G	uc002vpv.2	-	c.1246T>C	c.(1246-1248)TGC>CGC	p.C416R	DNER_uc010zly.1_Missense_Mutation_p.C144R	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	416	Extracellular (Potential).|EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			ovary(1)	1		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)										0.131148	14.256455	22.324944	8	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230341871	230341871	4850	2	A	G	G	G	91	7	DNER	4	4
B3GNT7	93010	broad.mit.edu	37	2	232262811	232262811	+	Silent	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:232262811G>C	uc002vrs.2	+	c.381G>C	c.(379-381)CCG>CCC	p.P127P		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	127	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)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)										0.322581	26.537032	27.404616	10	21	KEEP	---	---	---	---	capture		Silent	SNP	232262811	232262811	1283	2	G	C	C	C	496	39	B3GNT7	3	3
NMUR1	10316	broad.mit.edu	37	2	232393103	232393103	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:232393103C>T	uc002vry.3	-	c.629G>A	c.(628-630)CGG>CAG	p.R210Q		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	210	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)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)										0.351351	39.175915	39.891603	13	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232393103	232393103	10909	2	C	T	T	T	299	23	NMUR1	1	1
RBM44	375316	broad.mit.edu	37	2	238726701	238726701	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238726701C>T	uc002vxi.3	+	c.1142C>T	c.(1141-1143)TCC>TTC	p.S381F		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)		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)										0.254717	70.681729	76.463841	27	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238726701	238726701	13600	2	C	T	T	T	390	30	RBM44	2	2
HDAC4	9759	broad.mit.edu	37	2	240066294	240066294	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:240066294G>A	uc002vyk.3	-	c.850C>T	c.(850-852)CCG>TCG	p.P284S	HDAC4_uc010fyz.1_Missense_Mutation_p.P279S|HDAC4_uc010zoa.1_Missense_Mutation_p.P279S|HDAC4_uc010fza.2_Missense_Mutation_p.P284S|HDAC4_uc010fyy.2_Missense_Mutation_p.P236S|HDAC4_uc010znz.1_Missense_Mutation_p.P167S|HDAC4_uc010fzb.1_Non-coding_Transcript	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	284	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|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)|potassium ion binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription activator activity|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)						606				0.292857	112.315266	117.695862	41	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240066294	240066294	7292	2	G	A	A	A	533	41	HDAC4	2	2
OR6B2	389090	broad.mit.edu	37	2	240969840	240969840	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:240969840C>G	uc002vyr.2	-	c.7G>C	c.(7-9)GGG>CGG	p.G3R	OR6B2_uc010zoc.1_Missense_Mutation_p.G3R	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	3	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)		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)										0.258621	43.397515	46.460116	15	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240969840	240969840	11598	2	C	G	G	G	273	21	OR6B2	3	3
OTOF	9381	broad.mit.edu	37	2	26696880	26696880	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26696880C>A	uc002rhk.2	-	c.3387G>T	c.(3385-3387)GTG>GTT	p.V1129V	OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Silent_p.V382V|OTOF_uc002rhi.2_Silent_p.V439V|OTOF_uc002rhj.2_Silent_p.V382V	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1129	Cytoplasmic (Potential).				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)								0.260274	94.272816	101.88409	38	108	KEEP	---	---	---	---	capture		Silent	SNP	26696880	26696880	11715	2	C	A	A	A	314	25	OTOF	2	2
CIB4	130106	broad.mit.edu	37	2	26818175	26818175	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26818175A>T	uc002rhm.2	-	c.197T>A	c.(196-198)TTC>TAC	p.F66Y		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	66	EF-hand 1.						calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.175824	29.641545	38.662316	16	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26818175	26818175	3557	2	A	T	T	T	117	9	CIB4	3	3
SLC30A3	7781	broad.mit.edu	37	2	27481082	27481082	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27481082C>T	uc002rjk.2	-	c.371G>A	c.(370-372)TGG>TAG	p.W124*	SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Nonsense_Mutation_p.W119*	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	124	Helical; (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.284314	68.094077	72.389894	29	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27481082	27481082	15053	2	C	T	T	T	273	21	SLC30A3	5	2
BRE	9577	broad.mit.edu	37	2	28464261	28464261	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28464261G>T	uc002rls.2	+	c.851_splice	c.e9+1	p.T284_splice	BRE_uc002rlp.1_Splice_Site_SNP_p.T284_splice|BRE_uc002rlq.2_Splice_Site_SNP_p.T284_splice|BRE_uc002rlr.2_Splice_Site_SNP_p.T284_splice|BRE_uc002rlt.2_Splice_Site_SNP_p.T284_splice|BRE_uc002rlu.2_Splice_Site_SNP_p.T284_splice|BRE_uc002rlv.2_Splice_Site_SNP_p.T146_splice	NM_004899	NP_004890			brain and reproductive organ-expressed (TNFRSF1A						apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			lung(1)|kidney(1)	2	Acute lymphoblastic leukemia(172;0.155)													0.138889	28.47039	42.073038	15	93	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	28464261	28464261	1540	2	G	T	T	T	520	40	BRE	5	1
PLB1	151056	broad.mit.edu	37	2	28855858	28855858	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28855858C>A	uc002rmb.1	+	c.4050C>A	c.(4048-4050)TTC>TTA	p.F1350L	PLB1_uc010ezj.1_Missense_Mutation_p.F1339L|PLB1_uc002rme.1_Missense_Mutation_p.F315L|PLB1_uc002rmf.1_Non-coding_Transcript	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1350	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				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)													0.100503	9.241842	40.978529	20	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28855858	28855858	12450	2	C	A	A	A	415	32	PLB1	2	2
PLB1	151056	broad.mit.edu	37	2	28855888	28855888	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28855888C>T	uc002rmb.1	+	c.4080C>T	c.(4078-4080)ATC>ATT	p.I1360I	PLB1_uc010ezj.1_Silent_p.I1349I|PLB1_uc002rme.1_Silent_p.I325I|PLB1_uc002rmf.1_Non-coding_Transcript	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1360	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				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)													0.108108	15.923083	38.42886	16	132	KEEP	---	---	---	---	capture		Silent	SNP	28855888	28855888	12450	2	C	T	T	T	395	31	PLB1	1	1
ALK	238	broad.mit.edu	37	2	29551271	29551271	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29551271C>A	uc002rmy.2	-	c.1359G>T	c.(1357-1359)CAG>CAT	p.Q453H		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	453	LDL-receptor class A.|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				0.144654	36.834747	56.144378	23	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29551271	29551271	528	2	C	A	A	A	311	24	ALK	2	2
NLRC4	58484	broad.mit.edu	37	2	32477681	32477681	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32477681G>T	uc002roi.2	-	c.69C>A	c.(67-69)ATC>ATA	p.I23I	NLRC4_uc002roj.1_Silent_p.I23I|NLRC4_uc010ezt.1_Silent_p.I23I	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN	caspase recruitment domain protein 12	23	LRR 1.|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)													0.285024	150.541228	159.128936	59	148	KEEP	---	---	---	---	capture		Silent	SNP	32477681	32477681	10872	2	G	T	T	T	577	45	NLRC4	2	2
LTBP1	4052	broad.mit.edu	37	2	33359928	33359928	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:33359928G>T	uc002ros.2	+	c.1102G>T	c.(1102-1104)GGC>TGC	p.G368C	LTBP1_uc002rot.2_Missense_Mutation_p.G42C|LTBP1_uc002rou.2_Missense_Mutation_p.G42C|LTBP1_uc002rov.2_Missense_Mutation_p.G42C|LTBP1_uc010ymz.1_Missense_Mutation_p.G42C|LTBP1_uc010yna.1_Missense_Mutation_p.G42C	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	368					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)												0.201754	52.762435	62.183143	23	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33359928	33359928	9449	2	G	T	T	T	559	43	LTBP1	2	2
LRPPRC	10128	broad.mit.edu	37	2	44145419	44145419	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44145419C>G	uc002rtr.2	-	c.3015G>C	c.(3013-3015)CAG>CAC	p.Q1005H	LRPPRC_uc010yob.1_Missense_Mutation_p.Q905H	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	1005					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)												0.254777	113.225883	121.791148	40	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44145419	44145419	9338	2	C	G	G	G	311	24	LRPPRC	3	3
SPTBN1	6711	broad.mit.edu	37	2	54893182	54893182	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54893182G>T	uc002rxu.2	+	c.6790G>T	c.(6790-6792)GTG>TTG	p.V2264L	SPTBN1_uc010you.1_Missense_Mutation_p.V254L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	2264	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			Lung(47;0.24)											0.132716	67.22741	109.883531	43	281	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54893182	54893182	15633	2	G	T	T	T	468	36	SPTBN1	2	2
SERTAD2	9792	broad.mit.edu	37	2	64863699	64863699	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:64863699C>A	uc002sde.1	-	c.307G>T	c.(307-309)GCC>TCC	p.A103S		NM_014755	NP_055570	Q14140	SRTD2_HUMAN	SERTA domain containing 2	103					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus					0														0.125	5.703238	12.239454	6	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64863699	64863699	14609	2	C	A	A	A	338	26	SERTAD2	2	2
ARHGAP25	9938	broad.mit.edu	37	2	69049651	69049651	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69049651C>A	uc010fdg.2	+	c.1380C>A	c.(1378-1380)AGC>AGA	p.S460R	ARHGAP25_uc002seu.2_Missense_Mutation_p.S459R|ARHGAP25_uc010yql.1_Missense_Mutation_p.S420R|ARHGAP25_uc002sew.2_Missense_Mutation_p.S452R|ARHGAP25_uc002sex.2_Missense_Mutation_p.S453R|ARHGAP25_uc002sey.2_Missense_Mutation_p.S186R	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4														0.160714	70.351524	94.897842	36	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69049651	69049651	886	2	C	A	A	A	324	25	ARHGAP25	2	2
C2orf78	388960	broad.mit.edu	37	2	74043181	74043181	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74043181C>A	uc002sjr.1	+	c.1831C>A	c.(1831-1833)CAA>AAA	p.Q611K		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	611	Lys-rich.									ovary(2)	2														0.313725	84.849387	88.007112	32	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74043181	74043181	2285	2	C	A	A	A	377	29	C2orf78	2	2
LRRTM4	80059	broad.mit.edu	37	2	77745831	77745831	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:77745831G>A	uc002snr.2	-	c.1164C>T	c.(1162-1164)ACC>ACT	p.T388T	LRRTM4_uc002snq.2_Silent_p.T388T|LRRTM4_uc002sns.2_Silent_p.T388T|LRRTM4_uc002snt.2_Silent_p.T389T	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	388	Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)										0.212766	49.845101	57.013668	20	74	KEEP	---	---	---	---	capture		Silent	SNP	77745831	77745831	9418	2	G	A	A	A	600	47	LRRTM4	2	2
REG3A	5068	broad.mit.edu	37	2	79384784	79384784	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79384784C>A	uc002sod.1	-	c.374G>T	c.(373-375)AGT>ATT	p.S125I	REG3A_uc002soe.1_Missense_Mutation_p.S125I|REG3A_uc002sof.1_Missense_Mutation_p.S125I	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	125	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding				0														0.252336	143.041761	154.966221	54	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79384784	79384784	13681	2	C	A	A	A	260	20	REG3A	2	2
LRRTM1	347730	broad.mit.edu	37	2	80530120	80530120	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80530120C>A	uc002sok.1	-	c.825G>T	c.(823-825)GTG>GTT	p.V275V	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	275	LRR 8.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)	3														0.252174	76.317618	82.734195	29	86	KEEP	---	---	---	---	capture		Silent	SNP	80530120	80530120	9415	2	C	A	A	A	210	17	LRRTM1	2	2
CTNNA2	1496	broad.mit.edu	37	2	80816575	80816575	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80816575G>T	uc010ysh.1	+	c.2154G>T	c.(2152-2154)ATG>ATT	p.M718I	CTNNA2_uc010yse.1_Missense_Mutation_p.M718I|CTNNA2_uc010ysf.1_Missense_Mutation_p.M718I|CTNNA2_uc010ysg.1_Missense_Mutation_p.M718I|CTNNA2_uc010ysi.1_Missense_Mutation_p.M350I|CTNNA2_uc010ysj.1_Missense_Mutation_p.M47I	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	718					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				0.17037	51.301014	65.246303	23	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80816575	80816575	4172	2	G	T	T	T	624	48	CTNNA2	2	2
KDM3A	55818	broad.mit.edu	37	2	86678331	86678331	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:86678331A>G	uc002sri.3	+	c.448A>G	c.(448-450)ATA>GTA	p.I150V	KDM3A_uc010ytj.1_Missense_Mutation_p.I150V|KDM3A_uc010ytk.1_Missense_Mutation_p.I98V	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	150					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)								0.144578	25.747841	35.834034	12	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86678331	86678331	8432	2	A	G	G	G	208	16	KDM3A	4	4
KDM3A	55818	broad.mit.edu	37	2	86718115	86718115	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:86718115C>T	uc002sri.3	+	c.3685C>T	c.(3685-3687)CAA>TAA	p.Q1229*	KDM3A_uc010ytj.1_Nonsense_Mutation_p.Q1229*|KDM3A_uc010ytk.1_Nonsense_Mutation_p.Q1177*	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	1229	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)								0.132	48.497509	81.39729	33	217	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	86718115	86718115	8432	2	C	T	T	T	377	29	KDM3A	5	2
PROM2	150696	broad.mit.edu	37	2	95945675	95945675	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:95945675G>T	uc002suh.1	+	c.1357G>T	c.(1357-1359)GGC>TGC	p.G453C	PROM2_uc002sui.2_Missense_Mutation_p.G453C|PROM2_uc002suj.2_Missense_Mutation_p.G107C|PROM2_uc002suk.2_Missense_Mutation_p.G453C|PROM2_uc002sul.2_5'UTR|PROM2_uc002sum.2_Non-coding_Transcript	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	453	Cytoplasmic (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1														0.172932	43.175917	56.594207	23	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95945675	95945675	12999	2	G	T	T	T	559	43	PROM2	2	2
ASTL	431705	broad.mit.edu	37	2	96801117	96801117	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96801117G>C	uc010yui.1	-	c.216C>G	c.(214-216)TTC>TTG	p.F72L		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase precursor	72					proteolysis		metalloendopeptidase activity|zinc ion binding				0														0.146341	24.745147	34.605864	12	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96801117	96801117	1082	2	G	C	C	C	529	41	ASTL	3	3
STARD7	56910	broad.mit.edu	37	2	96858109	96858109	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96858109C>G	uc002svm.3	-	c.841G>C	c.(841-843)GAG>CAG	p.E281Q	STARD7_uc002svl.2_Missense_Mutation_p.E59Q	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN	START domain containing 7 precursor	281	START.					mitochondrion					0														0.278261	218.210854	228.377058	64	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96858109	96858109	15781	2	C	G	G	G	377	29	STARD7	3	3
NCAPH	23397	broad.mit.edu	37	2	97008585	97008585	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:97008585A>G	uc002svz.1	+	c.455A>G	c.(454-456)AAA>AGA	p.K152R	NCAPH_uc010fhu.1_Missense_Mutation_p.K128R|NCAPH_uc010fhv.1_Missense_Mutation_p.K141R|NCAPH_uc010yum.1_Missense_Mutation_p.K128R|NCAPH_uc010fhw.1_Missense_Mutation_p.K141R|NCAPH_uc010yun.1_Missense_Mutation_p.K16R|NCAPH_uc002swa.1_Intron	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	152					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)	1		Ovarian(717;0.0221)												0.090909	5.96733	18.957488	7	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97008585	97008585	10608	2	A	G	G	G	13	1	NCAPH	4	4
MRPL30	51263	broad.mit.edu	37	2	99804653	99804653	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99804653G>T	uc002szu.2	+	c.65G>T	c.(64-66)GGT>GTT	p.G22V	MRPL30_uc002szl.1_Non-coding_Transcript|MRPL30_uc002szr.2_Missense_Mutation_p.G22V|MRPL30_uc002szt.1_Intron|MRPL30_uc002szv.2_Missense_Mutation_p.G22V	NM_145213	NP_660214	Q8TCC3	RM30_HUMAN	RecName: Full=39S ribosomal protein L30, mitochondrial;          Short=L30mt; AltName: Full=MRP-L30; AltName: Full=MRP-L28; Flags: Precursor;	22					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1														0.219512	22.155203	25.124655	9	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99804653	99804653	10187	2	G	T	T	T	572	44	MRPL30	2	2
SEC13	6396	broad.mit.edu	37	3	10354321	10354321	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:10354321C>G	uc003bvo.2	-	c.396G>C	c.(394-396)TGG>TGC	p.W132C	SEC13_uc003bvl.2_Missense_Mutation_p.W18C|SEC13_uc003bvm.2_Missense_Mutation_p.W72C|SEC13_uc003bvn.2_Missense_Mutation_p.W86C|SEC13_uc003bvp.2_Missense_Mutation_p.W89C|SEC13_uc003bvq.1_Missense_Mutation_p.W72C|SEC13_uc003bvr.1_Missense_Mutation_p.W72C|SEC13_uc011aul.1_Missense_Mutation_p.W86C	NM_001136232	NP_001129704	P55735	SEC13_HUMAN	SEC13 protein isoform 2	86	WD 2.				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			ovary(1)	1														0.275	210.775042	221.698218	66	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10354321	10354321	14466	3	C	G	G	G	390	30	SEC13	3	3
KIAA1524	57650	broad.mit.edu	37	3	108278693	108278693	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108278693C>A	uc003dxb.3	-	c.1924G>T	c.(1924-1926)GAT>TAT	p.D642Y		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	642	Potential.					cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3														0.223301	52.164313	59.420295	23	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108278693	108278693	8548	3	C	A	A	A	416	32	KIAA1524	2	2
KIAA2018	205717	broad.mit.edu	37	3	113375768	113375768	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113375768G>T	uc003eam.2	-	c.4761C>A	c.(4759-4761)AAC>AAA	p.N1587K	KIAA2018_uc003eal.2_Missense_Mutation_p.N1531K	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1587	Gln-rich.					membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|transcription regulator activity			ovary(1)	1														0.276786	78.770698	83.801023	31	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113375768	113375768	8579	3	G	T	T	T	568	44	KIAA2018	2	2
LSAMP	4045	broad.mit.edu	37	3	115805319	115805319	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:115805319C>A	uc011bis.1	-	c.240G>T	c.(238-240)CTG>CTT	p.L80L	LSAMP_uc003ebt.2_Silent_p.L80L	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	80	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane					0		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)										0.184397	55.664246	68.839749	26	115	KEEP	---	---	---	---	capture		Silent	SNP	115805319	115805319	9424	3	C	A	A	A	262	21	LSAMP	2	2
RABL3	285282	broad.mit.edu	37	3	120417341	120417341	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120417341T>A	uc003edx.2	-	c.463A>T	c.(463-465)ACA>TCA	p.T155S		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	155	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding				0				GBM - Glioblastoma multiforme(114;0.151)										0.247261	405.983165	443.188287	158	481	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120417341	120417341	13431	3	T	A	A	A	780	60	RABL3	3	3
POLQ	10721	broad.mit.edu	37	3	121209249	121209249	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121209249C>A	uc003eee.3	-	c.2529G>T	c.(2527-2529)CGG>CGT	p.R843R	POLQ_uc003eed.2_Silent_p.R15R	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	843					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5				GBM - Glioblastoma multiforme(114;0.0915)		Pancreas(152;907 1925 26081 31236 36904)								0.263415	136.256741	146.633998	54	151	KEEP	---	---	---	---	capture		Silent	SNP	121209249	121209249	12636	3	C	A	A	A	379	30	POLQ	2	2
ADCY5	111	broad.mit.edu	37	3	123046503	123046503	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123046503T>A	uc003egh.1	-	c.1909A>T	c.(1909-1911)ATC>TTC	p.I637F	ADCY5_uc003egg.1_Missense_Mutation_p.I270F|ADCY5_uc003egi.1_Missense_Mutation_p.I196F	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	637	Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)										0.234375	40.210252	44.328944	15	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123046503	123046503	298	3	T	A	A	A	637	49	ADCY5	3	3
ALDH1L1	10840	broad.mit.edu	37	3	125850370	125850370	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:125850370C>A	uc003eim.1	-	c.1480G>T	c.(1480-1482)GAT>TAT	p.D494Y	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.D393Y|ALDH1L1_uc003eio.2_Missense_Mutation_p.D196Y	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	494	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				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)									0.342105	104.97978	107.545163	39	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125850370	125850370	497	3	C	A	A	A	416	32	ALDH1L1	2	2
ALDH1L1	10840	broad.mit.edu	37	3	125872401	125872401	+	Silent	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:125872401C>G	uc003eim.1	-	c.744G>C	c.(742-744)ACG>ACC	p.T248T	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.T147T|ALDH1L1_uc003eio.2_5'UTR|ALDH1L1_uc010hsf.1_Silent_p.T274T|ALDH1L1_uc003eip.1_Silent_p.T155T|ALDH1L1_uc011bkj.1_Silent_p.T73T	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				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)									0.225434	110.359571	122.250754	39	134	KEEP	---	---	---	---	capture		Silent	SNP	125872401	125872401	497	3	C	G	G	G	340	27	ALDH1L1	3	3
CHST13	166012	broad.mit.edu	37	3	126255153	126255153	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:126255153G>C	uc003eja.2	+	c.137G>C	c.(136-138)GGG>GCG	p.G46A		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	carbohydrate sulfotransferase 13	46	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.151)										0.251208	138.9949	150.641232	52	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126255153	126255153	3535	3	G	C	C	C	559	43	CHST13	3	3
RUVBL1	8607	broad.mit.edu	37	3	127842427	127842427	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:127842427C>A	uc003ekh.2	-	c.141G>T	c.(139-141)GAG>GAT	p.E47D	RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Missense_Mutation_p.E47D	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	47					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)										0.269231	36.164195	38.640021	14	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127842427	127842427	14232	3	C	A	A	A	311	24	RUVBL1	2	2
PLXND1	23129	broad.mit.edu	37	3	129279567	129279567	+	Splice_Site_SNP	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:129279567C>G	uc003emx.2	-	c.4994_splice	c.e30-1	p.V1665_splice	PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Splice_Site_SNP_p.V333_splice	NM_015103	NP_055918			plexin D1 precursor						axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						Ovarian(97;366 1484 3738 22084 39045)								0.252336	81.374386	87.333646	27	80	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	129279567	129279567	12553	3	C	G	G	G	260	20	PLXND1	5	3
NPHP3	27031	broad.mit.edu	37	3	132440852	132440852	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:132440852C>T	uc003epe.1	-	c.348G>A	c.(346-348)GAG>GAA	p.E116E	NCRNA00119_uc003epg.1_5'Flank|NPHP3_uc003epf.1_5'UTR|NCRNA00119_uc010htu.1_5'Flank	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	116	Potential.				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														0.24	46.920922	51.543507	18	57	KEEP	---	---	---	---	capture		Silent	SNP	132440852	132440852	10984	3	C	T	T	T	311	24	NPHP3	2	2
SOX14	8403	broad.mit.edu	37	3	137483858	137483858	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:137483858C>A	uc003erm.1	+	c.232C>A	c.(232-234)CGA>AGA	p.R78R		NM_004189	NP_004180	O95416	SOX14_HUMAN	SRY-box 14	78					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|transcription repressor activity				0														0.164179	43.890491	58.221426	22	112	KEEP	---	---	---	---	capture		Silent	SNP	137483858	137483858	15445	3	C	A	A	A	295	23	SOX14	1	1
CNTN6	27255	broad.mit.edu	37	3	1415642	1415642	+	Silent	SNP	A	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:1415642A>C	uc003boz.2	+	c.1980A>C	c.(1978-1980)GCA>GCC	p.A660A	CNTN6_uc011asj.1_Silent_p.A588A|CNTN6_uc003bpa.2_Silent_p.A660A	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	660	Fibronectin type-III 1.				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)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)						1038				0.233645	76.843015	83.773577	25	82	KEEP	---	---	---	---	capture		Silent	SNP	1415642	1415642	3783	3	A	C	C	C	54	5	CNTN6	4	4
PAQR9	344838	broad.mit.edu	37	3	142681802	142681802	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142681802G>T	uc003evg.2	-	c.377C>A	c.(376-378)GCG>GAG	p.A126E	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	126	Helical; (Potential).					integral to membrane	receptor activity				0														0.26087	30.678478	33.060409	12	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142681802	142681802	11859	3	G	T	T	T	494	38	PAQR9	1	1
CHST2	9435	broad.mit.edu	37	3	142840553	142840553	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142840553C>G	uc003evm.2	+	c.895C>G	c.(895-897)CGC>GGC	p.R299G		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	299	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														0.388889	19.420865	19.615426	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142840553	142840553	3538	3	C	G	G	G	299	23	CHST2	3	3
IGSF10	285313	broad.mit.edu	37	3	151164627	151164627	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151164627C>A	uc011bod.1	-	c.3142G>T	c.(3142-3144)GAA>TAA	p.E1048*		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1048					cell differentiation|multicellular organismal development|ossification	extracellular region				ovary(4)|central_nervous_system(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)											0.350427	229.17754	233.796672	82	152	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	151164627	151164627	7898	3	C	A	A	A	377	29	IGSF10	5	2
AADACL2	344752	broad.mit.edu	37	3	151474962	151474962	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151474962G>A	uc003ezc.2	+	c.786G>A	c.(784-786)TGG>TGA	p.W262*	AADACL2_uc010hvn.2_Nonsense_Mutation_p.W49*	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	262						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)											0.272727	209.981144	222.272562	72	192	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	151474962	151474962	12	3	G	A	A	A	559	43	AADACL2	5	2
IFT80	57560	broad.mit.edu	37	3	159998598	159998598	+	Silent	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:159998598T>A	uc011boy.1	-	c.1521A>T	c.(1519-1521)ACA>ACT	p.T507T	IFT80_uc003fda.2_Non-coding_Transcript|IFT80_uc003fdb.1_Silent_p.T370T|IFT80_uc003fdd.1_Silent_p.T190T|IFT80_uc003fde.1_Silent_p.T370T	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	507	WD 7.					cilium axoneme|microtubule basal body					0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)											0.293333	64.822943	67.688851	22	53	KEEP	---	---	---	---	capture		Silent	SNP	159998598	159998598	7865	3	T	A	A	A	808	63	IFT80	3	3
SMC4	10051	broad.mit.edu	37	3	160120494	160120494	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160120494A>T	uc003fdh.2	+	c.349A>T	c.(349-351)AGT>TGT	p.S117C	IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_Non-coding_Transcript|SMC4_uc003fdg.1_Missense_Mutation_p.S117C|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.S92C|SMC4_uc003fdj.2_Missense_Mutation_p.S117C|SMC4_uc010hwd.2_Missense_Mutation_p.S117C|MIR15B_hsa-mir-15b|MI0000438_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	117	ATP (Potential).				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)											0.320513	228.663401	235.349265	75	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160120494	160120494	15283	3	A	T	T	T	91	7	SMC4	3	3
DCUN1D1	54165	broad.mit.edu	37	3	182681763	182681763	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:182681763T>C	uc003fld.1	-	c.295A>G	c.(295-297)AGC>GGC	p.S99G	DCUN1D1_uc011bqn.1_Intron	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	RP42 homolog	99	DCUN1.					ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		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)											0.114094	22.76604	44.646898	17	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182681763	182681763	4484	3	T	C	C	C	715	55	DCUN1D1	4	4
KLHL6	89857	broad.mit.edu	37	3	183209920	183209920	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183209920G>C	uc003flr.2	-	c.1661C>G	c.(1660-1662)GCG>GGG	p.A554G	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	kelch-like 6	554	Kelch 5.									ovary(1)	1	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)											0.218391	51.194158	57.543762	19	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183209920	183209920	8707	3	G	C	C	C	494	38	KLHL6	3	3
EIF4A2	1974	broad.mit.edu	37	3	186505350	186505350	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186505350G>T	uc003fqu.2	+	c.979G>T	c.(979-981)GTT>TTT	p.V327F	EIF4A2_uc003fqs.2_Missense_Mutation_p.V326F|EIF4A2_uc003fqt.2_Non-coding_Transcript|EIF4A2_uc003fqv.2_Missense_Mutation_p.V231F|EIF4A2_uc003fqw.2_Missense_Mutation_p.V231F|EIF4A2_uc011bsb.1_Missense_Mutation_p.V199F|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	326	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)						538				0.309278	267.240673	276.673672	90	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186505350	186505350	5216	3	G	T	T	T	624	48	EIF4A2	2	2
OXSM	54995	broad.mit.edu	37	3	25835674	25835674	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:25835674G>T	uc003cdn.2	+	c.1069G>T	c.(1069-1071)GCT>TCT	p.A357S	OXSM_uc011awp.1_Missense_Mutation_p.A82S|OXSM_uc010hfh.2_Missense_Mutation_p.A274S	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial isoform 1	357					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														0.274074	101.813867	108.022922	37	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25835674	25835674	11748	3	G	T	T	T	598	46	OXSM	2	2
CNTN4	152330	broad.mit.edu	37	3	2908612	2908612	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:2908612C>A	uc003bpc.2	+	c.631C>A	c.(631-633)CCA>ACA	p.P211T	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.P211T	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	211					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)										0.357798	112.589368	114.532761	39	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2908612	2908612	3781	3	C	A	A	A	234	18	CNTN4	2	2
TRANK1	9881	broad.mit.edu	37	3	36872739	36872739	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:36872739C>T	uc003cgj.2	-	c.6553G>A	c.(6553-6555)GGC>AGC	p.G2185S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2735					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2														0.303797	63.080468	65.789136	24	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36872739	36872739	16998	3	C	T	T	T	273	21	TRANK1	2	2
SLC22A13	9390	broad.mit.edu	37	3	38316550	38316550	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38316550G>T	uc003chz.3	+	c.708G>T	c.(706-708)GGG>GGT	p.G236G	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Silent_p.G236G	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion	236	Helical; (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)										0.298246	266.149188	278.575531	102	240	KEEP	---	---	---	---	capture		Silent	SNP	38316550	38316550	14940	3	G	T	T	T	535	42	SLC22A13	2	2
ULK4	54986	broad.mit.edu	37	3	41860964	41860964	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:41860964G>T	uc003ckv.3	-	c.1799C>A	c.(1798-1800)GCT>GAT	p.A600D	ULK4_uc003ckw.2_Missense_Mutation_p.A600D	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	unc-51-like kinase 4	600					protein phosphorylation		ATP binding|protein serine/threonine kinase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.214)						538				0.086705	2.084984	32.040879	15	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41860964	41860964	17536	3	G	T	T	T	442	34	ULK4	2	2
HHATL	57467	broad.mit.edu	37	3	42738369	42738369	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42738369C>A	uc003clw.2	-	c.1011G>T	c.(1009-1011)ACG>ACT	p.T337T	HHATL_uc003clx.2_Silent_p.T337T	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	337					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)										0.25	29.274808	32.005054	12	36	KEEP	---	---	---	---	capture		Silent	SNP	42738369	42738369	7374	3	C	A	A	A	327	26	HHATL	2	2
TGM4	7047	broad.mit.edu	37	3	44951851	44951851	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44951851C>A	uc003coc.3	+	c.1597C>A	c.(1597-1599)CAA>AAA	p.Q533K		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	533					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)									0.361446	87.52334	88.927387	30	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44951851	44951851	16360	3	C	A	A	A	273	21	TGM4	2	2
FYCO1	79443	broad.mit.edu	37	3	46021226	46021226	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:46021226C>A	uc011bal.1	-	c.259G>T	c.(259-261)GGG>TGG	p.G87W	FYCO1_uc003cpb.3_Missense_Mutation_p.G87W	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	87	RUN.				transport	integral to membrane	protein binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)										0.32093	195.192625	201.320145	69	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46021226	46021226	6376	3	C	A	A	A	273	21	FYCO1	2	2
RASSF1	11186	broad.mit.edu	37	3	50368057	50368057	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50368057G>A	uc003dad.1	-	c.990C>T	c.(988-990)TGC>TGT	p.C330C	TUSC2_uc003czy.1_5'Flank|TUSC2_uc003czz.1_5'Flank|RASSF1_uc003daa.1_Silent_p.C175C|RASSF1_uc003dab.1_Silent_p.C256C|RASSF1_uc003dac.2_Silent_p.C175C|RASSF1_uc003dae.1_Silent_p.C326C|RASSF1_uc010hlk.1_Non-coding_Transcript|RASSF1_uc003daf.1_Silent_p.C175C	NM_170714	NP_733832	Q9NS23	RASF1_HUMAN	Ras association domain family 1 isoform D	330	SARAH.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)										0.257732	127.158762	137.479029	50	144	KEEP	---	---	---	---	capture		Silent	SNP	50368057	50368057	13545	3	G	A	A	A	542	42	RASSF1	2	2
ITIH1	3697	broad.mit.edu	37	3	52818397	52818397	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52818397C>T	uc003dfs.2	+	c.1311C>T	c.(1309-1311)CAC>CAT	p.H437H	ITIH1_uc010hmn.1_Non-coding_Transcript|ITIH1_uc003dft.2_Silent_p.H38H|ITIH1_uc010hmo.1_5'UTR	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	437	Hyaluronan-binding.|VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				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)										0.324074	89.885163	92.853396	35	73	KEEP	---	---	---	---	capture		Silent	SNP	52818397	52818397	8207	3	C	T	T	T	220	17	ITIH1	2	2
CADPS	8618	broad.mit.edu	37	3	62636588	62636588	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:62636588G>C	uc003dll.2	-	c.1137C>G	c.(1135-1137)ATC>ATG	p.I379M	CADPS_uc003dlm.2_Missense_Mutation_p.I379M|CADPS_uc003dln.2_Missense_Mutation_p.I379M	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	379					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)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)										0.18408	98.162484	116.975374	37	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62636588	62636588	2686	3	G	C	C	C	473	37	CADPS	3	3
CADPS	8618	broad.mit.edu	37	3	62751567	62751567	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:62751567G>T	uc003dll.2	-	c.534C>A	c.(532-534)AAC>AAA	p.N178K	CADPS_uc003dlm.2_Missense_Mutation_p.N178K|CADPS_uc003dln.2_Missense_Mutation_p.N178K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	178					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)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)										0.1875	127.09356	151.940409	51	221	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62751567	62751567	2686	3	G	T	T	T	516	40	CADPS	1	1
PDZRN3	23024	broad.mit.edu	37	3	73432850	73432850	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:73432850C>A	uc003dpl.1	-	c.2867G>T	c.(2866-2868)GGC>GTC	p.G956V	PDZRN3_uc011bgh.1_Missense_Mutation_p.G613V|PDZRN3_uc010hoe.1_Missense_Mutation_p.G654V|PDZRN3_uc011bgf.1_Missense_Mutation_p.G673V|PDZRN3_uc011bgg.1_Missense_Mutation_p.G676V	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	956							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)		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)										0.302752	80.336031	84.121291	33	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73432850	73432850	12130	3	C	A	A	A	338	26	PDZRN3	2	2
PDZRN3	23024	broad.mit.edu	37	3	73432940	73432940	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:73432940C>G	uc003dpl.1	-	c.2777G>C	c.(2776-2778)CGC>CCC	p.R926P	PDZRN3_uc011bgh.1_Missense_Mutation_p.R583P|PDZRN3_uc010hoe.1_Missense_Mutation_p.R624P|PDZRN3_uc011bgf.1_Missense_Mutation_p.R643P|PDZRN3_uc011bgg.1_Missense_Mutation_p.R646P	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	926							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)		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)										0.144578	25.644673	35.734171	12	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73432940	73432940	12130	3	C	G	G	G	351	27	PDZRN3	3	3
EPHA6	285220	broad.mit.edu	37	3	96706434	96706434	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:96706434C>A	uc010how.1	+	c.711C>A	c.(709-711)AAC>AAA	p.N237K	EPHA6_uc003drp.1_Missense_Mutation_p.N237K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	142	Ephrin-binding.|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				0.218679	247.021384	279.000922	96	343	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96706434	96706434	5364	3	C	A	A	A	233	18	EPHA6	2	2
OR5K3	403277	broad.mit.edu	37	3	98110266	98110266	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98110266C>A	uc011bgw.1	+	c.757C>A	c.(757-759)CTT>ATT	p.L253I		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.169725	71.432654	93.942656	37	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98110266	98110266	11578	3	C	A	A	A	312	24	OR5K3	2	2
OR5K1	26339	broad.mit.edu	37	3	98188534	98188534	+	Silent	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98188534C>G	uc003dsm.2	+	c.114C>G	c.(112-114)ACC>ACG	p.T38T		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.238095	256.431093	284.091687	105	336	KEEP	---	---	---	---	capture		Silent	SNP	98188534	98188534	11576	3	C	G	G	G	288	23	OR5K1	3	3
AGXT2L1	64850	broad.mit.edu	37	4	109670480	109670480	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:109670480C>T	uc003hzc.2	-	c.841G>A	c.(841-843)GGC>AGC	p.G281S	AGXT2L1_uc010imc.2_Missense_Mutation_p.G275S|AGXT2L1_uc011cfm.1_Missense_Mutation_p.G241S|AGXT2L1_uc011cfn.1_Missense_Mutation_p.G208S|AGXT2L1_uc011cfo.1_Missense_Mutation_p.G223S	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	281					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)										0.245902	165.348113	179.646064	60	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109670480	109670480	409	4	C	T	T	T	286	22	AGXT2L1	2	2
NDST4	64579	broad.mit.edu	37	4	115773883	115773883	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115773883G>C	uc003ibu.2	-	c.1814C>G	c.(1813-1815)ACA>AGA	p.T605R	NDST4_uc010imw.2_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	605	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.|PAPS (By similarity).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)										0.263158	61.761119	65.62007	20	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115773883	115773883	10657	4	G	C	C	C	624	48	NDST4	3	3
TRAM1L1	133022	broad.mit.edu	37	4	118006108	118006108	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:118006108C>A	uc003ibv.3	-	c.442G>T	c.(442-444)GAC>TAC	p.D148Y		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like	148	Lumenal (Potential).|TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)	1														0.256684	123.30669	133.347539	48	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118006108	118006108	16996	4	C	A	A	A	416	32	TRAM1L1	2	2
NDST3	9348	broad.mit.edu	37	4	119158234	119158234	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:119158234C>A	uc003ibx.2	+	c.1977C>A	c.(1975-1977)GTC>GTA	p.V659V	NDST3_uc011cgf.1_3'UTR	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	659	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1														0.235849	58.520119	65.284139	25	81	KEEP	---	---	---	---	capture		Silent	SNP	119158234	119158234	10656	4	C	A	A	A	366	29	NDST3	2	2
SYNPO2	171024	broad.mit.edu	37	4	119948371	119948371	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:119948371C>T	uc010inb.2	+	c.847C>T	c.(847-849)CGG>TGG	p.R283W	SYNPO2_uc010ina.2_Missense_Mutation_p.R283W|SYNPO2_uc003icm.3_Missense_Mutation_p.R283W|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.R211W	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform a	283						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2														0.295455	108.538602	113.442047	39	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119948371	119948371	15978	4	C	T	T	T	295	23	SYNPO2	1	1
SYNPO2	171024	broad.mit.edu	37	4	119951975	119951975	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:119951975G>T	uc010inb.2	+	c.2045G>T	c.(2044-2046)GGA>GTA	p.G682V	SYNPO2_uc010ina.2_Missense_Mutation_p.G682V|SYNPO2_uc003icm.3_Missense_Mutation_p.G682V|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.G610V	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform a	682						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2														0.126126	17.965793	33.117849	14	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119951975	119951975	15978	4	G	T	T	T	533	41	SYNPO2	2	2
PRDM5	11107	broad.mit.edu	37	4	121631535	121631535	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:121631535C>T	uc003idn.2	-	c.1657G>A	c.(1657-1659)GCC>ACC	p.A553T	PRDM5_uc003ido.2_Missense_Mutation_p.A522T|PRDM5_uc010ine.2_Missense_Mutation_p.G493D	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	553	C2H2-type 14.				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														0.262411	96.340253	103.522288	37	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121631535	121631535	12902	4	C	T	T	T	338	26	PRDM5	2	2
KIAA1109	84162	broad.mit.edu	37	4	123260563	123260563	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:123260563G>T	uc003ieh.2	+	c.12352G>T	c.(12352-12354)GGT>TGT	p.G4118C	KIAA1109_uc003iem.2_Missense_Mutation_p.G474C|KIAA1109_uc003ien.2_Missense_Mutation_p.G52C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4118	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(7)|central_nervous_system(1)|pancreas(1)	9														0.207407	68.026833	78.732816	28	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123260563	123260563	8516	4	G	T	T	T	455	35	KIAA1109	2	2
INTU	27152	broad.mit.edu	37	4	128632153	128632153	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:128632153G>T	uc003ifk.1	+	c.2455G>T	c.(2455-2457)GAG>TAG	p.E819*	INTU_uc011cgq.1_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	PDZ domain containing 6	819										ovary(1)	1														0.263473	104.887072	113.368798	44	123	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	128632153	128632153	8087	4	G	T	T	T	429	33	INTU	5	2
PCDH10	57575	broad.mit.edu	37	4	134084177	134084177	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:134084177G>T	uc003iha.2	+	c.2843G>T	c.(2842-2844)GGC>GTC	p.G948V		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	948	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.210526	71.90636	83.700577	32	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134084177	134084177	11927	4	G	T	T	T	546	42	PCDH10	2	2
BOD1L	259282	broad.mit.edu	37	4	13605956	13605956	+	Silent	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:13605956A>G	uc003gmz.1	-	c.2568T>C	c.(2566-2568)GGT>GGC	p.G856G	BOD1L_uc010idr.1_Silent_p.G193G	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	856	Lys-rich.						DNA binding			ovary(5)|breast(1)	6														0.108696	15.587898	29.539602	10	82	KEEP	---	---	---	---	capture		Silent	SNP	13605956	13605956	1508	4	A	G	G	G	15	2	BOD1L	4	4
ELF2	1998	broad.mit.edu	37	4	139988852	139988852	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:139988852G>C	uc003ihp.1	-	c.563C>G	c.(562-564)CCA>CGA	p.P188R	ELF2_uc003ihm.1_Missense_Mutation_p.P140R|ELF2_uc003ihn.1_Missense_Mutation_p.P128R|ELF2_uc003iho.1_Intron|ELF2_uc010ioh.2_Missense_Mutation_p.P128R	NM_201999	NP_973728	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription	200					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)													0.130252	53.14629	84.813024	31	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139988852	139988852	5245	4	G	C	C	C	611	47	ELF2	3	3
SLC10A7	84068	broad.mit.edu	37	4	147425062	147425062	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:147425062C>A	uc010ioz.2	-	c.335G>T	c.(334-336)GGT>GTT	p.G112V	SLC10A7_uc003ikr.2_Missense_Mutation_p.G112V|SLC10A7_uc010ipa.2_Missense_Mutation_p.G112V|SLC10A7_uc003iks.2_Non-coding_Transcript|SLC10A7_uc003ikt.2_Missense_Mutation_p.G112V	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	solute carrier family 10 (sodium/bile acid	112						integral to membrane	bile acid:sodium symporter activity				0	all_hematologic(180;0.151)													0.25	57.845417	63.307509	24	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147425062	147425062	14874	4	C	A	A	A	234	18	SLC10A7	2	2
TIGD4	201798	broad.mit.edu	37	4	153691700	153691700	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:153691700C>A	uc003imy.2	-	c.457G>T	c.(457-459)GGT>TGT	p.G153C		NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	153						chromosome, centromeric region|nucleus	chromatin binding|DNA binding			ovary(1)	1	all_hematologic(180;0.093)													0.228758	85.556545	95.873266	35	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153691700	153691700	16427	4	C	A	A	A	312	24	TIGD4	2	2
ARFIP1	27236	broad.mit.edu	37	4	153802270	153802270	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:153802270G>T	uc003imz.2	+	c.567G>T	c.(565-567)ATG>ATT	p.M189I	ARFIP1_uc003inb.2_Missense_Mutation_p.M157I|ARFIP1_uc003ina.2_Missense_Mutation_p.M157I|ARFIP1_uc003inc.2_Missense_Mutation_p.M189I|ARFIP1_uc011cij.1_Intron	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	189	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane				ovary(1)	1	all_hematologic(180;0.093)													0.182692	80.523026	100.191249	38	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153802270	153802270	865	4	G	T	T	T	611	47	ARFIP1	2	2
FHDC1	85462	broad.mit.edu	37	4	153889217	153889217	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:153889217G>A	uc003inf.2	+	c.1186G>A	c.(1186-1188)GAA>AAA	p.E396K		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	396	FH2.				actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)													0.236162	152.054545	169.420304	64	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153889217	153889217	6114	4	G	A	A	A	585	45	FHDC1	2	2
DCHS2	54798	broad.mit.edu	37	4	155298498	155298498	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155298498G>T	uc003inw.2	-	c.333C>A	c.(331-333)ATC>ATA	p.I111I	DCHS2_uc003inx.2_Silent_p.I717I	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	111	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.192771	68.597048	83.235039	32	134	KEEP	---	---	---	---	capture		Silent	SNP	155298498	155298498	4459	4	G	T	T	T	473	37	DCHS2	1	1
FGB	2244	broad.mit.edu	37	4	155490753	155490753	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155490753G>A	uc003ioa.3	+	c.1046G>A	c.(1045-1047)GGA>GAA	p.G349E	FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.G287E|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.G130E	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	349	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|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)	2	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	NSCLC(106;1133 1613 21870 46110 52656)								0.099476	15.277382	45.904492	19	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155490753	155490753	6068	4	G	A	A	A	533	41	FGB	2	2
LRAT	9227	broad.mit.edu	37	4	155670250	155670250	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155670250G>T	uc003iom.1	+	c.655G>T	c.(655-657)GCA>TCA	p.A219S	LRAT_uc003ion.1_Missense_Mutation_p.A219S	NM_004744	NP_004735	O95237	LRAT_HUMAN	lecithin retinol acyltransferase	219	Lumenal (By similarity).				response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)	1	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)									0.204128	211.024202	246.450191	89	347	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155670250	155670250	9303	4	G	T	T	T	598	46	LRAT	2	2
NPY2R	4887	broad.mit.edu	37	4	156135962	156135962	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:156135962G>T	uc003ioq.2	+	c.871G>T	c.(871-873)GTT>TTT	p.V291F	NPY2R_uc003ior.2_Missense_Mutation_p.V291F	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	291	Extracellular (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)												0.258427	66.588015	71.290321	23	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156135962	156135962	11014	4	G	T	T	T	520	40	NPY2R	1	1
RAPGEF2	9693	broad.mit.edu	37	4	160273941	160273941	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:160273941G>T	uc003iqg.3	+	c.3487G>T	c.(3487-3489)GTG>TTG	p.V1163L		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1163	Ser-rich.				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)			COAD - Colon adenocarcinoma(41;0.0817)						322				0.210811	94.418267	108.737902	39	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160273941	160273941	13504	4	G	T	T	T	468	36	RAPGEF2	2	2
TKTL2	84076	broad.mit.edu	37	4	164393898	164393898	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164393898G>T	uc003iqp.3	-	c.989C>A	c.(988-990)GCT>GAT	p.A330D		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	330						cytoplasm	metal ion binding|transketolase activity			ovary(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.231405	203.085498	227.103454	84	279	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164393898	164393898	16465	4	G	T	T	T	442	34	TKTL2	2	2
ANP32C	23520	broad.mit.edu	37	4	165118379	165118379	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:165118379C>A	uc011cjk.1	-	c.485G>T	c.(484-486)GGC>GTC	p.G162V	MARCH1_uc003iqs.1_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	acidic nuclear phosphoprotein 32C	162	Asp/Glu-rich (highly acidic).										0	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)										0.172414	39.019033	50.796327	20	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165118379	165118379	715	4	C	A	A	A	338	26	ANP32C	2	2
TLL1	7092	broad.mit.edu	37	4	166981296	166981296	+	Nonsense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:166981296A>T	uc011cjn.1	+	c.2032A>T	c.(2032-2034)AGA>TGA	p.R678*	TLL1_uc003irh.1_Nonsense_Mutation_p.R655*|TLL1_uc011cjo.1_Nonsense_Mutation_p.R479*	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	655	CUB 3.				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)		GBM - Glioblastoma multiforme(119;0.103)										0.295455	151.228859	157.817272	52	124	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	166981296	166981296	16475	4	A	T	T	T	88	7	TLL1	5	3
ACSL1	2180	broad.mit.edu	37	4	185697670	185697670	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:185697670C>A	uc003iww.2	-	c.724G>T	c.(724-726)GGG>TGG	p.G242W	ACSL1_uc011ckm.1_Missense_Mutation_p.G71W|ACSL1_uc003iwt.1_Missense_Mutation_p.G242W|ACSL1_uc003iwu.1_Missense_Mutation_p.G242W|ACSL1_uc011ckn.1_Missense_Mutation_p.G208W|ACSL1_uc003iwv.1_Missense_Mutation_p.G242W|ACSL1_uc010ise.1_5'Flank	NM_001995	NP_001986	P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	242	Cytoplasmic (Potential).				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			ovary(2)	2		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.171296	67.388048	89.426823	37	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185697670	185697670	178	4	C	A	A	A	273	21	ACSL1	2	2
TRIML1	339976	broad.mit.edu	37	4	189068505	189068505	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189068505C>A	uc003izm.1	+	c.1386C>A	c.(1384-1386)TGC>TGA	p.C462*	TRIML1_uc003izn.1_Nonsense_Mutation_p.C186*	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	462	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)		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)		Melanoma(31;213 1036 16579 23968 32372)								0.161972	37.486966	52.885332	23	119	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	189068505	189068505	17100	4	C	A	A	A	363	28	TRIML1	5	2
TUBB4Q	56604	broad.mit.edu	37	4	190904302	190904302	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:190904302G>T	uc011clg.1	-	c.678C>A	c.(676-678)CAC>CAA	p.H226Q		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	227					'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)		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)										0.311688	65.56641	68.000921	24	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190904302	190904302	17314	4	G	T	T	T	568	44	TUBB4Q	2	2
LGI2	55203	broad.mit.edu	37	4	25014018	25014018	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:25014018G>A	uc003grf.2	-	c.759C>T	c.(757-759)AAC>AAT	p.N253N		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	253	EAR 1.					extracellular region					0		Breast(46;0.173)												0.167832	94.814627	124.720837	48	238	KEEP	---	---	---	---	capture		Silent	SNP	25014018	25014018	9078	4	G	A	A	A	464	36	LGI2	2	2
UGDH	7358	broad.mit.edu	37	4	39515801	39515801	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39515801C>A	uc003guk.1	-	c.166G>T	c.(166-168)GGA>TGA	p.G56*	UGDH_uc011byp.1_De_novo_Start_OutOfFrame|UGDH_uc003gul.1_Nonsense_Mutation_p.G56*	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	56					glycosaminoglycan biosynthetic process|oxidation-reduction process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3					NADH(DB00157)									0.145	49.531343	73.789911	29	171	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	39515801	39515801	17498	4	C	A	A	A	312	24	UGDH	5	2
RBM47	54502	broad.mit.edu	37	4	40440430	40440430	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:40440430T>A	uc003gvc.2	-	c.481A>T	c.(481-483)ATG>TTG	p.M161L	RBM47_uc003gvd.2_Missense_Mutation_p.M161L|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.M123L|RBM47_uc003gvg.1_Missense_Mutation_p.M161L	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	161	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(3)	3														0.293103	90.001303	94.449944	34	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40440430	40440430	13603	4	T	A	A	A	650	50	RBM47	3	3
PHOX2B	8929	broad.mit.edu	37	4	41750472	41750472	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:41750472C>A	uc003gwf.3	-	c.156G>T	c.(154-156)GGG>GGT	p.G52G		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	52					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription regulator activity			autonomic_ganglia(7)|ovary(2)|lung(1)|central_nervous_system(1)	11										56				0.107143	5.959875	18.790918	9	75	KEEP	---	---	---	---	capture		Silent	SNP	41750472	41750472	12283	4	C	A	A	A	275	22	PHOX2B	2	2
GABRB1	2560	broad.mit.edu	37	4	47427876	47427876	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47427876G>T	uc003gxh.2	+	c.1266G>T	c.(1264-1266)GGG>GGT	p.G422G	GABRB1_uc011bze.1_Silent_p.G352G	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	422	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.244048	93.931147	103.937867	41	127	KEEP	---	---	---	---	capture		Silent	SNP	47427876	47427876	6417	4	G	T	T	T	548	43	GABRB1	2	2
TXK	7294	broad.mit.edu	37	4	48114498	48114498	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48114498C>T	uc003gxx.3	-	c.206G>A	c.(205-207)CGA>CAA	p.R69Q	TXK_uc003gxy.1_Missense_Mutation_p.R69Q	NM_003328	NP_003319	P42681	TXK_HUMAN	TXK tyrosine kinase	69	Nuclear localization signal (Potential).				protein phosphorylation	cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0										451				0.067729	-10.616001	37.923374	17	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48114498	48114498	17342	4	C	T	T	T	403	31	TXK	1	1
KIAA1211	57482	broad.mit.edu	37	4	57182405	57182405	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57182405G>T	uc003hbk.2	+	c.2737G>T	c.(2737-2739)GCC>TCC	p.A913S	KIAA1211_uc010iha.2_Missense_Mutation_p.A906S|KIAA1211_uc011bzz.1_Missense_Mutation_p.A823S|KIAA1211_uc003hbm.1_Missense_Mutation_p.A799S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	913										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.216867	36.697853	42.843441	18	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57182405	57182405	8523	4	G	T	T	T	442	34	KIAA1211	2	2
EPHA5	2044	broad.mit.edu	37	4	66230783	66230783	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:66230783G>T	uc011cah.1	-	c.2191C>A	c.(2191-2193)CAG>AAG	p.Q731K	EPHA5_uc003hcx.2_Missense_Mutation_p.Q662K|EPHA5_uc003hcy.2_Missense_Mutation_p.Q730K|EPHA5_uc003hcz.2_Missense_Mutation_p.Q708K|EPHA5_uc011cai.1_Missense_Mutation_p.Q709K|EPHA5_uc003hda.2_Missense_Mutation_p.Q731K	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	730	Cytoplasmic (Potential).|Protein kinase.				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)			0.194175	145.225612	172.182678	60	249	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66230783	66230783	5363	4	G	T	T	T	624	48	EPHA5	2	2
CNO	55330	broad.mit.edu	37	4	6718442	6718442	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:6718442C>T	uc003gjp.1	+	c.506C>T	c.(505-507)GCG>GTG	p.A169V		NM_018366	NP_060836	Q9NUP1	CNO_HUMAN	cappuccino	169					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol					0				Colorectal(103;0.0523)										0.142857	15.033483	23.613629	10	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6718442	6718442	3754	4	C	T	T	T	351	27	CNO	1	1
STAP1	26228	broad.mit.edu	37	4	68436840	68436840	+	Silent	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:68436840T>A	uc003hde.3	+	c.159T>A	c.(157-159)ACT>ACA	p.T53T	STAP1_uc003hdf.2_Silent_p.T53T	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	53	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm					0														0.22335	202.889807	230.635839	88	306	KEEP	---	---	---	---	capture		Silent	SNP	68436840	68436840	15771	4	T	A	A	A	691	54	STAP1	3	3
UGT2A3	79799	broad.mit.edu	37	4	69811061	69811061	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:69811061C>T	uc003hef.2	-	c.827G>A	c.(826-828)GGA>GAA	p.G276E	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family,	276	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(1)	1														0.202899	66.235961	77.537169	28	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69811061	69811061	17513	4	C	T	T	T	390	30	UGT2A3	2	2
UGT2A1	10941	broad.mit.edu	37	4	70513291	70513291	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70513291C>A	uc011caq.1	-	c.72G>T	c.(70-72)TTG>TTT	p.L24F	UGT2A1_uc010ihu.2_Missense_Mutation_p.L24F|UGT2A1_uc003hem.3_Missense_Mutation_p.L24F|UGT2A1_uc010iht.2_Missense_Mutation_p.L24F	NM_001105677	NP_001099147	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	24	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1														0.144231	24.949565	37.626687	15	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70513291	70513291	17511	4	C	A	A	A	376	29	UGT2A1	2	2
CSN3	1448	broad.mit.edu	37	4	71114727	71114727	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71114727G>C	uc003hfe.3	+	c.100G>C	c.(100-102)GAT>CAT	p.D34H		NM_005212	NP_005203	P07498	CASK_HUMAN	casein kappa precursor	34						extracellular region	protein binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.175	72.595526	88.538559	28	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71114727	71114727	4090	4	G	C	C	C	585	45	CSN3	3	3
C4orf22	255119	broad.mit.edu	37	4	81866088	81866088	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:81866088C>A	uc010ijp.2	+	c.652C>A	c.(652-654)CCA>ACA	p.P218T	C4orf22_uc003hmf.2_Missense_Mutation_p.P201T	NM_152770	NP_689983	Q6V702	CD022_HUMAN	hypothetical protein LOC255119	201											0														0.169935	51.247314	67.024859	26	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81866088	81866088	2350	4	C	A	A	A	286	22	C4orf22	2	2
SEC31A	22872	broad.mit.edu	37	4	83740390	83740390	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:83740390G>T	uc003hnf.2	-	c.3500C>A	c.(3499-3501)ACC>AAC	p.T1167N	SEC31A_uc003hnd.2_Missense_Mutation_p.T336N|SEC31A_uc003hne.2_Missense_Mutation_p.T916N|SEC31A_uc011ccl.1_Missense_Mutation_p.T1113N|SEC31A_uc003hnl.2_Missense_Mutation_p.T1014N|SEC31A_uc003hng.2_Missense_Mutation_p.T1152N|SEC31A_uc003hnh.2_Missense_Mutation_p.T1167N|SEC31A_uc003hni.2_Missense_Mutation_p.T1053N|SEC31A_uc003hnj.2_Missense_Mutation_p.T1128N|SEC31A_uc011ccm.1_Missense_Mutation_p.T1147N|SEC31A_uc011ccn.1_Missense_Mutation_p.T1152N|SEC31A_uc003hnk.2_Missense_Mutation_p.T1128N|SEC31A_uc003hnm.2_Missense_Mutation_p.T1167N	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	1167					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)												0.196581	55.768716	65.796937	23	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83740390	83740390	14484	4	G	T	T	T	572	44	SEC31A	2	2
MEPE	56955	broad.mit.edu	37	4	88767150	88767150	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88767150C>A	uc003hqy.2	+	c.1130C>A	c.(1129-1131)GCA>GAA	p.A377E	MEPE_uc010ikn.2_Missense_Mutation_p.A264E	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	377					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)										0.184466	39.960244	49.585112	19	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88767150	88767150	9867	4	C	A	A	A	325	25	MEPE	2	2
MEPE	56955	broad.mit.edu	37	4	88767161	88767161	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88767161G>C	uc003hqy.2	+	c.1141G>C	c.(1141-1143)GAG>CAG	p.E381Q	MEPE_uc010ikn.2_Missense_Mutation_p.E268Q	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	381					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)	2		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)										0.190909	57.425925	67.234229	21	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88767161	88767161	9867	4	G	C	C	C	429	33	MEPE	3	3
GAK	2580	broad.mit.edu	37	4	905514	905514	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:905514T>A	uc003gbm.3	-	c.329A>T	c.(328-330)GAG>GTG	p.E110V	GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_Non-coding_Transcript|GAK_uc003gbl.3_5'UTR	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	110	Protein kinase.				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				Colorectal(103;0.219)						679				0.074074	-4.071103	36.176766	16	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	905514	905514	6459	4	T	A	A	A	702	54	GAK	3	3
SMARCAD1	56916	broad.mit.edu	37	4	95210624	95210624	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:95210624G>T	uc003htb.3	+	c.3026G>T	c.(3025-3027)GGT>GTT	p.G1009V	SMARCAD1_uc003htc.3_Missense_Mutation_p.G1007V|SMARCAD1_uc003htd.3_Missense_Mutation_p.G1009V|SMARCAD1_uc010ila.2_Missense_Mutation_p.G872V|SMARCAD1_uc011cdw.1_Missense_Mutation_p.G577V	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	1007	DEGD box.|Helicase C-terminal.				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				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)										0.142857	74.552573	114.957712	47	282	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95210624	95210624	15270	4	G	T	T	T	572	44	SMARCAD1	2	2
C4orf37	285555	broad.mit.edu	37	4	98480220	98480220	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:98480220C>T	uc003htt.1	-	c.1369G>A	c.(1369-1371)GAT>AAT	p.D457N		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	457											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)										0.167785	48.972396	64.562607	25	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98480220	98480220	2362	4	C	T	T	T	377	29	C4orf37	2	2
MAN2A1	4124	broad.mit.edu	37	5	109117174	109117174	+	Silent	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:109117174G>C	uc003kou.1	+	c.1452G>C	c.(1450-1452)TCG>TCC	p.S484S		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	484	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)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)										0.217742	75.658402	84.764478	27	97	KEEP	---	---	---	---	capture		Silent	SNP	109117174	109117174	9597	5	G	C	C	C	470	37	MAN2A1	3	3
WDR36	134430	broad.mit.edu	37	5	110446486	110446486	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:110446486G>T	uc003kpd.2	+	c.1610_splice	c.e14-1	p.A537_splice	WDR36_uc010jbu.2_Splice_Site_SNP	NM_139281	NP_644810			WD repeat domain 36						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)		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)										0.31746	53.173696	55.04219	20	43	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	110446486	110446486	17863	5	G	T	T	T	442	34	WDR36	5	2
CAMK4	814	broad.mit.edu	37	5	110730473	110730473	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:110730473C>A	uc011cvj.1	+	c.452C>A	c.(451-453)GCA>GAA	p.A151E	CAMK4_uc003kpf.2_Missense_Mutation_p.A151E|CAMK4_uc010jbv.2_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	151	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|protein phosphorylation|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)						687				0.183333	48.473451	59.771201	22	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110730473	110730473	2722	5	C	A	A	A	325	25	CAMK4	2	2
CTNND2	1501	broad.mit.edu	37	5	11346694	11346694	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11346694C>A	uc003jfa.1	-	c.1418G>T	c.(1417-1419)GGC>GTC	p.G473V	CTNND2_uc010itt.2_Missense_Mutation_p.G382V|CTNND2_uc011cmy.1_Missense_Mutation_p.G136V|CTNND2_uc011cmz.1_Missense_Mutation_p.G40V|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G40V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	473					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.259843	82.115931	88.750037	33	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11346694	11346694	4179	5	C	A	A	A	338	26	CTNND2	2	2
PRR16	51334	broad.mit.edu	37	5	120022158	120022158	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:120022158G>T	uc003ksq.2	+	c.669G>T	c.(667-669)CGG>CGT	p.R223R	PRR16_uc003ksp.2_Silent_p.R200R|PRR16_uc003ksr.2_Silent_p.R153R	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	223	Pro-rich.									pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	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)										0.282051	93.128738	98.120113	33	84	KEEP	---	---	---	---	capture		Silent	SNP	120022158	120022158	13032	5	G	T	T	T	561	44	PRR16	2	2
SLC6A19	340024	broad.mit.edu	37	5	1212589	1212589	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1212589C>T	uc003jbw.3	+	c.653C>T	c.(652-654)ACC>ATC	p.T218I		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	218	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)											0.175115	75.182377	96.750555	38	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1212589	1212589	15179	5	C	T	T	T	234	18	SLC6A19	2	2
SLC6A19	340024	broad.mit.edu	37	5	1213592	1213592	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1213592C>A	uc003jbw.3	+	c.678C>A	c.(676-678)ACC>ACA	p.T226T		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	226	Helical; Name=5; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)											0.237288	69.940876	77.383122	28	90	KEEP	---	---	---	---	capture		Silent	SNP	1213592	1213592	15179	5	C	A	A	A	301	24	SLC6A19	2	2
ISOC1	51015	broad.mit.edu	37	5	128440942	128440942	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:128440942G>A	uc003kva.2	+	c.494G>A	c.(493-495)GGG>GAG	p.G165E		NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	165						peroxisome	catalytic activity				0		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)										0.271186	91.051332	96.62009	32	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128440942	128440942	8166	5	G	A	A	A	559	43	ISOC1	2	2
AFF4	27125	broad.mit.edu	37	5	132270357	132270357	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:132270357G>A	uc003kyd.2	-	c.400C>T	c.(400-402)CAG>TAG	p.Q134*	AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Nonsense_Mutation_p.Q134*|AFF4_uc003kyf.3_Nonsense_Mutation_p.Q134*	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	134	Ser-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			kidney(2)|ovary(1)|skin(1)	4		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			Ovarian(126;889 1733 2942 10745 11605)				374				0.287234	74.38475	78.202982	27	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	132270357	132270357	360	5	G	A	A	A	611	47	AFF4	5	2
PCDHA3	56145	broad.mit.edu	37	5	140181997	140181997	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140181997C>T	uc003lhf.2	+	c.1215C>T	c.(1213-1215)TAC>TAT	p.Y405Y	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.Y405Y	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	405	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(5)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.345725	277.095109	282.747614	93	176	KEEP	---	---	---	---	capture		Silent	SNP	140181997	140181997	11945	5	C	T	T	T	259	20	PCDHA3	2	2
PCDHA8	56140	broad.mit.edu	37	5	140222743	140222743	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140222743C>A	uc003lhs.2	+	c.1837C>A	c.(1837-1839)CCA>ACA	p.P613T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.P613T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	613	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.561798	159.085441	159.388879	50	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140222743	140222743	11950	5	C	A	A	A	338	26	PCDHA8	2	2
PCDHA12	56137	broad.mit.edu	37	5	140255192	140255192	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140255192G>T	uc003lic.2	+	c.135G>T	c.(133-135)GTG>GTT	p.V45V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.V45V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	45	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Pancreas(113;759 1672 13322 24104 50104)								0.338843	113.242724	116.018917	41	80	KEEP	---	---	---	---	capture		Silent	SNP	140255192	140255192	11942	5	G	T	T	T	600	47	PCDHA12	2	2
PCDHA13	56136	broad.mit.edu	37	5	140264058	140264058	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140264058C>A	uc003lif.2	+	c.2205C>A	c.(2203-2205)GGC>GGA	p.G735G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.G735G|PCDHA13_uc003lid.2_Silent_p.G735G	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	735	Cytoplasmic (Potential).|PXXP 1.|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(147;1739 1852 5500 27947 37288)								0.122137	21.904969	40.223406	16	115	KEEP	---	---	---	---	capture		Silent	SNP	140264058	140264058	11943	5	C	A	A	A	314	25	PCDHA13	2	2
PCDHB7	56129	broad.mit.edu	37	5	140553818	140553818	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140553818C>A	uc003lit.2	+	c.1402C>A	c.(1402-1404)CTG>ATG	p.L468M		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	468	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.238095	82.727008	91.964693	35	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140553818	140553818	11967	5	C	A	A	A	311	24	PCDHB7	2	2
PCDHB8	56128	broad.mit.edu	37	5	140559208	140559208	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140559208G>A	uc011dai.1	+	c.1593G>A	c.(1591-1593)CGG>CGA	p.R531R	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	531	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.127841	68.898926	116.360616	45	307	KEEP	---	---	---	---	capture		Silent	SNP	140559208	140559208	11968	5	G	A	A	A	548	43	PCDHB8	2	2
PCDHGA1	56114	broad.mit.edu	37	5	140712339	140712339	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140712339G>T	uc003lji.1	+	c.2088G>T	c.(2086-2088)GCG>GCT	p.A696A	PCDHGA1_uc011dan.1_Silent_p.A696A	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	696	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.379845	146.872208	148.495084	49	80	KEEP	---	---	---	---	capture		Silent	SNP	140712339	140712339	11970	5	G	T	T	T	496	39	PCDHGA1	1	1
PCDHGA8	9708	broad.mit.edu	37	5	140773147	140773147	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140773147C>A	uc003lkd.1	+	c.767C>A	c.(766-768)CCC>CAC	p.P256H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.P256H	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	256	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.20625	69.876297	82.690629	33	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140773147	140773147	11980	5	C	A	A	A	286	22	PCDHGA8	2	2
PCDHGA8	9708	broad.mit.edu	37	5	140774234	140774234	+	Silent	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140774234G>C	uc003lkd.1	+	c.1854G>C	c.(1852-1854)TCG>TCC	p.S618S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.S618S	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	618	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.157895	24.852188	33.332146	12	64	KEEP	---	---	---	---	capture		Silent	SNP	140774234	140774234	11980	5	G	C	C	C	496	39	PCDHGA8	3	3
PCDHGA9	56107	broad.mit.edu	37	5	140783353	140783353	+	Silent	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140783353A>T	uc003lkh.1	+	c.834A>T	c.(832-834)GCA>GCT	p.A278A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.A278A	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	278	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.228758	95.955644	106.27159	35	118	KEEP	---	---	---	---	capture		Silent	SNP	140783353	140783353	11981	5	A	T	T	T	93	8	PCDHGA9	3	3
PCDHGA9	56107	broad.mit.edu	37	5	140784676	140784676	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140784676G>T	uc003lkh.1	+	c.2157G>T	c.(2155-2157)TGG>TGT	p.W719C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.W719C	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	719	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.282051	89.152847	94.129965	33	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140784676	140784676	11981	5	G	T	T	T	546	42	PCDHGA9	2	2
CAMK2A	815	broad.mit.edu	37	5	149644579	149644579	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149644579C>A	uc003lrt.2	-	c.158_splice	c.e3-1	p.D53_splice	CAMK2A_uc003lru.2_Splice_Site_SNP_p.D53_splice|CAMK2A_uc010jhe.2_Intron	NM_015981	NP_057065			calcium/calmodulin-dependent protein kinase II						interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|protein phosphorylation|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)							161				0.170455	25.164461	34.213567	15	73	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	149644579	149644579	2716	5	C	A	A	A	416	32	CAMK2A	5	2
ODZ2	57451	broad.mit.edu	37	5	167525048	167525048	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167525048C>A	uc010jjd.2	+	c.1729C>A	c.(1729-1731)CCA>ACA	p.P577T	ODZ2_uc003lzq.2_Missense_Mutation_p.P456T|ODZ2_uc003lzr.3_Missense_Mutation_p.P345T	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.290909	39.973495	42.130611	16	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167525048	167525048	11240	5	C	A	A	A	390	30	ODZ2	2	2
ZNF354C	30832	broad.mit.edu	37	5	178506336	178506336	+	Silent	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178506336A>T	uc003mju.2	+	c.903A>T	c.(901-903)CGA>CGT	p.R301R		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	301	C2H2-type 4.				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)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)										0.128405	46.404819	80.980815	33	224	KEEP	---	---	---	---	capture		Silent	SNP	178506336	178506336	18458	5	A	T	T	T	145	12	ZNF354C	3	3
SQSTM1	8878	broad.mit.edu	37	5	179250885	179250885	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179250885G>T	uc003mkw.3	+	c.329G>T	c.(328-330)CGC>CTC	p.R110L	SQSTM1_uc011dgr.1_Missense_Mutation_p.R26L|SQSTM1_uc011dgs.1_Missense_Mutation_p.R26L|SQSTM1_uc003mkv.3_Missense_Mutation_p.R110L|SQSTM1_uc003mkx.2_Missense_Mutation_p.R26L	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	110					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)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.256198	76.658756	83.123058	31	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179250885	179250885	15644	5	G	T	T	T	494	38	SQSTM1	1	1
SPEF2	79925	broad.mit.edu	37	5	35691149	35691149	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35691149G>T	uc003jjo.2	+	c.1535G>T	c.(1534-1536)GGA>GTA	p.G512V	SPEF2_uc003jjq.3_Missense_Mutation_p.G512V|SPEF2_uc003jjp.1_Missense_Mutation_p.G3V	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	512					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)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.166667	51.288539	68.994291	28	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35691149	35691149	15547	5	G	T	T	T	533	41	SPEF2	2	2
SPEF2	79925	broad.mit.edu	37	5	35793323	35793323	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35793323G>T	uc003jjo.2	+	c.4617G>T	c.(4615-4617)CTG>CTT	p.L1539L	SPEF2_uc003jjp.1_Silent_p.L1025L|SPEF2_uc003jjr.2_Silent_p.L594L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1539					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)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.212245	131.871857	150.61724	52	193	KEEP	---	---	---	---	capture		Silent	SNP	35793323	35793323	15547	5	G	T	T	T	613	48	SPEF2	2	2
SLC1A3	6507	broad.mit.edu	37	5	36686206	36686206	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36686206C>A	uc003jkj.3	+	c.1464C>A	c.(1462-1464)TCC>TCA	p.S488S	SLC1A3_uc011cox.1_Silent_p.S381S|SLC1A3_uc010iuy.2_Silent_p.S443S	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	488					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)									0.067416	-14.174781	37.612807	18	249	KEEP	---	---	---	---	capture		Silent	SNP	36686206	36686206	14929	5	C	A	A	A	275	22	SLC1A3	2	2
GDNF	2668	broad.mit.edu	37	5	37815930	37815930	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37815930C>A	uc011cpg.1	-	c.510G>T	c.(508-510)GAG>GAT	p.E170D	GDNF_uc011cpc.1_Missense_Mutation_p.E75D|GDNF_uc011cpd.1_Missense_Mutation_p.E101D|GDNF_uc011cpe.1_Missense_Mutation_p.E127D|GDNF_uc011cpf.1_Missense_Mutation_p.E127D|GDNF_uc011cph.1_Missense_Mutation_p.E144D|GDNF_uc011cpi.1_Missense_Mutation_p.E153D	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	153					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of monooxygenase activity|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)													0.170807	96.325884	129.342522	55	267	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37815930	37815930	6590	5	C	A	A	A	415	32	GDNF	2	2
RICTOR	253260	broad.mit.edu	37	5	38947422	38947422	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:38947422C>A	uc003jlo.2	-	c.4330G>T	c.(4330-4332)GGT>TGT	p.G1444C	RICTOR_uc003jlp.2_Missense_Mutation_p.G1420C|RICTOR_uc010ivf.2_Missense_Mutation_p.G1135C	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1420					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				0.122807	49.908788	97.48268	42	300	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38947422	38947422	13833	5	C	A	A	A	286	22	RICTOR	2	2
RICTOR	253260	broad.mit.edu	37	5	39021164	39021164	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39021164C>A	uc003jlo.2	-	c.172G>T	c.(172-174)GGC>TGC	p.G58C	RICTOR_uc003jlp.2_Missense_Mutation_p.G58C|RICTOR_uc010ivf.2_De_novo_Start_OutOfFrame|RICTOR_uc003jlq.1_Missense_Mutation_p.G42C|RICTOR_uc011cpk.1_Missense_Mutation_p.G58C	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	58					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				0.151515	89.624801	128.018589	50	280	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39021164	39021164	13833	5	C	A	A	A	312	24	RICTOR	2	2
PARP8	79668	broad.mit.edu	37	5	50091127	50091127	+	Missense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:50091127G>A	uc003jon.3	+	c.1304G>A	c.(1303-1305)AGT>AAT	p.S435N	PARP8_uc011cpz.1_Missense_Mutation_p.S327N|PARP8_uc003joo.2_Missense_Mutation_p.S435N|PARP8_uc003jop.2_Missense_Mutation_p.S435N	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	435						intracellular	NAD+ ADP-ribosyltransferase activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;0.0305)|Breast(144;0.222)												0.240741	139.897522	153.141224	52	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50091127	50091127	11882	5	G	A	A	A	468	36	PARP8	2	2
ADAMTS16	170690	broad.mit.edu	37	5	5319167	5319167	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5319167C>A	uc003jdl.2	+	c.3591C>A	c.(3589-3591)TGC>TGA	p.C1197*		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1197	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.367647	75.382414	76.419237	25	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	5319167	5319167	262	5	C	A	A	A	363	28	ADAMTS16	5	2
CCNO	10309	broad.mit.edu	37	5	54527229	54527229	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54527229A>G	uc003jpw.2	-	c.1027T>C	c.(1027-1029)TGC>CGC	p.C343R	CCNO_uc003jpv.2_Non-coding_Transcript	NM_021147	NP_066970	P22674	CCNO_HUMAN	cyclin domain containing	343					cell cycle|cell division|depyrimidination	nucleoplasm	uracil DNA N-glycosylase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)											0.227642	71.644631	80.01094	28	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54527229	54527229	3060	5	A	G	G	G	78	6	CCNO	4	4
RAB3C	115827	broad.mit.edu	37	5	58120870	58120870	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:58120870C>A	uc003jrp.2	+	c.377C>A	c.(376-378)ACT>AAT	p.T126N		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	126					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)										0.17931	60.357639	74.38911	26	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58120870	58120870	13392	5	C	A	A	A	260	20	RAB3C	2	2
BDP1	55814	broad.mit.edu	37	5	70797393	70797393	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:70797393A>T	uc003kbp.1	+	c.1961A>T	c.(1960-1962)CAC>CTC	p.H654L	BDP1_uc003kbn.1_Missense_Mutation_p.H654L|BDP1_uc003kbo.2_Missense_Mutation_p.H654L	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	654					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)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)										0.179104	57.019241	70.001008	24	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70797393	70797393	1417	5	A	T	T	T	78	6	BDP1	3	3
RGNEF	64283	broad.mit.edu	37	5	73165952	73165952	+	Silent	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:73165952A>T	uc010izf.2	+	c.2484A>T	c.(2482-2484)GCA>GCT	p.A828A	RGNEF_uc003kcx.2_Silent_p.A828A|RGNEF_uc011csq.1_Silent_p.A828A|RGNEF_uc011csr.1_Silent_p.A515A	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	828					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)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)										0.152466	66.799346	92.578498	34	189	KEEP	---	---	---	---	capture		Silent	SNP	73165952	73165952	13756	5	A	T	T	T	80	7	RGNEF	3	3
IQGAP2	10788	broad.mit.edu	37	5	75757446	75757446	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75757446G>T	uc003kek.2	+	c.98G>T	c.(97-99)CGG>CTG	p.R33L		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	33					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)										0.142857	55.359765	81.126418	30	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75757446	75757446	8118	5	G	T	T	T	507	39	IQGAP2	1	1
JMY	133746	broad.mit.edu	37	5	78610543	78610543	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:78610543G>T	uc003kfx.3	+	c.2528G>T	c.(2527-2529)AGA>ATA	p.R843I	JMY_uc003kfw.1_Missense_Mutation_p.R489I	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	843					'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)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)										0.256881	67.425392	73.29069	28	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78610543	78610543	8261	5	G	T	T	T	429	33	JMY	2	2
RASGRF2	5924	broad.mit.edu	37	5	80408586	80408586	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80408586C>A	uc003kha.1	+	c.1996C>A	c.(1996-1998)CTG>ATG	p.L666M	RASGRF2_uc011ctn.1_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	666	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)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)					p.L666M(HEC251-Tumor)	847				0.207944	187.596217	221.463379	89	339	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80408586	80408586	13534	5	C	A	A	A	415	32	RASGRF2	2	2
RASGRF2	5924	broad.mit.edu	37	5	80408635	80408635	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80408635T>C	uc003kha.1	+	c.2045T>C	c.(2044-2046)CTC>CCC	p.L682P	RASGRF2_uc011ctn.1_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	682	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)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)						847				0.264591	212.013562	224.868392	68	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80408635	80408635	13534	5	T	C	C	C	702	54	RASGRF2	4	4
VCAN	1462	broad.mit.edu	37	5	82837202	82837202	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82837202G>C	uc003kii.3	+	c.8380G>C	c.(8380-8382)GAG>CAG	p.E2794Q	VCAN_uc003kij.3_Missense_Mutation_p.E1807Q|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1458Q	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	2794	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)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.074766	-4.200118	55.555468	24	297	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82837202	82837202	17703	5	G	C	C	C	429	33	VCAN	3	3
EDIL3	10085	broad.mit.edu	37	5	83239283	83239283	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:83239283C>G	uc003kio.1	-	c.1398G>C	c.(1396-1398)AGG>AGC	p.R466S	EDIL3_uc003kip.1_Missense_Mutation_p.R456S	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	466	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)										0.247059	128.465722	138.367475	42	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83239283	83239283	5102	5	C	G	G	G	389	30	EDIL3	3	3
TMEM161B	153396	broad.mit.edu	37	5	87494880	87494880	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:87494880C>A	uc003kjc.2	-	c.1002G>T	c.(1000-1002)CTG>CTT	p.L334L	TMEM161B_uc011cty.1_Silent_p.L323L|TMEM161B_uc010jax.2_Non-coding_Transcript|TMEM161B_uc011ctx.1_Silent_p.L125L	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	334						integral to membrane					0		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)										0.259259	74.856349	80.521224	28	80	KEEP	---	---	---	---	capture		Silent	SNP	87494880	87494880	16611	5	C	A	A	A	314	25	TMEM161B	2	2
GPR98	84059	broad.mit.edu	37	5	89986703	89986703	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:89986703G>T	uc003kju.2	+	c.6796G>T	c.(6796-6798)GGC>TGC	p.G2266C	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2266	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)										0.229508	38.921865	43.010948	14	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89986703	89986703	6997	5	G	T	T	T	507	39	GPR98	1	1
HDAC2	3066	broad.mit.edu	37	6	114270215	114270215	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:114270215C>T	uc003pwd.1	-	c.1051G>A	c.(1051-1053)GCT>ACT	p.A351T	HDAC2_uc003pwc.1_Missense_Mutation_p.A227T|HDAC2_uc003pwe.1_Missense_Mutation_p.A227T	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	histone deacetylase 2	257	Histone deacetylase.				blood coagulation|chromatin remodeling|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of MHC class II biosynthetic process|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of collagen biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of proteolysis|positive regulation of receptor biosynthetic process	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|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)|sequence-specific DNA binding|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|central_nervous_system(1)	3		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)					302				0.259036	104.382798	113.092471	43	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114270215	114270215	7290	6	C	T	T	T	325	25	HDAC2	2	2
LAMA2	3908	broad.mit.edu	37	6	129511367	129511367	+	Silent	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129511367A>T	uc003qbn.2	+	c.1485A>T	c.(1483-1485)GGA>GGT	p.G495G	LAMA2_uc003qbo.2_Silent_p.G495G	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	495	Laminin EGF-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				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.285714	100.624424	106.406488	40	100	KEEP	---	---	---	---	capture		Silent	SNP	129511367	129511367	8929	6	A	T	T	T	132	11	LAMA2	3	3
L3MBTL3	84456	broad.mit.edu	37	6	130378624	130378624	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130378624G>T	uc003qbt.2	+	c.741G>T	c.(739-741)CCG>CCT	p.P247P	L3MBTL3_uc003qbu.2_Silent_p.P222P	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	247	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)	5				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)										0.565217	43.579398	43.665063	13	10	KEEP	---	---	---	---	capture		Silent	SNP	130378624	130378624	8916	6	G	T	T	T	496	39	L3MBTL3	1	1
MYB	4602	broad.mit.edu	37	6	135539023	135539023	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:135539023C>A	uc003qfh.2	+	c.2191C>A	c.(2191-2193)CCT>ACT	p.P731T	MYB_uc003qfc.2_Missense_Mutation_p.P610T|MYB_uc003qfi.2_Missense_Mutation_p.P715T|MYB_uc010kgi.2_Missense_Mutation_p.P573T|MYB_uc003qfq.2_Missense_Mutation_p.P728T|MYB_uc010kgj.2_Missense_Mutation_p.P575T|MYB_uc003qfo.2_Missense_Mutation_p.P525T|MYB_uc003qfu.2_Missense_Mutation_p.P607T|MYB_uc003qfl.2_Non-coding_Transcript|MYB_uc003qfv.2_Non-coding_Transcript|MYB_uc003qfz.2_Non-coding_Transcript|MYB_uc003qfx.2_Non-coding_Transcript|MYB_uc003qga.2_Non-coding_Transcript|MYB_uc003qgb.2_Non-coding_Transcript|MYB_uc010kgk.2_Non-coding_Transcript|MYB_uc003qfd.2_Non-coding_Transcript|MYB_uc003qfe.2_Non-coding_Transcript|MYB_uc003qfg.2_Non-coding_Transcript|MYB_uc003qff.2_Non-coding_Transcript|MYB_uc003qfj.2_Non-coding_Transcript|MYB_uc003qfm.2_Non-coding_Transcript|MYB_uc003qfp.2_Non-coding_Transcript|MYB_uc003qfn.2_Non-coding_Transcript|MYB_uc003qfk.2_Non-coding_Transcript|MYB_uc003qfr.2_Non-coding_Transcript|MYB_uc003qfs.2_Missense_Mutation_p.P236T|MYB_uc003qft.2_Non-coding_Transcript|MYB_uc003qfw.2_Missense_Mutation_p.P422T|MYB_uc003qfy.2_Non-coding_Transcript|MYB_uc003qgc.2_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	610					blood coagulation|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding|specific transcriptional repressor activity|transcription activator activity			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)						299				0.276018	160.36868	170.358086	61	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135539023	135539023	10402	6	C	A	A	A	234	18	MYB	2	2
SHPRH	257218	broad.mit.edu	37	6	146262871	146262871	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146262871C>G	uc003qld.2	-	c.2378G>C	c.(2377-2379)CGT>CCT	p.R793P	SHPRH_uc003qle.2_Missense_Mutation_p.R793P|SHPRH_uc003qlf.2_Missense_Mutation_p.R793P|SHPRH_uc003qlg.1_Missense_Mutation_p.R349P|SHPRH_uc003qlj.1_Missense_Mutation_p.R682P	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	793	Helicase ATP-binding; second part.				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)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)										0.303922	103.123348	106.601919	31	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146262871	146262871	14786	6	C	G	G	G	247	19	SHPRH	3	3
ESR1	2099	broad.mit.edu	37	6	152265375	152265375	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152265375C>A	uc010kio.2	+	c.834C>A	c.(832-834)GGC>GGA	p.G278G	ESR1_uc003qom.3_Silent_p.G276G|ESR1_uc010kin.2_Silent_p.G276G|ESR1_uc010kip.2_Silent_p.G275G|ESR1_uc003qon.3_Silent_p.G276G|ESR1_uc003qoo.3_Silent_p.G276G|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Silent_p.G57G|ESR1_uc010kit.1_Silent_p.G13G|ESR1_uc011eey.1_Silent_p.G13G	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	estrogen receptor alpha isoform 4	276	Interaction with AKAP13.|Hinge.|Mediates interaction with DNTTIP2.				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)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	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				0.293194	138.272867	145.622431	56	135	KEEP	---	---	---	---	capture		Silent	SNP	152265375	152265375	5449	6	C	A	A	A	314	25	ESR1	2	2
SYNE1	23345	broad.mit.edu	37	6	152763330	152763330	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152763330G>T	uc010kiw.2	-	c.3888C>A	c.(3886-3888)ATC>ATA	p.I1296I	SYNE1_uc003qot.3_Silent_p.I1303I|SYNE1_uc003qou.3_Silent_p.I1296I|SYNE1_uc010kjb.1_Silent_p.I1279I|SYNE1_uc003qow.2_Silent_p.I591I|SYNE1_uc003qox.1_Silent_p.I812I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1296	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)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.344595	144.376406	147.534659	51	97	KEEP	---	---	---	---	capture		Silent	SNP	152763330	152763330	15966	6	G	T	T	T	473	37	SYNE1	1	1
LPA	4018	broad.mit.edu	37	6	160977165	160977165	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160977165T>A	uc003qtl.2	-	c.4865A>T	c.(4864-4866)CAG>CTG	p.Q1622L		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4130	Kringle 37.				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)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.311881	187.645137	194.013614	63	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160977165	160977165	9276	6	T	A	A	A	715	55	LPA	3	3
ATXN1	6310	broad.mit.edu	37	6	16328052	16328052	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:16328052C>A	uc003nbt.2	-	c.490G>T	c.(490-492)GGG>TGG	p.G164W	ATXN1_uc010jpi.2_Missense_Mutation_p.G164W|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	164					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)												0.326316	78.955626	81.517614	31	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16328052	16328052	1228	6	C	A	A	A	312	24	ATXN1	2	2
WDR27	253769	broad.mit.edu	37	6	170088913	170088913	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:170088913C>A	uc010kkw.1	-	c.189G>T	c.(187-189)CAG>CAT	p.Q63H	WDR27_uc003qwx.2_Missense_Mutation_p.Q63H|WDR27_uc003qwy.2_Missense_Mutation_p.Q63H|WDR27_uc011egw.1_Non-coding_Transcript|WDR27_uc010kkx.2_Missense_Mutation_p.Q63H	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	WD repeat domain 27	63	WD 1.									pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)										0.276699	152.98576	162.231466	57	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170088913	170088913	17857	6	C	A	A	A	311	24	WDR27	2	2
NRSN1	140767	broad.mit.edu	37	6	24134721	24134721	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:24134721A>T	uc010jpq.1	+	c.166A>T	c.(166-168)AGG>TGG	p.R56W		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	neurensin 1	56					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle					0														0.182609	45.092225	55.991372	21	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24134721	24134721	11067	6	A	T	T	T	88	7	NRSN1	3	3
FAM65B	9750	broad.mit.edu	37	6	24843104	24843104	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:24843104C>G	uc003neo.1	-	c.1906G>C	c.(1906-1908)GAT>CAT	p.D636H	FAM65B_uc011djs.1_Missense_Mutation_p.D615H|FAM65B_uc011dju.1_Missense_Mutation_p.D620H|FAM65B_uc003nep.2_Missense_Mutation_p.D586H|FAM65B_uc011djt.1_Missense_Mutation_p.D586H	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	636					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1														0.258929	94.308068	100.218276	29	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24843104	24843104	5823	6	C	G	G	G	390	30	FAM65B	3	3
SLC17A4	10050	broad.mit.edu	37	6	25769244	25769244	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25769244C>A	uc003nfe.2	+	c.123C>A	c.(121-123)CTC>CTA	p.L41L	SLC17A4_uc011djx.1_Silent_p.L41L|SLC17A4_uc003nff.1_5'UTR|SLC17A4_uc003nfg.2_5'UTR	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	solute carrier family 17 (sodium phosphate),	41					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity				0														0.212121	62.418624	72.539845	28	104	KEEP	---	---	---	---	capture		Silent	SNP	25769244	25769244	14915	6	C	A	A	A	366	29	SLC17A4	2	2
OR2J2	26707	broad.mit.edu	37	6	29141790	29141790	+	Silent	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29141790T>C	uc011dlm.1	+	c.378T>C	c.(376-378)GCT>GCC	p.A126A		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.148936	163.522033	230.221871	84	480	KEEP	---	---	---	---	capture		Silent	SNP	29141790	29141790	11409	6	T	C	C	C	704	55	OR2J2	4	4
MUC21	394263	broad.mit.edu	37	6	30955175	30955175	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30955175C>A	uc003nsh.2	+	c.1223C>A	c.(1222-1224)TCT>TAT	p.S408Y	MUC21_uc003nsi.1_Non-coding_Transcript	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	mucin 21 precursor	408	26.|Ser-rich.|28 X 15 AA approximate tandem repeats.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)	1														0.170984	61.249434	81.012095	33	160	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30955175	30955175	10371	6	C	A	A	A	416	32	MUC21	2	2
NOTCH4	4855	broad.mit.edu	37	6	32168740	32168740	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32168740C>A	uc003obb.2	-	c.4183G>T	c.(4183-4185)GAC>TAC	p.D1395Y	NOTCH4_uc003oba.2_Missense_Mutation_p.D58Y|NOTCH4_uc011dpu.1_Non-coding_Transcript|NOTCH4_uc011dpv.1_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1395	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				0.321429	74.397562	76.775537	27	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32168740	32168740	10954	6	C	A	A	A	377	29	NOTCH4	2	2
TJAP1	93643	broad.mit.edu	37	6	43472822	43472822	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43472822G>A	uc003ovd.2	+	c.903G>A	c.(901-903)CCG>CCA	p.P301P	TJAP1_uc003ovf.2_Silent_p.P291P|TJAP1_uc003ove.2_Silent_p.P291P|TJAP1_uc003ovc.2_Silent_p.P291P|TJAP1_uc010jyp.2_Silent_p.P260P|TJAP1_uc011dvh.1_Silent_p.P291P|TJAP1_uc003ovg.2_Silent_p.P167P|TJAP1_uc011dvi.1_Silent_p.P301P|TJAP1_uc011dvj.1_Silent_p.P101P|TJAP1_uc003ovi.2_Silent_p.P167P	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 isoform a	301	Pro-rich.					Golgi apparatus|tight junction	protein binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)											0.177665	65.587591	84.736706	35	162	KEEP	---	---	---	---	capture		Silent	SNP	43472822	43472822	16457	6	G	A	A	A	496	39	TJAP1	1	1
TDRD6	221400	broad.mit.edu	37	6	46657599	46657599	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46657599G>T	uc003oyj.2	+	c.1734G>T	c.(1732-1734)GTG>GTT	p.V578V	TDRD6_uc010jze.2_Silent_p.V572V	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	578	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)	5			Lung(136;0.192)											0.257143	212.733816	229.570429	81	234	KEEP	---	---	---	---	capture		Silent	SNP	46657599	46657599	16261	6	G	T	T	T	600	47	TDRD6	2	2
MEP1A	4224	broad.mit.edu	37	6	46806811	46806811	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46806811G>T	uc011dwh.1	+	c.2263G>T	c.(2263-2265)GCT>TCT	p.A755S	MEP1A_uc010jzh.1_Missense_Mutation_p.A727S|MEP1A_uc011dwg.1_Missense_Mutation_p.A449S|MEP1A_uc011dwi.1_Missense_Mutation_p.A627S	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	727	Helical; (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)											0.213166	159.450345	183.682608	68	251	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46806811	46806811	9864	6	G	T	T	T	546	42	MEP1A	2	2
C6orf138	442213	broad.mit.edu	37	6	47846506	47846506	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47846506C>G	uc011dwm.1	-	c.2023G>C	c.(2023-2025)GTC>CTC	p.V675L	C6orf138_uc011dwn.1_Missense_Mutation_p.V439L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	692	Helical; (Potential).					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.202381	44.13345	51.049865	17	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47846506	47846506	2435	6	C	G	G	G	247	19	C6orf138	3	3
DEFB112	245915	broad.mit.edu	37	6	50011302	50011302	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50011302C>T	uc011dws.1	-	c.328G>A	c.(328-330)GAC>AAC	p.D110N		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	beta-defensin 112 precursor	110					defense response to bacterium	extracellular region				central_nervous_system(1)	1	Lung NSC(77;0.042)													0.206186	49.057408	56.811421	20	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50011302	50011302	4578	6	C	T	T	T	416	32	DEFB112	2	2
TFAP2B	7021	broad.mit.edu	37	6	50791250	50791250	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50791250C>A	uc003pag.2	+	c.212C>A	c.(211-213)CCA>CAA	p.P71Q		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	71	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter, global	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)					Pancreas(116;1373 2332 5475 10752)								0.178082	27.527656	34.65264	13	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50791250	50791250	16316	6	C	A	A	A	273	21	TFAP2B	2	2
F13A1	2162	broad.mit.edu	37	6	6318869	6318869	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:6318869C>T	uc003mwv.2	-	c.29G>A	c.(28-30)GGA>GAA	p.G10E	F13A1_uc011dib.1_Missense_Mutation_p.G10E	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	10					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)									0.227848	224.650319	251.490591	90	305	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6318869	6318869	5534	6	C	T	T	T	390	30	F13A1	2	2
RIMS1	22999	broad.mit.edu	37	6	72806785	72806785	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:72806785G>T	uc003pga.2	+	c.379G>T	c.(379-381)GGG>TGG	p.G127W		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	127	RabBD.|FYVE-type.				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)												0.25	54.234884	59.006892	21	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72806785	72806785	13844	6	G	T	T	T	611	47	RIMS1	2	2
CD109	135228	broad.mit.edu	37	6	74440084	74440084	+	Silent	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:74440084A>T	uc003php.2	+	c.294A>T	c.(292-294)GCA>GCT	p.A98A	CD109_uc010kaz.2_Silent_p.A98A|CD109_uc003phq.2_Silent_p.A98A|CD109_uc010kba.2_Intron	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	98						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4														0.363095	194.132749	196.902019	61	107	KEEP	---	---	---	---	capture		Silent	SNP	74440084	74440084	3090	6	A	T	T	T	80	7	CD109	3	3
ZNF292	23036	broad.mit.edu	37	6	87966098	87966098	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:87966098G>T	uc003plm.3	+	c.2751G>T	c.(2749-2751)TTG>TTT	p.L917F		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	917					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)		BRCA - Breast invasive adenocarcinoma(108;0.0199)										0.318519	128.27319	132.227249	43	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87966098	87966098	18418	6	G	T	T	T	620	48	ZNF292	2	2
GABRR1	2569	broad.mit.edu	37	6	89895078	89895078	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:89895078G>A	uc003pna.2	-	c.747C>T	c.(745-747)CTC>CTT	p.L249L	GABRR1_uc011dzv.1_Silent_p.L226L	NM_002042	NP_002033	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 1	249	Extracellular (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			pancreas(1)	1		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)									0.0625	-18.251614	36.012083	17	255	KEEP	---	---	---	---	capture		Silent	SNP	89895078	89895078	6427	6	G	A	A	A	574	45	GABRR1	2	2
EPHA7	2045	broad.mit.edu	37	6	93964397	93964397	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:93964397C>T	uc003poe.2	-	c.2500G>A	c.(2500-2502)GAA>AAA	p.E834K	EPHA7_uc003pof.2_Missense_Mutation_p.E829K|EPHA7_uc011eac.1_Missense_Mutation_p.E830K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	834	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)		BRCA - Breast invasive adenocarcinoma(108;0.0847)						635				0.28866	82.157791	86.043297	28	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93964397	93964397	5365	6	C	T	T	T	416	32	EPHA7	2	2
FHL5	9457	broad.mit.edu	37	6	97063550	97063550	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97063550G>T	uc003pos.1	+	c.757G>T	c.(757-759)GGG>TGG	p.G253W	FHL5_uc003pot.1_Missense_Mutation_p.G253W	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	253	LIM zinc-binding 4.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)										0.324675	79.857867	81.953372	25	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97063550	97063550	6119	6	G	T	T	T	507	39	FHL5	1	1
GPR63	81491	broad.mit.edu	37	6	97246908	97246908	+	Missense_Mutation	SNP	T	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97246908T>G	uc010kcl.2	-	c.700A>C	c.(700-702)ACA>CCA	p.T234P	GPR63_uc003pou.2_Missense_Mutation_p.T234P	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	234	Extracellular (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)		BRCA - Breast invasive adenocarcinoma(108;0.0912)										0.326531	214.840692	220.068322	64	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97246908	97246908	6979	6	T	G	G	G	767	59	GPR63	4	4
GPR63	81491	broad.mit.edu	37	6	97247592	97247592	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:97247592C>A	uc010kcl.2	-	c.16G>T	c.(16-18)GTG>TTG	p.V6L	GPR63_uc003pou.2_Missense_Mutation_p.V6L	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	6	Extracellular (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)		BRCA - Breast invasive adenocarcinoma(108;0.0912)										0.23622	76.285979	84.364291	30	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97247592	97247592	6979	6	C	A	A	A	260	20	GPR63	2	2
ZAN	7455	broad.mit.edu	37	7	100350034	100350034	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100350034C>A	uc003uwj.2	+	c.2306C>A	c.(2305-2307)TCC>TAC	p.S769Y	ZAN_uc003uwk.2_Missense_Mutation_p.S769Y|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	769	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)		STAD - Stomach adenocarcinoma(171;0.19)											0.363636	89.762777	91.386025	36	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100350034	100350034	18096	7	C	A	A	A	390	30	ZAN	2	2
MUC17	140453	broad.mit.edu	37	7	100678604	100678604	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100678604G>T	uc003uxp.1	+	c.3907G>T	c.(3907-3909)GTT>TTT	p.V1303F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1303	Extracellular (Potential).|Ser-rich.|19.|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)													0.29661	410.115927	427.576129	140	332	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100678604	100678604	10368	7	G	T	T	T	624	48	MUC17	2	2
MUC17	140453	broad.mit.edu	37	7	100680895	100680895	+	Silent	SNP	A	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100680895A>C	uc003uxp.1	+	c.6198A>C	c.(6196-6198)ACA>ACC	p.T2066T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2066	Extracellular (Potential).|32.|59 X approximate tandem repeats.|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)													0.167722	128.145448	161.275621	53	263	KEEP	---	---	---	---	capture		Silent	SNP	100680895	100680895	10368	7	A	C	C	C	54	5	MUC17	4	4
PHF14	9678	broad.mit.edu	37	7	11022088	11022088	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11022088G>T	uc003srz.2	+	c.202G>T	c.(202-204)GAA>TAA	p.E68*	PHF14_uc003sry.1_Nonsense_Mutation_p.E68*|PHF14_uc011jxi.1_Intron|PHF14_uc011jxj.1_Intron	NM_001007157	NP_001007158	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 1	68	Glu/Lys-rich.						zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)										0.265306	31.950657	34.391378	13	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	11022088	11022088	12248	7	G	T	T	T	429	33	PHF14	5	2
PHF14	9678	broad.mit.edu	37	7	11068427	11068427	+	Silent	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11068427A>T	uc003srz.2	+	c.1437A>T	c.(1435-1437)TCA>TCT	p.S479S	PHF14_uc003sry.1_Silent_p.S479S|PHF14_uc011jxi.1_Silent_p.S194S|PHF14_uc011jxj.1_Silent_p.S194S	NM_001007157	NP_001007158	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 1	479							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)										0.131737	33.526242	55.543796	22	145	KEEP	---	---	---	---	capture		Silent	SNP	11068427	11068427	12248	7	A	T	T	T	80	7	PHF14	3	3
THSD7A	221981	broad.mit.edu	37	7	11582602	11582602	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11582602C>A	uc003ssf.3	-	c.1596G>T	c.(1594-1596)CAG>CAT	p.Q532H		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	532	TSP type-1 5.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.294118	70.24894	73.468934	25	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11582602	11582602	16407	7	C	A	A	A	363	28	THSD7A	2	2
C7orf58	79974	broad.mit.edu	37	7	120911454	120911455	+	Missense_Mutation	DNP	AC	TA	TA			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:120911454_120911455AC>TA	uc003vjq.3	+	c.2838_2839AC>TA	c.(2836-2841)CTACAG>CTTAAG	p.Q947K		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	947						endoplasmic reticulum				ovary(4)|large_intestine(2)|pancreas(1)	7	all_neural(327;0.117)													0.304029	224.115664	233.476373	83	190	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	120911454	120911455	2512	7	AC	TA	TA	TA	171	14	C7orf58	3	3
PTPRZ1	5803	broad.mit.edu	37	7	121623757	121623757	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121623757C>G	uc003vjy.2	+	c.658C>G	c.(658-660)CTT>GTT	p.L220V	PTPRZ1_uc003vjz.2_Missense_Mutation_p.L220V	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	220	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														0.342183	346.74387	354.228906	116	223	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121623757	121623757	13272	7	C	G	G	G	312	24	PTPRZ1	3	3
ASB15	142685	broad.mit.edu	37	7	123257663	123257664	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123257663_123257664CC>AA	uc003vku.1	+	c.323_324CC>AA	c.(322-324)ACC>AAA	p.T108K	ASB15_uc003vkv.1_Missense_Mutation_p.T108K|ASB15_uc003vkw.1_Missense_Mutation_p.T108K	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box-containing 15	108					intracellular signal transduction					lung(1)	1														0.294393	188.472491	196.549406	63	151	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	123257663	123257664	1037	7	CC	AA	AA	AA	234	18	ASB15	2	2
GRM8	2918	broad.mit.edu	37	7	126173069	126173069	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126173069G>A	uc003vlr.2	-	c.2367C>T	c.(2365-2367)ACC>ACT	p.T789T	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.T789T|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	789	Helical; Name=6; (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)									0.130435	23.650454	38.924611	15	100	KEEP	---	---	---	---	capture		Silent	SNP	126173069	126173069	7082	7	G	A	A	A	600	47	GRM8	2	2
GRM8	2918	broad.mit.edu	37	7	126173340	126173340	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:126173340G>T	uc003vlr.2	-	c.2096C>A	c.(2095-2097)ACC>AAC	p.T699N	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.T699N|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	699	Helical; Name=4; (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)									0.333333	95.726155	98.230353	34	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126173340	126173340	7082	7	G	T	T	T	572	44	GRM8	2	2
CCDC136	64753	broad.mit.edu	37	7	128450286	128450286	+	Missense_Mutation	SNP	C	A	A	rs116868322	by1000genomes	TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128450286C>A	uc003vnv.1	+	c.1894C>A	c.(1894-1896)CAA>AAA	p.Q632K	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.Q448K|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_Missense_Mutation_p.Q242K	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	632						integral to membrane	protein binding			ovary(2)	2														0.363636	48.889553	49.608796	16	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128450286	128450286	2890	7	C	A	A	A	273	21	CCDC136	2	2
TSPAN33	340348	broad.mit.edu	37	7	128806740	128806740	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128806740C>A	uc003vop.1	+	c.581C>A	c.(580-582)CCT>CAT	p.P194H	TSPAN33_uc003voq.1_Missense_Mutation_p.P26H	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	tetraspanin 33	194	Extracellular (Potential).					integral to membrane				ovary(1)	1														0.301556	410.912871	428.999131	155	359	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128806740	128806740	17199	7	C	A	A	A	312	24	TSPAN33	2	2
PLXNA4	91584	broad.mit.edu	37	7	131866251	131866251	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131866251G>A	uc003vra.3	-	c.3381C>T	c.(3379-3381)TCC>TCT	p.S1127S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1127	Extracellular (Potential).|IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.147059	71.226826	103.773064	40	232	KEEP	---	---	---	---	capture		Silent	SNP	131866251	131866251	12548	7	G	A	A	A	548	43	PLXNA4	2	2
CREB3L2	64764	broad.mit.edu	37	7	137600584	137600584	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:137600584C>A	uc003vtw.2	-	c.494G>T	c.(493-495)GGG>GTG	p.G165V	CREB3L2_uc003vtx.1_Missense_Mutation_p.G165V|CREB3L2_uc003vty.3_Missense_Mutation_p.G165V|CREB3L2_uc003vtv.2_Missense_Mutation_p.G102V	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	165	Cytoplasmic (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|ovary(1)	159										123				0.247706	69.467482	75.783703	27	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137600584	137600584	3996	7	C	A	A	A	286	22	CREB3L2	2	2
MGAM	8972	broad.mit.edu	37	7	141734530	141734530	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141734530G>T	uc003vwy.2	+	c.1848G>T	c.(1846-1848)GCG>GCT	p.A616A		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	616	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)									0.09434	8.073882	25.591367	10	96	KEEP	---	---	---	---	capture		Silent	SNP	141734530	141734530	9931	7	G	T	T	T	496	39	MGAM	1	1
MGAM	8972	broad.mit.edu	37	7	141755465	141755465	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141755465C>A	uc003vwy.2	+	c.3422C>A	c.(3421-3423)TCC>TAC	p.S1141Y		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1141	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)									0.298113	207.418531	217.075797	79	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141755465	141755465	9931	7	C	A	A	A	390	30	MGAM	2	2
MGAM	8972	broad.mit.edu	37	7	141765177	141765177	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141765177C>A	uc003vwy.2	+	c.4527C>A	c.(4525-4527)ACC>ACA	p.T1509T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1509	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)									0.24	14.637312	16.180044	6	19	KEEP	---	---	---	---	capture		Silent	SNP	141765177	141765177	9931	7	C	A	A	A	275	22	MGAM	2	2
TRPV5	56302	broad.mit.edu	37	7	142625790	142625790	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142625790G>T	uc003wby.1	-	c.758C>A	c.(757-759)ACT>AAT	p.T253N	TRPV5_uc003wbz.2_Missense_Mutation_p.T253N	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	253	ANK 5.|Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)	5	Melanoma(164;0.059)													0.414634	50.866468	51.127681	17	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142625790	142625790	17150	7	G	T	T	T	468	36	TRPV5	2	2
NOBOX	135935	broad.mit.edu	37	7	144097391	144097391	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:144097391G>A	uc011kue.1	-	c.859C>T	c.(859-861)CTA>TTA	p.L287L		NM_001080413	NP_001073882			NOBOX oogenesis homeobox											ovary(1)	1	Melanoma(164;0.14)													0.323232	84.587941	87.323066	32	67	KEEP	---	---	---	---	capture		Silent	SNP	144097391	144097391	10915	7	G	A	A	A	438	34	NOBOX	2	2
CNTNAP2	26047	broad.mit.edu	37	7	147259322	147259322	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147259322C>A	uc003weu.1	+	c.1870C>A	c.(1870-1872)CCT>ACT	p.P624T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	624	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)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.333333	203.265144	208.854128	76	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147259322	147259322	3785	7	C	A	A	A	338	26	CNTNAP2	2	2
ZNF746	155061	broad.mit.edu	37	7	149174740	149174740	+	Silent	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:149174740G>C	uc010lpi.2	-	c.627C>G	c.(625-627)GCC>GCG	p.A209A	ZNF746_uc003wfw.2_Silent_p.A209A	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 1	209					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)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)											0.345455	104.40117	106.728053	38	72	KEEP	---	---	---	---	capture		Silent	SNP	149174740	149174740	18727	7	G	C	C	C	496	39	ZNF746	3	3
TMEM176A	55365	broad.mit.edu	37	7	150500824	150500824	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150500824C>T	uc003whx.1	+	c.459C>T	c.(457-459)ATC>ATT	p.I153I	TMEM176B_uc003whw.3_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	hepatocellular carcinoma-associated antigen 112	153						integral to membrane				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.313333	141.071009	145.722493	47	103	KEEP	---	---	---	---	capture		Silent	SNP	150500824	150500824	16626	7	C	T	T	T	408	32	TMEM176A	2	2
ASB10	136371	broad.mit.edu	37	7	150878458	150878458	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150878458C>A	uc003wjm.1	-	c.807G>T	c.(805-807)CGG>CGT	p.R269R	ASB10_uc003wjl.1_Silent_p.R269R|ASB10_uc003wjn.1_Silent_p.R209R	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	224	ANK 4.				intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.342466	68.044849	69.649141	25	48	KEEP	---	---	---	---	capture		Silent	SNP	150878458	150878458	1032	7	C	A	A	A	327	26	ASB10	2	2
SMARCD3	6604	broad.mit.edu	37	7	150939644	150939644	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150939644C>A	uc003wjs.2	-	c.502G>T	c.(502-504)GCG>TCG	p.A168S	SMARCD3_uc003wjt.2_Missense_Mutation_p.A155S|SMARCD3_uc003wju.2_Missense_Mutation_p.A155S|SMARCD3_uc011kvh.1_Missense_Mutation_p.A168S|SMARCD3_uc010lqa.1_Missense_Mutation_p.A168S	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin	168					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			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.344828	307.140982	313.929769	110	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150939644	150939644	15277	7	C	A	A	A	325	25	SMARCD3	2	2
PAXIP1	22976	broad.mit.edu	37	7	154775016	154775016	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:154775016C>A	uc003wlp.2	-	c.351G>T	c.(349-351)CTG>CTT	p.L117L	PAXIP1_uc003wlq.1_Silent_p.L83L|PAXIP1_uc011kvs.1_Silent_p.L81L|PAXIP1_uc003wlr.1_Silent_p.L26L	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	117	BRCT 2.|Interaction with PA1 (By similarity).				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)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)						633				0.106383	5.737906	12.969868	5	42	KEEP	---	---	---	---	capture		Silent	SNP	154775016	154775016	11907	7	C	A	A	A	210	17	PAXIP1	2	2
PRPS1L1	221823	broad.mit.edu	37	7	18067033	18067033	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18067033T>A	uc003stz.2	-	c.373A>T	c.(373-375)ATC>TTC	p.I125F		NM_175886	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like	125					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			ovary(1)	1	Lung NSC(10;0.0385)|all_lung(11;0.0736)													0.346491	250.361499	255.10246	79	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18067033	18067033	13022	7	T	A	A	A	663	51	PRPS1L1	3	3
DNAH11	8701	broad.mit.edu	37	7	21631013	21631013	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21631013C>T	uc003svc.2	+	c.2485C>T	c.(2485-2487)CGC>TGC	p.R829C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	829	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														0.130841	19.881367	34.057548	14	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21631013	21631013	4781	7	C	T	T	T	351	27	DNAH11	1	1
STK31	56164	broad.mit.edu	37	7	23826529	23826529	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:23826529C>A	uc003sws.3	+	c.2473C>A	c.(2473-2475)CCT>ACT	p.P825T	STK31_uc003swt.3_Missense_Mutation_p.P802T|STK31_uc011jze.1_Missense_Mutation_p.P825T|STK31_uc010kuq.2_Missense_Mutation_p.P802T|STK31_uc003swv.1_5'Flank	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	825	Protein kinase.				protein phosphorylation		ATP binding|nucleic acid binding|protein serine/threonine kinase activity			ovary(2)|lung(2)	4										598				0.137195	64.153988	105.857035	45	283	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23826529	23826529	15816	7	C	A	A	A	338	26	STK31	2	2
C7orf27	221927	broad.mit.edu	37	7	2582880	2582880	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2582880T>C	uc003smi.2	-	c.881A>G	c.(880-882)CAC>CGC	p.H294R	C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_3'UTR	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	294					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)										0.1625	48.184754	65.493977	26	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2582880	2582880	2489	7	T	C	C	C	767	59	C7orf27	4	4
SKAP2	8935	broad.mit.edu	37	7	26779578	26779578	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:26779578G>A	uc003syc.2	-	c.313C>T	c.(313-315)CAG>TAG	p.Q105*	SKAP2_uc011jzi.1_5'UTR|SKAP2_uc011jzj.1_Nonsense_Mutation_p.Q90*	NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	105					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1														0.146341	24.956545	34.80379	12	70	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	26779578	26779578	14851	7	G	A	A	A	611	47	SKAP2	5	2
HOXA1	3198	broad.mit.edu	37	7	27135327	27135327	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27135327G>T	uc003sye.2	-	c.205C>A	c.(205-207)CAC>AAC	p.H69N	HOXA1_uc003syd.2_Missense_Mutation_p.H69N	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a	69	Poly-His.					nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3												OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.263736	60.821577	65.375518	24	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27135327	27135327	7580	7	G	T	T	T	611	47	HOXA1	2	2
HOXA2	3199	broad.mit.edu	37	7	27140626	27140626	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27140626G>T	uc003syh.2	-	c.850C>A	c.(850-852)CTG>ATG	p.L284M		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	284						nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.287313	193.150268	204.034026	77	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27140626	27140626	7584	7	G	T	T	T	425	33	HOXA2	2	2
HOXA3	3200	broad.mit.edu	37	7	27147954	27147954	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27147954G>T	uc011jzl.1	-	c.912C>A	c.(910-912)ACC>ACA	p.T304T	HOXA3_uc011jzk.1_Silent_p.T146T|HOXA3_uc003syk.2_Silent_p.T304T	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	304					angiogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			breast(2)	2						Esophageal Squamous(136;1368 1743 5685 7935 50360)								0.288889	33.354927	35.153955	13	32	KEEP	---	---	---	---	capture		Silent	SNP	27147954	27147954	7585	7	G	T	T	T	444	35	HOXA3	2	2
HOXA7	3204	broad.mit.edu	37	7	27196029	27196029	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27196029C>G	uc003sys.2	-	c.136G>C	c.(136-138)GCC>CCC	p.A46P		NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	46					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														0.162602	46.468935	59.761872	20	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27196029	27196029	7589	7	C	G	G	G	351	27	HOXA7	3	3
SCRN1	9805	broad.mit.edu	37	7	29966088	29966088	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:29966088C>T	uc011kaa.1	-	c.1126G>A	c.(1126-1128)GCC>ACC	p.A376T	SCRN1_uc011jzy.1_Missense_Mutation_p.A288T|SCRN1_uc003tak.2_Missense_Mutation_p.A356T|SCRN1_uc011jzz.1_Missense_Mutation_p.A356T|SCRN1_uc011jzw.1_Missense_Mutation_p.A223T|SCRN1_uc010kvp.2_Missense_Mutation_p.A356T|SCRN1_uc011jzx.1_Missense_Mutation_p.A179T	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	secernin 1 isoform b	356					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			ovary(2)	2														0.086957	-0.971884	50.762763	26	273	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29966088	29966088	14420	7	C	T	T	T	325	25	SCRN1	2	2
SCRN1	9805	broad.mit.edu	37	7	29980415	29980415	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:29980415C>G	uc011kaa.1	-	c.682G>C	c.(682-684)GCT>CCT	p.A228P	SCRN1_uc011jzy.1_Missense_Mutation_p.A140P|SCRN1_uc003tak.2_Missense_Mutation_p.A208P|SCRN1_uc011jzz.1_Missense_Mutation_p.A208P|SCRN1_uc011jzw.1_Intron|SCRN1_uc010kvp.2_Missense_Mutation_p.A208P|SCRN1_uc011jzx.1_Missense_Mutation_p.A31P	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	secernin 1 isoform b	208					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			ovary(2)	2														0.183721	196.258796	236.671768	79	351	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29980415	29980415	14420	7	C	G	G	G	351	27	SCRN1	3	3
BBS9	27241	broad.mit.edu	37	7	33545221	33545221	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:33545221G>A	uc003tdn.1	+	c.2262G>A	c.(2260-2262)GCG>GCA	p.A754A	BBS9_uc003tdo.1_Silent_p.A719A|BBS9_uc003tdp.1_Silent_p.A749A|BBS9_uc003tdq.1_Silent_p.A714A|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Silent_p.A278A|BBS9_uc003tds.1_Silent_p.A177A|BBS9_uc003tdt.2_Non-coding_Transcript	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	parathyroid hormone-responsive B1 isoform 2	754					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(11;0.0894)											0.083916	4.354324	29.438083	12	131	KEEP	---	---	---	---	capture		Silent	SNP	33545221	33545221	1363	7	G	A	A	A	496	39	BBS9	1	1
KIAA0895	23366	broad.mit.edu	37	7	36396906	36396906	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:36396906C>A	uc003tfd.2	-	c.472G>T	c.(472-474)GTG>TTG	p.V158L	KIAA0895_uc003tfc.2_Missense_Mutation_p.V145L|KIAA0895_uc011kaw.1_Missense_Mutation_p.V7L|KIAA0895_uc003tfb.2_Missense_Mutation_p.V107L|KIAA0895_uc011kax.1_Missense_Mutation_p.V107L|KIAA0895_uc003tfe.2_Missense_Mutation_p.V145L|KIAA0895_uc011kay.1_Missense_Mutation_p.V107L	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	hypothetical protein LOC23366 isoform 1	158											0														0.273585	159.053765	168.849373	58	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36396906	36396906	8504	7	C	A	A	A	221	17	KIAA0895	2	2
GPR141	353345	broad.mit.edu	37	7	37780650	37780650	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:37780650C>A	uc003tfm.1	+	c.655C>A	c.(655-657)CAG>AAG	p.Q219K		NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	219	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3										74				0.193452	146.485894	175.950052	65	271	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37780650	37780650	6923	7	C	A	A	A	273	21	GPR141	2	2
SDK1	221935	broad.mit.edu	37	7	4153708	4153708	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:4153708G>T	uc003smx.2	+	c.3625G>T	c.(3625-3627)GTG>TTG	p.V1209L	SDK1_uc010kso.2_Missense_Mutation_p.V485L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1209	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)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)										0.096591	16.948969	45.646649	17	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4153708	4153708	14454	7	G	T	T	T	520	40	SDK1	1	1
HECW1	23072	broad.mit.edu	37	7	43283518	43283518	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43283518T>A	uc003tid.1	+	c.14T>A	c.(13-15)CTG>CAG	p.L5Q	HECW1_uc011kbi.1_Missense_Mutation_p.L5Q|HECW1_uc003tie.1_Intron	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	5					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				0.274194	147.137302	155.685719	51	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43283518	43283518	7325	7	T	A	A	A	715	55	HECW1	3	3
MYO1G	64005	broad.mit.edu	37	7	45011815	45011815	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45011815C>G	uc003tmh.2	-	c.628G>C	c.(628-630)GGC>CGC	p.G210R	MYO1G_uc003tmg.2_5'UTR|MYO1G_uc010kym.2_Missense_Mutation_p.G95R|MYO1G_uc003tmi.1_Missense_Mutation_p.G122R|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	210	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|pancreas(1)	3														0.201005	103.387326	119.923216	40	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45011815	45011815	10469	7	C	G	G	G	312	24	MYO1G	3	3
ABCA13	154664	broad.mit.edu	37	7	48452087	48452087	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48452087G>T	uc003toq.2	+	c.12366G>T	c.(12364-12366)AAG>AAT	p.K4122N	ABCA13_uc010kys.1_Missense_Mutation_p.K1196N|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4122					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.177083	67.320496	86.19519	34	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48452087	48452087	32	7	G	T	T	T	451	35	ABCA13	2	2
DDC	1644	broad.mit.edu	37	7	50596906	50596906	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:50596906C>A	uc003tpf.3	-	c.570G>T	c.(568-570)CAG>CAT	p.Q190H	DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Missense_Mutation_p.Q190H	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	190					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)									0.340694	310.719964	317.822338	108	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50596906	50596906	4496	7	C	A	A	A	311	24	DDC	2	2
COBL	23242	broad.mit.edu	37	7	51096651	51096651	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:51096651C>A	uc003tps.2	-	c.2313G>T	c.(2311-2313)AAG>AAT	p.K771N	COBL_uc003tpr.3_Missense_Mutation_p.K714N|COBL_uc011kcl.1_Missense_Mutation_p.K714N|COBL_uc003tpp.3_Missense_Mutation_p.K500N|COBL_uc003tpq.3_Missense_Mutation_p.K655N|COBL_uc003tpo.3_Missense_Mutation_p.K256N	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	714										ovary(2)|skin(1)	3	Glioma(55;0.08)					NSCLC(189;2119 2138 12223 30818 34679)								0.315068	130.69335	135.137539	46	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51096651	51096651	3791	7	C	A	A	A	259	20	COBL	2	2
COBL	23242	broad.mit.edu	37	7	51111277	51111277	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:51111277C>A	uc003tps.2	-	c.1380G>T	c.(1378-1380)ACG>ACT	p.T460T	COBL_uc003tpr.3_Silent_p.T403T|COBL_uc011kcl.1_Silent_p.T403T|COBL_uc010kzc.2_Silent_p.T403T|COBL_uc003tpp.3_Silent_p.T189T|COBL_uc003tpq.3_Silent_p.T344T	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	403										ovary(2)|skin(1)	3	Glioma(55;0.08)					NSCLC(189;2119 2138 12223 30818 34679)								0.317919	154.173367	159.266769	55	118	KEEP	---	---	---	---	capture		Silent	SNP	51111277	51111277	3791	7	C	A	A	A	392	31	COBL	1	1
PDGFA	5154	broad.mit.edu	37	7	540753	540753	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:540753C>A	uc003sit.1	-	c.622G>T	c.(622-624)GGT>TGT	p.G208C	PDGFA_uc003sir.2_Nonsense_Mutation_p.G194*|PDGFA_uc003sis.2_Missense_Mutation_p.D194Y	NM_033023	NP_148983	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha isoform 2	194					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity				0		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)						56				0.097421	23.024063	79.643465	34	315	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	540753	540753	12078	7	C	A	A	A	286	22	PDGFA	2	2
VSTM2A	222008	broad.mit.edu	37	7	54612473	54612473	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:54612473G>T	uc003tqc.3	+	c.238G>T	c.(238-240)GGC>TGC	p.G80C	VSTM2A_uc010kze.2_Missense_Mutation_p.G80C|VSTM2A_uc010kzf.2_Missense_Mutation_p.G80C	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2	80	Ig-like V-type.					extracellular region					0			STAD - Stomach adenocarcinoma(5;0.0525)											0.333333	26.770968	27.432705	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54612473	54612473	17797	7	G	T	T	T	507	39	VSTM2A	1	1
VSTM2A	222008	broad.mit.edu	37	7	54617601	54617601	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:54617601A>T	uc003tqc.3	+	c.372A>T	c.(370-372)TTA>TTT	p.L124F	VSTM2A_uc010kze.2_Missense_Mutation_p.L124F|VSTM2A_uc010kzf.2_Missense_Mutation_p.L124F	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2	124	Ig-like V-type.					extracellular region					0			STAD - Stomach adenocarcinoma(5;0.0525)											0.220339	31.338445	35.593732	13	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54617601	54617601	17797	7	A	T	T	T	206	16	VSTM2A	3	3
ZNF713	349075	broad.mit.edu	37	7	55991322	55991322	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:55991322G>T	uc003tra.1	+	c.237G>T	c.(235-237)GAG>GAT	p.E79D	MRPS17_uc003trb.2_Missense_Mutation_p.E66D|ZNF713_uc003trc.1_Missense_Mutation_p.E66D	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	zinc finger protein 713	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)											0.234043	26.699477	29.742655	11	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55991322	55991322	18713	7	G	T	T	T	451	35	ZNF713	2	2
RABGEF1	27342	broad.mit.edu	37	7	66264318	66264318	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:66264318G>T	uc011kee.1	+	c.779G>T	c.(778-780)CGC>CTC	p.R260L	RABGEF1_uc003tvf.2_Missense_Mutation_p.R119L|RABGEF1_uc003tvg.2_Missense_Mutation_p.R54L|RABGEF1_uc010lag.2_Missense_Mutation_p.R246L|RABGEF1_uc003tvh.2_Missense_Mutation_p.R246L|RABGEF1_uc003tvi.2_Missense_Mutation_p.R80L	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	463	VPS9.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1														0.283951	69.34233	72.70655	23	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66264318	66264318	13425	7	G	T	T	T	494	38	RABGEF1	1	1
SEMA3A	10371	broad.mit.edu	37	7	83640407	83640407	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:83640407T>C	uc003uhz.2	-	c.926A>G	c.(925-927)CAG>CGG	p.Q309R		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	309	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4														0.28125	85.037329	89.202542	27	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83640407	83640407	14510	7	T	C	C	C	702	54	SEMA3A	4	4
GRM3	2913	broad.mit.edu	37	7	86415735	86415735	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:86415735C>T	uc003uid.2	+	c.627C>T	c.(625-627)AAC>AAT	p.N209N	GRM3_uc010lef.2_Silent_p.N207N|GRM3_uc010leg.2_Silent_p.N81N|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	209	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)								0.134146	34.440109	55.728895	22	142	KEEP	---	---	---	---	capture		Silent	SNP	86415735	86415735	7077	7	C	T	T	T	259	20	GRM3	2	2
CROT	54677	broad.mit.edu	37	7	87011391	87011391	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87011391G>T	uc003uiu.2	+	c.1148G>T	c.(1147-1149)GGT>GTT	p.G383V	CROT_uc003uit.2_Missense_Mutation_p.G355V	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	355					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)									0.397849	109.353078	110.202906	37	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87011391	87011391	4033	7	G	T	T	T	572	44	CROT	2	2
STEAP4	79689	broad.mit.edu	37	7	87913403	87913403	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87913403C>T	uc003ujs.2	-	c.182G>A	c.(181-183)GGT>GAT	p.G61D	STEAP4_uc010lek.2_Missense_Mutation_p.G61D|STEAP4_uc003ujt.2_Missense_Mutation_p.G61D	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	61					fat cell differentiation|ion transport|iron ion homeostasis|oxidation-reduction process	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)													0.157258	71.864178	99.657643	39	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87913403	87913403	15800	7	C	T	T	T	234	18	STEAP4	2	2
ZNF804B	219578	broad.mit.edu	37	7	88963931	88963931	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:88963931G>T	uc011khi.1	+	c.1635G>T	c.(1633-1635)TGG>TGT	p.W545C		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	545						intracellular	zinc ion binding			ovary(5)|pancreas(2)	7	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)											0.298611	111.453375	116.683728	43	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88963931	88963931	18769	7	G	T	T	T	559	43	ZNF804B	2	2
SMURF1	57154	broad.mit.edu	37	7	98633309	98633309	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:98633309A>C	uc003upu.1	-	c.1918T>G	c.(1918-1920)TTG>GTG	p.L640V	SMURF1_uc003upv.1_Missense_Mutation_p.L614V|SMURF1_uc003upt.2_Missense_Mutation_p.L614V|TRRAP_uc003ups.2_Non-coding_Transcript	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	640	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)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)							444				0.113636	9.58469	22.546583	10	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98633309	98633309	15319	7	A	C	C	C	37	3	SMURF1	4	4
RGS22	26166	broad.mit.edu	37	8	101051202	101051202	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101051202T>C	uc003yjb.1	-	c.2123A>G	c.(2122-2124)TAC>TGC	p.Y708C	RGS22_uc003yja.1_Missense_Mutation_p.Y527C|RGS22_uc003yjc.1_Missense_Mutation_p.Y696C|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	708					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|breast(1)|central_nervous_system(1)	5			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)							790				0.163399	59.618604	76.054112	25	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101051202	101051202	13779	8	T	C	C	C	741	57	RGS22	4	4
RP1L1	94137	broad.mit.edu	37	8	10469886	10469886	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10469886G>T	uc003wtc.2	-	c.1722C>A	c.(1720-1722)CCC>CCA	p.P574P		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	574					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.135747	40.770893	69.30025	30	191	KEEP	---	---	---	---	capture		Silent	SNP	10469886	10469886	14012	8	G	T	T	T	496	39	RP1L1	1	1
RIMS2	9699	broad.mit.edu	37	8	104943527	104943527	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104943527A>G	uc003yls.2	+	c.1615A>G	c.(1615-1617)ATA>GTA	p.I539V	RIMS2_uc003ylp.2_Missense_Mutation_p.I761V|RIMS2_uc003ylw.2_Missense_Mutation_p.I553V|RIMS2_uc003ylq.2_Missense_Mutation_p.I553V|RIMS2_uc003ylr.2_Missense_Mutation_p.I600V|RIMS2_uc003ylt.2_Missense_Mutation_p.I146V	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	823	C2 1.				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			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.094937	14.823661	41.115868	15	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104943527	104943527	13845	8	A	G	G	G	52	4	RIMS2	4	4
ZFPM2	23414	broad.mit.edu	37	8	106814424	106814424	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:106814424A>G	uc003ymd.2	+	c.2114A>G	c.(2113-2115)CAC>CGC	p.H705R	ZFPM2_uc011lhs.1_Missense_Mutation_p.H436R	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	705	C2HC-type 3.				blood coagulation|transcription, DNA-dependent	nucleoplasm	DNA binding|RNA polymerase II transcription factor activity|transcription corepressor activity|transcription repressor activity|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)											0.339806	111.802693	114.134856	35	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106814424	106814424	18248	8	A	G	G	G	78	6	ZFPM2	4	4
SOX7	83595	broad.mit.edu	37	8	10690446	10690446	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10690446C>A	uc011kwz.1	-	c.178G>T	c.(178-180)GTG>TTG	p.V60L	PINX1_uc003wth.2_Missense_Mutation_p.V60L|PINX1_uc003wti.2_Missense_Mutation_p.V60L	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	Error:Variant_position_missing_in_Q9BT81_after_alignment					endoderm formation|negative regulation of cell proliferation|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	promoter binding|transcription repressor activity				0				COAD - Colon adenocarcinoma(149;0.0732)										0.227273	13.363491	14.865173	5	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10690446	10690446	15456	8	C	A	A	A	260	20	SOX7	2	2
RSPO2	340419	broad.mit.edu	37	8	109001368	109001368	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:109001368C>A	uc003yms.2	-	c.199G>T	c.(199-201)GGG>TGG	p.G67W	RSPO2_uc003ymq.2_De_novo_Start_OutOfFrame|RSPO2_uc003ymr.2_Intron	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	67					Wnt receptor signaling pathway	extracellular region	heparin binding			ovary(2)|skin(2)|pancreas(1)|lung(1)	6			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)											0.378261	249.160677	252.154605	87	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109001368	109001368	14190	8	C	A	A	A	312	24	RSPO2	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110478928	110478928	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110478928C>A	uc003yne.2	+	c.8535C>A	c.(8533-8535)CAC>CAA	p.H2845Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2845	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.368421	84.978062	86.135497	28	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110478928	110478928	12397	8	C	A	A	A	233	18	PKHD1L1	2	2
CSMD3	114788	broad.mit.edu	37	8	113246706	113246706	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113246706C>A	uc003ynu.2	-	c.10628G>T	c.(10627-10629)GGG>GTG	p.G3543V	CSMD3_uc003yns.2_Missense_Mutation_p.G2745V|CSMD3_uc003ynt.2_Missense_Mutation_p.G3503V|CSMD3_uc011lhx.1_Missense_Mutation_p.G3374V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3543	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)			0.088685	6.335916	62.239153	29	298	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113246706	113246706	4087	8	C	A	A	A	286	22	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113569119	113569119	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113569119T>A	uc003ynu.2	-	c.4107A>T	c.(4105-4107)CAA>CAT	p.Q1369H	CSMD3_uc003yns.2_Missense_Mutation_p.Q641H|CSMD3_uc003ynt.2_Missense_Mutation_p.Q1329H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q1265H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1369	Extracellular (Potential).|Sushi 7.					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									p.Q1369H(BECKER-Tumor)	2888	TCGA Ovarian(7;0.080)			0.4	182.304099	183.663544	62	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113569119	113569119	4087	8	T	A	A	A	725	56	CSMD3	3	3
CSMD3	114788	broad.mit.edu	37	8	113668510	113668510	+	Silent	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113668510T>A	uc003ynu.2	-	c.2877A>T	c.(2875-2877)TCA>TCT	p.S959S	CSMD3_uc003yns.2_Silent_p.S231S|CSMD3_uc003ynt.2_Silent_p.S919S|CSMD3_uc011lhx.1_Silent_p.S855S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	959	Extracellular (Potential).|CUB 5.					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)			0.10989	20.624742	48.202684	20	162	KEEP	---	---	---	---	capture		Silent	SNP	113668510	113668510	4087	8	T	A	A	A	756	59	CSMD3	3	3
CSMD3	114788	broad.mit.edu	37	8	113988292	113988292	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113988292G>T	uc003ynu.2	-	c.1116C>A	c.(1114-1116)AGC>AGA	p.S372R	CSMD3_uc003ynt.2_Missense_Mutation_p.S332R|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	372	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)			0.146341	49.975387	74.708163	30	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113988292	113988292	4087	8	G	T	T	T	594	46	CSMD3	2	2
BLK	640	broad.mit.edu	37	8	11406563	11406563	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11406563C>A	uc003wty.2	+	c.300C>A	c.(298-300)CTC>CTA	p.L100L	BLK_uc003wtz.2_Silent_p.L29L	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	100	SH3.				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			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)						676				0.2	8.891373	10.563709	4	16	KEEP	---	---	---	---	capture		Silent	SNP	11406563	11406563	1469	8	C	A	A	A	392	31	BLK	1	1
WDYHV1	55093	broad.mit.edu	37	8	124449458	124449458	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124449458G>T	uc003yqn.1	+	c.392G>T	c.(391-393)AGA>ATA	p.R131I	WDYHV1_uc011lij.1_Missense_Mutation_p.R71I|WDYHV1_uc003yqo.1_Non-coding_Transcript	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	131					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			ovary(1)	1														0.15528	44.463684	62.745272	25	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124449458	124449458	17917	8	G	T	T	T	429	33	WDYHV1	2	2
FER1L6	654463	broad.mit.edu	37	8	125110055	125110055	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:125110055C>A	uc003yqw.2	+	c.4814C>A	c.(4813-4815)ACT>AAT	p.T1605N		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1605	C2 6.|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)		STAD - Stomach adenocarcinoma(47;0.00186)											0.408805	211.664018	212.813799	65	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125110055	125110055	6052	8	C	A	A	A	260	20	FER1L6	2	2
ADCY8	114	broad.mit.edu	37	8	131797656	131797656	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:131797656G>T	uc003ytd.3	-	c.3126C>A	c.(3124-3126)GCC>GCA	p.A1042A	ADCY8_uc010mds.2_Silent_p.A911A	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1042	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)		BRCA - Breast invasive adenocarcinoma(115;0.000538)											0.175926	82.252628	103.613058	38	178	KEEP	---	---	---	---	capture		Silent	SNP	131797656	131797656	301	8	G	T	T	T	496	39	ADCY8	1	1
TG	7038	broad.mit.edu	37	8	134125713	134125713	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:134125713C>A	uc003ytw.2	+	c.7620C>A	c.(7618-7620)TAC>TAA	p.Y2540*	TG_uc010mdw.2_Nonsense_Mutation_p.Y1299*|TG_uc011ljb.1_Nonsense_Mutation_p.Y909*|TG_uc011ljc.1_Nonsense_Mutation_p.Y673*	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2540					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)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)						1778				0.423469	261.239037	262.228827	83	113	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	134125713	134125713	16341	8	C	A	A	A	233	18	TG	5	2
FAM135B	51059	broad.mit.edu	37	8	139209901	139209901	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139209901G>A	uc003yuy.2	-	c.681C>T	c.(679-681)TAC>TAT	p.Y227Y	FAM135B_uc003yux.2_Silent_p.Y128Y|FAM135B_uc003yuz.2_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	227										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.186047	63.386264	79.288921	32	140	KEEP	---	---	---	---	capture		Silent	SNP	139209901	139209901	5646	8	G	A	A	A	620	48	FAM135B	2	2
COL22A1	169044	broad.mit.edu	37	8	139824060	139824060	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139824060G>T	uc003yvd.2	-	c.1431C>A	c.(1429-1431)TCC>TCA	p.S477S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	477	Pro-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)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.365672	294.180602	298.432646	98	170	KEEP	---	---	---	---	capture		Silent	SNP	139824060	139824060	3819	8	G	T	T	T	444	35	COL22A1	2	2
JRK	8629	broad.mit.edu	37	8	143746065	143746065	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143746065C>G	uc003ywp.2	-	c.1411G>C	c.(1411-1413)GCT>CCT	p.A471P	JRK_uc003ywo.2_Missense_Mutation_p.A471P|JRK_uc010mew.1_Missense_Mutation_p.K471N	NM_003724	NP_003715			jerky isoform a												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)	Acute lymphoblastic leukemia(644;2.31e-05)												0.333333	9.794423	10.090419	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143746065	143746065	8268	8	C	G	G	G	363	28	JRK	3	3
ARHGEF10	9639	broad.mit.edu	37	8	1893703	1893703	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:1893703C>T	uc003wpr.2	+	c.3279C>T	c.(3277-3279)TCC>TCT	p.S1093S	ARHGEF10_uc003wps.2_Silent_p.S1055S|ARHGEF10_uc010lre.2_Silent_p.S744S	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1118					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)		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)					p.S1093S(TUHR14TKB-Tumor)	2844				0.307692	34.785766	36.071275	12	27	KEEP	---	---	---	---	capture		Silent	SNP	1893703	1893703	908	8	C	T	T	T	288	23	ARHGEF10	1	1
LGI3	203190	broad.mit.edu	37	8	22005801	22005801	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:22005801C>A	uc003xav.2	-	c.1519G>T	c.(1519-1521)GAG>TAG	p.E507*	LGI3_uc010ltu.2_Nonsense_Mutation_p.E483*	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	507	EAR 7.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)										0.240741	27.843072	31.160438	13	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22005801	22005801	9079	8	C	A	A	A	390	30	LGI3	5	2
RHOBTB2	23221	broad.mit.edu	37	8	22868122	22868122	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:22868122C>T	uc003xcp.2	+	c.1758C>T	c.(1756-1758)ACC>ACT	p.T586T	RHOBTB2_uc011kzp.1_Silent_p.T571T|RHOBTB2_uc003xcq.2_Silent_p.T564T	NM_001160036	NP_001153508	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 1	564	BTB 2.				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)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)										0.181452	105.433295	129.074178	45	203	KEEP	---	---	---	---	capture		Silent	SNP	22868122	22868122	13809	8	C	T	T	T	301	24	RHOBTB2	2	2
EBF2	64641	broad.mit.edu	37	8	25744284	25744284	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:25744284C>G	uc003xes.1	-	c.996G>C	c.(994-996)AGG>AGC	p.R332S	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	332	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|transcription regulator activity	p.R332S(1)		ovary(3)	3		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)								0.170543	54.011521	67.240233	22	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25744284	25744284	5067	8	C	G	G	G	233	18	EBF2	3	3
C8orf80	389643	broad.mit.edu	37	8	27927077	27927077	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:27927077C>T	uc003xgm.3	-	c.241G>A	c.(241-243)GGA>AGA	p.G81R		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	speckled-like pattern in the germinal center	81						nucleus	GTP binding|GTPase activity			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.0218)		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)										0.177966	49.499352	61.023253	21	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27927077	27927077	2551	8	C	T	T	T	273	21	C8orf80	2	2
CSMD1	64478	broad.mit.edu	37	8	2966218	2966218	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2966218C>A	uc011kwk.1	-	c.6664G>T	c.(6664-6666)GCC>TCC	p.A2222S	CSMD1_uc011kwj.1_Missense_Mutation_p.A1614S|CSMD1_uc010lrg.2_Missense_Mutation_p.A290S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2222	Extracellular (Potential).|CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.173913	14.768585	19.388666	8	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2966218	2966218	4085	8	C	A	A	A	364	28	CSMD1	2	2
CSMD1	64478	broad.mit.edu	37	8	2967787	2967787	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2967787C>A	uc011kwk.1	-	c.6504G>T	c.(6502-6504)CCG>CCT	p.P2168P	CSMD1_uc011kwj.1_Silent_p.P1560P|CSMD1_uc010lrg.2_Silent_p.P236P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2168	Extracellular (Potential).|CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.171429	12.453818	16.005602	6	29	KEEP	---	---	---	---	capture		Silent	SNP	2967787	2967787	4085	8	C	A	A	A	392	31	CSMD1	1	1
RP1	6101	broad.mit.edu	37	8	55538014	55538014	+	Missense_Mutation	SNP	T	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:55538014T>G	uc003xsd.1	+	c.1572T>G	c.(1570-1572)GAT>GAG	p.D524E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	524					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)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			Colon(91;1014 1389 7634 14542 40420)								0.063063	-1.164251	20.897757	7	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55538014	55538014	14011	8	T	G	G	G	647	50	RP1	4	4
MCPH1	79648	broad.mit.edu	37	8	6338368	6338368	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:6338368C>T	uc003wqi.2	+	c.2107C>T	c.(2107-2109)CGT>TGT	p.R703C		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	703	BRCT 2.					microtubule organizing center				central_nervous_system(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		Colon(95;1448 1467 8277 34473 35819)								0.231481	63.923991	71.053948	25	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6338368	6338368	9787	8	C	T	T	T	351	27	MCPH1	1	1
TRIM55	84675	broad.mit.edu	37	8	67064862	67064863	+	Splice_Site_DNP	DNP	GG	AT	AT			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:67064862_67064863GG>AT	uc003xvv.2	+	c.1236_splice	c.e8+1	p.Q412_splice	TRIM55_uc003xvu.2_Splice_Site_DNP_p.Q412_splice|TRIM55_uc003xvw.2_Splice_Site_DNP_p.Q412_splice|TRIM55_uc003xvx.2_Intron	NM_184085	NP_908973			tripartite motif-containing 55 isoform 1							cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)											0.164634	51.94584	69.43885	27	137	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	67064862	67064863	17075	8	GG	AT	AT	AT	451	35	TRIM55	5	2
NCOA2	10499	broad.mit.edu	37	8	71056877	71056877	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:71056877C>G	uc003xyn.1	-	c.2812G>C	c.(2812-2814)GGA>CGA	p.G938R	NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	938					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)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)							476				0.151261	30.702798	44.542777	18	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71056877	71056877	10628	8	C	G	G	G	312	24	NCOA2	3	3
TRAM1	23471	broad.mit.edu	37	8	71512306	71512306	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:71512306T>A	uc003xyo.1	-	c.135A>T	c.(133-135)AAA>AAT	p.K45N	TRAM1_uc011lfc.1_Missense_Mutation_p.K14N	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	45	Helical; (Potential).				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			Ovarian(85;984 1334 5116 12432 40638)								0.356436	102.604388	104.423797	36	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71512306	71512306	16995	8	T	A	A	A	725	56	TRAM1	3	3
MSC	9242	broad.mit.edu	37	8	72754932	72754932	+	Silent	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72754932A>T	uc003xyx.1	-	c.585T>A	c.(583-585)GTT>GTA	p.V195V		NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	195					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulator activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)											0.340347	738.681827	756.883912	275	533	KEEP	---	---	---	---	capture		Silent	SNP	72754932	72754932	10261	8	A	T	T	T	2	1	MSC	3	3
HNF4G	3174	broad.mit.edu	37	8	76472700	76472700	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:76472700C>A	uc003yar.2	+	c.1215C>A	c.(1213-1215)ATC>ATA	p.I405I	HNF4G_uc003yaq.2_Silent_p.I368I	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	368					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)											0.119048	22.471169	46.424676	20	148	KEEP	---	---	---	---	capture		Silent	SNP	76472700	76472700	7546	8	C	A	A	A	408	32	HNF4G	2	2
ZFHX4	79776	broad.mit.edu	37	8	77690476	77690476	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77690476C>A	uc003yav.2	+	c.3048C>A	c.(3046-3048)CCC>CCA	p.P1016P	ZFHX4_uc003yau.1_Silent_p.P1042P|ZFHX4_uc003yaw.1_Silent_p.P1016P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1016					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			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.342593	330.243932	337.328267	111	213	KEEP	---	---	---	---	capture		Silent	SNP	77690476	77690476	18223	8	C	A	A	A	288	23	ZFHX4	1	1
ZFHX4	79776	broad.mit.edu	37	8	77766770	77766770	+	Missense_Mutation	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77766770T>C	uc003yav.2	+	c.7478T>C	c.(7477-7479)ATG>ACG	p.M2493T	ZFHX4_uc003yau.1_Missense_Mutation_p.M2538T|ZFHX4_uc003yaw.1_Missense_Mutation_p.M2493T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2493					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			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.136628	74.495922	118.466999	47	297	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77766770	77766770	18223	8	T	C	C	C	663	51	ZFHX4	4	4
ZFHX4	79776	broad.mit.edu	37	8	77775904	77775904	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77775904G>C	uc003yav.2	+	c.9819G>C	c.(9817-9819)CAG>CAC	p.Q3273H		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3269	Potential.				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			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.388889	51.94333	52.332318	14	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77775904	77775904	18223	8	G	C	C	C	464	36	ZFHX4	3	3
CNGB3	54714	broad.mit.edu	37	8	87645122	87645122	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87645122C>A	uc003ydx.2	-	c.1179_splice	c.e11-1	p.E393_splice	CNGB3_uc010maj.2_Splice_Site_SNP_p.E255_splice	NM_019098	NP_061971			cyclic nucleotide gated channel beta 3						signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3														0.301724	97.27639	101.350828	35	81	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	87645122	87645122	3739	8	C	A	A	A	312	24	CNGB3	5	2
HEMGN	55363	broad.mit.edu	37	9	100693342	100693342	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:100693342C>A	uc004axy.2	-	c.335G>T	c.(334-336)GGG>GTG	p.G112V	HEMGN_uc004axz.2_Missense_Mutation_p.G112V	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	112					cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)												0.094118	4.786355	32.93746	16	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100693342	100693342	7333	9	C	A	A	A	286	22	HEMGN	2	2
COL15A1	1306	broad.mit.edu	37	9	101817383	101817383	+	Splice_Site_SNP	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101817383G>T	uc004azb.1	+	c.3032_splice	c.e33-1	p.G1011_splice		NM_001855	NP_001846			alpha 1 type XV collagen precursor						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)												0.075949	-8.904097	64.026393	30	365	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	101817383	101817383	3810	9	G	T	T	T	455	35	COL15A1	5	2
PPP3R2	5535	broad.mit.edu	37	9	104356802	104356802	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104356802G>T	uc004bbr.2	-	c.411C>A	c.(409-411)GAC>GAA	p.D137E	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	134	EF-hand 4.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)					16				0.100671	12.112175	35.833682	15	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104356802	104356802	12837	9	G	T	T	T	620	48	PPP3R2	2	2
OR13C4	138804	broad.mit.edu	37	9	107288712	107288712	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107288712G>T	uc011lvn.1	-	c.779C>A	c.(778-780)GCA>GAA	p.A260E		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.08	-0.899196	30.620932	14	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107288712	107288712	11342	9	G	T	T	T	598	46	OR13C4	2	2
OR13C5	138799	broad.mit.edu	37	9	107361248	107361248	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107361248C>A	uc011lvp.1	-	c.447G>T	c.(445-447)TGG>TGT	p.W149C		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C,	149	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3														0.104247	17.539101	57.908268	27	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107361248	107361248	11343	9	C	A	A	A	390	30	OR13C5	2	2
OR13C2	392376	broad.mit.edu	37	9	107367610	107367610	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107367610T>A	uc011lvq.1	-	c.299A>T	c.(298-300)CAG>CTG	p.Q100L		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	100	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.104046	19.519853	46.508697	18	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107367610	107367610	11340	9	T	A	A	A	715	55	OR13C2	3	3
SLC44A1	23446	broad.mit.edu	37	9	108136969	108136969	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:108136969G>T	uc004bcn.2	+	c.1585G>T	c.(1585-1587)GTG>TTG	p.V529L	SLC44A1_uc010mtk.1_Missense_Mutation_p.V529L|SLC44A1_uc004bco.1_Missense_Mutation_p.V321L	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	529	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)									0.238938	145.324331	159.400972	54	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108136969	108136969	15132	9	G	T	T	T	468	36	SLC44A1	2	2
MUSK	4593	broad.mit.edu	37	9	113563158	113563158	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113563158C>A	uc004bey.2	+	c.2500C>A	c.(2500-2502)CTC>ATC	p.L834I	MUSK_uc004bez.1_Missense_Mutation_p.L414I	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	834	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				0.256098	48.72477	53.158745	21	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113563158	113563158	10383	9	C	A	A	A	416	32	MUSK	2	2
C9orf84	158401	broad.mit.edu	37	9	114538232	114538232	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:114538232G>T	uc004bfr.2	-	c.89C>A	c.(88-90)ACC>AAC	p.T30N	C9orf84_uc011lwt.1_Non-coding_Transcript|C9orf84_uc004bfs.1_Missense_Mutation_p.T94N	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	30										ovary(2)	2														0.230769	50.108542	55.289658	18	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114538232	114538232	2616	9	G	T	T	T	572	44	C9orf84	2	2
COL27A1	85301	broad.mit.edu	37	9	117027389	117027389	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117027389C>T	uc011lxl.1	+	c.3338C>T	c.(3337-3339)CCT>CTT	p.P1113L	COL27A1_uc004bii.2_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	1113	Pro-rich.|Collagen-like 8.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)	3														0.214592	132.733496	150.246834	50	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117027389	117027389	3823	9	C	T	T	T	312	24	COL27A1	2	2
DFNB31	25861	broad.mit.edu	37	9	117166348	117166348	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117166348G>T	uc004biz.3	-	c.2246C>A	c.(2245-2247)ACG>AAG	p.T749K	DFNB31_uc004bix.2_Missense_Mutation_p.T398K|DFNB31_uc004biy.3_Missense_Mutation_p.T366K|DFNB31_uc004bja.3_Missense_Mutation_p.T748K	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	749					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														0.333333	72.330905	74.014097	23	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117166348	117166348	4634	9	G	T	T	T	520	40	DFNB31	1	1
TNC	3371	broad.mit.edu	37	9	117826978	117826978	+	Nonsense_Mutation	SNP	A	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117826978A>C	uc004bjj.3	-	c.3435T>G	c.(3433-3435)TAT>TAG	p.Y1145*	TNC_uc010mvf.2_Nonsense_Mutation_p.Y1145*	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1145	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|ovary(1)	5														0.096847	49.307506	121.639933	43	401	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	117826978	117826978	16811	9	A	C	C	C	102	8	TNC	5	4
TTLL11	158135	broad.mit.edu	37	9	124751501	124751501	+	Silent	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:124751501C>G	uc011lyl.1	-	c.1512G>C	c.(1510-1512)ACG>ACC	p.T504T	TTLL11_uc004blr.2_Non-coding_Transcript|TTLL11_uc011lym.1_Silent_p.T181T|TTLL11_uc004blt.1_Silent_p.T504T|TTLL11_uc004blu.1_3'UTR	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	504	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity				0														0.084337	6.689644	50.359463	21	228	KEEP	---	---	---	---	capture		Silent	SNP	124751501	124751501	17279	9	C	G	G	G	288	23	TTLL11	3	3
OR1J4	26219	broad.mit.edu	37	9	125281931	125281931	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125281931A>T	uc011lyw.1	+	c.512A>T	c.(511-513)GAC>GTC	p.D171V		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J,	171	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.111888	17.602242	38.880256	16	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125281931	125281931	11367	9	A	T	T	T	130	10	OR1J4	3	3
OR1N2	138882	broad.mit.edu	37	9	125315646	125315646	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125315646C>G	uc011lyx.1	+	c.198C>G	c.(196-198)ATC>ATG	p.I66M		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	66	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.08547	20.520225	61.278964	20	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125315646	125315646	11376	9	C	G	G	G	369	29	OR1N2	3	3
RALGPS1	9649	broad.mit.edu	37	9	129974501	129974501	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:129974501G>T	uc004bqo.1	+	c.1339G>T	c.(1339-1341)GGG>TGG	p.G447W	RALGPS1_uc011mac.1_Missense_Mutation_p.G405W|RALGPS1_uc004bqq.3_Missense_Mutation_p.G405W	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	447	Required for stimulation of nucleotide exchange by RALA.|PH.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			ovary(1)	1														0.114943	9.492854	22.202499	10	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129974501	129974501	13477	9	G	T	T	T	455	35	RALGPS1	2	2
GARNL3	84253	broad.mit.edu	37	9	130073925	130073925	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130073925C>G	uc011mae.1	+	c.230C>G	c.(229-231)GCC>GGC	p.A77G	GARNL3_uc011mad.1_Missense_Mutation_p.A55G	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	77					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			central_nervous_system(1)|skin(1)	2														0.096386	16.442778	43.737583	16	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130073925	130073925	6505	9	C	G	G	G	338	26	GARNL3	3	3
GARNL3	84253	broad.mit.edu	37	9	130101923	130101923	+	Splice_Site_SNP	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130101923G>A	uc011mae.1	+	c.1029_splice	c.e13-1	p.R343_splice	GARNL3_uc011mad.1_Splice_Site_SNP_p.R321_splice|GARNL3_uc004bqt.1_Splice_Site_SNP_p.R124_splice	NM_032293	NP_115669			GTPase activating Rap/RanGAP domain-like 3						regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			central_nervous_system(1)|skin(1)	2														0.113636	27.866162	53.785517	20	156	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	130101923	130101923	6505	9	G	A	A	A	455	35	GARNL3	5	2
STXBP1	6812	broad.mit.edu	37	9	130420719	130420719	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130420719C>G	uc004brk.2	+	c.235C>G	c.(235-237)CCA>GCA	p.P79A	STXBP1_uc004brl.2_Missense_Mutation_p.P79A	NM_003165	NP_003156	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform a	79					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding				0														0.116848	67.677881	120.800145	43	325	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130420719	130420719	15872	9	C	G	G	G	390	30	STXBP1	3	3
LAMC3	10319	broad.mit.edu	37	9	133914297	133914297	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:133914297G>T	uc004caa.1	+	c.1023G>T	c.(1021-1023)GAG>GAT	p.E341D		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	341	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)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)										0.094118	3.484643	31.478916	16	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133914297	133914297	8939	9	G	T	T	T	438	34	LAMC3	2	2
COL5A1	1289	broad.mit.edu	37	9	137646119	137646119	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137646119G>T	uc004cfe.2	+	c.1774G>T	c.(1774-1776)GGT>TGT	p.G592C		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	592	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)|skin(1)	8		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)										0.36	123.076586	125.217363	45	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137646119	137646119	3834	9	G	T	T	T	559	43	COL5A1	2	2
COL5A1	1289	broad.mit.edu	37	9	137658860	137658860	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137658860G>T	uc004cfe.2	+	c.2148G>T	c.(2146-2148)GAG>GAT	p.E716D		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	716	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)|skin(1)	8		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)										0.3	31.983435	33.413539	12	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137658860	137658860	3834	9	G	T	T	T	438	34	COL5A1	2	2
SDCCAG3	10807	broad.mit.edu	37	9	139301896	139301896	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139301896G>A	uc004chi.2	-	c.520C>T	c.(520-522)CTG>TTG	p.L174L	SDCCAG3_uc004chj.2_Silent_p.L151L|SDCCAG3_uc004chk.2_Silent_p.L101L	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	174						cytoplasm					0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)										0.219512	22.553923	25.524363	9	32	KEEP	---	---	---	---	capture		Silent	SNP	139301896	139301896	14443	9	G	A	A	A	451	35	SDCCAG3	2	2
C9orf140	89958	broad.mit.edu	37	9	139959973	139959973	+	Splice_Site_SNP	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:139959973C>T	uc011men.1	-	c.831_splice	c.e3+1	p.A277_splice		NM_178448	NP_848543			tumor specificity and mitosis phase-dependent							cytoplasm|nucleus					0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;3.02e-05)|Epithelial(140;0.000499)										0.123077	9.676559	18.694604	8	57	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	139959973	139959973	2573	9	C	T	T	T	247	19	C9orf140	5	1
FREM1	158326	broad.mit.edu	37	9	14784421	14784421	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:14784421C>A	uc003zlm.2	-	c.4389G>T	c.(4387-4389)CAG>CAT	p.Q1463H	FREM1_uc010mic.2_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1463	CSPG 10.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)										0.325397	109.728574	113.138528	41	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14784421	14784421	6291	9	C	A	A	A	415	32	FREM1	2	2
C9orf93	203238	broad.mit.edu	37	9	15745522	15745522	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:15745522A>C	uc011lmu.1	+	c.2588A>C	c.(2587-2589)AAG>ACG	p.K863T	C9orf93_uc003zmd.2_Missense_Mutation_p.K855T|C9orf93_uc003zme.2_Missense_Mutation_p.K770T|C9orf93_uc003zmf.1_Missense_Mutation_p.K163T	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	855											0				GBM - Glioblastoma multiforme(50;4.84e-07)										0.267045	283.490329	300.74161	94	258	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15745522	15745522	2622	9	A	C	C	C	39	3	C9orf93	4	4
IFNA2	3440	broad.mit.edu	37	9	21384955	21384955	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21384955C>A	uc003zpb.2	-	c.374G>T	c.(373-375)GGG>GTG	p.G125V		NM_000605	NP_000596	P01563	IFNA2_HUMAN	interferon, alpha 2 precursor	125					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|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			breast(1)	1				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)				p.G125K(KYSE270-Tumor)	41				0.103746	23.031904	77.206467	36	311	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21384955	21384955	7838	9	C	A	A	A	286	22	IFNA2	2	2
C9orf72	203228	broad.mit.edu	37	9	27556699	27556699	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:27556699C>T	uc003zqq.2	-	c.951G>A	c.(949-951)CAG>CAA	p.Q317Q		NM_018325	NP_060795	Q96LT7	CI072_HUMAN	hypothetical protein LOC203228 isoform a	317										ovary(3)|central_nervous_system(1)	4		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)										0.080745	1.382943	59.089478	26	296	KEEP	---	---	---	---	capture		Silent	SNP	27556699	27556699	2611	9	C	T	T	T	415	32	C9orf72	2	2
KIAA0020	9933	broad.mit.edu	37	9	2820099	2820099	+	Splice_Site_SNP	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:2820099C>A	uc003zhp.1	-	c.1189_splice	c.e13-1	p.G397_splice	KIAA0020_uc010mhc.1_Splice_Site_SNP_p.G396_splice|KIAA0020_uc003zhq.1_Splice_Site_SNP_p.G396_splice	NM_014878	NP_055693			KIAA0020 protein							endoplasmic reticulum|nucleolus	RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(50;0.0319)										0.125	9.453502	18.249235	8	56	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	2820099	2820099	8458	9	C	A	A	A	312	24	KIAA0020	5	2
TOPORS	10210	broad.mit.edu	37	9	32544246	32544246	+	Missense_Mutation	SNP	C	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32544246C>G	uc003zrb.2	-	c.277G>C	c.(277-279)GTA>CTA	p.V93L	TOPORS_uc003zrc.2_Missense_Mutation_p.V26L	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	93	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent|visual perception	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)										0.087719	11.690344	41.087706	15	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32544246	32544246	16912	9	C	G	G	G	260	20	TOPORS	3	3
TAF1L	138474	broad.mit.edu	37	9	32633786	32633787	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32633786_32633787CC>AA	uc003zrg.1	-	c.1791_1792GG>TT	c.(1789-1794)CAGGGT>CATTGT	p.597_598QG>HC		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	597_598					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			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)						234				0.240566	258.27925	284.292548	102	322	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	32633786	32633787	16044	9	CC	AA	AA	AA	286	22	TAF1L	2	2
C9orf131	138724	broad.mit.edu	37	9	35045842	35045842	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35045842C>A	uc003zvw.2	+	c.3216C>A	c.(3214-3216)CCC>CCA	p.P1072P	C9orf131_uc003zvu.2_Silent_p.P1024P|C9orf131_uc003zvv.2_Silent_p.P999P|C9orf131_uc003zvx.2_Silent_p.P1037P	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	1072											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)											0.253049	199.367462	217.536904	83	245	KEEP	---	---	---	---	capture		Silent	SNP	35045842	35045842	2570	9	C	A	A	A	275	22	C9orf131	2	2
IGFBPL1	347252	broad.mit.edu	37	9	38414155	38414155	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:38414155C>A	uc004aba.2	-	c.506G>T	c.(505-507)GGG>GTG	p.G169V		NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like	169	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding				0				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)										0.157303	43.965986	63.854457	28	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38414155	38414155	7886	9	C	A	A	A	286	22	IGFBPL1	2	2
FAM75A3	727830	broad.mit.edu	37	9	40702834	40702834	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:40702834A>C	uc010mmj.2	+	c.491A>C	c.(490-492)GAT>GCT	p.D164A		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	hypothetical protein LOC727830	164	Pro-rich.					integral to membrane				ovary(2)	2				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.177824	223.129756	269.805475	85	393	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40702834	40702834	5845	9	A	C	C	C	156	12	FAM75A3	4	4
FAM75A3	727830	broad.mit.edu	37	9	40702836	40702836	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:40702836C>T	uc010mmj.2	+	c.493C>T	c.(493-495)CTG>TTG	p.L165L		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	hypothetical protein LOC727830	165	Pro-rich.					integral to membrane				ovary(2)	2				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.179872	188.700764	233.723289	84	383	KEEP	---	---	---	---	capture		Silent	SNP	40702836	40702836	5845	9	C	T	T	T	415	32	FAM75A3	2	2
GLDC	2731	broad.mit.edu	37	9	6534776	6534776	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6534776A>G	uc003zkc.2	-	c.2851T>C	c.(2851-2853)TCC>CCC	p.S951P		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	951					glycine catabolic process|oxidation-reduction process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)									0.090909	4.697243	15.833244	6	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6534776	6534776	6701	9	A	G	G	G	143	11	GLDC	4	4
GNAQ	2776	broad.mit.edu	37	9	80537207	80537207	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:80537207C>A	uc004akw.2	-	c.191G>T	c.(190-192)GGG>GTG	p.G64V		NM_002072	NP_002063	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein),	64					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			eye(128)|skin(44)|meninges(11)|ovary(1)|kidney(1)	185										84				0.201794	95.35651	113.791458	45	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80537207	80537207	6778	9	C	A	A	A	286	22	GNAQ	2	2
PTPRD	5789	broad.mit.edu	37	9	8460541	8460541	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8460541G>T	uc003zkk.2	-	c.3745C>A	c.(3745-3747)CCC>ACC	p.P1249T	PTPRD_uc003zkp.2_Missense_Mutation_p.P838T|PTPRD_uc003zkq.2_Missense_Mutation_p.P838T|PTPRD_uc003zkr.2_Missense_Mutation_p.P833T|PTPRD_uc003zks.2_Missense_Mutation_p.P828T|PTPRD_uc003zkl.2_Missense_Mutation_p.P1240T|PTPRD_uc003zkm.2_Missense_Mutation_p.P1236T|PTPRD_uc003zkn.2_Missense_Mutation_p.P838T|PTPRD_uc003zko.2_Missense_Mutation_p.P835T	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1249	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)		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)						1253	TSP Lung(15;0.13)			0.086331	2.387864	26.491767	12	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8460541	8460541	13256	9	G	T	T	T	559	43	PTPRD	2	2
KIF27	55582	broad.mit.edu	37	9	86506225	86506225	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86506225T>A	uc004ana.2	-	c.1794A>T	c.(1792-1794)AGA>AGT	p.R598S	KIF27_uc010mpw.2_Missense_Mutation_p.R598S|KIF27_uc010mpx.2_Missense_Mutation_p.R598S	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	598					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.080882	3.849563	52.526474	22	250	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86506225	86506225	8607	9	T	A	A	A	751	58	KIF27	3	3
C9orf64	84267	broad.mit.edu	37	9	86570403	86570403	+	Nonsense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:86570403C>A	uc004anb.2	-	c.490G>T	c.(490-492)GGA>TGA	p.G164*	C9orf64_uc004anc.2_Nonsense_Mutation_p.G23*	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	hypothetical protein LOC84267	164											0														0.26087	129.313756	138.838475	48	136	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	86570403	86570403	2605	9	C	A	A	A	273	21	C9orf64	5	2
NFIL3	4783	broad.mit.edu	37	9	94172835	94172835	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:94172835C>A	uc004arh.2	-	c.182G>T	c.(181-183)CGG>CTG	p.R61L		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	61					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)								0.255624	348.915117	375.355723	125	364	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94172835	94172835	10773	9	C	A	A	A	299	23	NFIL3	1	1
OGN	4969	broad.mit.edu	37	9	95165620	95165621	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95165620_95165621GG>TT	uc011ltx.1	-	c.123_124CC>AA	c.(121-126)ACCCAG>ACAAAG	p.Q42K	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asa.2_Missense_Mutation_p.Q24K|OGN_uc004asb.2_Missense_Mutation_p.Q24K	NM_033014	NP_148935	P20774	MIME_HUMAN	osteoglycin preproprotein	24						extracellular space|proteinaceous extracellular matrix	growth factor activity				0														0.244186	54.818996	59.959929	21	65	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	95165620	95165621	11251	9	GG	TT	TT	TT	611	47	OGN	2	2
TRMT2B	79979	broad.mit.edu	37	X	100278506	100278506	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100278506C>T	uc004egq.2	-	c.709G>A	c.(709-711)GGG>AGG	p.G237R	TRMT2B_uc004egp.2_Non-coding_Transcript|TRMT2B_uc004egr.2_Missense_Mutation_p.G237R|TRMT2B_uc004egs.2_Missense_Mutation_p.G237R|TRMT2B_uc004egt.2_Missense_Mutation_p.G237R|TRMT2B_uc004egu.2_Missense_Mutation_p.G118R|TRMT2B_uc004egv.2_Missense_Mutation_p.G192R	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	237							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1														0.384615	212.331813	214.305701	65	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100278506	100278506	17116	23	C	T	T	T	312	24	TRMT2B	2	2
TEX13B	56156	broad.mit.edu	37	X	107224574	107224574	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107224574G>A	uc004enn.1	-	c.675C>T	c.(673-675)CTC>CTT	p.L225L		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	225										ovary(1)	1														0.137037	55.008302	89.34052	37	233	KEEP	---	---	---	---	capture		Silent	SNP	107224574	107224574	16304	23	G	A	A	A	470	37	TEX13B	1	1
TEX13B	56156	broad.mit.edu	37	X	107225113	107225113	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107225113T>A	uc004enn.1	-	c.245A>T	c.(244-246)CAG>CTG	p.Q82L		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	82										ovary(1)	1														0.428571	261.76619	262.638435	84	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107225113	107225113	16304	23	T	A	A	A	715	55	TEX13B	3	3
ARHGAP6	395	broad.mit.edu	37	X	11187673	11187673	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:11187673G>T	uc004cup.1	-	c.1761C>A	c.(1759-1761)ATC>ATA	p.I587I	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Silent_p.I587I|ARHGAP6_uc004cum.1_Silent_p.I384I|ARHGAP6_uc004cun.1_Silent_p.I407I|ARHGAP6_uc010neb.1_Silent_p.I409I|ARHGAP6_uc011mif.1_Silent_p.I384I	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	587	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2														0.368421	118.507367	120.246977	42	72	KEEP	---	---	---	---	capture		Silent	SNP	11187673	11187673	901	23	G	T	T	T	577	45	ARHGAP6	2	2
CXorf61	203413	broad.mit.edu	37	X	115593113	115593113	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:115593113G>T	uc004eqj.1	-	c.137C>A	c.(136-138)TCT>TAT	p.S46Y		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	46	Extracellular (Potential).					integral to membrane|plasma membrane					0														0.431193	131.69336	132.145939	47	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115593113	115593113	4280	23	G	T	T	T	429	33	CXorf61	2	2
LONRF3	79836	broad.mit.edu	37	X	118147138	118147138	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118147138G>T	uc004eqw.2	+	c.1948G>T	c.(1948-1950)GAC>TAC	p.D650Y	LONRF3_uc004eqx.2_Missense_Mutation_p.D609Y|LONRF3_uc004eqy.2_Non-coding_Transcript|LONRF3_uc004eqz.2_Missense_Mutation_p.D394Y	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	650	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2														0.481481	77.341387	77.357757	26	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118147138	118147138	9268	23	G	T	T	T	481	37	LONRF3	1	1
ATP1B4	23439	broad.mit.edu	37	X	119512560	119512560	+	Missense_Mutation	SNP	A	G	G			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:119512560A>G	uc004esr.2	+	c.844A>G	c.(844-846)ATC>GTC	p.I282V	ATP1B4_uc004esq.2_Missense_Mutation_p.I278V|ATP1B4_uc011mtx.1_Missense_Mutation_p.I247V|ATP1B4_uc011mty.1_Missense_Mutation_p.I239V	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	ATPase, (Na+)/K+ transporting, beta 4	282	Perinuclear space (Potential).				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			ovary(1)|skin(1)	2														0.431373	351.596267	352.644893	110	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119512560	119512560	1154	23	A	G	G	G	104	8	ATP1B4	4	4
STAG2	10735	broad.mit.edu	37	X	123156495	123156495	+	Missense_Mutation	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123156495A>T	uc004eua.2	+	c.18A>T	c.(16-18)GAA>GAT	p.E6D	STAG2_uc004etz.3_Missense_Mutation_p.E6D|STAG2_uc004eub.2_Missense_Mutation_p.E6D|STAG2_uc004euc.2_Missense_Mutation_p.E6D|STAG2_uc004eud.2_Missense_Mutation_p.E6D|STAG2_uc004eue.2_Missense_Mutation_p.E6D	NM_001042749	NP_001036214	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														0.3125	38.404347	39.908502	15	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123156495	123156495	15761	23	A	T	T	T	11	1	STAG2	3	3
FHL1	2273	broad.mit.edu	37	X	135288623	135288623	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135288623G>T	uc004ezo.2	+	c.32G>T	c.(31-33)AGG>ATG	p.R11M	FHL1_uc010nrz.2_Missense_Mutation_p.R11M|FHL1_uc004ezm.2_Non-coding_Transcript|FHL1_uc004ezl.2_Missense_Mutation_p.R11M|FHL1_uc004ezq.2_Missense_Mutation_p.R11M|FHL1_uc011mvy.1_Missense_Mutation_p.R11M|FHL1_uc011mvz.1_Missense_Mutation_p.R11M|FHL1_uc004ezn.2_Missense_Mutation_p.R11M|FHL1_uc011mwa.1_Missense_Mutation_p.R40M|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.R27M|FHL1_uc004ezr.2_5'Flank	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	11	C4-type (Potential).				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)													0.392308	301.186328	303.828897	102	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135288623	135288623	6116	23	G	T	T	T	455	35	FHL1	2	2
GPR112	139378	broad.mit.edu	37	X	135429796	135429796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135429796C>T	uc004ezu.1	+	c.3931C>T	c.(3931-3933)CAA>TAA	p.Q1311*	GPR112_uc010nsb.1_Nonsense_Mutation_p.Q1106*|GPR112_uc010nsc.1_Nonsense_Mutation_p.Q1078*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1311	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				0.316239	111.62497	115.143278	37	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	135429796	135429796	6903	23	C	T	T	T	273	21	GPR112	5	2
MAGEC1	9947	broad.mit.edu	37	X	140995285	140995285	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140995285C>A	uc004fbt.2	+	c.2095C>A	c.(2095-2097)CTT>ATT	p.L699I	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	699							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.512987	234.767221	234.788184	79	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140995285	140995285	9561	23	C	A	A	A	416	32	MAGEC1	2	2
AFF2	2334	broad.mit.edu	37	X	147743879	147743879	+	Nonsense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:147743879G>T	uc004fcp.2	+	c.631G>T	c.(631-633)GAG>TAG	p.E211*	AFF2_uc004fco.2_Nonsense_Mutation_p.E207*|AFF2_uc004fcq.2_Nonsense_Mutation_p.E207*|AFF2_uc004fcr.2_Nonsense_Mutation_p.E207*|AFF2_uc011mxb.1_Nonsense_Mutation_p.E211*|AFF2_uc004fcs.2_Nonsense_Mutation_p.E207*	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	211					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)													0.463235	373.934534	374.252678	126	146	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	147743879	147743879	358	23	G	T	T	T	429	33	AFF2	5	2
GABRE	2564	broad.mit.edu	37	X	151131077	151131077	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151131077G>A	uc004ffi.2	-	c.381C>T	c.(379-381)TAC>TAT	p.Y127Y	GABRE_uc011myd.1_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_hsa-mir-452|MI0001733_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor,	127	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.073446	-5.462791	27.640621	13	164	KEEP	---	---	---	---	capture		Silent	SNP	151131077	151131077	6421	23	G	A	A	A	516	40	GABRE	1	1
ATP2B3	492	broad.mit.edu	37	X	152814180	152814180	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152814180G>A	uc004fht.1	+	c.1206G>A	c.(1204-1206)TGG>TGA	p.W402*	ATP2B3_uc004fhs.1_Nonsense_Mutation_p.W402*	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	402	Extracellular (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)													0.131868	17.641715	29.620678	12	79	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152814180	152814180	1160	23	G	A	A	A	546	42	ATP2B3	5	2
F8	2157	broad.mit.edu	37	X	154157069	154157069	+	Nonsense_Mutation	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154157069G>A	uc004fmt.2	-	c.4996C>T	c.(4996-4998)CAA>TAA	p.Q1666*		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1666	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				0.083969	1.717627	24.750864	11	120	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	154157069	154157069	5544	23	G	A	A	A	585	45	F8	5	2
RAB39B	116442	broad.mit.edu	37	X	154490316	154490316	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154490316G>T	uc004fne.2	-	c.414C>A	c.(412-414)GCC>GCA	p.A138A		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP 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)													0.516949	206.517737	206.549824	61	57	KEEP	---	---	---	---	capture		Silent	SNP	154490316	154490316	13389	23	G	T	T	T	496	39	RAB39B	1	1
BEND2	139105	broad.mit.edu	37	X	18209221	18209221	+	Silent	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18209221G>T	uc004cyj.3	-	c.1188C>A	c.(1186-1188)GGC>GGA	p.G396G	BEND2_uc010nfb.2_Silent_p.G305G	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	396										ovary(3)|kidney(1)|central_nervous_system(1)	5														0.410959	187.512758	188.512356	60	86	KEEP	---	---	---	---	capture		Silent	SNP	18209221	18209221	1421	23	G	T	T	T	535	42	BEND2	2	2
FAM48B2	170067	broad.mit.edu	37	X	24330389	24330389	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:24330389C>A	uc011mjw.1	-	c.1044G>T	c.(1042-1044)TGG>TGT	p.W348C		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	348											0														0.512821	309.19398	309.221506	100	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24330389	24330389	5796	23	C	A	A	A	286	22	FAM48B2	2	2
PCYT1B	9468	broad.mit.edu	37	X	24597530	24597530	+	Missense_Mutation	SNP	T	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:24597530T>A	uc004dbi.2	-	c.611A>T	c.(610-612)GAC>GTC	p.D204V	PCYT1B_uc004dbk.3_Missense_Mutation_p.D204V|PCYT1B_uc004dbj.2_Missense_Mutation_p.D186V	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	choline phosphate cytidylyltransferase 1 beta	204	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity				0					Choline(DB00122)									0.440994	214.631134	215.113539	71	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24597530	24597530	12032	23	T	A	A	A	754	58	PCYT1B	3	3
DCAF8L1	139425	broad.mit.edu	37	X	27999351	27999351	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27999351G>T	uc004dbx.1	-	c.101C>A	c.(100-102)GCG>GAG	p.A34E		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	34										ovary(3)	3														0.583333	44.760719	44.909178	14	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27999351	27999351	4448	23	G	T	T	T	494	38	DCAF8L1	1	1
ARSF	416	broad.mit.edu	37	X	3002623	3002623	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3002623G>C	uc004cre.1	+	c.746G>C	c.(745-747)CGG>CCG	p.R249P	ARSF_uc004crf.1_Missense_Mutation_p.R249P	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	249						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)												0.296703	74.408151	77.760843	27	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3002623	3002623	1009	23	G	C	C	C	507	39	ARSF	3	3
MXRA5	25878	broad.mit.edu	37	X	3241316	3241316	+	Missense_Mutation	SNP	A	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3241316A>C	uc004crg.3	-	c.2410T>G	c.(2410-2412)TTG>GTG	p.L804V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	804						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.076471	6.663613	37.869549	13	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3241316	3241316	10397	23	A	C	C	C	50	4	MXRA5	4	4
FAM47C	442444	broad.mit.edu	37	X	37026967	37026967	+	Missense_Mutation	SNP	G	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37026967G>C	uc004ddl.1	+	c.484G>C	c.(484-486)GCA>CCA	p.A162P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	162										ovary(3)	3														0.293103	54.357375	56.576739	17	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37026967	37026967	5792	23	G	C	C	C	494	38	FAM47C	3	3
FAM47C	442444	broad.mit.edu	37	X	37027514	37027514	+	Missense_Mutation	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37027514C>T	uc004ddl.1	+	c.1031C>T	c.(1030-1032)CCA>CTA	p.P344L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	344										ovary(3)	3														0.372263	151.289662	153.253342	51	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37027514	37027514	5792	23	C	T	T	T	273	21	FAM47C	2	2
RPGR	6103	broad.mit.edu	37	X	38146246	38146246	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:38146246C>A	uc004ded.1	-	c.2006G>T	c.(2005-2007)TGG>TTG	p.W669L	RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	658	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1														0.446009	299.214354	299.752309	95	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38146246	38146246	14027	23	C	A	A	A	273	21	RPGR	2	2
MID1IP1	58526	broad.mit.edu	37	X	38664295	38664295	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:38664295G>A	uc004dei.3	+	c.96G>A	c.(94-96)GTG>GTA	p.V32V	MID1IP1_uc010ngz.2_Silent_p.V32V|MID1IP1_uc004dej.3_Silent_p.V32V	NM_001098790	NP_001092260	Q9NPA3	M1IP1_HUMAN	MID1 interacting G12-like protein	32					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus					0														0.439024	50.340125	50.473605	18	23	KEEP	---	---	---	---	capture		Silent	SNP	38664295	38664295	9967	23	G	A	A	A	574	45	MID1IP1	2	2
USP9X	8239	broad.mit.edu	37	X	41043661	41043661	+	Silent	SNP	C	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:41043661C>T	uc004dfb.2	+	c.3291C>T	c.(3289-3291)GCC>GCT	p.A1097A	USP9X_uc004dfc.2_Silent_p.A1097A	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1097					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)								0.412281	158.126471	158.886373	47	67	KEEP	---	---	---	---	capture		Silent	SNP	41043661	41043661	17654	23	C	T	T	T	301	24	USP9X	2	2
TIMM17B	10245	broad.mit.edu	37	X	48751400	48751400	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48751400C>A	uc004dla.1	-	c.449G>T	c.(448-450)GGG>GTG	p.G150V	TIMM17B_uc004dlb.1_Missense_Mutation_p.G120V|TIMM17B_uc004dlc.1_Missense_Mutation_p.G100V	NM_005834	NP_005825	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17	100					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1														0.421053	24.897246	25.000487	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48751400	48751400	16438	23	C	A	A	A	286	22	TIMM17B	2	2
ZC4H2	55906	broad.mit.edu	37	X	64139003	64139003	+	Silent	SNP	A	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:64139003A>T	uc004dvu.2	-	c.480T>A	c.(478-480)GCT>GCA	p.A160A	ZC4H2_uc004dvv.2_Silent_p.A137A|ZC4H2_uc011mov.1_Silent_p.A137A|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	160							metal ion binding|protein binding			ovary(1)	1														0.416667	46.419124	46.637274	15	21	KEEP	---	---	---	---	capture		Silent	SNP	64139003	64139003	18166	23	A	T	T	T	80	7	ZC4H2	3	3
HEPH	9843	broad.mit.edu	37	X	65417580	65417580	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65417580G>T	uc011moz.1	+	c.1566G>T	c.(1564-1566)TGG>TGT	p.W522C	HEPH_uc004dwn.2_Missense_Mutation_p.W522C|HEPH_uc004dwo.2_Missense_Mutation_p.W252C|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Missense_Mutation_p.W522C	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	519	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				0.347826	63.411097	64.806407	24	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65417580	65417580	7337	23	G	T	T	T	533	41	HEPH	2	2
EDA2R	60401	broad.mit.edu	37	X	65824892	65824892	+	Silent	SNP	G	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65824892G>A	uc004dwt.1	-	c.264C>T	c.(262-264)CCC>CCT	p.P88P	EDA2R_uc004dwq.2_Silent_p.P88P|EDA2R_uc004dwr.2_Silent_p.P88P|EDA2R_uc004dws.2_Silent_p.P88P|EDA2R_uc011mpb.1_Non-coding_Transcript|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Silent_p.P88P	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN	X-linked ectodysplasin receptor	88	TNFR-Cys 3.|Extracellular (Potential).				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			upper_aerodigestive_tract(1)	1														0.36	25.653132	26.090432	9	16	KEEP	---	---	---	---	capture		Silent	SNP	65824892	65824892	5091	23	G	A	A	A	600	47	EDA2R	2	2
HDHD1A	8226	broad.mit.edu	37	X	6995465	6995465	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:6995465C>A	uc011mhm.1	-	c.375G>T	c.(373-375)CTG>CTT	p.L125L	HDHD1A_uc004crv.2_Silent_p.L102L|HDHD1A_uc011mhn.1_Silent_p.L59L|HDHD1A_uc010ndl.2_Intron|HDHD1A_uc011mho.1_Silent_p.L102L	NM_001135565	NP_001129037	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain	102					nucleotide metabolic process		metal ion binding|phosphatase activity				0		Colorectal(8;0.0114)|Medulloblastoma(8;0.184)												0.40625	37.166658	37.413061	13	19	KEEP	---	---	---	---	capture		Silent	SNP	6995465	6995465	7305	23	C	A	A	A	314	25	HDHD1A	2	2
GJB1	2705	broad.mit.edu	37	X	70443680	70443680	+	Missense_Mutation	SNP	G	T	T	rs116840816		TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70443680G>T	uc004dzf.3	+	c.123G>T	c.(121-123)GAG>GAT	p.E41D	BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzg.3_Missense_Mutation_p.E41D	NM_001097642	NP_001091111	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	41	Helical; (Probable).		E -> K (in CMTX1).		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)													0.452055	95.963411	96.109904	33	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70443680	70443680	6675	23	G	T	T	T	425	33	GJB1	2	2
NHSL2	340527	broad.mit.edu	37	X	71360426	71360426	+	Missense_Mutation	SNP	G	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:71360426G>T	uc011mqa.1	+	c.3028G>T	c.(3028-3030)GTG>TTG	p.V1010L	NHSL2_uc004eak.1_Missense_Mutation_p.V644L|NHSL2_uc010nli.2_Missense_Mutation_p.V779L	NM_001013627	NP_001013649			NHS-like 2												0	Renal(35;0.156)													0.5	78.626989	78.626989	23	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71360426	71360426	10813	23	G	T	T	T	520	40	NHSL2	1	1
TBX22	50945	broad.mit.edu	37	X	79277847	79277847	+	Missense_Mutation	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79277847C>A	uc010nmg.1	+	c.79C>A	c.(79-81)CCA>ACA	p.P27T	TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.P27T	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	27					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				0.333333	34.339582	35.371105	14	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79277847	79277847	16184	23	C	A	A	A	286	22	TBX22	2	2
BRWD3	254065	broad.mit.edu	37	X	79936970	79936970	+	Silent	SNP	T	C	C			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79936970T>C	uc004edt.2	-	c.4524A>G	c.(4522-4524)CTA>CTG	p.L1508L	BRWD3_uc010nmi.1_Non-coding_Transcript|BRWD3_uc004edo.2_Silent_p.L1104L|BRWD3_uc004edp.2_Silent_p.L1337L|BRWD3_uc004edq.2_Silent_p.L1104L|BRWD3_uc010nmj.1_Silent_p.L1104L|BRWD3_uc004edr.2_Silent_p.L1178L|BRWD3_uc004eds.2_Silent_p.L1104L|BRWD3_uc004edu.2_Silent_p.L1178L|BRWD3_uc004edv.2_Silent_p.L1104L|BRWD3_uc004edw.2_Silent_p.L1104L|BRWD3_uc004edx.2_Silent_p.L1104L|BRWD3_uc004edy.2_Silent_p.L1104L|BRWD3_uc004edz.2_Silent_p.L1178L|BRWD3_uc004eea.2_Silent_p.L1178L|BRWD3_uc004eeb.2_Silent_p.L1104L	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1508										ovary(4)	4														0.4375	155.346748	155.671702	42	54	KEEP	---	---	---	---	capture		Silent	SNP	79936970	79936970	1557	23	T	C	C	C	626	49	BRWD3	4	4
DACH2	117154	broad.mit.edu	37	X	85404014	85404014	+	Silent	SNP	C	A	A			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:85404014C>A	uc004eew.2	+	c.390C>A	c.(388-390)ATC>ATA	p.I130I	DACH2_uc004eex.2_Silent_p.I130I|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	130	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5														0.390244	80.155948	81.028533	32	50	KEEP	---	---	---	---	capture		Silent	SNP	85404014	85404014	4387	23	C	A	A	A	382	30	DACH2	2	2
CYP26A1	1592	broad.mit.edu	37	10	94834760	94834761	+	Frame_Shift_Ins	INS	-	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94834760_94834761insT	uc001kil.2	+	c.639_640insT	c.(637-642)GCCTTCfs	p.A213fs	CYP26A1_uc001kik.1_Frame_Shift_Ins_p.A144fs|CYP26A1_uc001kim.1_Frame_Shift_Ins_p.A111fs	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	213_214					negative regulation of retinoic acid receptor signaling pathway|oxidation-reduction process|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			ovary(1)|breast(1)	2		Colorectal(252;0.122)												0.34			38	73		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	94834760	94834761	4320	10	-	T	T	T	301	24	CYP26A1	5	5
STAB2	55576	broad.mit.edu	37	12	104126791	104126792	+	Frame_Shift_Ins	INS	-	T	T			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104126791_104126792insT	uc001tjw.2	+	c.5291_5292insT	c.(5290-5292)GGTfs	p.G1764fs	STAB2_uc009zug.2_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1764	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														0.42			90	124		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	104126791	104126792	15756	12	-	T	T	T	572	44	STAB2	5	5
AHNAK2	113146	broad.mit.edu	37	14	105405564	105405564	+	Frame_Shift_Del	DEL	G	-	-			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105405564_105405564delG	uc010axc.1	-	c.16224_16224delC	c.(16222-16224)CCCfs	p.P5408fs	AHNAK2_uc001ypx.2_Frame_Shift_Del_p.P5308fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5408						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)											0.30			30	69		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	105405564	105405564	418	14	G	-	-	-	600	47	AHNAK2	5	5
MIXL1	83881	broad.mit.edu	37	1	226413314	226413314	+	Frame_Shift_Del	DEL	A	-	-			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226413314_226413314delA	uc010pvm.1	+	c.500_500delA	c.(499-501)GAAfs	p.E167fs		NM_031944	NP_114150	Q9H2W2	MIXL1_HUMAN	Mix-like homeobox protein 1	167					cell differentiation|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		Pancreas(72;1302 1881 20981 22800)								0.31			73	160		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	226413314	226413314	9987	1	A	-	-	-	117	9	MIXL1	5	5
LZTR1	8216	broad.mit.edu	37	22	21348256	21348256	+	Frame_Shift_Del	DEL	G	-	-			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:21348256_21348256delG	uc002zto.2	+	c.1397_1397delG	c.(1396-1398)CGGfs	p.R466fs	LZTR1_uc002ztn.2_Frame_Shift_Del_p.R425fs|LZTR1_uc011ahy.1_Frame_Shift_Del_p.R447fs|LZTR1_uc010gsr.1_Frame_Shift_Del_p.R337fs|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	466	BTB 1.				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)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)						p.R466Q(COV362-Tumor)	1299				0.34			11	21		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	21348256	21348256	9514	22	G	-	-	-	507	39	LZTR1	5	5
ROR2	4920	broad.mit.edu	37	9	94486955	94486955	+	Frame_Shift_Del	DEL	G	-	-			TCGA-44-2656-01	TCGA-44-2656-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:94486955_94486955delG	uc004arj.1	-	c.1821_1821delC	c.(1819-1821)TCCfs	p.S607fs	ROR2_uc004ari.1_Frame_Shift_Del_p.S467fs	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	607	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				0.31			45	102		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	94486955	94486955	14006	9	G	-	-	-	600	47	ROR2	5	5
