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
SORCS3	22986	broad.mit.edu	37	10	106907445	106907445	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106907445C>A	uc001kyi.1	+	c.1373C>A	c.(1372-1374)ACG>AAG	p.T458K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	458	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)								0.085714	0.602885	6.6909	3	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106907445	106907445	15432	10	C	A	A	A	247	19	SORCS3	1	1
SORCS1	114815	broad.mit.edu	37	10	108367013	108367013	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108367013G>C	uc001kyl.2	-	c.3076C>G	c.(3076-3078)CCT>GCT	p.P1026A	SORCS1_uc001kym.2_Missense_Mutation_p.P1026A|SORCS1_uc009xxs.2_Missense_Mutation_p.P1026A|SORCS1_uc001kyn.1_Missense_Mutation_p.P1026A|SORCS1_uc001kyo.2_Missense_Mutation_p.P1026A	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	1026	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)	1		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)										0.137931	5.578568	9.258467	4	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108367013	108367013	15430	10	G	C	C	C	559	43	SORCS1	3	3
USP6NL	9712	broad.mit.edu	37	10	11504534	11504534	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:11504534C>T	uc001iks.1	-	c.2444G>A	c.(2443-2445)AGT>AAT	p.S815N	USP6NL_uc001ikt.3_Missense_Mutation_p.S798N	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 2	798						intracellular	Rab GTPase activator activity				0														0.131579	14.12642	24.128448	10	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11504534	11504534	17651	10	C	T	T	T	260	20	USP6NL	2	2
KCNK18	338567	broad.mit.edu	37	10	118957067	118957067	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118957067G>T	uc010qsr.1	+	c.68G>T	c.(67-69)GGC>GTC	p.G23V		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	23	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0		Colorectal(252;0.19)		all cancers(201;0.0211)										0.075472	-1.205595	8.557032	4	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118957067	118957067	8370	10	G	T	T	T	546	42	KCNK18	2	2
KCNK18	338567	broad.mit.edu	37	10	118969481	118969481	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118969481G>T	uc010qsr.1	+	c.826G>T	c.(826-828)GTG>TTG	p.V276L		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	276	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0		Colorectal(252;0.19)		all cancers(201;0.0211)										0.126984	9.118614	17.621826	8	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118969481	118969481	8370	10	G	T	T	T	572	44	KCNK18	2	2
PDZD8	118987	broad.mit.edu	37	10	119043175	119043175	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:119043175C>A	uc001lde.1	-	c.3069G>T	c.(3067-3069)CTG>CTT	p.L1023L		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1023					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)										0.070866	-4.172285	19.898911	9	118	KEEP	---	---	---	---	capture		Silent	SNP	119043175	119043175	12126	10	C	A	A	A	210	17	PDZD8	2	2
CPXM2	119587	broad.mit.edu	37	10	125506513	125506513	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:125506513G>T	uc001lhk.1	-	c.2038C>A	c.(2038-2040)CGC>AGC	p.R680S	CPXM2_uc001lhj.2_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	680					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)										0.055556	-13.041578	20.513308	9	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125506513	125506513	3977	10	G	T	T	T	494	38	CPXM2	1	1
ADARB2	105	broad.mit.edu	37	10	1279755	1279755	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:1279755A>T	uc009xhq.2	-	c.1394T>A	c.(1393-1395)TTC>TAC	p.F465Y		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	465	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)						191				0.130435	10.426199	19.598801	9	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1279755	1279755	284	10	A	T	T	T	117	9	ADARB2	3	3
CUBN	8029	broad.mit.edu	37	10	17130324	17130324	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17130324C>A	uc001ioo.2	-	c.1786G>T	c.(1786-1788)GGT>TGT	p.G596C		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	596	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)				p.G596C(GRANTA519-Tumor)	2704				0.133333	6.578522	10.493371	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17130324	17130324	4211	10	C	A	A	A	273	21	CUBN	2	2
PLXDC2	84898	broad.mit.edu	37	10	20290820	20290820	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:20290820A>G	uc001iqg.1	+	c.229A>G	c.(229-231)ACG>GCG	p.T77A	PLXDC2_uc001iqh.1_Missense_Mutation_p.T77A	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	77	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3														0.096774	1.717927	6.755623	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20290820	20290820	12544	10	A	G	G	G	78	6	PLXDC2	4	4
C10orf140	387640	broad.mit.edu	37	10	21804386	21804386	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:21804386C>A	uc009xkd.2	-	c.2366G>T	c.(2365-2367)CGA>CTA	p.R789L		NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	708						nucleus	nucleotide binding			ovary(1)	1														0.09	2.310534	19.181349	9	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21804386	21804386	1632	10	C	A	A	A	403	31	C10orf140	1	1
SPAG6	9576	broad.mit.edu	37	10	22700005	22700005	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:22700005G>T	uc001iri.2	+	c.1360G>T	c.(1360-1362)GGT>TGT	p.G454C	SPAG6_uc001irj.2_Intron|SPAG6_uc010qct.1_Missense_Mutation_p.G424C|SPAG6_uc009xkh.2_Missense_Mutation_p.G432C	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	454					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1														0.12	6.720772	13.802103	6	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22700005	22700005	15485	10	G	T	T	T	611	47	SPAG6	2	2
GPR158	57512	broad.mit.edu	37	10	25887285	25887285	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:25887285G>A	uc001isj.2	+	c.2730G>A	c.(2728-2730)AAG>AAA	p.K910K	GPR158_uc001isk.2_Silent_p.K285K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	910	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)	7														0.136364	25.95043	40.033457	15	95	KEEP	---	---	---	---	capture		Silent	SNP	25887285	25887285	6938	10	G	A	A	A	451	35	GPR158	2	2
MYO3A	53904	broad.mit.edu	37	10	26286106	26286106	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26286106A>T	uc001isn.2	+	c.427A>T	c.(427-429)AAC>TAC	p.N143Y	MYO3A_uc009xko.1_Missense_Mutation_p.N143Y|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.N143Y|MYO3A_uc001ism.2_Missense_Mutation_p.N143Y	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	143	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14										781				0.061224	-3.013707	6.832492	3	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26286106	26286106	10471	10	A	T	T	T	169	13	MYO3A	3	3
GAD2	2572	broad.mit.edu	37	10	26506831	26506831	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26506831C>A	uc001isp.2	+	c.197C>A	c.(196-198)GCC>GAC	p.A66D	GAD2_uc009xkr.2_Missense_Mutation_p.A66D|GAD2_uc001isq.2_Missense_Mutation_p.A66D	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	66					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)	1					L-Glutamic Acid(DB00142)									0.363636	11.149726	11.307669	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26506831	26506831	6431	10	C	A	A	A	338	26	GAD2	2	2
MKX	283078	broad.mit.edu	37	10	28030410	28030410	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:28030410A>C	uc001ity.3	-	c.212T>G	c.(211-213)GTG>GGG	p.V71G	MKX_uc001itx.3_Missense_Mutation_p.V71G	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	mohawk homeobox	71	Homeobox; TALE-type.				muscle organ development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.152174	1.574704	7.220169	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28030410	28030410	10000	10	A	C	C	C	78	6	MKX	4	4
KIAA1462	57608	broad.mit.edu	37	10	30336559	30336559	+	Silent	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:30336559C>G	uc009xle.1	-	c.183G>C	c.(181-183)GCG>GCC	p.A61A	KIAA1462_uc001iux.2_Silent_p.A61A|KIAA1462_uc001iuy.2_Silent_p.A61A|KIAA1462_uc001iuz.2_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	61										ovary(4)	4														0.107692	3.169806	13.124472	7	58	KEEP	---	---	---	---	capture		Silent	SNP	30336559	30336559	8543	10	C	G	G	G	288	23	KIAA1462	3	3
ZEB1	6935	broad.mit.edu	37	10	31809741	31809741	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31809741A>G	uc001ivu.3	+	c.1481A>G	c.(1480-1482)AAA>AGA	p.K494R	ZEB1_uc001ivr.3_Missense_Mutation_p.K275R|ZEB1_uc010qee.1_Missense_Mutation_p.K275R|ZEB1_uc010qef.1_Missense_Mutation_p.K275R|ZEB1_uc009xlj.1_Missense_Mutation_p.K419R|ZEB1_uc010qeg.1_Missense_Mutation_p.K352R|ZEB1_uc009xlk.1_Missense_Mutation_p.K275R|ZEB1_uc001ivs.3_Missense_Mutation_p.K493R|ZEB1_uc001ivt.3_Missense_Mutation_p.K275R|ZEB1_uc001ivv.3_Missense_Mutation_p.K473R|ZEB1_uc010qeh.1_Missense_Mutation_p.K426R|ZEB1_uc009xlo.1_Missense_Mutation_p.K476R|ZEB1_uc009xlp.2_Missense_Mutation_p.K477R	NM_030751	NP_001121600	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	493					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)								0.118644	11.682063	20.109063	7	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31809741	31809741	18211	10	A	G	G	G	13	1	ZEB1	4	4
NRP1	8829	broad.mit.edu	37	10	33496628	33496628	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:33496628T>C	uc001iwx.3	-	c.1631A>G	c.(1630-1632)AAC>AGC	p.N544S	NRP1_uc001iwv.3_Missense_Mutation_p.N544S|NRP1_uc009xlz.2_Missense_Mutation_p.N544S|NRP1_uc001iww.3_Missense_Mutation_p.N363S|NRP1_uc001iwy.3_Missense_Mutation_p.N544S|NRP1_uc001iwz.2_Missense_Mutation_p.N544S|NRP1_uc001ixa.2_Missense_Mutation_p.N544S|NRP1_uc001ixb.1_Missense_Mutation_p.N544S	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	544	Extracellular (Potential).|F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)	3					Palifermin(DB00039)|Pegaptanib(DB04895)	Melanoma(104;886 1489 44640 45944 51153)								0.107527	12.662333	26.799446	10	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33496628	33496628	11065	10	T	C	C	C	780	60	NRP1	4	4
ANKRD30A	91074	broad.mit.edu	37	10	37418836	37418836	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37418836G>T	uc001iza.1	+	c.69G>T	c.(67-69)TGG>TGT	p.W23C		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	79	ANK 1.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.222222	8.388325	9.66864	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37418836	37418836	663	10	G	T	T	T	559	43	ANKRD30A	2	2
ANKRD30A	91074	broad.mit.edu	37	10	37451742	37451742	+	Silent	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37451742C>G	uc001iza.1	+	c.1800C>G	c.(1798-1800)GCC>GCG	p.A600A		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	656					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.173913	24.701176	31.593378	12	57	KEEP	---	---	---	---	capture		Silent	SNP	37451742	37451742	663	10	C	G	G	G	301	24	ANKRD30A	3	3
RET	5979	broad.mit.edu	37	10	43608348	43608348	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:43608348C>A	uc001jal.2	+	c.1696C>A	c.(1696-1698)CCC>ACC	p.P566T	RET_uc001jak.1_Missense_Mutation_p.P566T|RET_uc010qez.1_Missense_Mutation_p.P312T	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	566	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development|protein phosphorylation	integral to membrane	ATP binding|calcium ion binding|transcription activator activity|transmembrane receptor protein tyrosine kinase activity			thyroid(381)|adrenal_gland(20)|lung(6)|large_intestine(5)|ovary(4)|central_nervous_system(3)|urinary_tract(1)	420		Ovarian(717;0.0423)			Sunitinib(DB01268)	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		1		536				0.121212	4.696106	9.320385	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43608348	43608348	13705	10	C	A	A	A	286	22	RET	2	2
FAM21C	253725	broad.mit.edu	37	10	46254832	46254832	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:46254832G>T	uc001jcu.2	+	c.1618G>T	c.(1618-1620)GAT>TAT	p.D540Y	FAM21C_uc001jcs.1_Missense_Mutation_p.D485Y|FAM21C_uc001jct.2_Missense_Mutation_p.D540Y|FAM21C_uc010qfi.1_Missense_Mutation_p.D516Y|FAM21C_uc010qfj.1_Intron|FAM21C_uc010qfk.1_5'UTR	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	hypothetical protein LOC253725	540										ovary(1)	1														0.12766	8.415186	14.76921	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46254832	46254832	5757	10	G	T	T	T	429	33	FAM21C	2	2
AKR1E2	83592	broad.mit.edu	37	10	4872893	4872893	+	Silent	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:4872893A>G	uc001ihi.2	+	c.66A>G	c.(64-66)GCA>GCG	p.A22A	AKR1E2_uc001ihl.1_Non-coding_Transcript|AKR1E2_uc010qam.1_Silent_p.A22A|AKR1E2_uc001ihh.1_Silent_p.A22A|AKR1E2_uc009xhw.2_Silent_p.A22A|AKR1E2_uc001ihj.2_Non-coding_Transcript|AKR1E2_uc001ihk.2_Silent_p.A22A	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	22					oxidation-reduction process	cytoplasm	1,5-anhydro-D-fructose reductase activity				0						NSCLC(43;343 1097 20371 28813 45509)								0.103896	4.749558	16.781119	8	69	KEEP	---	---	---	---	capture		Silent	SNP	4872893	4872893	477	10	A	G	G	G	80	7	AKR1E2	4	4
C10orf53	282966	broad.mit.edu	37	10	50901862	50901862	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50901862T>A	uc001jid.1	+	c.140T>A	c.(139-141)ATA>AAA	p.I47K	CHAT_uc010qgs.1_3'UTR|C10orf53_uc001jib.2_Missense_Mutation_p.I47K|C10orf53_uc001jic.1_Missense_Mutation_p.I47K	NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53 isoform a	47											0		all_neural(218;0.107)												0.086207	1.902761	11.899356	5	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50901862	50901862	1643	10	T	A	A	A	637	49	C10orf53	3	3
OGDHL	55753	broad.mit.edu	37	10	50953905	50953905	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50953905T>C	uc009xog.2	-	c.1496A>G	c.(1495-1497)TAT>TGT	p.Y499C	OGDHL_uc001jie.2_Missense_Mutation_p.Y472C|OGDHL_uc010qgt.1_Missense_Mutation_p.Y415C|OGDHL_uc010qgu.1_Missense_Mutation_p.Y263C|OGDHL_uc009xoh.2_Missense_Mutation_p.Y263C	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform c	472					glycolysis|oxidation-reduction process	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1														0.254902	37.466084	40.235684	13	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50953905	50953905	11245	10	T	C	C	C	637	49	OGDHL	4	4
TUBAL3	79861	broad.mit.edu	37	10	5436254	5436254	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:5436254T>A	uc001ihy.2	-	c.567A>T	c.(565-567)GTA>GTT	p.V189V	TUBAL3_uc001ihz.2_Silent_p.V149V	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	189					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0														0.302326	34.857996	36.358564	13	30	KEEP	---	---	---	---	capture		Silent	SNP	5436254	5436254	17306	10	T	A	A	A	678	53	TUBAL3	3	3
MBL2	4153	broad.mit.edu	37	10	54527923	54527923	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:54527923G>A	uc001jjt.2	-	c.721C>T	c.(721-723)CTG>TTG	p.L241L		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	241	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1														0.124424	38.603494	68.498618	27	190	KEEP	---	---	---	---	capture		Silent	SNP	54527923	54527923	9738	10	G	A	A	A	425	33	MBL2	2	2
PCDH15	65217	broad.mit.edu	37	10	55698648	55698648	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55698648C>A	uc010qhy.1	-	c.3315G>T	c.(3313-3315)AGG>AGT	p.R1105S	PCDH15_uc010qhq.1_Missense_Mutation_p.R1105S|PCDH15_uc010qhr.1_Missense_Mutation_p.R1100S|PCDH15_uc010qhs.1_Missense_Mutation_p.R1112S|PCDH15_uc010qht.1_Missense_Mutation_p.R1107S|PCDH15_uc010qhu.1_Missense_Mutation_p.R1100S|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1100S|PCDH15_uc010qhw.1_Missense_Mutation_p.R1063S|PCDH15_uc010qhx.1_Missense_Mutation_p.R1029S|PCDH15_uc010qhz.1_Missense_Mutation_p.R1100S|PCDH15_uc010qia.1_Missense_Mutation_p.R1078S|PCDH15_uc001jju.1_Missense_Mutation_p.R1100S|PCDH15_uc010qib.1_Missense_Mutation_p.R1078S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	1100	Cadherin 10.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.118644	6.485928	14.913817	7	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55698648	55698648	11931	10	C	A	A	A	389	30	PCDH15	2	2
PCDH15	65217	broad.mit.edu	37	10	56138580	56138580	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:56138580G>T	uc010qhy.1	-	c.295C>A	c.(295-297)CTT>ATT	p.L99I	PCDH15_uc010qhq.1_Missense_Mutation_p.L99I|PCDH15_uc010qhr.1_Missense_Mutation_p.L94I|PCDH15_uc010qhs.1_Missense_Mutation_p.L99I|PCDH15_uc010qht.1_Missense_Mutation_p.L94I|PCDH15_uc010qhu.1_Missense_Mutation_p.L94I|PCDH15_uc001jjv.1_Missense_Mutation_p.L72I|PCDH15_uc010qhv.1_Missense_Mutation_p.L94I|PCDH15_uc010qhw.1_Missense_Mutation_p.L94I|PCDH15_uc010qhx.1_Missense_Mutation_p.L94I|PCDH15_uc010qhz.1_Missense_Mutation_p.L94I|PCDH15_uc010qia.1_Missense_Mutation_p.L72I|PCDH15_uc001jju.1_Missense_Mutation_p.L94I|PCDH15_uc010qib.1_Missense_Mutation_p.L72I|PCDH15_uc001jjw.2_Missense_Mutation_p.L94I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	94	Cadherin 1.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)	9		Melanoma(3;0.117)|Lung SC(717;0.238)								1612				0.050505	-11.242231	9.897829	5	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56138580	56138580	11931	10	G	T	T	T	442	34	PCDH15	2	2
IL15RA	3601	broad.mit.edu	37	10	6001727	6001727	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:6001727G>T	uc001iiv.2	-	c.606C>A	c.(604-606)AGC>AGA	p.S202R	IL15RA_uc001iiu.2_Missense_Mutation_p.S50R|IL15RA_uc010qau.1_Missense_Mutation_p.S169R|IL15RA_uc001iiw.2_Missense_Mutation_p.S166R|IL15RA_uc001iix.2_Missense_Mutation_p.S133R|IL15RA_uc001iiy.2_Missense_Mutation_p.S50R	NM_002189	NP_002180	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha isoform 1	202	Extracellular (Potential).				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity				0														0.130435	5.13743	8.168703	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6001727	6001727	7933	10	G	T	T	T	490	38	IL15RA	1	1
TMEM26	219623	broad.mit.edu	37	10	63170401	63170401	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:63170401G>A	uc001jlo.2	-	c.786C>T	c.(784-786)TTC>TTT	p.F262F	TMEM26_uc010qij.1_Non-coding_Transcript|TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	262	Helical; (Potential).					integral to membrane					0	Prostate(12;0.0112)													0.291667	17.712769	18.647633	7	17	KEEP	---	---	---	---	capture		Silent	SNP	63170401	63170401	16690	10	G	A	A	A	581	45	TMEM26	2	2
JMJD1C	221037	broad.mit.edu	37	10	64975022	64975022	+	Splice_Site_SNP	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:64975022C>A	uc001jmn.2	-	c.1015_splice	c.e7+1	p.E339_splice	JMJD1C_uc001jml.2_Splice_Site_SNP_p.E120_splice|JMJD1C_uc001jmm.2_Splice_Site_SNP_p.E51_splice|JMJD1C_uc010qiq.1_Splice_Site_SNP_p.E157_splice|JMJD1C_uc009xpi.2_Splice_Site_SNP_p.E157_splice|JMJD1C_uc009xpj.1_Splice_Site_SNP|JMJD1C_uc001jmp.1_Splice_Site_SNP_p.E51_splice	NM_032776	NP_116165			jumonji domain containing 1C isoform a						blood coagulation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)	5	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.118421	11.219589	22.096638	9	67	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	64975022	64975022	8254	10	C	A	A	A	234	18	JMJD1C	5	2
JMJD1C	221037	broad.mit.edu	37	10	64976995	64976995	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:64976995G>A	uc001jmn.2	-	c.650C>T	c.(649-651)ACC>ATC	p.T217I	JMJD1C_uc001jml.2_5'UTR|JMJD1C_uc001jmm.2_5'UTR|JMJD1C_uc010qiq.1_Missense_Mutation_p.T35I|JMJD1C_uc009xpi.2_Missense_Mutation_p.T35I|JMJD1C_uc009xpj.1_Non-coding_Transcript|JMJD1C_uc001jmp.1_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	217					blood coagulation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)	5	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.104651	6.609729	19.982931	9	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64976995	64976995	8254	10	G	A	A	A	572	44	JMJD1C	2	2
NEUROG3	50674	broad.mit.edu	37	10	71332358	71332358	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:71332358C>A	uc001jpp.2	-	c.442G>T	c.(442-444)GCG>TCG	p.A148S		NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	148					central nervous system development|endocrine pancreas development|peripheral nervous system development	nucleus					0														0.25	11.866416	13.002115	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71332358	71332358	10754	10	C	A	A	A	351	27	NEUROG3	1	1
RBP4	5950	broad.mit.edu	37	10	95360226	95360226	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95360226G>C	uc001kit.2	-	c.279C>G	c.(277-279)GGC>GGG	p.G93G		NM_006744	NP_006735	P02753	RET4_HUMAN	retinol-binding protein 4, plasma precursor	93			G -> D (in RBP deficiency).		cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding|retinol transporter activity				0		Colorectal(252;0.122)			Vitamin A(DB00162)	Pancreas(5;160 256 1117 46697 50185)								0.162791	15.417178	20.048389	7	36	KEEP	---	---	---	---	capture		Silent	SNP	95360226	95360226	13627	10	G	C	C	C	587	46	RBP4	3	3
PIK3AP1	118788	broad.mit.edu	37	10	98408476	98408476	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98408476G>A	uc001kmq.2	-	c.1125C>T	c.(1123-1125)CCC>CCT	p.P375P	PIK3AP1_uc001kmp.2_Silent_p.P197P	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	375						cytoplasm|plasma membrane				ovary(1)	1		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)										0.1	2.720337	7.499228	3	27	KEEP	---	---	---	---	capture		Silent	SNP	98408476	98408476	12332	10	G	A	A	A	600	47	PIK3AP1	2	2
YAP1	10413	broad.mit.edu	37	11	102033253	102033253	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102033253A>T	uc001pgt.2	+	c.639A>T	c.(637-639)ACA>ACT	p.T213T	YAP1_uc001pgs.2_Silent_p.T213T|YAP1_uc001pgu.2_Silent_p.T213T|YAP1_uc001pgv.2_Silent_p.T213T|YAP1_uc010ruo.1_Silent_p.T35T|YAP1_uc001pgw.2_Silent_p.T35T	NM_001130145	NP_001123617	P46937	YAP1_HUMAN	Yes-associated protein 1, 65kDa isoform 1	213					cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	promoter binding|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(1)	1	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		Colon(50;247 1103 7861 28956)				111				0.056	-11.908226	13.953269	7	118	KEEP	---	---	---	---	capture		Silent	SNP	102033253	102033253	18049	11	A	T	T	T	80	7	YAP1	3	3
MMP7	4316	broad.mit.edu	37	11	102394117	102394117	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102394117T>C	uc001phb.2	-	c.629A>G	c.(628-630)TAT>TGT	p.Y210C		NM_002423	NP_002414	P09237	MMP7_HUMAN	matrix metalloproteinase 7 preproprotein	210					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(1)	1	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)										0.067797	-0.814886	10.560633	4	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102394117	102394117	10058	11	T	C	C	C	637	49	MMP7	4	4
MMP10	4319	broad.mit.edu	37	11	102649462	102649462	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:102649462G>A	uc001phg.1	-	c.515C>T	c.(514-516)TCT>TTT	p.S172F		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	172					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)										0.073171	-0.508473	7.17202	3	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102649462	102649462	10039	11	G	A	A	A	429	33	MMP10	2	2
ATM	472	broad.mit.edu	37	11	108218052	108218052	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108218052G>A	uc001pkb.1	+	c.8631G>A	c.(8629-8631)TTG>TTA	p.L2877L	ATM_uc009yxr.1_Silent_p.L2877L|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Silent_p.L1529L	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	2877	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(24)|breast(14)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	238		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)						1073	TSP Lung(14;0.12)			0.068182	-2.065258	6.382784	3	41	KEEP	---	---	---	---	capture		Silent	SNP	108218052	108218052	1128	11	G	A	A	A	581	45	ATM	2	2
EXPH5	23086	broad.mit.edu	37	11	108384381	108384381	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108384381C>G	uc001pkk.2	-	c.1853G>C	c.(1852-1854)GGA>GCA	p.G618A	EXPH5_uc010rvy.1_Missense_Mutation_p.G430A|EXPH5_uc010rvz.1_Missense_Mutation_p.G462A|EXPH5_uc010rwa.1_Missense_Mutation_p.G542A	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	618					intracellular protein transport		Rab GTPase binding			ovary(2)	2		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)										0.084211	1.857701	18.508853	8	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108384381	108384381	5516	11	C	G	G	G	390	30	EXPH5	3	3
NCAM1	4684	broad.mit.edu	37	11	113102911	113102911	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113102911C>A	uc009yyq.1	+	c.984C>A	c.(982-984)GGC>GGA	p.G328G		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	420	Ig-like C2-type 5.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)					p.G328G(HRT18-Tumor)|p.G328G(HCT15-Tumor)	700				0.214286	7.617144	8.672497	3	11	KEEP	---	---	---	---	capture		Silent	SNP	113102911	113102911	10601	11	C	A	A	A	327	26	NCAM1	2	2
DRD2	1813	broad.mit.edu	37	11	113285099	113285099	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113285099C>G	uc001pnz.2	-	c.808G>C	c.(808-810)GTG>CTG	p.V270L	DRD2_uc010rwv.1_Missense_Mutation_p.V269L|DRD2_uc001poa.3_Missense_Mutation_p.V270L|DRD2_uc001pob.3_Intron|DRD2_uc009yyr.1_Missense_Mutation_p.V270L	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	270	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|diuresis|dopamine metabolic process|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|natriuresis|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane|integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)	1		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)					215				0.075862	-3.973968	22.765247	11	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113285099	113285099	4941	11	C	G	G	G	260	20	DRD2	3	3
CADM1	23705	broad.mit.edu	37	11	115085438	115085438	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:115085438C>T	uc001ppj.3	-	c.884G>A	c.(883-885)GGG>GAG	p.G295E	CADM1_uc001ppf.3_Missense_Mutation_p.G295E|CADM1_uc001ppi.3_Missense_Mutation_p.G295E|CADM1_uc001ppk.3_Missense_Mutation_p.G295E|CADM1_uc001ppl.2_Missense_Mutation_p.G295E|CADM1_uc001pph.3_Missense_Mutation_p.G47E	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	295	Ig-like C2-type 2.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)										0.171053	28.275626	36.013136	13	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115085438	115085438	2682	11	C	T	T	T	286	22	CADM1	2	2
CEP164	22897	broad.mit.edu	37	11	117280506	117280506	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117280506G>C	uc001prc.2	+	c.3921G>C	c.(3919-3921)AAG>AAC	p.K1307N	CEP164_uc001prb.2_Missense_Mutation_p.K1302N|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.K732N	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1307					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)										0.124031	22.227857	40.077845	16	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117280506	117280506	3382	11	G	C	C	C	425	33	CEP164	3	3
ATP5L	10632	broad.mit.edu	37	11	118279714	118279714	+	Splice_Site_SNP	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118279714G>A	uc001psx.2	+	c.214_splice	c.e3-1	p.E72_splice		NM_006476	NP_006467			ATP synthase, H+ transporting, mitochondrial F0						ATP catabolic process|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding				0	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)										0.206897	14.0296	16.343703	6	23	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	118279714	118279714	1179	11	G	A	A	A	455	35	ATP5L	5	2
GRIK4	2900	broad.mit.edu	37	11	120531062	120531062	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120531062C>T	uc001pxn.2	+	c.35C>T	c.(34-36)CCT>CTT	p.P12L	GRIK4_uc009zav.1_Missense_Mutation_p.P12L|GRIK4_uc009zaw.1_Missense_Mutation_p.P12L|GRIK4_uc009zax.1_Missense_Mutation_p.P12L	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	12					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)							OREG0021424	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.105263	5.834242	14.639545	6	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120531062	120531062	7055	11	C	T	T	T	312	24	GRIK4	2	2
SORL1	6653	broad.mit.edu	37	11	121429299	121429299	+	Splice_Site_SNP	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:121429299G>T	uc001pxx.2	+	c.2664_splice	c.e20-1	p.G888_splice		NM_003105	NP_003096			sortilin-related receptor containing LDLR class						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	13		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)						937				0.134146	16.566721	27.214939	11	71	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	121429299	121429299	15434	11	G	T	T	T	455	35	SORL1	5	2
ASAM	79827	broad.mit.edu	37	11	122954456	122954456	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:122954456A>G	uc001pyt.2	-	c.488T>C	c.(487-489)GTG>GCG	p.V163A		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	adipocyte-specific adhesion molecule precursor	163	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)										0.0625	-4.039432	8.715215	4	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122954456	122954456	1027	11	A	G	G	G	78	6	ASAM	4	4
OR6X1	390260	broad.mit.edu	37	11	123624810	123624810	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123624810G>T	uc010rzy.1	-	c.417C>A	c.(415-417)TGC>TGA	p.C139*		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X,	139	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)										0.071429	-1.578874	6.343901	3	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	123624810	123624810	11623	11	G	T	T	T	542	42	OR6X1	5	2
KIRREL3	84623	broad.mit.edu	37	11	126319004	126319004	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:126319004G>T	uc001qea.2	-	c.897C>A	c.(895-897)TAC>TAA	p.Y299*	KIRREL3_uc001qeb.2_Nonsense_Mutation_p.Y299*|KIRREL3_uc001qec.1_Nonsense_Mutation_p.Y299*	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 isoform 1	299	Extracellular (Potential).|Ig-like C2-type 3.				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)										0.098765	6.456407	19.482916	8	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	126319004	126319004	8638	11	G	T	T	T	620	48	KIRREL3	5	2
ETS1	2113	broad.mit.edu	37	11	128356001	128356001	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128356001G>C	uc001qej.2	-	c.576C>G	c.(574-576)GCC>GCG	p.A192A	ETS1_uc010sbs.1_Silent_p.A148A|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Silent_p.A148A	NM_001143820	NP_001137292	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	148					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(1)|central_nervous_system(1)|pleura(1)	3	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)										0.095238	5.313823	15.66175	6	57	KEEP	---	---	---	---	capture		Silent	SNP	128356001	128356001	5468	11	G	C	C	C	444	35	ETS1	3	3
ADAMTS15	170689	broad.mit.edu	37	11	130340918	130340918	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:130340918C>T	uc010scd.1	+	c.1824C>T	c.(1822-1824)TCC>TCT	p.S608S		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	608	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|lung(1)|pancreas(1)	4	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)										0.082192	1.189602	14.070581	6	67	KEEP	---	---	---	---	capture		Silent	SNP	130340918	130340918	261	11	C	T	T	T	288	23	ADAMTS15	1	1
HPS5	11234	broad.mit.edu	37	11	18313051	18313051	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18313051C>A	uc001mod.1	-	c.2378G>T	c.(2377-2379)AGT>ATT	p.S793I	HPS5_uc001moe.1_Missense_Mutation_p.S679I|HPS5_uc001mof.1_Missense_Mutation_p.S679I	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5 isoform a	793						cytosol				ovary(1)|pancreas(1)	2														0.15625	9.280942	12.868957	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18313051	18313051	7634	11	C	A	A	A	260	20	HPS5	2	2
ANO3	63982	broad.mit.edu	37	11	26664740	26664740	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:26664740G>T	uc001mqt.3	+	c.2287G>T	c.(2287-2289)GGT>TGT	p.G763C	ANO3_uc010rdr.1_Missense_Mutation_p.G747C|ANO3_uc010rds.1_Missense_Mutation_p.G602C|ANO3_uc010rdt.1_Missense_Mutation_p.G617C	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	763	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.068493	-3.776888	10.295435	5	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26664740	26664740	706	11	G	T	T	T	611	47	ANO3	2	2
KIF18A	81930	broad.mit.edu	37	11	28098612	28098612	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:28098612T>C	uc001msc.2	-	c.1367A>G	c.(1366-1368)TAC>TGC	p.Y456C		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	456					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2														0.192308	25.040802	29.621882	10	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28098612	28098612	8591	11	T	C	C	C	741	57	KIF18A	4	4
CCDC73	493860	broad.mit.edu	37	11	32636435	32636435	+	Nonsense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:32636435G>A	uc001mtv.2	-	c.1429C>T	c.(1429-1431)CAG>TAG	p.Q477*		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	477										ovary(1)	1	Breast(20;0.112)													0.055556	-4.689096	6.504385	3	51	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	32636435	32636435	2969	11	G	A	A	A	585	45	CCDC73	5	2
TRIM44	54765	broad.mit.edu	37	11	35685179	35685179	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:35685179G>T	uc001mwi.2	+	c.520G>T	c.(520-522)GTG>TTG	p.V174L		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	DIPB protein	174	B box-type.					intracellular	protein binding|zinc ion binding				0	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)												0.1	0.775997	7.192202	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35685179	35685179	17064	11	G	T	T	T	468	36	TRIM44	2	2
ART5	116969	broad.mit.edu	37	11	3661177	3661177	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:3661177C>A	uc001lyb.1	-	c.482G>T	c.(481-483)GGT>GTT	p.G161V	ART5_uc001lyc.1_Missense_Mutation_p.G161V|ART5_uc001lyd.2_Missense_Mutation_p.G161V|ART5_uc009yea.2_Missense_Mutation_p.G161V	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5 precursor	161						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.066667	-1.604145	7.146967	3	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3661177	3661177	1018	11	C	A	A	A	234	18	ART5	2	2
OR52K2	119774	broad.mit.edu	37	11	4470650	4470650	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4470650C>A	uc001lyz.1	+	c.81C>A	c.(79-81)ATC>ATA	p.I27I		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K,	27	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;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.123077	8.968112	17.994493	8	57	KEEP	---	---	---	---	capture		Silent	SNP	4470650	4470650	11534	11	C	A	A	A	408	32	OR52K2	2	2
LRP4	4038	broad.mit.edu	37	11	46894697	46894697	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:46894697C>A	uc001ndn.3	-	c.4537G>T	c.(4537-4539)GAC>TAC	p.D1513Y		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1513	Extracellular (Potential).|LDL-receptor class B 18.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			ovary(1)	1				Lung(87;0.159)										0.157895	15.143534	21.501488	9	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46894697	46894697	9332	11	C	A	A	A	416	32	LRP4	2	2
LRP4	4038	broad.mit.edu	37	11	46920180	46920180	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:46920180A>G	uc001ndn.3	-	c.725T>C	c.(724-726)CTG>CCG	p.L242P	LRP4_uc009ylh.1_Missense_Mutation_p.L193P	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	242	Extracellular (Potential).|LDL-receptor class A 6.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			ovary(1)	1				Lung(87;0.159)										0.0625	-9.505692	16.038802	8	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46920180	46920180	9332	11	A	G	G	G	91	7	LRP4	4	4
C1QTNF4	114900	broad.mit.edu	37	11	47611633	47611633	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47611633A>T	uc001ngc.2	-	c.730T>A	c.(730-732)TCG>ACG	p.S244T		NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	244	C1q 2.					extracellular region					0														0.148148	5.58474	8.792484	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47611633	47611633	2032	11	A	T	T	T	130	10	C1QTNF4	3	3
AGBL2	79841	broad.mit.edu	37	11	47689131	47689131	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47689131C>A	uc001ngg.2	-	c.2332G>T	c.(2332-2334)GAT>TAT	p.D778Y	AGBL2_uc001ngf.2_Non-coding_Transcript|AGBL2_uc010rhq.1_Missense_Mutation_p.D740Y	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	778					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2														0.077922	-1.289176	12.71954	6	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47689131	47689131	378	11	C	A	A	A	416	32	AGBL2	2	2
OR52R1	119695	broad.mit.edu	37	11	4824945	4824945	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4824945C>A	uc010qym.1	-	c.903G>T	c.(901-903)GTG>GTT	p.V301V		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.076923	-0.402214	6.740786	3	36	KEEP	---	---	---	---	capture		Silent	SNP	4824945	4824945	11541	11	C	A	A	A	366	29	OR52R1	2	2
OR51T1	401665	broad.mit.edu	37	11	4904034	4904034	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4904034G>T	uc010qyp.1	+	c.986G>T	c.(985-987)CGC>CTC	p.R329L		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.084746	1.520581	11.761671	5	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4904034	4904034	11516	11	G	T	T	T	494	38	OR51T1	1	1
OR52A1	23538	broad.mit.edu	37	11	5173072	5173072	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5173072G>T	uc010qyy.1	-	c.528C>A	c.(526-528)GTC>GTA	p.V176V		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A,	176	Extracellular (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.070175	-2.442018	8.424697	4	53	KEEP	---	---	---	---	capture		Silent	SNP	5173072	5173072	11518	11	G	T	T	T	574	45	OR52A1	2	2
OR51V1	283111	broad.mit.edu	37	11	5221658	5221658	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5221658C>A	uc010qyz.1	-	c.273G>T	c.(271-273)CTG>CTT	p.L91L		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.147059	9.352128	13.420896	5	29	KEEP	---	---	---	---	capture		Silent	SNP	5221658	5221658	11517	11	C	A	A	A	262	21	OR51V1	2	2
OR4C16	219428	broad.mit.edu	37	11	55340095	55340095	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55340095G>T	uc010rih.1	+	c.492G>T	c.(490-492)TTG>TTT	p.L164F		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.0748)												0.102804	9.045284	25.776181	11	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55340095	55340095	11455	11	G	T	T	T	594	46	OR4C16	2	2
OR5D14	219436	broad.mit.edu	37	11	55563451	55563451	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55563451G>T	uc010rim.1	+	c.420G>T	c.(418-420)CAG>CAT	p.Q140H		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	140	Cytoplasmic (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)												0.090909	3.153154	14.239621	6	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55563451	55563451	11565	11	G	T	T	T	425	33	OR5D14	2	2
OR5D18	219438	broad.mit.edu	37	11	55587887	55587887	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55587887G>T	uc010rin.1	+	c.782G>T	c.(781-783)TGT>TTT	p.C261F		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.090909	1.622251	7.169785	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55587887	55587887	11567	11	G	T	T	T	624	48	OR5D18	2	2
OR5L2	26338	broad.mit.edu	37	11	55595294	55595294	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55595294C>A	uc001nhy.1	+	c.600C>A	c.(598-600)TTC>TTA	p.F200L		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.081871	-0.350031	30.056979	14	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55595294	55595294	11581	11	C	A	A	A	389	30	OR5L2	2	2
OR5F1	338674	broad.mit.edu	37	11	55761380	55761380	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55761380C>A	uc010riv.1	-	c.722G>T	c.(721-723)TGT>TTT	p.C241F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)													0.097561	2.973031	9.618865	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55761380	55761380	11568	11	C	A	A	A	221	17	OR5F1	2	2
OR8J3	81168	broad.mit.edu	37	11	55904510	55904510	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55904510G>C	uc010riz.1	-	c.685C>G	c.(685-687)CGT>GGT	p.R229G		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00693)													0.147541	14.436126	21.73002	9	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55904510	55904510	11653	11	G	C	C	C	520	40	OR8J3	3	3
OR8K5	219453	broad.mit.edu	37	11	55927529	55927529	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55927529G>T	uc010rja.1	-	c.265C>A	c.(265-267)CGA>AGA	p.R89R		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	89	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)												0.105263	7.671412	19.420781	8	68	KEEP	---	---	---	---	capture		Silent	SNP	55927529	55927529	11656	11	G	T	T	T	480	37	OR8K5	1	1
OR5T3	390154	broad.mit.edu	37	11	56020511	56020511	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56020511C>A	uc010rjd.1	+	c.836C>A	c.(835-837)ACA>AAA	p.T279K		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	279	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)													0.133929	24.59387	39.114624	15	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56020511	56020511	11593	11	C	A	A	A	221	17	OR5T3	2	2
TRIM22	10346	broad.mit.edu	37	11	5729478	5729478	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5729478G>T	uc001mbr.2	+	c.849G>T	c.(847-849)CTG>CTT	p.L283L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Silent_p.L251L|TRIM22_uc009yes.2_Silent_p.L279L|TRIM22_uc010qzm.1_Silent_p.L111L|TRIM22_uc009yeu.2_Silent_p.L94L|OR56B1_uc001mbs.1_5'UTR|OR56B1_uc009yev.1_5'UTR	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	283	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|regulation of transcription, DNA-dependent|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GBM(104;491 2336 5222)								0.16129	9.063999	12.441173	5	26	KEEP	---	---	---	---	capture		Silent	SNP	5729478	5729478	17040	11	G	T	T	T	574	45	TRIM22	2	2
OR56B1	387748	broad.mit.edu	37	11	5758676	5758676	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5758676C>A	uc001mbt.1	+	c.930C>A	c.(928-930)GCC>GCA	p.A310A	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)										0.13125	25.99069	47.224174	21	139	KEEP	---	---	---	---	capture		Silent	SNP	5758676	5758676	11547	11	C	A	A	A	301	24	OR56B1	2	2
OR6Q1	219952	broad.mit.edu	37	11	57799343	57799343	+	Nonsense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57799343C>T	uc010rjz.1	+	c.919C>T	c.(919-921)CGA>TGA	p.R307*	OR9Q1_uc001nmj.2_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q,	307	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)	1		Breast(21;0.0707)|all_epithelial(135;0.142)												0.063492	-3.587032	8.846836	4	59	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57799343	57799343	11619	11	C	T	T	T	399	31	OR6Q1	5	1
OR52N5	390075	broad.mit.edu	37	11	5799256	5799256	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5799256G>T	uc010qzn.1	-	c.609C>A	c.(607-609)GTC>GTA	p.V203V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	203	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)										0.116667	6.269348	14.996829	7	53	KEEP	---	---	---	---	capture		Silent	SNP	5799256	5799256	11540	11	G	T	T	T	574	45	OR52N5	2	2
OR5B12	390191	broad.mit.edu	37	11	58207590	58207590	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58207590A>T	uc010rkh.1	-	c.35T>A	c.(34-36)CTT>CAT	p.L12H		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B,	12	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.09375	1.999353	7.308756	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58207590	58207590	11558	11	A	T	T	T	39	3	OR5B12	3	3
GLYATL2	219970	broad.mit.edu	37	11	58604651	58604651	+	Splice_Site_SNP	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58604651C>A	uc001nnd.3	-	c.314_splice	c.e5-1	p.G105_splice	GLYATL2_uc009ymq.2_Splice_Site_SNP_p.G105_splice	NM_145016	NP_659453			glycine-N-acyltransferase-like 2							mitochondrion	glycine N-acyltransferase activity			ovary(1)	1		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)					196				0.108434	4.553092	17.364426	9	74	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	58604651	58604651	6749	11	C	A	A	A	312	24	GLYATL2	5	2
OR4D6	219983	broad.mit.edu	37	11	59225169	59225169	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59225169G>C	uc010rku.1	+	c.736G>C	c.(736-738)GTG>CTG	p.V246L		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.242424	44.228907	48.18147	16	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59225169	59225169	11465	11	G	C	C	C	572	44	OR4D6	3	3
OR4D11	219986	broad.mit.edu	37	11	59271283	59271283	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59271283C>T	uc001noa.1	+	c.235C>T	c.(235-237)CCT>TCT	p.P79S		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	79	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2														0.160714	32.64708	44.988967	18	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59271283	59271283	11462	11	C	T	T	T	390	30	OR4D11	2	2
TCN1	6947	broad.mit.edu	37	11	59622151	59622151	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59622151G>T	uc001noj.2	-	c.1095C>A	c.(1093-1095)GCC>GCA	p.A365A		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	365					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(1)	1		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.068493	-2.83532	11.176202	5	68	KEEP	---	---	---	---	capture		Silent	SNP	59622151	59622151	16232	11	G	T	T	T	548	43	TCN1	2	2
MS4A7	58475	broad.mit.edu	37	11	60157028	60157028	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60157028T>C	uc001npe.2	+	c.505T>C	c.(505-507)TAT>CAT	p.Y169H	MS4A7_uc001npf.2_Missense_Mutation_p.Y169H|MS4A7_uc001npg.2_Missense_Mutation_p.Y124H|MS4A7_uc001nph.2_Missense_Mutation_p.Y124H|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.Y124H	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	169	Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2														0.117647	12.458607	22.224036	8	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60157028	60157028	10259	11	T	C	C	C	637	49	MS4A7	4	4
C11orf9	745	broad.mit.edu	37	11	61539345	61539345	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61539345C>A	uc001nsc.1	+	c.1036C>A	c.(1036-1038)CCC>ACC	p.P346T	C11orf9_uc001nse.1_Missense_Mutation_p.P337T	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	346	NDT80.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1														0.190476	30.279546	37.786314	16	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61539345	61539345	1711	11	C	A	A	A	286	22	C11orf9	2	2
SLC22A25	387601	broad.mit.edu	37	11	62931450	62931450	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62931450G>T	uc001nwr.1	-	c.1490C>A	c.(1489-1491)CCC>CAC	p.P497H	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	putative UST1-like organic anion transporter	497	Helical; Name=12; (Potential).				transmembrane transport	integral to membrane				ovary(3)	3														0.131313	17.028494	30.093583	13	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62931450	62931450	14951	11	G	T	T	T	559	43	SLC22A25	2	2
PLCB3	5331	broad.mit.edu	37	11	64023045	64023045	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64023045G>T	uc001nzb.2	+	c.554G>T	c.(553-555)CGG>CTG	p.R185L	PLCB3_uc009ypg.1_Missense_Mutation_p.R185L|PLCB3_uc009yph.1_Missense_Mutation_p.R118L|PLCB3_uc009ypi.2_Missense_Mutation_p.R185L	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	185					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2														0.185185	22.021388	27.036533	10	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64023045	64023045	12455	11	G	T	T	T	507	39	PLCB3	1	1
HPX	3263	broad.mit.edu	37	11	6461961	6461961	+	Splice_Site_SNP	SNP	C	G	G	rs113971031		TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6461961C>G	uc001mdg.2	-	c.84_splice	c.e2-1	p.P28_splice	HPX_uc009yfc.2_Splice_Site_SNP|HPX_uc010rai.1_Splice_Site_SNP_p.P28_splice	NM_000613	NP_000604			hemopexin precursor						cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)										0.083333	0.881911	9.333439	4	44	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	6461961	6461961	7638	11	C	G	G	G	312	24	HPX	5	3
SNX15	29907	broad.mit.edu	37	11	64795011	64795011	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64795011T>C	uc001oci.3	+	c.2T>C	c.(1-3)ATG>ACG	p.M1T	SNX15_uc009ypy.2_Missense_Mutation_p.M1T|SNX15_uc001ocj.2_Missense_Mutation_p.M1T|SNX15_uc001ock.2_Missense_Mutation_p.M1T	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	sorting nexin 15 isoform A	1	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			ovary(1)	1						Esophageal Squamous(56;269 1304 3324 8253)						OREG0021069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.12766	8.016515	14.373502	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64795011	64795011	15386	11	T	C	C	C	663	51	SNX15	4	4
OR2AG2	338755	broad.mit.edu	37	11	6789843	6789844	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6789843_6789844CC>AA	uc001meq.1	-	c.345_346GG>TT	c.(343-348)CTGGCC>CTTTCC	p.A116S		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.054545	-5.120733	6.378142	3	52	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	6789843	6789844	11391	11	CC	AA	AA	AA	338	26	OR2AG2	2	2
CPT1A	1374	broad.mit.edu	37	11	68540772	68540772	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:68540772G>T	uc001oog.3	-	c.1701C>A	c.(1699-1701)GAC>GAA	p.D567E	CPT1A_uc001oof.3_Missense_Mutation_p.D567E|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	567	Cytoplasmic (Potential).|Coenzyme A binding (By similarity).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity				0	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)									0.090909	1.701736	7.26742	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68540772	68540772	3970	11	G	T	T	T	516	40	CPT1A	1	1
OR2D3	120775	broad.mit.edu	37	11	6942649	6942649	+	Silent	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6942649T>C	uc010rav.1	+	c.417T>C	c.(415-417)TAT>TAC	p.Y139Y		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.061856	-7.815572	11.603959	6	91	KEEP	---	---	---	---	capture		Silent	SNP	6942649	6942649	11401	11	T	C	C	C	660	51	OR2D3	4	4
PPFIA1	8500	broad.mit.edu	37	11	70171046	70171046	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:70171046G>T	uc001opo.2	+	c.460G>T	c.(460-462)GTG>TTG	p.V154L	PPFIA1_uc001opn.1_Missense_Mutation_p.V154L|PPFIA1_uc001opp.2_Non-coding_Transcript|PPFIA1_uc001opq.1_5'Flank	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	154					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)											0.056075	-12.02256	10.393276	6	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70171046	70171046	12739	11	G	T	T	T	520	40	PPFIA1	1	1
ARHGEF17	9828	broad.mit.edu	37	11	73071467	73071467	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73071467G>T	uc001otu.2	+	c.4309G>T	c.(4309-4311)GAG>TAG	p.E1437*		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1437					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0														0.068376	-8.038068	14.466649	8	109	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	73071467	73071467	914	11	G	T	T	T	533	41	ARHGEF17	5	2
OR5P3	120066	broad.mit.edu	37	11	7847205	7847205	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7847205C>T	uc010rbg.1	-	c.315G>A	c.(313-315)GTG>GTA	p.V105V		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)										0.051948	-8.142211	8.186072	4	73	KEEP	---	---	---	---	capture		Silent	SNP	7847205	7847205	11589	11	C	T	T	T	366	29	OR5P3	2	2
RIC3	79608	broad.mit.edu	37	11	8158923	8158923	+	Splice_Site_SNP	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:8158923A>T	uc010rbm.1	-	c.521_splice	c.e4+1	p.S174_splice	RIC3_uc001mgb.2_Splice_Site_SNP|RIC3_uc001mgc.2_Splice_Site_SNP_p.R174_splice|RIC3_uc001mge.2_Intron|RIC3_uc010rbl.1_Splice_Site_SNP_p.S124_splice|RIC3_uc001mgd.2_Splice_Site_SNP_p.S174_splice|RIC3_uc009yfm.2_Intron|RIC3_uc009yfn.2_Intron	NM_024557	NP_078833			resistance to inhibitors of cholinesterase 3							endoplasmic reticulum membrane|Golgi membrane|integral to membrane				large_intestine(1)|ovary(1)|pancreas(1)	3				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)										0.224719	48.209661	54.367092	20	69	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	8158923	8158923	13829	11	A	T	T	T	182	14	RIC3	5	3
PCF11	51585	broad.mit.edu	37	11	82882867	82882867	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:82882867G>T	uc001ozx.3	+	c.3668G>T	c.(3667-3669)AGT>ATT	p.S1223I		NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	1223					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1														0.112903	4.239291	13.532041	7	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82882867	82882867	11993	11	G	T	T	T	468	36	PCF11	2	2
FZD4	8322	broad.mit.edu	37	11	86663317	86663317	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:86663317C>A	uc001pce.2	-	c.481G>T	c.(481-483)GGG>TGG	p.G161W	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	frizzled 4 precursor	161	FZ.|Extracellular (Potential).				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of gene-specific transcription from RNA polymerase II promoter|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm|integral to plasma membrane	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.119403	9.69073	19.183954	8	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86663317	86663317	6383	11	C	A	A	A	312	24	FZD4	2	2
FAT3	120114	broad.mit.edu	37	11	92616229	92616229	+	Nonsense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92616229A>T	uc001pdj.3	+	c.12607A>T	c.(12607-12609)AAG>TAG	p.K4203*	FAT3_uc001pdi.3_Nonsense_Mutation_p.K643*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4203	Cytoplasmic (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)			0.081081	1.520304	14.725228	6	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	92616229	92616229	5927	11	A	T	T	T	65	5	FAT3	5	3
NT5DC3	51559	broad.mit.edu	37	12	104200708	104200708	+	Splice_Site_SNP	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:104200708C>G	uc010swe.1	-	c.394_splice	c.e3-1	p.Y132_splice		NM_001031701	NP_001026871			5'-nucleotidase domain containing 3								hydrolase activity|metal ion binding			ovary(2)|skin(1)	3														0.116279	7.345844	13.574915	5	38	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	104200708	104200708	11097	12	C	G	G	G	260	20	NT5DC3	5	3
WSCD2	9671	broad.mit.edu	37	12	108603991	108603991	+	Missense_Mutation	SNP	G	C	C	rs35731310		TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108603991G>C	uc001tms.2	+	c.591G>C	c.(589-591)ATG>ATC	p.M197I	WSCD2_uc001tmt.2_Missense_Mutation_p.M197I	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	197	WSC 1.					integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3														0.21875	13.808811	16.143232	7	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108603991	108603991	17981	12	G	C	C	C	611	47	WSCD2	3	3
PTPN11	5781	broad.mit.edu	37	12	112939999	112939999	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:112939999G>A	uc001ttx.2	+	c.1651G>A	c.(1651-1653)GAC>AAC	p.D551N		NM_002834	NP_002825	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type	555					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			haematopoietic_and_lymphoid_tissue(372)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|ovary(1)|NS(1)|kidney(1)	388										372				0.088235	2.597266	14.252635	6	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112939999	112939999	13235	12	G	A	A	A	533	41	PTPN11	2	2
RASAL1	8437	broad.mit.edu	37	12	113553489	113553489	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:113553489C>T	uc001tun.1	-	c.954G>A	c.(952-954)CTG>CTA	p.L318L	RASAL1_uc010syp.1_Silent_p.L318L|RASAL1_uc001tul.2_Silent_p.L318L|RASAL1_uc001tum.1_Silent_p.L318L|RASAL1_uc010syq.1_Silent_p.L318L|RASAL1_uc001tuo.3_Silent_p.L318L|RASAL1_uc010syr.1_Silent_p.L318L	NM_004658	NP_004649	O95294	RASL1_HUMAN	RAS protein activator like 1	318	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(1)	3														0.2	9.088429	10.762687	4	16	KEEP	---	---	---	---	capture		Silent	SNP	113553489	113553489	13524	12	C	T	T	T	262	21	RASAL1	2	2
RBM19	9904	broad.mit.edu	37	12	114377880	114377880	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:114377880C>A	uc009zwi.2	-	c.1823G>T	c.(1822-1824)GGC>GTC	p.G608V	RBM19_uc001tvn.3_Missense_Mutation_p.G608V|RBM19_uc001tvm.2_Missense_Mutation_p.G608V	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	608	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(2)|ovary(1)|liver(1)|central_nervous_system(1)	5	Medulloblastoma(191;0.163)|all_neural(191;0.178)													0.175	27.223056	35.17694	14	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114377880	114377880	13582	12	C	A	A	A	338	26	RBM19	2	2
TBX3	6926	broad.mit.edu	37	12	115112511	115112511	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:115112511G>A	uc001tvt.1	-	c.1229C>T	c.(1228-1230)CCC>CTC	p.P410L	TBX3_uc001tvu.1_Missense_Mutation_p.P390L	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	410					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)										0.25	7.720647	8.40146	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115112511	115112511	16185	12	G	A	A	A	559	43	TBX3	2	2
FBXO21	23014	broad.mit.edu	37	12	117604703	117604703	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:117604703C>A	uc001twk.2	-	c.1193G>T	c.(1192-1194)CGG>CTG	p.R398L	FBXO21_uc001twj.2_Missense_Mutation_p.R398L|FBXO21_uc009zwq.2_Intron|FBXO21_uc001twl.1_Missense_Mutation_p.R11L	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	398					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GBM(168;452 2038 13535 17701 43680)								0.140625	14.128039	22.138637	9	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117604703	117604703	5970	12	C	A	A	A	299	23	FBXO21	1	1
LRP6	4040	broad.mit.edu	37	12	12334236	12334236	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:12334236C>T	uc001rah.3	-	c.1114G>A	c.(1114-1116)GGC>AGC	p.G372S	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G372S	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	372	LDL-receptor class B 6.|Extracellular (Potential).|Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5		Prostate(47;0.0865)								618				0.121212	12.853921	22.132595	8	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12334236	12334236	9335	12	C	T	T	T	312	24	LRP6	2	2
ABCB9	23457	broad.mit.edu	37	12	123428991	123428991	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123428991C>A	uc001udm.3	-	c.1327G>T	c.(1327-1329)GGC>TGC	p.G443C	ABCB9_uc010tai.1_Missense_Mutation_p.G50C|ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Intron|ABCB9_uc010taj.1_Missense_Mutation_p.G443C|ABCB9_uc001udp.2_Missense_Mutation_p.G443C|ABCB9_uc001udq.2_Missense_Mutation_p.G225C|ABCB9_uc001udr.2_Missense_Mutation_p.G443C	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	443	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		Ovarian(49;786 1333 9175 38236)								0.051282	-8.71642	7.867949	4	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123428991	123428991	49	12	C	A	A	A	299	23	ABCB9	1	1
PLCZ1	89869	broad.mit.edu	37	12	18865880	18865880	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:18865880A>T	uc010sid.1	-	c.610T>A	c.(610-612)TGG>AGG	p.W204R	PLCZ1_uc001rdv.3_Missense_Mutation_p.W100R|PLCZ1_uc001rdw.3_Intron|PLCZ1_uc001rdu.1_5'UTR|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	204	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)	2	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)													0.108696	5.056092	12.02231	5	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18865880	18865880	12470	12	A	T	T	T	91	7	PLCZ1	3	3
CACNA2D4	93589	broad.mit.edu	37	12	2022194	2022194	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2022194C>T	uc001qjp.2	-	c.421G>A	c.(421-423)GTC>ATC	p.V141I	CACNA2D4_uc009zds.1_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.V141I	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	141	Extracellular (Potential).				response to stimulus|visual perception	integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		Colon(2;101 179 21030 23310 28141)								0.230769	6.617764	7.481808	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2022194	2022194	2667	12	C	T	T	T	234	18	CACNA2D4	2	2
PDE3A	5139	broad.mit.edu	37	12	20766475	20766475	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:20766475G>T	uc001reh.1	+	c.1110G>T	c.(1108-1110)GTG>GTT	p.V370V		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	370				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)	3	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)									0.113208	6.231164	14.044057	6	47	KEEP	---	---	---	---	capture		Silent	SNP	20766475	20766475	12058	12	G	T	T	T	613	48	PDE3A	2	2
ABCC9	10060	broad.mit.edu	37	12	22086820	22086820	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:22086820G>T	uc001rfh.2	-	c.180C>A	c.(178-180)CAC>CAA	p.H60Q	ABCC9_uc001rfi.1_Missense_Mutation_p.H60Q|ABCC9_uc001rfj.1_Missense_Mutation_p.H60Q|ABCC9_uc001rfk.2_Missense_Mutation_p.H60Q|ABCC9_uc001rfl.1_Missense_Mutation_p.H60Q	NM_020297	NP_064693	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	60	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)	4					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.101695	5.104306	14.444019	6	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22086820	22086820	60	12	G	T	T	T	620	48	ABCC9	2	2
IQSEC3	440073	broad.mit.edu	37	12	274680	274680	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:274680C>A	uc001qhw.1	+	c.1881C>A	c.(1879-1881)TTC>TTA	p.F627L	IQSEC3_uc001qhu.1_Missense_Mutation_p.F627L	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	930	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)	3	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)										0.1	3.526446	14.676434	7	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	274680	274680	8122	12	C	A	A	A	389	30	IQSEC3	2	2
CACNA1C	775	broad.mit.edu	37	12	2795394	2795394	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2795394T>A	uc009zdu.1	+	c.5992T>A	c.(5992-5994)TCT>ACT	p.S1998T	CACNA1C_uc009zdv.1_Missense_Mutation_p.S1912T|CACNA1C_uc001qkb.2_Missense_Mutation_p.S1915T|CACNA1C_uc001qkc.2_Missense_Mutation_p.S1934T|CACNA1C_uc001qke.2_Missense_Mutation_p.S1904T|CACNA1C_uc001qkf.2_Missense_Mutation_p.S1923T|CACNA1C_uc001qjz.2_Missense_Mutation_p.S1915T|CACNA1C_uc001qkd.2_Missense_Mutation_p.S1934T|CACNA1C_uc001qkg.2_Missense_Mutation_p.S1921T|CACNA1C_uc009zdw.1_Missense_Mutation_p.S1956T|CACNA1C_uc001qkh.2_Missense_Mutation_p.S1923T|CACNA1C_uc001qkl.2_Missense_Mutation_p.S1963T|CACNA1C_uc001qkn.2_Missense_Mutation_p.S1915T|CACNA1C_uc001qko.2_Missense_Mutation_p.S1935T|CACNA1C_uc001qkp.2_Missense_Mutation_p.S1915T|CACNA1C_uc001qkr.2_Missense_Mutation_p.S1932T|CACNA1C_uc001qku.2_Missense_Mutation_p.S1950T|CACNA1C_uc001qkq.2_Missense_Mutation_p.S1943T|CACNA1C_uc001qks.2_Missense_Mutation_p.S1915T|CACNA1C_uc001qkt.2_Missense_Mutation_p.S1934T|CACNA1C_uc001qki.1_Missense_Mutation_p.S1722T|CACNA1C_uc001qkj.1_Missense_Mutation_p.S1686T|CACNA1C_uc001qkk.1_Missense_Mutation_p.S1651T|CACNA1C_uc001qkm.1_Missense_Mutation_p.S1711T|CACNA1C_uc010sea.1_Missense_Mutation_p.S606T|CACNA1C_uc001qky.1_Missense_Mutation_p.S233T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1998	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)									0.094595	4.382648	16.585107	7	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2795394	2795394	2656	12	T	A	A	A	702	54	CACNA1C	3	3
PRICKLE1	144165	broad.mit.edu	37	12	42866307	42866307	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:42866307C>T	uc010skv.1	-	c.12G>A	c.(10-12)GAG>GAA	p.E4E	PRICKLE1_uc001rnl.2_Silent_p.E4E|PRICKLE1_uc010skw.1_Silent_p.E4E|PRICKLE1_uc001rnm.2_Silent_p.E4E|PRICKLE1_uc009zka.2_5'UTR	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	4					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination	cytosol|nuclear membrane	zinc ion binding			ovary(3)	3	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)										0.088889	2.511123	10.152685	4	41	KEEP	---	---	---	---	capture		Silent	SNP	42866307	42866307	12929	12	C	T	T	T	415	32	PRICKLE1	2	2
ACVR1B	91	broad.mit.edu	37	12	52380697	52380697	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52380697G>T	uc010snn.1	+	c.1355G>T	c.(1354-1356)TGG>TTG	p.W452L	ACVR1B_uc001rzl.2_Missense_Mutation_p.W411L|ACVR1B_uc001rzm.2_Missense_Mutation_p.W411L|ACVR1B_uc001rzn.2_Missense_Mutation_p.W411L	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	411	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|ovary(1)|lung(1)|kidney(1)	7				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)					117				0.117021	13.570233	27.119742	11	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52380697	52380697	222	12	G	T	T	T	611	47	ACVR1B	2	2
KRT73	319101	broad.mit.edu	37	12	53012247	53012247	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53012247G>C	uc001sas.2	-	c.62C>G	c.(61-63)TCC>TGC	p.S21C		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	21	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)	4				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.08	-2.440903	6.591905	4	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53012247	53012247	8801	12	G	C	C	C	533	41	KRT73	3	3
OR9K2	441639	broad.mit.edu	37	12	55524048	55524048	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55524048T>C	uc010spe.1	+	c.496T>C	c.(496-498)TGT>CGT	p.C166R		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	166	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2														0.112676	10.451855	20.964661	8	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55524048	55524048	11665	12	T	C	C	C	767	59	OR9K2	4	4
MMP19	4327	broad.mit.edu	37	12	56234451	56234451	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56234451C>A	uc001sib.2	-	c.520G>T	c.(520-522)GGG>TGG	p.G174W	MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_Non-coding_Transcript|MMP19_uc010spw.1_Missense_Mutation_p.G174C	NM_002429	NP_002420	Q99542	MMP19_HUMAN	matrix metalloproteinase 19 isoform rasi-1	174					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)	1														0.098765	5.959006	18.985187	8	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56234451	56234451	10047	12	C	A	A	A	273	21	MMP19	2	2
MMP19	4327	broad.mit.edu	37	12	56234583	56234583	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56234583G>T	uc001sib.2	-	c.388C>A	c.(388-390)CGT>AGT	p.R130S	MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_Non-coding_Transcript|MMP19_uc010spw.1_Missense_Mutation_p.R130S	NM_002429	NP_002420	Q99542	MMP19_HUMAN	matrix metalloproteinase 19 isoform rasi-1	130					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)	1														0.08046	2.098955	17.671726	7	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56234583	56234583	10047	12	G	T	T	T	494	38	MMP19	1	1
DGKA	1606	broad.mit.edu	37	12	56330338	56330338	+	Silent	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56330338A>G	uc001sij.2	+	c.51A>G	c.(49-51)CAA>CAG	p.Q17Q	DGKA_uc009zoc.1_Silent_p.Q17Q|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Silent_p.Q17Q|DGKA_uc009zoe.1_Silent_p.Q17Q|DGKA_uc001sik.2_Silent_p.Q17Q|DGKA_uc001sil.2_Silent_p.Q17Q|DGKA_uc001sim.2_Silent_p.Q17Q|DGKA_uc001sin.2_Silent_p.Q17Q|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_5'UTR	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	17					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)									0.192308	13.963986	16.259167	5	21	KEEP	---	---	---	---	capture		Silent	SNP	56330338	56330338	4644	12	A	G	G	G	11	1	DGKA	4	4
LRP1	4035	broad.mit.edu	37	12	57548038	57548038	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57548038G>T	uc001snd.2	+	c.889G>T	c.(889-891)GTG>TTG	p.V297L	LRP1_uc001snc.1_Missense_Mutation_p.V297L	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	297	Extracellular (Potential).|LDL-receptor class B 1.				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456				0.081633	1.632177	19.093323	8	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57548038	57548038	9324	12	G	T	T	T	624	48	LRP1	2	2
LRP1	4035	broad.mit.edu	37	12	57573723	57573723	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57573723G>T	uc001snd.2	+	c.5125G>T	c.(5125-5127)GTC>TTC	p.V1709F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1709	Extracellular (Potential).|LDL-receptor class B 14.				apoptotic cell clearance|multicellular organismal development|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein particle receptor binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(7)|large_intestine(2)|pancreas(2)|skin(1)|central_nervous_system(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)					1456				0.163265	27.352009	37.95178	16	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57573723	57573723	9324	12	G	T	T	T	520	40	LRP1	1	1
KIF5A	3798	broad.mit.edu	37	12	57975705	57975705	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57975705G>T	uc001sor.1	+	c.2962G>T	c.(2962-2964)GCT>TCT	p.A988S	KIF5A_uc010srr.1_Missense_Mutation_p.A899S	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	988	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)	2														0.175	15.023467	18.990382	7	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57975705	57975705	8616	12	G	T	T	T	546	42	KIF5A	2	2
GRIP1	23426	broad.mit.edu	37	12	66859187	66859187	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:66859187G>T	uc001stk.2	-	c.740C>A	c.(739-741)GCA>GAA	p.A247E	GRIP1_uc010sta.1_Missense_Mutation_p.A191E|GRIP1_uc001stj.2_5'UTR|GRIP1_uc001stl.1_Missense_Mutation_p.A191E|GRIP1_uc001stm.2_Missense_Mutation_p.A247E	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	247					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)										0.068182	-1.893227	6.578966	3	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66859187	66859187	7066	12	G	T	T	T	598	46	GRIP1	2	2
OSBPL8	114882	broad.mit.edu	37	12	76784400	76784400	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76784400C>A	uc001sye.1	-	c.967G>T	c.(967-969)GAC>TAC	p.D323Y	OSBPL8_uc001syf.1_Missense_Mutation_p.D281Y|OSBPL8_uc001syg.1_Missense_Mutation_p.D281Y|OSBPL8_uc001syh.1_Missense_Mutation_p.D298Y	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	323					lipid transport		lipid binding			ovary(1)	1														0.052632	-8.199114	7.812873	4	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76784400	76784400	11694	12	C	A	A	A	390	30	OSBPL8	2	2
NAV3	89795	broad.mit.edu	37	12	78400781	78400781	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78400781A>T	uc001syp.2	+	c.1463A>T	c.(1462-1464)AAG>ATG	p.K488M	NAV3_uc001syo.2_Missense_Mutation_p.K488M	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	488						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.190476	15.358066	19.148438	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78400781	78400781	10581	12	A	T	T	T	39	3	NAV3	3	3
LRRIQ1	84125	broad.mit.edu	37	12	85449967	85449967	+	Nonsense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85449967A>T	uc001tac.2	+	c.1396A>T	c.(1396-1398)AAA>TAA	p.K466*	LRRIQ1_uc001tab.1_Nonsense_Mutation_p.K466*|LRRIQ1_uc001taa.1_Nonsense_Mutation_p.K441*	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	466										ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(134;0.212)										0.121212	4.775826	9.417254	4	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	85449967	85449967	9405	12	A	T	T	T	13	1	LRRIQ1	5	3
NTN4	59277	broad.mit.edu	37	12	96180796	96180796	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:96180796C>T	uc001tei.2	-	c.506G>A	c.(505-507)GGC>GAC	p.G169D	NTN4_uc009ztf.2_Missense_Mutation_p.G169D|NTN4_uc009ztg.2_Missense_Mutation_p.G132D	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	netrin 4 precursor	169	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				ovary(1)	1														0.076923	-0.949056	8.496849	4	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96180796	96180796	11107	12	C	T	T	T	338	26	NTN4	2	2
NEDD1	121441	broad.mit.edu	37	12	97328946	97328946	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:97328946G>C	uc001tew.2	+	c.703G>C	c.(703-705)GAT>CAT	p.D235H	NEDD1_uc001teu.3_Missense_Mutation_p.D228H|NEDD1_uc001tev.3_Missense_Mutation_p.D228H|NEDD1_uc010svc.1_Missense_Mutation_p.D139H|NEDD1_uc001tex.2_Missense_Mutation_p.D139H	NM_001135175	NP_001128647	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	228	WD 6.				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0														0.112676	8.198592	18.862563	8	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97328946	97328946	10708	12	G	C	C	C	533	41	NEDD1	3	3
TMTC4	84899	broad.mit.edu	37	13	101315270	101315270	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101315270G>T	uc001vot.2	-	c.500C>A	c.(499-501)GCG>GAG	p.A167E	TMTC4_uc001vou.2_Missense_Mutation_p.A148E|TMTC4_uc010tja.1_Intron	NM_032813	NP_116202	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	148	Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.1	-2.845265	6.682955	6	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101315270	101315270	16804	13	G	T	T	T	494	38	TMTC4	1	1
ERCC5	2073	broad.mit.edu	37	13	103459781	103459781	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:103459781G>T	uc001vpu.1	+	c.164G>T	c.(163-165)TGG>TTG	p.W55L	BIVM_uc001vps.2_Missense_Mutation_p.W55L|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Missense_Mutation_p.W55L	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|central_nervous_system(1)	5	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)									463				0.1	3.169679	9.563291	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103459781	103459781	5409	13	G	T	T	T	611	47	ERCC5	2	2
RNF17	56163	broad.mit.edu	37	13	25362201	25362201	+	Silent	SNP	C	T	T	rs79685389	byFrequency;by1000genomes	TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25362201C>T	uc001upr.2	+	c.687C>T	c.(685-687)TAC>TAT	p.Y229Y	RNF17_uc010tdd.1_Silent_p.Y88Y|RNF17_uc010aab.2_Non-coding_Transcript|RNF17_uc010tde.1_Silent_p.Y229Y|RNF17_uc001ups.2_Silent_p.Y168Y|RNF17_uc001upq.1_Silent_p.Y229Y	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	229					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)										0.070423	-4.474575	9.043748	5	66	KEEP	---	---	---	---	capture		Silent	SNP	25362201	25362201	13938	13	C	T	T	T	220	17	RNF17	2	2
FAM123A	219287	broad.mit.edu	37	13	25745110	25745110	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:25745110C>A	uc001uqb.2	-	c.648G>T	c.(646-648)GAG>GAT	p.E216D	FAM123A_uc001uqa.2_Missense_Mutation_p.E216D|FAM123A_uc001uqc.2_Missense_Mutation_p.E216D	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	216										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)										0.266667	7.473966	8.228593	4	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25745110	25745110	5619	13	C	A	A	A	311	24	FAM123A	2	2
ATP8A2	51761	broad.mit.edu	37	13	26128042	26128042	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:26128042C>A	uc001uqk.2	+	c.1169C>A	c.(1168-1170)GCC>GAC	p.A390D	ATP8A2_uc010tdi.1_Missense_Mutation_p.A350D|ATP8A2_uc010tdj.1_Non-coding_Transcript|ATP8A2_uc001uql.1_Missense_Mutation_p.A350D	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	350	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)	3		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)										0.182927	30.229437	37.928623	15	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26128042	26128042	1212	13	C	A	A	A	338	26	ATP8A2	2	2
FLT1	2321	broad.mit.edu	37	13	28880861	28880861	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:28880861G>T	uc001usb.3	-	c.3769C>A	c.(3769-3771)CGC>AGC	p.R1257S	FLT1_uc010aap.2_Missense_Mutation_p.R262S|FLT1_uc010aaq.2_Missense_Mutation_p.R382S|FLT1_uc001usa.3_Missense_Mutation_p.R475S	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1257	Cytoplasmic (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(6)|central_nervous_system(5)|ovary(2)|urinary_tract(1)|breast(1)	15	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)					738				0.190476	17.504861	21.244691	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28880861	28880861	6183	13	G	T	T	T	494	38	FLT1	1	1
FLT1	2321	broad.mit.edu	37	13	29008344	29008344	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:29008344G>A	uc001usb.3	-	c.527C>T	c.(526-528)ACT>ATT	p.T176I	FLT1_uc010aar.1_Missense_Mutation_p.T176I|FLT1_uc001usc.3_Missense_Mutation_p.T176I|FLT1_uc010tdp.1_Missense_Mutation_p.T176I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	176	Ig-like C2-type 2.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(6)|central_nervous_system(5)|ovary(2)|urinary_tract(1)|breast(1)	15	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)					738				0.191489	19.24673	23.429083	9	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29008344	29008344	6183	13	G	A	A	A	468	36	FLT1	2	2
SOHLH2	54937	broad.mit.edu	37	13	36748988	36748988	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:36748988G>A	uc010tei.1	-	c.891C>T	c.(889-891)TGC>TGT	p.C297C	SOHLH2_uc001uvj.2_Silent_p.C220C	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	220	Basic motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)										0.176471	16.848987	21.881698	9	42	KEEP	---	---	---	---	capture		Silent	SNP	36748988	36748988	15424	13	G	A	A	A	438	34	SOHLH2	2	2
CCNA1	8900	broad.mit.edu	37	13	37015285	37015285	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:37015285G>C	uc001uvr.3	+	c.1129G>C	c.(1129-1131)GAT>CAT	p.D377H	CCNA1_uc010teo.1_Missense_Mutation_p.D333H|CCNA1_uc010abq.2_Missense_Mutation_p.D333H|CCNA1_uc010abp.2_Missense_Mutation_p.D333H|CCNA1_uc001uvs.3_Missense_Mutation_p.D376H|CCNA1_uc010abr.2_Non-coding_Transcript	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	377					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein binding			lung(2)|ovary(1)	3		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)						263				0.117647	8.511969	15.843893	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37015285	37015285	3036	13	G	C	C	C	429	33	CCNA1	3	3
KIAA0564	23078	broad.mit.edu	37	13	42263515	42263515	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:42263515A>C	uc001uyj.2	-	c.4106T>G	c.(4105-4107)ATA>AGA	p.I1369R		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1369						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)	5		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)										0.181818	15.478343	18.579093	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42263515	42263515	8492	13	A	C	C	C	208	16	KIAA0564	4	4
KIAA0564	23078	broad.mit.edu	37	13	42263517	42263517	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:42263517T>A	uc001uyj.2	-	c.4104A>T	c.(4102-4104)ACA>ACT	p.T1368T		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1368						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)	5		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)										0.151515	8.5561	12.393005	5	28	KEEP	---	---	---	---	capture		Silent	SNP	42263517	42263517	8492	13	T	A	A	A	808	63	KIAA0564	3	3
TSC22D1	8848	broad.mit.edu	37	13	45148670	45148670	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:45148670C>A	uc001uzn.3	-	c.1541G>T	c.(1540-1542)GGT>GTT	p.G514V	TSC22D1_uc001uzo.1_Missense_Mutation_p.G514V	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	514	Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)										0.135417	20.511166	32.87863	13	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45148670	45148670	17158	13	C	A	A	A	234	18	TSC22D1	2	2
SPERT	220082	broad.mit.edu	37	13	46276958	46276958	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46276958C>G	uc001van.1	+	c.124C>G	c.(124-126)CTA>GTA	p.L42V	SPERT_uc001vao.2_5'Flank	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	42						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)										0.136364	8.417842	14.054722	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46276958	46276958	15551	13	C	G	G	G	311	24	SPERT	3	3
ZC3H13	23091	broad.mit.edu	37	13	46542960	46542960	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:46542960C>G	uc010tfw.1	-	c.3719G>C	c.(3718-3720)AGC>ACC	p.S1240T	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.S1240T|ZC3H13_uc001vat.1_Missense_Mutation_p.S1240T	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1240	Ser-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		Esophageal Squamous(187;747 2077 11056 31291 44172)								0.112782	15.234242	34.92187	15	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46542960	46542960	18153	13	C	G	G	G	364	28	ZC3H13	3	3
INTS6	26512	broad.mit.edu	37	13	51942033	51942033	+	Silent	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:51942033T>C	uc001vfk.2	-	c.2478A>G	c.(2476-2478)AAA>AAG	p.K826K	INTS6_uc001vfi.2_Silent_p.K510K|INTS6_uc001vfj.2_Silent_p.K813K|INTS6_uc001vfl.2_Silent_p.K648K	NM_012141	NP_036273	Q9UL03	INT6_HUMAN	integrator complex subunit 6 isoform a	826					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			ovary(1)|lung(1)	2		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)										0.166667	7.875237	10.424389	4	20	KEEP	---	---	---	---	capture		Silent	SNP	51942033	51942033	8083	13	T	C	C	C	673	52	INTS6	4	4
THSD1	55901	broad.mit.edu	37	13	52952445	52952445	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52952445C>A	uc001vgo.2	-	c.1660G>T	c.(1660-1662)GTG>TTG	p.V554L	THSD1_uc001vgp.2_Missense_Mutation_p.V501L|THSD1_uc010tgz.1_Missense_Mutation_p.V175L|THSD1_uc010aea.2_Missense_Mutation_p.V15L	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	554	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)	2		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)										0.19469	51.785858	61.637362	22	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52952445	52952445	16405	13	C	A	A	A	247	19	THSD1	1	1
PCDH17	27253	broad.mit.edu	37	13	58240955	58240955	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58240955C>A	uc001vhq.1	+	c.2785C>A	c.(2785-2787)CCA>ACA	p.P929T	PCDH17_uc010aec.1_Missense_Mutation_p.P928T|PCDH17_uc001vhr.1_Missense_Mutation_p.P18T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	929	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)								0.148148	5.680093	8.89265	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58240955	58240955	11932	13	C	A	A	A	234	18	PCDH17	2	2
MYCBP2	23077	broad.mit.edu	37	13	77663000	77663000	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:77663000T>A	uc001vkf.2	-	c.10578A>T	c.(10576-10578)CTA>CTT	p.L3526L	MYCBP2_uc010aev.2_Silent_p.L2930L|MYCBP2_uc001vke.2_Silent_p.L146L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3526					regulation of mitotic metaphase/anaphase transition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	anaphase-promoting complex	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|lung(2)|pancreas(1)	11		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)										0.210526	35.752004	41.651463	16	60	KEEP	---	---	---	---	capture		Silent	SNP	77663000	77663000	10413	13	T	A	A	A	782	61	MYCBP2	3	3
MYCBP2	23077	broad.mit.edu	37	13	77669677	77669677	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:77669677C>G	uc001vkf.2	-	c.9901G>C	c.(9901-9903)GAA>CAA	p.E3301Q	MYCBP2_uc010aev.2_Missense_Mutation_p.E2705Q|MYCBP2_uc001vke.2_5'Flank	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3301					regulation of mitotic metaphase/anaphase transition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	anaphase-promoting complex	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|lung(2)|pancreas(1)	11		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)										0.052632	-5.412741	6.630764	3	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77669677	77669677	10413	13	C	G	G	G	390	30	MYCBP2	3	3
SLITRK5	26050	broad.mit.edu	37	13	88329568	88329568	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:88329568G>C	uc001vln.2	+	c.1925G>C	c.(1924-1926)CGG>CCG	p.R642P	SLITRK5_uc010tic.1_Missense_Mutation_p.R401P	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	642	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)													0.089286	1.93669	11.472022	5	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88329568	88329568	15244	13	G	C	C	C	507	39	SLITRK5	3	3
DZIP1	22873	broad.mit.edu	37	13	96272154	96272154	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:96272154C>A	uc001vmk.2	-	c.1158G>T	c.(1156-1158)AAG>AAT	p.K386N	DZIP1_uc001vml.2_Missense_Mutation_p.K386N	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	386					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)											0.206612	52.213978	61.866981	25	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96272154	96272154	5049	13	C	A	A	A	415	32	DZIP1	2	2
EML1	2009	broad.mit.edu	37	14	100363487	100363487	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100363487G>T	uc001ygr.2	+	c.740G>T	c.(739-741)GGG>GTG	p.G247V	EML1_uc010avt.1_Missense_Mutation_p.G215V|EML1_uc010tww.1_Missense_Mutation_p.G216V|EML1_uc001ygq.2_Missense_Mutation_p.G247V|EML1_uc001ygs.2_Missense_Mutation_p.G228V	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	228						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|ovary(1)|pancreas(1)	4		Melanoma(154;0.0879)|all_epithelial(191;0.216)												0.1	3.571096	9.963053	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100363487	100363487	5288	14	G	T	T	T	559	43	EML1	2	2
DLK1	8788	broad.mit.edu	37	14	101195327	101195327	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:101195327C>A	uc001yhs.3	+	c.186C>A	c.(184-186)GGC>GGA	p.G62G	DLK1_uc001yhu.3_Silent_p.G62G	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	62	EGF-like 2.|Extracellular (Potential).				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)	2		Melanoma(154;0.155)												0.064516	-5.401708	12.909971	6	87	KEEP	---	---	---	---	capture		Silent	SNP	101195327	101195327	4744	14	C	A	A	A	353	28	DLK1	2	2
HSP90AA1	3320	broad.mit.edu	37	14	102548655	102548655	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:102548655T>C	uc001ykv.3	-	c.2248A>G	c.(2248-2250)ATG>GTG	p.M750V	HSP90AA1_uc001yku.3_Missense_Mutation_p.M628V	NM_001017963	NP_001017963	P07900	HS90A_HUMAN	heat shock 90kDa protein 1, alpha isoform 1	628					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			ovary(2)|central_nervous_system(2)	4					Rifabutin(DB00615)					7				0.135135	20.447401	34.783745	15	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102548655	102548655	7700	14	T	C	C	C	663	51	HSP90AA1	4	4
PLD4	122618	broad.mit.edu	37	14	105398445	105398445	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105398445C>A	uc010tyl.1	+	c.1176C>A	c.(1174-1176)CCC>CCA	p.P392P	PLD4_uc001ypu.1_Silent_p.P385P	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	phospholipase D4	385					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)									0.142857	5.257121	7.799898	3	18	KEEP	---	---	---	---	capture		Silent	SNP	105398445	105398445	12474	14	C	A	A	A	262	21	PLD4	2	2
AHNAK2	113146	broad.mit.edu	37	14	105413236	105413236	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105413236G>C	uc010axc.1	-	c.8552C>G	c.(8551-8553)TCC>TGC	p.S2851C	AHNAK2_uc001ypx.2_Missense_Mutation_p.S2751C	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2851						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)											0.117318	29.886049	55.628334	21	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105413236	105413236	418	14	G	C	C	C	533	41	AHNAK2	3	3
AHNAK2	113146	broad.mit.edu	37	14	105416310	105416310	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105416310G>C	uc010axc.1	-	c.5478C>G	c.(5476-5478)CCC>CCG	p.P1826P	AHNAK2_uc001ypx.2_Silent_p.P1726P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1826						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)											0.056047	-32.795171	37.416715	19	320	KEEP	---	---	---	---	capture		Silent	SNP	105416310	105416310	418	14	G	C	C	C	600	47	AHNAK2	3	3
AHNAK2	113146	broad.mit.edu	37	14	105418992	105418992	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105418992C>T	uc010axc.1	-	c.2796G>A	c.(2794-2796)AAG>AAA	p.K932K	AHNAK2_uc001ypx.2_Silent_p.K832K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	932						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)											0.077206	3.666476	53.319859	21	251	KEEP	---	---	---	---	capture		Silent	SNP	105418992	105418992	418	14	C	T	T	T	311	24	AHNAK2	2	2
OR4K5	79317	broad.mit.edu	37	14	20388855	20388855	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20388855C>A	uc010tkw.1	+	c.90C>A	c.(88-90)TTC>TTA	p.F30L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.072165	-6.614379	11.947259	7	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20388855	20388855	11483	14	C	A	A	A	415	32	OR4K5	2	2
OR4K5	79317	broad.mit.edu	37	14	20389362	20389362	+	Silent	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20389362T>C	uc010tkw.1	+	c.597T>C	c.(595-597)ATT>ATC	p.I199I		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.098901	10.473079	39.721664	18	164	KEEP	---	---	---	---	capture		Silent	SNP	20389362	20389362	11483	14	T	C	C	C	809	63	OR4K5	4	4
OR4N5	390437	broad.mit.edu	37	14	20612100	20612100	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20612100T>A	uc010tla.1	+	c.206T>A	c.(205-207)CTG>CAG	p.L69Q		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)										0.26943	139.666372	148.966357	52	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20612100	20612100	11489	14	T	A	A	A	715	55	OR4N5	3	3
TTC5	91875	broad.mit.edu	37	14	20764550	20764550	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20764550G>T	uc001vwt.2	-	c.695C>A	c.(694-696)ACG>AAG	p.T232K	TTC5_uc001vwu.2_Missense_Mutation_p.T89K	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	232	TPR 4.				DNA repair	cytoplasm|nucleus	binding			ovary(1)	1	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)										0.044444	-23.503387	16.426227	8	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20764550	20764550	17266	14	G	T	T	T	520	40	TTC5	1	1
TEP1	7011	broad.mit.edu	37	14	20856064	20856064	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20856064C>A	uc001vxe.2	-	c.2684G>T	c.(2683-2685)GGA>GTA	p.G895V	TEP1_uc010ahk.2_Missense_Mutation_p.G245V|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.G787V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	895					telomere maintenance via recombination|telomere maintenance via telomerase	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)										0.05	-8.956463	8.217016	4	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20856064	20856064	16286	14	C	A	A	A	286	22	TEP1	2	2
RPGRIP1	57096	broad.mit.edu	37	14	21794251	21794251	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21794251G>T	uc001wag.2	+	c.2629G>T	c.(2629-2631)GAT>TAT	p.D877Y	RPGRIP1_uc001wah.2_Missense_Mutation_p.D519Y|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001wak.2_Missense_Mutation_p.D352Y|RPGRIP1_uc010aim.2_Missense_Mutation_p.D260Y|RPGRIP1_uc001wal.2_Missense_Mutation_p.D236Y|RPGRIP1_uc001wam.2_Missense_Mutation_p.D194Y	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	877	C2.				response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)						1408				0.3125	28.337522	29.339469	10	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21794251	21794251	14028	14	G	T	T	T	585	45	RPGRIP1	2	2
OR10G2	26534	broad.mit.edu	37	14	22102200	22102200	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:22102200C>A	uc010tmc.1	-	c.799G>T	c.(799-801)GCT>TCT	p.A267S		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)										0.195652	16.844934	20.82189	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22102200	22102200	11305	14	C	A	A	A	338	26	OR10G2	2	2
CDH24	64403	broad.mit.edu	37	14	23517554	23517554	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23517554C>A	uc001wil.2	-	c.2095G>T	c.(2095-2097)GAC>TAC	p.D699Y	CDH24_uc001wik.3_Non-coding_Transcript|CDH24_uc010akf.2_Missense_Mutation_p.D661Y	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	699	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)										0.1875	31.678163	40.484319	18	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23517554	23517554	3238	14	C	A	A	A	403	31	CDH24	1	1
PABPN1	8106	broad.mit.edu	37	14	23793489	23793489	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23793489G>T	uc001wjh.3	+	c.953G>T	c.(952-954)CGC>CTC	p.R318L	PABPN1_uc001wjj.2_Missense_Mutation_p.R291L|PABPN1_uc001wjk.2_Missense_Mutation_p.R291L	NM_004643	NP_004634	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	291	Interacts with PAPOLA (By similarity).|Necessary for homooligomerization.				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)						17				0.230769	38.196057	42.511259	15	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23793489	23793489	11784	14	G	T	T	T	494	38	PABPN1	1	1
MYH7	4625	broad.mit.edu	37	14	23887531	23887531	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23887531C>T	uc001wjx.2	-	c.4057G>A	c.(4057-4059)GCC>ACC	p.A1353T	MIR208B_hsa-mir-208b|MI0005570_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1353	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)										0.076923	-1.160128	10.736883	5	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23887531	23887531	10434	14	C	T	T	T	338	26	MYH7	2	2
PSME2	5721	broad.mit.edu	37	14	24612835	24612835	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24612835C>A	uc001wmj.2	-	c.598G>T	c.(598-600)GGG>TGG	p.G200W	FAM158A_uc001wmi.2_5'Flank|PSME2_uc001wmk.2_Missense_Mutation_p.G123W	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	proteasome activator subunit 2	200					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex					0				GBM - Glioblastoma multiforme(265;0.00839)										0.166667	31.71479	41.158271	15	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24612835	24612835	13160	14	C	A	A	A	273	21	PSME2	2	2
ADCY4	196883	broad.mit.edu	37	14	24800522	24800522	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24800522C>A	uc001wov.2	-	c.710G>T	c.(709-711)CGA>CTA	p.R237L	ADCY4_uc001wow.2_Missense_Mutation_p.R237L|ADCY4_uc010toh.1_5'UTR|ADCY4_uc001wox.2_Missense_Mutation_p.R237L|ADCY4_uc001woy.2_Missense_Mutation_p.R237L	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	237	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)						1				0.115385	6.81719	14.390226	6	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24800522	24800522	297	14	C	A	A	A	403	31	ADCY4	1	1
NYNRIN	57523	broad.mit.edu	37	14	24883947	24883947	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24883947G>A	uc001wpf.3	+	c.2992G>A	c.(2992-2994)GAG>AAG	p.E998K		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	998					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.12	3.615218	7.15006	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24883947	24883947	11201	14	G	A	A	A	533	41	NYNRIN	2	2
FOXG1	2290	broad.mit.edu	37	14	29237013	29237013	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:29237013C>A	uc001wqe.2	+	c.528C>A	c.(526-528)AAC>AAA	p.N176K		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	176	Gly-rich.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neuron differentiation|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|sensory cilium assembly|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(1)	3			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)										0.15	5.521772	7.862403	3	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29237013	29237013	6252	14	C	A	A	A	246	19	FOXG1	1	1
FOXG1	2290	broad.mit.edu	37	14	29237154	29237154	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:29237154G>T	uc001wqe.2	+	c.669G>T	c.(667-669)CAG>CAT	p.Q223H		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	223	Fork-head.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neuron differentiation|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|sensory cilium assembly|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(2)|lung(1)	3			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)										0.155556	11.019783	16.104379	7	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29237154	29237154	6252	14	G	T	T	T	451	35	FOXG1	2	2
STRN3	29966	broad.mit.edu	37	14	31388178	31388178	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:31388178C>T	uc001wqu.2	-	c.1234G>A	c.(1234-1236)GAG>AAG	p.E412K	STRN3_uc001wqv.2_Intron|STRN3_uc010tpj.1_Intron	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	412					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)										0.229508	73.644867	81.822808	28	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31388178	31388178	15850	14	C	T	T	T	416	32	STRN3	2	2
STRN3	29966	broad.mit.edu	37	14	31416470	31416470	+	Splice_Site_SNP	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:31416470C>A	uc001wqu.2	-	c.543_splice	c.e5-1	p.Q181_splice	STRN3_uc001wqv.2_Splice_Site_SNP_p.Q181_splice|STRN3_uc010tpj.1_Splice_Site_SNP	NM_001083893	NP_001077362			nuclear autoantigen isoform 1						negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)										0.229508	33.241753	37.318402	14	47	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	31416470	31416470	15850	14	C	A	A	A	312	24	STRN3	5	2
FSCB	84075	broad.mit.edu	37	14	44975221	44975221	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:44975221C>A	uc001wvn.2	-	c.970G>T	c.(970-972)GCC>TCC	p.A324S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	324	Pro-rich.					cilium				breast(3)|ovary(2)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(112;0.128)						151				0.164179	18.512134	25.666182	11	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44975221	44975221	6316	14	C	A	A	A	338	26	FSCB	2	2
FANCM	57697	broad.mit.edu	37	14	45665628	45665628	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45665628G>T	uc001wwd.3	+	c.5594G>T	c.(5593-5595)AGG>ATG	p.R1865M	FANCM_uc010anf.2_Missense_Mutation_p.R1839M|FANCM_uc001wwe.3_Missense_Mutation_p.R1401M|FANCM_uc010ang.2_Missense_Mutation_p.R1114M	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1865	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(2)|breast(1)	3										793				0.065934	-10.146655	7.926561	6	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45665628	45665628	5907	14	G	T	T	T	455	35	FANCM	2	2
C14orf106	55320	broad.mit.edu	37	14	45705137	45705137	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45705137T>C	uc001wwf.2	-	c.1228A>G	c.(1228-1230)AAC>GAC	p.N410D	C14orf106_uc010anh.2_Non-coding_Transcript	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	chromosome 14 open reading frame 106	410					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding				0						Ovarian(187;620 2054 7273 12043 20532)								0.088235	2.79994	8.625468	3	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45705137	45705137	1786	14	T	C	C	C	793	61	C14orf106	4	4
SYNE2	23224	broad.mit.edu	37	14	64421515	64421515	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64421515G>T	uc001xgl.2	+	c.669G>T	c.(667-669)TTG>TTT	p.L223F	SYNE2_uc001xgk.2_Missense_Mutation_p.L223F|SYNE2_uc001xgm.2_Missense_Mutation_p.L223F	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	223	CH 2.|Cytoplasmic (Potential).|Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.075472	-1.496302	8.260408	4	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64421515	64421515	15967	14	G	T	T	T	594	46	SYNE2	2	2
SPTB	6710	broad.mit.edu	37	14	65259901	65259901	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65259901C>A	uc001xhr.2	-	c.2480G>T	c.(2479-2481)CGG>CTG	p.R827L	SPTB_uc001xhs.2_Missense_Mutation_p.R827L|SPTB_uc001xht.2_Missense_Mutation_p.R827L|SPTB_uc001xhu.2_Missense_Mutation_p.R827L	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	827	Spectrin 6.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|lung(1)|central_nervous_system(1)	9		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)										0.08	0.490868	9.460096	4	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65259901	65259901	15632	14	C	A	A	A	299	23	SPTB	1	1
PCNX	22990	broad.mit.edu	37	14	71444226	71444226	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71444226G>C	uc001xmo.2	+	c.1172G>C	c.(1171-1173)CGG>CCG	p.R391P	PCNX_uc001xmn.3_Missense_Mutation_p.R391P|PCNX_uc010are.1_Missense_Mutation_p.R391P	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	391						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)										0.085106	-0.437141	7.774675	4	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71444226	71444226	12011	14	G	C	C	C	507	39	PCNX	3	3
ENTPD5	957	broad.mit.edu	37	14	74439636	74439636	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74439636G>A	uc010tuo.1	-	c.978C>T	c.(976-978)TTC>TTT	p.F326F	ENTPD5_uc001xpi.2_Silent_p.F326F	NM_001249	NP_001240	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	326					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00394)										0.074468	-3.012925	32.125487	14	174	KEEP	---	---	---	---	capture		Silent	SNP	74439636	74439636	5335	14	G	A	A	A	425	33	ENTPD5	2	2
TMEM63C	57156	broad.mit.edu	37	14	77715676	77715676	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:77715676A>G	uc001xtf.2	+	c.1913A>G	c.(1912-1914)AAC>AGC	p.N638S	TMEM63C_uc010asq.1_Missense_Mutation_p.N638S	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	638						integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)										0.077922	1.899896	15.914366	6	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77715676	77715676	16731	14	A	G	G	G	26	2	TMEM63C	4	4
ADCK1	57143	broad.mit.edu	37	14	78399723	78399723	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:78399723G>C	uc001xui.2	+	c.1561G>C	c.(1561-1563)GCT>CCT	p.A521P	ADCK1_uc001xuj.2_Missense_Mutation_p.A453P|ADCK1_uc001xul.2_Missense_Mutation_p.A228P	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1 isoform a	528						extracellular region	ATP binding|protein serine/threonine kinase activity			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)						200				0.054795	-5.921646	9.280525	4	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78399723	78399723	289	14	G	C	C	C	598	46	ADCK1	3	3
STON2	85439	broad.mit.edu	37	14	81744278	81744278	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81744278C>A	uc001xvk.1	-	c.1377G>T	c.(1375-1377)CTG>CTT	p.L459L	STON2_uc010tvu.1_Silent_p.L459L|STON2_uc010tvt.1_Silent_p.L256L	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	459	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			pancreas(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0348)										0.076142	-4.672754	31.772738	15	182	KEEP	---	---	---	---	capture		Silent	SNP	81744278	81744278	15838	14	C	A	A	A	314	25	STON2	2	2
C14orf102	55051	broad.mit.edu	37	14	90755074	90755074	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:90755074A>T	uc001xyi.1	-	c.2645T>A	c.(2644-2646)CTG>CAG	p.L882Q	C14orf102_uc010atp.1_Missense_Mutation_p.L387Q|C14orf102_uc001xyj.1_Missense_Mutation_p.L651Q|C14orf102_uc001xyk.1_Missense_Mutation_p.L74Q	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	882							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)										0.142857	8.852244	13.153424	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90755074	90755074	1783	14	A	T	T	T	91	7	C14orf102	3	3
FBLN5	10516	broad.mit.edu	37	14	92353602	92353602	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:92353602T>A	uc010aue.2	-	c.797A>T	c.(796-798)TAC>TTC	p.Y266F	FBLN5_uc010aud.2_Missense_Mutation_p.Y230F|FBLN5_uc001xzx.3_Missense_Mutation_p.Y225F	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	225	EGF-like 4; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|lung(1)|skin(1)	5		all_cancers(154;0.0722)								478				0.086022	2.445685	18.580463	8	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92353602	92353602	5936	14	T	A	A	A	741	57	FBLN5	3	3
SERPINA12	145264	broad.mit.edu	37	14	94964191	94964191	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94964191T>G	uc001ydj.2	-	c.544A>C	c.(544-546)AGT>CGT	p.S182R		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	182					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)						148				0.136364	14.850188	26.121611	12	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94964191	94964191	14577	14	T	G	G	G	715	55	SERPINA12	4	4
SERPINA4	5267	broad.mit.edu	37	14	95030068	95030068	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:95030068G>T	uc010avd.2	+	c.360G>T	c.(358-360)TCG>TCT	p.S120S	SERPINA4_uc001ydk.2_Silent_p.S83S|SERPINA4_uc001ydl.2_Silent_p.S83S	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	83					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)	3				COAD - Colon adenocarcinoma(157;0.211)										0.052632	-5.006877	7.030123	3	54	KEEP	---	---	---	---	capture		Silent	SNP	95030068	95030068	14579	14	G	T	T	T	496	39	SERPINA4	1	1
GABRA5	2558	broad.mit.edu	37	15	27159994	27159994	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:27159994C>T	uc001zbd.1	+	c.542C>T	c.(541-543)CCG>CTG	p.P181L	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	181	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)									0.073171	-0.298091	7.372682	3	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27159994	27159994	6415	15	C	T	T	T	299	23	GABRA5	1	1
GABRG3	2567	broad.mit.edu	37	15	27572050	27572050	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:27572050T>A	uc001zbg.1	+	c.365T>A	c.(364-366)ATG>AAG	p.M122K	GABRG3_uc001zbf.2_Missense_Mutation_p.M122K	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	122	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		NSCLC(114;800 1656 7410 37729 45293)								0.085106	1.86533	10.069429	4	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27572050	27572050	6424	15	T	A	A	A	663	51	GABRG3	3	3
APBA2	321	broad.mit.edu	37	15	29346661	29346661	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:29346661G>T	uc001zck.2	+	c.574G>T	c.(574-576)GGC>TGC	p.G192C	APBA2_uc010azj.2_Missense_Mutation_p.G192C|APBA2_uc010uat.1_Missense_Mutation_p.G192C|APBA2_uc001zcl.2_Missense_Mutation_p.G192C|APBA2_uc010uas.1_Missense_Mutation_p.G192C	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	192	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)										0.291667	15.729331	16.655363	7	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29346661	29346661	767	15	G	T	T	T	559	43	APBA2	2	2
TRPM1	4308	broad.mit.edu	37	15	31355463	31355463	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31355463C>A	uc001zfm.2	-	c.757G>T	c.(757-759)GTG>TTG	p.V253L	TRPM1_uc010azy.2_Missense_Mutation_p.V166L|TRPM1_uc001zfl.2_Non-coding_Transcript	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	253	Extracellular (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)										0.081081	0.851554	14.028451	6	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31355463	31355463	17136	15	C	A	A	A	247	19	TRPM1	1	1
RYR3	6263	broad.mit.edu	37	15	33990137	33990137	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33990137G>T	uc001zhi.2	+	c.6189G>T	c.(6187-6189)CTG>CTT	p.L2063L	RYR3_uc010bar.2_Silent_p.L2063L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2063	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.150943	15.278709	21.453918	8	45	KEEP	---	---	---	---	capture		Silent	SNP	33990137	33990137	14250	15	G	T	T	T	600	47	RYR3	2	2
RYR3	6263	broad.mit.edu	37	15	34015046	34015046	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34015046C>A	uc001zhi.2	+	c.6750C>A	c.(6748-6750)ATC>ATA	p.I2250I	RYR3_uc010bar.2_Silent_p.I2250I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2250	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.078652	-2.247423	13.903429	7	82	KEEP	---	---	---	---	capture		Silent	SNP	34015046	34015046	14250	15	C	A	A	A	408	32	RYR3	2	2
LCMT2	9836	broad.mit.edu	37	15	43621883	43621883	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43621883C>A	uc001zrg.2	-	c.805G>T	c.(805-807)GTG>TTG	p.V269L	LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	269					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)									0.105263	6.628601	15.437691	6	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43621883	43621883	9003	15	C	A	A	A	247	19	LCMT2	1	1
MFAP1	4236	broad.mit.edu	37	15	44102041	44102041	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:44102041C>A	uc001zth.1	-	c.959G>T	c.(958-960)CGG>CTG	p.R320L		NM_005926	NP_005917	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	320						microfibril				skin(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)										0.064286	-7.601708	19.999101	9	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44102041	44102041	9903	15	C	A	A	A	299	23	MFAP1	1	1
SEMA6D	80031	broad.mit.edu	37	15	48056105	48056105	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48056105T>C	uc010bek.2	+	c.806T>C	c.(805-807)GTC>GCC	p.V269A	SEMA6D_uc001zvw.2_Missense_Mutation_p.V269A|SEMA6D_uc001zvx.1_Missense_Mutation_p.V269A|SEMA6D_uc001zvy.2_Missense_Mutation_p.V269A|SEMA6D_uc001zvz.2_Missense_Mutation_p.V269A|SEMA6D_uc001zwa.2_Missense_Mutation_p.V269A|SEMA6D_uc001zwb.2_Missense_Mutation_p.V269A|SEMA6D_uc001zwc.2_Missense_Mutation_p.V269A	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	269	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			breast(1)	1		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)										0.142857	22.675503	32.975514	12	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48056105	48056105	14528	15	T	C	C	C	754	58	SEMA6D	4	4
SEMA6D	80031	broad.mit.edu	37	15	48063273	48063273	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48063273A>G	uc010bek.2	+	c.2513A>G	c.(2512-2514)AAC>AGC	p.N838S	SEMA6D_uc001zvw.2_Missense_Mutation_p.N776S|SEMA6D_uc001zvy.2_Missense_Mutation_p.N838S|SEMA6D_uc001zvz.2_Missense_Mutation_p.N782S|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.N776S|SEMA6D_uc001zwc.2_Missense_Mutation_p.N763S	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	838	Cytoplasmic (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			breast(1)	1		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)										0.12963	11.39549	18.598184	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48063273	48063273	14528	15	A	G	G	G	26	2	SEMA6D	4	4
FBN1	2200	broad.mit.edu	37	15	48729176	48729176	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48729176C>A	uc001zwx.1	-	c.6478G>T	c.(6478-6480)GCA>TCA	p.A2160S	FBN1_uc010beo.1_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2160	EGF-like 36; calcium-binding.		A -> P (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)						2933				0.188679	19.214831	24.045143	10	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48729176	48729176	5938	15	C	A	A	A	364	28	FBN1	2	2
GRINL1A	81488	broad.mit.edu	37	15	58001046	58001046	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:58001046A>T	uc002aet.3	+	c.248A>T	c.(247-249)AAG>ATG	p.K83M	GCOM1_uc002aem.2_Intron|GCOM1_uc002aeq.2_Intron|GCOM1_uc002aen.2_Intron|GCOM1_uc010bfy.2_Intron|GCOM1_uc002aeo.2_Intron|GCOM1_uc002aep.2_Non-coding_Transcript|GCOM1_uc010bfx.2_Intron|GRINL1A_uc002aes.2_Intron|GRINL1A_uc002aev.1_3'UTR|GRINL1A_uc010ugu.1_Non-coding_Transcript|GRINL1A_uc002aeu.3_Intron	NM_015532	NP_056347	P0CAP1	GCOM1_HUMAN	glutamate receptor, ionotropic, N-methyl	380	Potential.										0				all cancers(107;0.0697)|GBM - Glioblastoma multiforme(80;0.12)										0.12069	9.613088	17.76937	7	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58001046	58001046	7065	15	A	T	T	T	39	3	GRINL1A	3	3
ALDH1A2	8854	broad.mit.edu	37	15	58285171	58285171	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:58285171G>T	uc002aex.2	-	c.656C>A	c.(655-657)GCA>GAA	p.A219E	ALDH1A2_uc002aey.2_Missense_Mutation_p.A219E|ALDH1A2_uc010ugv.1_Missense_Mutation_p.A198E|ALDH1A2_uc010ugw.1_Missense_Mutation_p.A190E|ALDH1A2_uc002aew.2_Missense_Mutation_p.A123E	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	219					negative regulation of cell proliferation|neural tube development|oxidation-reduction process|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)									0.109589	8.596876	19.568468	8	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58285171	58285171	494	15	G	T	T	T	598	46	ALDH1A2	2	2
HERC1	8925	broad.mit.edu	37	15	63955193	63955193	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:63955193C>A	uc002amp.2	-	c.8891G>T	c.(8890-8892)TGG>TTG	p.W2964L		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2964					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(5)|central_nervous_system(2)|lung(1)|breast(1)	9														0.222222	10.003089	11.271674	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63955193	63955193	7340	15	C	A	A	A	273	21	HERC1	2	2
IGDCC3	9543	broad.mit.edu	37	15	65622728	65622728	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65622728A>T	uc002aos.2	-	c.1761T>A	c.(1759-1761)ACT>ACA	p.T587T	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	587	Extracellular (Potential).|Fibronectin type-III 2.									ovary(3)	3														0.070175	-1.40602	9.424162	4	53	KEEP	---	---	---	---	capture		Silent	SNP	65622728	65622728	7869	15	A	T	T	T	80	7	IGDCC3	3	3
IGDCC4	57722	broad.mit.edu	37	15	65677373	65677373	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65677373C>A	uc002aou.1	-	c.3261G>T	c.(3259-3261)CCG>CCT	p.P1087P	IGDCC4_uc002aot.1_Silent_p.P675P	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	1087	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)	2												OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.139535	7.724517	13.127771	6	37	KEEP	---	---	---	---	capture		Silent	SNP	65677373	65677373	7870	15	C	A	A	A	288	23	IGDCC4	1	1
IGDCC4	57722	broad.mit.edu	37	15	65702597	65702597	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65702597C>A	uc002aou.1	-	c.482G>T	c.(481-483)CGC>CTC	p.R161L		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	161	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(1)|pancreas(1)	2														0.078431	0.383637	9.623733	4	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65702597	65702597	7870	15	C	A	A	A	351	27	IGDCC4	1	1
SPESP1	246777	broad.mit.edu	37	15	69238614	69238614	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:69238614C>G	uc002arn.1	+	c.741C>G	c.(739-741)AAC>AAG	p.N247K	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	247					multicellular organismal development	acrosomal vesicle					0														0.102041	4.401466	12.095413	5	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69238614	69238614	15552	15	C	G	G	G	233	18	SPESP1	3	3
ARIH1	25820	broad.mit.edu	37	15	72873191	72873191	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:72873191G>T	uc002aut.3	+	c.1335G>T	c.(1333-1335)ATG>ATT	p.M445I		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	ariadne ubiquitin-conjugating enzyme E2 binding	445	Potential.				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	protein binding|small conjugating protein ligase activity|zinc ion binding				0														0.153846	19.104978	26.554062	10	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72873191	72873191	938	15	G	T	T	T	598	46	ARIH1	2	2
PML	5371	broad.mit.edu	37	15	74337270	74337270	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74337270C>T	uc002awv.2	+	c.2570C>T	c.(2569-2571)CCG>CTG	p.P857L	PML_uc002awu.2_Missense_Mutation_p.P809L|PML_uc010ule.1_Missense_Mutation_p.P418L	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	857					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)	4										214				0.142857	18.21989	26.809309	10	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74337270	74337270	12561	15	C	T	T	T	299	23	PML	1	1
SIN3A	25942	broad.mit.edu	37	15	75684637	75684637	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75684637T>C	uc002bai.2	-	c.2797A>G	c.(2797-2799)ATA>GTA	p.I933V	SIN3A_uc002baj.2_Missense_Mutation_p.I933V|SIN3A_uc010uml.1_Missense_Mutation_p.I933V	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	933					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			ovary(1)|lung(1)	2														0.164062	37.923117	51.624057	21	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75684637	75684637	14820	15	T	C	C	C	663	51	SIN3A	4	4
SNUPN	10073	broad.mit.edu	37	15	75890754	75890754	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75890754T>A	uc002bap.2	-	c.1154A>T	c.(1153-1155)AAG>ATG	p.K385M	SNUPN_uc002ban.2_Missense_Mutation_p.K343M|SNUPN_uc002bao.2_Missense_Mutation_p.K343M|SNUPN_uc002baq.2_Missense_Mutation_p.K343M|SNUPN_uc002bar.2_Missense_Mutation_p.K343M|SNUPN_uc002bas.2_Missense_Mutation_p.K343M	NM_005701	NP_005692	O95149	SPN1_HUMAN	snurportin 1	343					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			pancreas(1)	1														0.16	15.570971	21.072168	8	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75890754	75890754	15377	15	T	A	A	A	728	56	SNUPN	3	3
CSPG4	1464	broad.mit.edu	37	15	75981912	75981912	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75981912G>T	uc002baw.2	-	c.1494C>A	c.(1492-1494)GAC>GAA	p.D498E		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	498	Extracellular (Potential).|CSPG 1.|Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3										549				0.086957	2.83641	14.717981	6	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75981912	75981912	4101	15	G	T	T	T	516	40	CSPG4	1	1
FSD2	123722	broad.mit.edu	37	15	83455968	83455968	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83455968C>A	uc002bjd.2	-	c.175G>T	c.(175-177)GGG>TGG	p.G59W	FSD2_uc010uol.1_Missense_Mutation_p.G59W|FSD2_uc010uom.1_Missense_Mutation_p.G59W	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing	59										central_nervous_system(1)	1														0.064935	-4.57254	10.557037	5	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83455968	83455968	6322	15	C	A	A	A	312	24	FSD2	2	2
BNC1	646	broad.mit.edu	37	15	83931874	83931874	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83931874G>C	uc002bjt.1	-	c.2129C>G	c.(2128-2130)GCA>GGA	p.A710G	BNC1_uc010uos.1_Missense_Mutation_p.A698G	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	710					epidermis development|positive regulation of cell proliferation|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3														0.084507	3.095246	15.535537	6	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83931874	83931874	1499	15	G	C	C	C	598	46	BNC1	3	3
ADAMTSL3	57188	broad.mit.edu	37	15	84611675	84611675	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:84611675G>C	uc002bjz.3	+	c.2331G>C	c.(2329-2331)GGG>GGC	p.G777G	ADAMTSL3_uc010bmt.1_Silent_p.G777G|ADAMTSL3_uc010bmu.1_Silent_p.G777G	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	777	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			central_nervous_system(5)|ovary(5)|large_intestine(4)|lung(1)|breast(1)|kidney(1)|pancreas(1)	18			BRCA - Breast invasive adenocarcinoma(143;0.211)							580				0.192308	10.080311	12.364461	5	21	KEEP	---	---	---	---	capture		Silent	SNP	84611675	84611675	277	15	G	C	C	C	548	43	ADAMTSL3	3	3
ACAN	176	broad.mit.edu	37	15	89400832	89400832	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89400832C>A	uc010upo.1	+	c.5016C>A	c.(5014-5016)GCC>GCA	p.A1672A	ACAN_uc010upp.1_Silent_p.A1672A|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359			aggrecan isoform 2 precursor											ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)											0.06	-7.422143	12.812479	6	94	KEEP	---	---	---	---	capture		Silent	SNP	89400832	89400832	118	15	C	A	A	A	301	24	ACAN	2	2
BLM	641	broad.mit.edu	37	15	91303889	91303889	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:91303889G>A	uc002bpr.2	+	c.1286G>A	c.(1285-1287)AGA>AAA	p.R429K	BLM_uc010uqh.1_Missense_Mutation_p.R429K|BLM_uc010uqi.1_Missense_Mutation_p.R54K|BLM_uc010bnx.2_Missense_Mutation_p.R429K|BLM_uc002bps.1_5'UTR	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	429					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)	3	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)							462				0.060606	-7.991775	18.616916	8	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91303889	91303889	1470	15	G	A	A	A	429	33	BLM	2	2
SV2B	9899	broad.mit.edu	37	15	91803568	91803568	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:91803568G>A	uc002bqv.2	+	c.937G>A	c.(937-939)GCC>ACC	p.A313T	SV2B_uc002bqt.2_Missense_Mutation_p.A313T|SV2B_uc010uqv.1_Missense_Mutation_p.A162T|SV2B_uc002bqu.3_Non-coding_Transcript	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	313	Cytoplasmic (Potential).				neurotransmitter transport|transmembrane transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|central_nervous_system(2)	5	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)											0.138889	17.535242	26.580402	10	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91803568	91803568	15938	15	G	A	A	A	442	34	SV2B	2	2
CPPED1	55313	broad.mit.edu	37	16	12758931	12758931	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:12758931C>G	uc002dca.3	-	c.757G>C	c.(757-759)GGG>CGG	p.G253R	CPPED1_uc002dcb.3_Missense_Mutation_p.G111R|CPPED1_uc002dbz.3_Non-coding_Transcript	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	253							hydrolase activity|metal ion binding				0														0.128205	8.653851	13.901384	5	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12758931	12758931	3960	16	C	G	G	G	299	23	CPPED1	3	3
CRAMP1L	57585	broad.mit.edu	37	16	1710023	1710023	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1710023G>T	uc010uvh.1	+	c.2372G>T	c.(2371-2373)AGC>ATC	p.S791I	CRAMP1L_uc002cmf.2_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	791						nucleus	DNA binding				0														0.2	6.816343	8.071973	3	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1710023	1710023	3985	16	G	T	T	T	442	34	CRAMP1L	2	2
XYLT1	64131	broad.mit.edu	37	16	17202756	17202756	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:17202756C>A	uc002dfa.2	-	c.2676G>T	c.(2674-2676)CGG>CGT	p.R892R		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	892	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			ovary(4)	4														0.106061	4.475135	14.653394	7	59	KEEP	---	---	---	---	capture		Silent	SNP	17202756	17202756	18046	16	C	A	A	A	379	30	XYLT1	2	2
ARL6IP1	23204	broad.mit.edu	37	16	18810034	18810034	+	Silent	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:18810034A>G	uc002dfl.1	-	c.159T>C	c.(157-159)TCT>TCC	p.S53S	ARL6IP1_uc010van.1_Silent_p.S24S|ARL6IP1_uc010bvz.1_Non-coding_Transcript	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	53	Helical; (Potential).					integral to membrane	protein binding				0														0.076087	-0.372386	16.683714	7	85	KEEP	---	---	---	---	capture		Silent	SNP	18810034	18810034	960	16	A	G	G	G	28	3	ARL6IP1	4	4
ITPRIPL2	162073	broad.mit.edu	37	16	19127126	19127126	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:19127126G>T	uc002dfu.3	+	c.1343G>T	c.(1342-1344)CGC>CTC	p.R448L	ITPRIPL2_uc002dft.2_Missense_Mutation_p.R144L	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	448	Cytoplasmic (Potential).					integral to membrane					0														0.113208	12.619285	28.357314	12	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19127126	19127126	8229	16	G	T	T	T	494	38	ITPRIPL2	1	1
UMOD	7369	broad.mit.edu	37	16	20357478	20357478	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20357478G>T	uc002dhb.2	-	c.1251C>A	c.(1249-1251)GCC>GCA	p.A417A	UMOD_uc002dgz.2_Silent_p.A384A|UMOD_uc002dha.2_Silent_p.A384A	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	384	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)	1														0.103448	2.035834	6.548581	3	26	KEEP	---	---	---	---	capture		Silent	SNP	20357478	20357478	17537	16	G	T	T	T	548	43	UMOD	2	2
DCUN1D3	123879	broad.mit.edu	37	16	20873563	20873563	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20873563C>G	uc002dhz.2	-	c.298G>C	c.(298-300)GAT>CAT	p.D100H	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain	100	DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				ovary(2)	2				GBM - Glioblastoma multiforme(48;0.249)										0.102041	18.831836	42.024437	15	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20873563	20873563	4486	16	C	G	G	G	390	30	DCUN1D3	3	3
ANKS4B	257629	broad.mit.edu	37	16	21245167	21245167	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21245167C>G	uc010bwp.1	+	c.109C>G	c.(109-111)CTC>GTC	p.L37V		NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	37	ANK 1.									ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)										0.042254	-8.937666	7.036215	3	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21245167	21245167	699	16	C	G	G	G	416	32	ANKS4B	3	3
HS3ST2	9956	broad.mit.edu	37	16	22826315	22826315	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:22826315G>C	uc002dli.2	+	c.384G>C	c.(382-384)CGG>CGC	p.R128R	HS3ST2_uc002dlj.2_Non-coding_Transcript	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	128	PAPS and substrate (By similarity).|Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)										0.192308	11.572499	13.861566	5	21	KEEP	---	---	---	---	capture		Silent	SNP	22826315	22826315	7658	16	G	C	C	C	548	43	HS3ST2	3	3
USP31	57478	broad.mit.edu	37	16	23080339	23080339	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23080339G>C	uc002dll.2	-	c.3087C>G	c.(3085-3087)TCC>TCG	p.S1029S	USP31_uc002dlk.2_Silent_p.S301S|USP31_uc010vca.1_Silent_p.S332S|USP31_uc010bxm.2_Silent_p.S317S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1029	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0187)										0.153846	20.048877	28.988601	12	66	KEEP	---	---	---	---	capture		Silent	SNP	23080339	23080339	17626	16	G	C	C	C	600	47	USP31	3	3
USP31	57478	broad.mit.edu	37	16	23085137	23085137	+	Silent	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23085137C>G	uc002dll.2	-	c.2241G>C	c.(2239-2241)CTG>CTC	p.L747L	USP31_uc002dlk.2_5'Flank|USP31_uc010vca.1_Silent_p.L50L|USP31_uc010bxm.2_Silent_p.L35L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	747					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0187)										0.129032	7.377593	11.532114	4	27	KEEP	---	---	---	---	capture		Silent	SNP	23085137	23085137	17626	16	C	G	G	G	210	17	USP31	3	3
COG7	91949	broad.mit.edu	37	16	23436189	23436189	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23436189C>A	uc002dlo.2	-	c.890G>T	c.(889-891)TGC>TTC	p.C297F		NM_153603	NP_705831	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	297					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0				GBM - Glioblastoma multiforme(48;0.0401)										0.114754	6.982113	15.913586	7	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23436189	23436189	3801	16	C	A	A	A	325	25	COG7	2	2
PALB2	79728	broad.mit.edu	37	16	23640575	23640575	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23640575C>A	uc002dlx.1	-	c.2536G>T	c.(2536-2538)GCT>TCT	p.A846S		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	846					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				0.079365	0.126629	11.504453	5	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23640575	23640575	11822	16	C	A	A	A	325	25	PALB2	2	2
PALB2	79728	broad.mit.edu	37	16	23646849	23646849	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23646849T>G	uc002dlx.1	-	c.1018A>C	c.(1018-1020)AAT>CAT	p.N340H		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	340					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				0.110092	13.618062	30.021163	12	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23646849	23646849	11822	16	T	G	G	G	832	64	PALB2	4	4
SLC5A11	115584	broad.mit.edu	37	16	24888606	24888606	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24888606A>T	uc002dmu.2	+	c.505A>T	c.(505-507)ATC>TTC	p.I169F	SLC5A11_uc002dms.2_Missense_Mutation_p.I105F|SLC5A11_uc010vcd.1_Missense_Mutation_p.I134F|SLC5A11_uc002dmt.2_Missense_Mutation_p.I105F|SLC5A11_uc010vce.1_Missense_Mutation_p.I99F|SLC5A11_uc010bxt.2_Missense_Mutation_p.I105F	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	169	Extracellular (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)										0.056782	-23.971251	41.390588	18	299	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24888606	24888606	15160	16	A	T	T	T	104	8	SLC5A11	3	3
ITGAL	3683	broad.mit.edu	37	16	30532894	30532894	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30532894G>A	uc002dyi.3	+	c.3421G>A	c.(3421-3423)GAG>AAG	p.E1141K	ITGAL_uc002dyj.3_Missense_Mutation_p.E1057K|ITGAL_uc010vev.1_Missense_Mutation_p.E375K	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	1141	Cytoplasmic (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(1)	7					Efalizumab(DB00095)	NSCLC(110;1462 1641 3311 33990 49495)								0.083333	-0.374427	10.220108	5	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30532894	30532894	8190	16	G	A	A	A	585	45	ITGAL	2	2
SRCAP	10847	broad.mit.edu	37	16	30750714	30750714	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:30750714G>T	uc002dze.1	+	c.9353G>T	c.(9352-9354)CGC>CTC	p.R3118L	SRCAP_uc002dzf.2_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.R2913L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	3118					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)	3			Colorectal(24;0.198)											0.090909	3.146751	10.497056	4	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30750714	30750714	15649	16	G	T	T	T	494	38	SRCAP	1	1
ITGAM	3684	broad.mit.edu	37	16	31308933	31308933	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31308933G>T	uc002ebr.2	+	c.1455G>T	c.(1453-1455)CAG>CAT	p.Q485H	ITGAM_uc002ebq.2_Missense_Mutation_p.Q485H|ITGAM_uc010cam.1_Missense_Mutation_p.D89Y|ITGAM_uc010can.2_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	integrin alpha M isoform 1 precursor	485	FG-GAP 5.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1														0.152174	17.187337	27.859191	14	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31308933	31308933	8191	16	G	T	T	T	425	33	ITGAM	2	2
ITGAD	3681	broad.mit.edu	37	16	31409184	31409185	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31409184_31409185GG>TT	uc010cap.1	+	c.381_382GG>TT	c.(379-384)CTGGGC>CTTTGC	p.G128C	ITGAD_uc010vfl.1_Missense_Mutation_p.G128C|ITGAD_uc002ebv.1_Missense_Mutation_p.G128C|ITGAD_uc002ebw.1_5'UTR	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	128	FG-GAP 2.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.153846	7.887226	10.862331	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	31409184	31409185	8188	16	GG	TT	TT	TT	600	47	ITGAD	2	2
NETO2	81831	broad.mit.edu	37	16	47162481	47162481	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:47162481G>C	uc002eer.1	-	c.236C>G	c.(235-237)GCT>GGT	p.A79G	NETO2_uc010vgf.1_5'UTR|NETO2_uc002ees.1_Missense_Mutation_p.A79G	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	79	Extracellular (Potential).|CUB 1.					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)												0.163462	38.506924	49.698336	17	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47162481	47162481	10739	16	G	C	C	C	442	34	NETO2	3	3
N4BP1	9683	broad.mit.edu	37	16	48585318	48585318	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48585318C>A	uc002efp.2	-	c.2096G>T	c.(2095-2097)AGA>ATA	p.R699I		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Nedd4 binding protein 1	699					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)												0.069307	-5.034436	14.308024	7	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48585318	48585318	10504	16	C	A	A	A	416	32	N4BP1	2	2
CETP	1071	broad.mit.edu	37	16	57015098	57015098	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57015098A>T	uc002eki.2	+	c.1175A>T	c.(1174-1176)TAT>TTT	p.Y392F	CETP_uc002ekj.2_Missense_Mutation_p.Y332F	NM_000078	NP_000069	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	392				Y->S: Not secreted.	cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|reverse cholesterol transport|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			central_nervous_system(1)	1														0.084211	2.159404	18.80494	8	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57015098	57015098	3410	16	A	T	T	T	208	16	CETP	3	3
GOT2	2806	broad.mit.edu	37	16	58756164	58756164	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:58756164C>A	uc002eof.1	-	c.265G>T	c.(265-267)GCA>TCA	p.A89S	GOT2_uc010vim.1_Intron	NM_002080	NP_002071	P00505	AATM_HUMAN	aspartate aminotransferase 2 precursor	89					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)	1					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)									0.206897	25.963056	30.600107	12	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58756164	58756164	6854	16	C	A	A	A	351	27	GOT2	1	1
CDH11	1009	broad.mit.edu	37	16	64981755	64981755	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:64981755G>C	uc002eoi.2	-	c.2142C>G	c.(2140-2142)AGC>AGG	p.S714R	CDH11_uc010cdn.2_Non-coding_Transcript|CDH11_uc002eoj.2_3'UTR|CDH11_uc010vin.1_Missense_Mutation_p.S588R	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	714	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(7)|ovary(2)	9		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)						239	TSP Lung(24;0.17)			0.058824	-5.395458	11.83801	5	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64981755	64981755	3226	16	G	C	C	C	490	38	CDH11	3	3
ZFP90	146198	broad.mit.edu	37	16	68598507	68598507	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68598507A>G	uc010cff.2	+	c.1817A>G	c.(1816-1818)GAA>GGA	p.E606G	ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Missense_Mutation_p.E606G|ZFP90_uc002ewe.2_Missense_Mutation_p.E606G	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	606					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)										0.103896	6.77113	18.772869	8	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68598507	68598507	18243	16	A	G	G	G	117	9	ZFP90	4	4
KIAA0174	9798	broad.mit.edu	37	16	71954700	71954700	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71954700A>T	uc002fbk.1	+	c.416A>T	c.(415-417)AAC>ATC	p.N139I	KIAA0174_uc002fbj.1_Missense_Mutation_p.N152I|KIAA0174_uc010cgh.1_Missense_Mutation_p.N152I|KIAA0174_uc002fbm.1_Missense_Mutation_p.N139I|KIAA0174_uc002fbl.1_Missense_Mutation_p.N139I|KIAA0174_uc002fbn.1_5'UTR|KIAA0174_uc010cgi.1_Intron|KIAA0174_uc010cgj.1_Missense_Mutation_p.N71I|KIAA0174_uc010vml.1_5'Flank|KIAA0174_uc010vmk.1_Intron	NM_014761	NP_055576	P53990	IST1_HUMAN	MAPK activating protein PM28	139	Interaction with VPS37B.|Interaction with CHMP1A and CHMP1B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding			ovary(1)	1														0.105263	0.642553	6.671357	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71954700	71954700	8465	16	A	T	T	T	26	2	KIAA0174	3	3
ADAMTS18	170692	broad.mit.edu	37	16	77396106	77396106	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77396106C>A	uc002ffc.3	-	c.1112G>T	c.(1111-1113)TGG>TTG	p.W371L	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.W67L|ADAMTS18_uc010vni.1_Intron	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	371	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.179487	14.516791	18.273892	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77396106	77396106	264	16	C	A	A	A	273	21	ADAMTS18	2	2
PKD1L2	114780	broad.mit.edu	37	16	81181756	81181756	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81181756C>A	uc002fgh.1	-	c.4960G>T	c.(4960-4962)GCA>TCA	p.A1654S	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1654	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.214286	6.916836	7.972649	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81181756	81181756	12389	16	C	A	A	A	338	26	PKD1L2	2	2
CRISPLD2	83716	broad.mit.edu	37	16	84907567	84907567	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:84907567A>T	uc010voh.1	+	c.1154A>T	c.(1153-1155)AAA>ATA	p.K385I	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Missense_Mutation_p.K384I|CRISPLD2_uc002fin.3_Missense_Mutation_p.K385I	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain	385	LCCL 2.					extracellular region|transport vesicle					0														0.175439	37.534325	48.858729	20	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84907567	84907567	4022	16	A	T	T	T	13	1	CRISPLD2	3	3
ZNF778	197320	broad.mit.edu	37	16	89294046	89294046	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:89294046G>T	uc002fmv.2	+	c.1266G>T	c.(1264-1266)ACG>ACT	p.T422T	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.T380T|ZNF778_uc010vpg.1_Silent_p.T185T	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	422	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)										0.083333	1.511272	7.849177	3	33	KEEP	---	---	---	---	capture		Silent	SNP	89294046	89294046	18749	16	G	T	T	T	509	40	ZNF778	1	1
MYH2	4620	broad.mit.edu	37	17	10433048	10433048	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10433048G>T	uc010coi.2	-	c.2950C>A	c.(2950-2952)CTC>ATC	p.L984I	MYH2_uc002gmp.3_Missense_Mutation_p.L984I|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	984	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.089744	7.505144	47.25168	21	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10433048	10433048	10430	17	G	T	T	T	455	35	MYH2	2	2
DNAH9	1770	broad.mit.edu	37	17	11593206	11593206	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11593206T>A	uc002gne.2	+	c.4067T>A	c.(4066-4068)TTC>TAC	p.F1356Y	DNAH9_uc010coo.2_Missense_Mutation_p.F650Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1356	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.45	23.868816	23.911948	9	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11593206	11593206	4791	17	T	A	A	A	806	62	DNAH9	3	3
DNAH9	1770	broad.mit.edu	37	17	11593507	11593507	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:11593507G>A	uc002gne.2	+	c.4368G>A	c.(4366-4368)CGG>CGA	p.R1456R	DNAH9_uc010coo.2_Silent_p.R750R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1456	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	10		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)										0.322034	55.08491	56.703148	19	40	KEEP	---	---	---	---	capture		Silent	SNP	11593507	11593507	4791	17	G	A	A	A	522	41	DNAH9	2	2
SLC5A10	125206	broad.mit.edu	37	17	18922899	18922899	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18922899G>C	uc002gut.1	+	c.1453G>C	c.(1453-1455)GAG>CAG	p.E485Q	SLC5A10_uc002gur.1_Missense_Mutation_p.E439Q|SLC5A10_uc002guu.1_Missense_Mutation_p.E469Q|SLC5A10_uc002guv.1_Missense_Mutation_p.E442Q|SLC5A10_uc010vyl.1_Missense_Mutation_p.E433Q|SLC5A10_uc002gux.1_Non-coding_Transcript	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	469	Cytoplasmic (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1														0.363636	26.896501	27.255409	8	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18922899	18922899	15159	17	G	C	C	C	481	37	SLC5A10	3	3
NUFIP2	57532	broad.mit.edu	37	17	27613955	27613955	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27613955C>G	uc002hdy.3	-	c.1057G>C	c.(1057-1059)GTT>CTT	p.V353L	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	353						nucleus|polysomal ribosome	protein binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)											0.163462	38.109724	49.300628	17	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27613955	27613955	11154	17	C	G	G	G	260	20	NUFIP2	3	3
TMEM132E	124842	broad.mit.edu	37	17	32959728	32959728	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32959728C>T	uc002hif.2	+	c.1218C>T	c.(1216-1218)TCC>TCT	p.S406S		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	406	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)										0.166667	17.070609	22.126453	8	40	KEEP	---	---	---	---	capture		Silent	SNP	32959728	32959728	16580	17	C	T	T	T	262	21	TMEM132E	2	2
ITGAE	3682	broad.mit.edu	37	17	3656700	3656700	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3656700G>T	uc002fwo.3	-	c.1552C>A	c.(1552-1554)CTG>ATG	p.L518M		NM_002208	NP_002199	P38570	ITAE_HUMAN	integrin, alpha E precursor	518	FG-GAP 5.|Extracellular (Potential).				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			large_intestine(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		NSCLC(182;635 2928 8995 38788)				37				0.113636	3.519257	10.073762	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3656700	3656700	8189	17	G	T	T	T	438	34	ITGAE	2	2
FBXL20	84961	broad.mit.edu	37	17	37437684	37437684	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37437684T>A	uc010wed.1	-	c.654A>T	c.(652-654)GCA>GCT	p.A218A	FBXL20_uc002hrt.2_Silent_p.A218A|FBXL20_uc010cvu.2_Silent_p.A186A	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	218	LRR 6.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)											0.076923	0.403978	9.889889	4	48	KEEP	---	---	---	---	capture		Silent	SNP	37437684	37437684	5954	17	T	A	A	A	756	59	FBXL20	3	3
GRB7	2886	broad.mit.edu	37	17	37900435	37900435	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:37900435A>G	uc002hsr.2	+	c.776A>G	c.(775-777)TAT>TGT	p.Y259C	GRB7_uc002hss.2_Missense_Mutation_p.Y259C|GRB7_uc010cwc.2_Missense_Mutation_p.Y259C|GRB7_uc002hst.2_Missense_Mutation_p.Y259C	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	259	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration	cytosol	SH3/SH2 adaptor activity			lung(2)|ovary(1)	3	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)							187				0.027027	-42.836464	11.901176	6	216	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37900435	37900435	7036	17	A	G	G	G	208	16	GRB7	4	4
MED24	9862	broad.mit.edu	37	17	38183255	38183255	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38183255C>G	uc002hts.2	-	c.1638G>C	c.(1636-1638)GAG>GAC	p.E546D	MED24_uc010wes.1_Missense_Mutation_p.E381D|MED24_uc010wet.1_Intron|MED24_uc002htt.2_Missense_Mutation_p.E521D|MED24_uc002htu.2_Missense_Mutation_p.E508D|MED24_uc010cwn.2_Missense_Mutation_p.E508D|MED24_uc010weu.1_Missense_Mutation_p.E431D|MED24_uc010wev.1_Missense_Mutation_p.E471D|MED24_uc010wew.1_Missense_Mutation_p.E462D|MED24_uc010wex.1_Missense_Mutation_p.E226D|SNORD124_uc010wey.1_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	521					androgen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.304348	18.118004	18.902692	7	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38183255	38183255	9831	17	C	G	G	G	311	24	MED24	3	3
ATP2A3	489	broad.mit.edu	37	17	3839652	3839652	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3839652C>A	uc002fwy.1	-	c.2433G>T	c.(2431-2433)CCG>CCT	p.P811P	ATP2A3_uc002fwx.1_Silent_p.P811P|ATP2A3_uc002fwz.1_Silent_p.P811P|ATP2A3_uc002fxa.1_Silent_p.P811P|ATP2A3_uc002fxb.1_Silent_p.P811P|ATP2A3_uc002fxc.1_Silent_p.P811P|ATP2A3_uc002fxd.1_Silent_p.P811P	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform e	811	Cytoplasmic (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GBM(32;29 774 15719 37967)								0.084746	1.583053	11.857571	5	54	KEEP	---	---	---	---	capture		Silent	SNP	3839652	3839652	1157	17	C	A	A	A	340	27	ATP2A3	1	1
KRTAP4-12	83755	broad.mit.edu	37	17	39280335	39280335	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39280335C>A	uc002hwa.2	-	c.40G>T	c.(40-42)GGC>TGC	p.G14C		NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	14	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)											0.148649	15.504357	24.259936	11	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39280335	39280335	8872	17	C	A	A	A	286	22	KRTAP4-12	2	2
ZZEF1	23140	broad.mit.edu	37	17	3954138	3954138	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3954138T>G	uc002fxe.2	-	c.5800A>C	c.(5800-5802)ACC>CCC	p.T1934P	ZZEF1_uc002fxh.2_Missense_Mutation_p.T248P|ZZEF1_uc002fxi.2_Missense_Mutation_p.T169P|ZZEF1_uc002fxj.1_Missense_Mutation_p.T547P	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1934					regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	calcium ion binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.217391	26.159711	29.52266	10	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3954138	3954138	18861	17	T	G	G	G	767	59	ZZEF1	4	4
KRT38	8687	broad.mit.edu	37	17	39594757	39594757	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39594757C>A	uc002hwq.1	-	c.1006G>T	c.(1006-1008)GCC>TCC	p.A336S		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	336	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.000496)												0.096154	1.334106	9.854992	5	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39594757	39594757	8790	17	C	A	A	A	364	28	KRT38	2	2
GAST	2520	broad.mit.edu	37	17	39871799	39871799	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39871799G>T	uc002hxl.2	+	c.111G>T	c.(109-111)GGG>GGT	p.G37G	JUP_uc010wfs.1_Intron	NM_000805	NP_000796	P01350	GAST_HUMAN	gastrin preproprotein	37						extracellular region	hormone activity				0		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)											0.196721	53.231306	63.685475	24	98	KEEP	---	---	---	---	capture		Silent	SNP	39871799	39871799	6516	17	G	T	T	T	548	43	GAST	2	2
NT5C3L	115024	broad.mit.edu	37	17	39985171	39985171	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39985171G>A	uc002hyc.3	-	c.540C>T	c.(538-540)TAC>TAT	p.Y180Y	NT5C3L_uc002hxx.3_Silent_p.Y45Y|NT5C3L_uc010wfu.1_Silent_p.Y45Y|NT5C3L_uc002hyb.3_Silent_p.Y103Y|NT5C3L_uc002hyd.3_Silent_p.Y103Y|NT5C3L_uc002hxy.3_Silent_p.Y138Y|NT5C3L_uc002hxz.3_Silent_p.Y103Y|NT5C3L_uc002hya.3_Intron	NM_052935	NP_443167	C9JKC4	C9JKC4_HUMAN	5'-nucleotidase, cytosolic III-like	146						cytoplasm	5'-nucleotidase activity|magnesium ion binding				0		Breast(137;0.000162)		BRCA - Breast invasive adenocarcinoma(366;0.15)										0.16	20.073046	28.482614	12	63	KEEP	---	---	---	---	capture		Silent	SNP	39985171	39985171	11094	17	G	A	A	A	568	44	NT5C3L	2	2
ASB16	92591	broad.mit.edu	37	17	42248402	42248402	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42248402C>A	uc002ifl.1	+	c.245C>A	c.(244-246)GCC>GAC	p.A82D	ASB16_uc002ifm.1_Non-coding_Transcript	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box-containing protein	82	ANK 1.				intracellular signal transduction		protein binding			kidney(2)	2		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)										0.259259	16.811136	18.229944	7	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42248402	42248402	1038	17	C	A	A	A	338	26	ASB16	2	2
ITGA2B	3674	broad.mit.edu	37	17	42457994	42457994	+	Nonsense_Mutation	SNP	G	T	T	rs78218617		TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42457994G>T	uc002igt.1	-	c.1413C>A	c.(1411-1413)TAC>TAA	p.Y471*	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	471	Extracellular (Potential).|FG-GAP 7.				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)									0.065217	-2.710719	6.31854	3	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	42457994	42457994	8180	17	G	T	T	T	516	40	ITGA2B	5	1
GPATCH8	23131	broad.mit.edu	37	17	42477491	42477491	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42477491C>A	uc002igw.1	-	c.1954G>T	c.(1954-1956)GGG>TGG	p.G652W	GPATCH8_uc002igv.1_Missense_Mutation_p.G574W|GPATCH8_uc010wiz.1_Missense_Mutation_p.G574W	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	652						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)								OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.123288	11.166565	21.274272	9	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42477491	42477491	6868	17	C	A	A	A	273	21	GPATCH8	2	2
WNT9B	7484	broad.mit.edu	37	17	44953934	44953934	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44953934G>T	uc002ikw.1	+	c.924G>T	c.(922-924)GAG>GAT	p.E308D	WNT9B_uc002ikx.1_Intron	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	308					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding				0			BRCA - Breast invasive adenocarcinoma(9;0.0257)											0.092593	1.434188	10.457094	5	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44953934	44953934	17973	17	G	T	T	T	451	35	WNT9B	2	2
MYL4	4635	broad.mit.edu	37	17	45299181	45299181	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45299181G>T	uc002ilg.2	+	c.447G>T	c.(445-447)ACG>ACT	p.T149T	MYL4_uc002ilh.2_Silent_p.T149T	NM_001002841	NP_001002841	P12829	MYL4_HUMAN	atrial/embryonic alkali myosin light chain	149	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|motor activity|myosin II heavy chain binding|structural constituent of muscle			ovary(2)	2														0.236842	22.667049	25.064481	9	29	KEEP	---	---	---	---	capture		Silent	SNP	45299181	45299181	10444	17	G	T	T	T	496	39	MYL4	1	1
TMEM100	55273	broad.mit.edu	37	17	53798315	53798315	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:53798315C>A	uc002iuj.3	-	c.117G>T	c.(115-117)GAG>GAT	p.E39D	TMEM100_uc002iuk.3_Missense_Mutation_p.E39D	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	transmembrane protein 100	39						integral to membrane					0														0.178571	27.400102	35.552059	15	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53798315	53798315	16545	17	C	A	A	A	415	32	TMEM100	2	2
TRIM25	7706	broad.mit.edu	37	17	54969240	54969240	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:54969240T>G	uc002iut.2	-	c.1714A>C	c.(1714-1716)ACC>CCC	p.T572P	TRIM25_uc010dcj.2_Missense_Mutation_p.T364P	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	572	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)													0.102041	-0.648575	7.09996	5	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54969240	54969240	17043	17	T	G	G	G	767	59	TRIM25	4	4
OR4D2	124538	broad.mit.edu	37	17	56247135	56247135	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56247135T>C	uc010wnp.1	+	c.119T>C	c.(118-120)ATG>ACG	p.M40T		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2														0.183333	44.047927	55.394942	22	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56247135	56247135	11463	17	T	C	C	C	663	51	OR4D2	4	4
BZRAP1	9256	broad.mit.edu	37	17	56386312	56386312	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56386312C>A	uc002ivx.3	-	c.4321G>T	c.(4321-4323)GGA>TGA	p.G1441*	BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Nonsense_Mutation_p.G1381*|BZRAP1_uc010wnt.1_Nonsense_Mutation_p.G1441*	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1441						mitochondrion	benzodiazepine receptor binding				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.092105	1.978178	14.70535	7	69	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56386312	56386312	1611	17	C	A	A	A	273	21	BZRAP1	5	2
BZRAP1	9256	broad.mit.edu	37	17	56386537	56386537	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56386537C>A	uc002ivx.3	-	c.4096G>T	c.(4096-4098)GGG>TGG	p.G1366W	BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.G1306W|BZRAP1_uc010wnt.1_Missense_Mutation_p.G1366W	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	1366						mitochondrion	benzodiazepine receptor binding				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.054795	-7.348287	7.881557	4	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56386537	56386537	1611	17	C	A	A	A	286	22	BZRAP1	2	2
CLTC	1213	broad.mit.edu	37	17	57725719	57725719	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57725719C>A	uc002ixr.1	+	c.650C>A	c.(649-651)TCA>TAA	p.S217*	CLTC_uc002ixp.2_Nonsense_Mutation_p.S213*|CLTC_uc002ixq.1_Nonsense_Mutation_p.S213*	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	213	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)	47	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)								p.S217L(VMRCLCP-Tumor)	397				0.15534	26.049125	37.733669	16	87	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	57725719	57725719	3704	17	C	A	A	A	377	29	CLTC	5	2
GH1	2688	broad.mit.edu	37	17	61995747	61995747	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61995747G>T	uc002jdj.2	-	c.130C>A	c.(130-132)CAT>AAT	p.H44N	GH1_uc002jdi.2_Missense_Mutation_p.H44N|GH1_uc002jdk.2_Missense_Mutation_p.H44N|GH1_uc002jdl.2_Missense_Mutation_p.H44N|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Missense_Mutation_p.H44N	NM_000515	NP_000506	P01241	SOMA_HUMAN	growth hormone 1 isoform 1	44		Zinc (By similarity).			glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding				0										99				0.078212	-0.621584	31.866888	14	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61995747	61995747	6635	17	G	T	T	T	611	47	GH1	2	2
SCN4A	6329	broad.mit.edu	37	17	62020273	62020273	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62020273C>T	uc002jds.1	-	c.4201G>A	c.(4201-4203)GTG>ATG	p.V1401M		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1401	IV.|Helical; Name=S2 of repeat IV; (Potential).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.12963	10.258358	17.408873	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62020273	62020273	14402	17	C	T	T	T	247	19	SCN4A	1	1
SCN4A	6329	broad.mit.edu	37	17	62022924	62022924	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62022924C>A	uc002jds.1	-	c.3516G>T	c.(3514-3516)CTG>CTT	p.L1172L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1172	III.|Helical; Name=S5 of repeat III; (Potential).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.142857	43.423966	66.678493	27	162	KEEP	---	---	---	---	capture		Silent	SNP	62022924	62022924	14402	17	C	A	A	A	366	29	SCN4A	2	2
ABCA10	10349	broad.mit.edu	37	17	67161197	67161198	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67161197_67161198CC>AT	uc010dfa.1	-	c.3189_3190GG>AT	c.(3187-3192)ATGGTA>ATATTA	p.1063_1064MV>IL	ABCA10_uc010wqs.1_Missense_Mutation_p.55_56MV>IL|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	1063_1064	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;6.95e-12)													0.166667	10.3572	13.51656	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	67161197	67161198	30	17	CC	AT	AT	AT	234	18	ABCA10	2	2
KCNJ16	3773	broad.mit.edu	37	17	68128795	68128795	+	Silent	SNP	T	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:68128795T>G	uc002jiq.2	+	c.663T>G	c.(661-663)CTT>CTG	p.L221L	KCNJ16_uc002jin.2_Silent_p.L189L|KCNJ16_uc002jio.2_Silent_p.L189L|KCNJ16_uc002jip.2_Silent_p.L189L	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	189	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)	2	Breast(10;2.96e-09)													0.166667	32.400641	41.245868	14	70	KEEP	---	---	---	---	capture		Silent	SNP	68128795	68128795	8355	17	T	G	G	G	782	61	KCNJ16	4	4
ASGR2	433	broad.mit.edu	37	17	7004962	7004962	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7004962C>A	uc002gep.3	-	c.868G>T	c.(868-870)GAC>TAC	p.D290Y	ASGR2_uc010vtk.1_Missense_Mutation_p.D127Y|ASGR2_uc002gem.1_Missense_Mutation_p.D229Y|ASGR2_uc002gen.1_Missense_Mutation_p.D271Y|ASGR2_uc002geo.1_Missense_Mutation_p.D285Y|ASGR2_uc002ger.3_Missense_Mutation_p.D290Y|ASGR2_uc002geq.3_Missense_Mutation_p.D266Y	NM_001181	NP_001172	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2 isoform a	290	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			ovary(1)	1					Antihemophilic Factor(DB00025)									0.195652	20.449022	24.420699	9	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7004962	7004962	1059	17	C	A	A	A	377	29	ASGR2	2	2
GPR142	350383	broad.mit.edu	37	17	72368146	72368146	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72368146C>A	uc010wqy.1	+	c.796C>A	c.(796-798)CAT>AAT	p.H266N	GPR142_uc010wqx.1_Missense_Mutation_p.H178N	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	266	Cytoplasmic (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)	3														0.1	2.369786	7.105427	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72368146	72368146	6924	17	C	A	A	A	273	21	GPR142	2	2
CHRNB1	1140	broad.mit.edu	37	17	7350393	7350393	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7350393A>G	uc002ghb.2	+	c.385A>G	c.(385-387)ATT>GTT	p.I129V	CHRNB1_uc010vty.1_Missense_Mutation_p.I57V|CHRNB1_uc010vtz.1_5'UTR	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	129	Extracellular (Potential).				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			ovary(2)	2		Prostate(122;0.157)												0.098039	0.333255	8.594168	5	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7350393	7350393	3524	17	A	G	G	G	104	8	CHRNB1	4	4
GALR2	8811	broad.mit.edu	37	17	74071323	74071323	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74071323C>A	uc002jqm.1	+	c.359C>A	c.(358-360)TCC>TAC	p.S120Y	SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	120	Helical; Name=3; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0														0.233333	15.211752	17.163952	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74071323	74071323	6492	17	C	A	A	A	390	30	GALR2	2	2
ZACN	353174	broad.mit.edu	37	17	74077485	74077485	+	Splice_Site_SNP	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74077485T>A	uc002jqn.2	+	c.669_splice	c.e6+2	p.T223_splice	ZACN_uc002jqo.2_Splice_Site_SNP|ZACN_uc010dgu.2_Splice_Site_SNP|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR	NM_180990	NP_851321			zinc activated ligand-gated ion channel						response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity|zinc ion binding				0														0.058252	-7.882154	13.136112	6	97	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	74077485	74077485	18093	17	T	A	A	A	767	59	ZACN	5	3
RNF157	114804	broad.mit.edu	37	17	74157643	74157643	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74157643G>T	uc002jqz.2	-	c.1038C>A	c.(1036-1038)TCC>TCA	p.S346S	RNF157_uc002jra.2_Silent_p.S346S	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	346							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			GBM(186;507 2120 27388 27773 52994)								0.087719	1.33329	11.132207	5	52	KEEP	---	---	---	---	capture		Silent	SNP	74157643	74157643	13931	17	G	T	T	T	548	43	RNF157	2	2
QRICH2	84074	broad.mit.edu	37	17	74288492	74288492	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74288492G>T	uc002jrd.1	-	c.1818C>A	c.(1816-1818)GTC>GTA	p.V606V	QRICH2_uc010wsz.1_Silent_p.V532V|QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	606	Gln-rich.						protein binding			ovary(1)|lung(1)|central_nervous_system(1)|pancreas(1)	4														0.155556	12.203247	17.296363	7	38	KEEP	---	---	---	---	capture		Silent	SNP	74288492	74288492	13338	17	G	T	T	T	522	41	QRICH2	2	2
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577046C>A	uc002gim.2	-	c.892G>T	c.(892-894)GAG>TAG	p.E298*	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	298	Interaction with HIPK1 (By similarity).		E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.E298*(35)|p.0?(6)|p.E298K(2)|p.?(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.E298*(SKMES1-Tumor)|p.E298*(NCIH1339-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.152174	13.212265	18.525298	7	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7577046	7577046	16923	17	C	A	A	A	403	31	TP53	5	1
C1QTNF1	114897	broad.mit.edu	37	17	77043860	77043860	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:77043860A>G	uc002jwt.2	+	c.830A>G	c.(829-831)AAC>AGC	p.N277S	C1QTNF1_uc002jwp.2_Missense_Mutation_p.N179S|C1QTNF1_uc002jwq.2_Missense_Mutation_p.N97S|C1QTNF1_uc002jwr.3_Missense_Mutation_p.N189S|C1QTNF1_uc002jws.2_Missense_Mutation_p.N179S	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	179	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)											0.094118	5.441271	19.509164	8	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77043860	77043860	2029	17	A	G	G	G	26	2	C1QTNF1	4	4
PER1	5187	broad.mit.edu	37	17	8051528	8051528	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8051528G>T	uc002gkd.2	-	c.1098C>A	c.(1096-1098)CCC>CCA	p.P366P	PER1_uc010vuq.1_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.P350P	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	366	PAS 2.				circadian rhythm|entrainment of circadian clock|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(2)|ovary(1)|large_intestine(1)|kidney(1)|skin(1)	6										239				0.142857	8.319704	14.513593	7	42	KEEP	---	---	---	---	capture		Silent	SNP	8051528	8051528	12150	17	G	T	T	T	600	47	PER1	2	2
ZNF521	25925	broad.mit.edu	37	18	22669505	22669505	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22669505G>T	uc002kvk.2	-	c.3830C>A	c.(3829-3831)TCT>TAT	p.S1277Y	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.S1277Y|ZNF521_uc002kvl.2_Missense_Mutation_p.S1057Y	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1277	C2H2-type 29.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)									266				0.12069	8.185938	16.36717	7	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22669505	22669505	18559	18	G	T	T	T	429	33	ZNF521	2	2
DSC3	1825	broad.mit.edu	37	18	28586988	28586988	+	Nonsense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28586988A>T	uc002kwj.3	-	c.1773T>A	c.(1771-1773)TAT>TAA	p.Y591*	DSC3_uc002kwi.3_Nonsense_Mutation_p.Y591*	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	591	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(10;0.125)											0.093023	0.766738	7.936587	4	39	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	28586988	28586988	4951	18	A	T	T	T	206	16	DSC3	5	3
DSG4	147409	broad.mit.edu	37	18	28983423	28983423	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28983423C>A	uc002kwr.2	+	c.1462C>A	c.(1462-1464)CCT>ACT	p.P488T	DSG4_uc002kwq.2_Missense_Mutation_p.P488T	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 1 preproprotein	488	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(3)	8			OV - Ovarian serous cystadenocarcinoma(10;0.00504)											0.388889	18.518701	18.714048	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28983423	28983423	4963	18	C	A	A	A	390	30	DSG4	2	2
DSG2	1829	broad.mit.edu	37	18	29125892	29125892	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29125892A>G	uc002kwu.3	+	c.2543A>G	c.(2542-2544)AAT>AGT	p.N848S		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	848	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)	8			OV - Ovarian serous cystadenocarcinoma(10;0.0068)											0.061728	-5.691882	10.637085	5	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29125892	29125892	4961	18	A	G	G	G	52	4	DSG2	4	4
MEP1B	4225	broad.mit.edu	37	18	29790580	29790580	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29790580T>C	uc002kxj.3	+	c.1036T>C	c.(1036-1038)TAT>CAT	p.Y346H		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	346	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2														0.075472	0.483915	10.253921	4	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29790580	29790580	9865	18	T	C	C	C	637	49	MEP1B	4	4
MYOM1	8736	broad.mit.edu	37	18	3187492	3187492	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:3187492T>A	uc002klp.2	-	c.915A>T	c.(913-915)GAA>GAT	p.E305D	MYOM1_uc002klq.2_Missense_Mutation_p.E305D	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	305	Ig-like C2-type 1.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5														0.083333	-0.362377	16.692648	8	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3187492	3187492	10486	18	T	A	A	A	777	60	MYOM1	3	3
DTNA	1837	broad.mit.edu	37	18	32431892	32431892	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:32431892G>T	uc010dmn.1	+	c.1451G>T	c.(1450-1452)AGA>ATA	p.R484I	DTNA_uc010xbx.1_Missense_Mutation_p.R234I|DTNA_uc002kxv.3_Missense_Mutation_p.R427I|DTNA_uc002kxw.2_Missense_Mutation_p.R427I|DTNA_uc010dmj.2_Missense_Mutation_p.R424I|DTNA_uc002kxz.2_Missense_Mutation_p.R424I|DTNA_uc002kxy.2_Missense_Mutation_p.R424I|DTNA_uc010dml.2_Missense_Mutation_p.R424I|DTNA_uc002kyb.3_Missense_Mutation_p.R481I|DTNA_uc010dmm.2_Missense_Mutation_p.R484I|DTNA_uc010xby.1_Missense_Mutation_p.R174I|DTNA_uc010dmo.2_Missense_Mutation_p.R106I|DTNA_uc002kyd.3_Missense_Mutation_p.R106I|DTNA_uc010xbz.1_Missense_Mutation_p.R193I|DTNA_uc010xca.1_Missense_Mutation_p.R136I|DTNA_uc002kye.2_Missense_Mutation_p.R132I	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	484	Potential.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0														0.25	15.638432	17.001893	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32431892	32431892	4973	18	G	T	T	T	455	35	DTNA	2	2
DLGAP1	9229	broad.mit.edu	37	18	3534574	3534574	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:3534574T>A	uc002kmf.2	-	c.2097A>T	c.(2095-2097)GCA>GCT	p.A699A	DLGAP1_uc010wyz.1_Silent_p.A699A|DLGAP1_uc002kme.1_Silent_p.A397A|DLGAP1_uc010dkn.2_Silent_p.A407A|DLGAP1_uc010wyw.1_Silent_p.A405A|DLGAP1_uc010wyx.1_Silent_p.A421A|DLGAP1_uc010wyy.1_Silent_p.A383A|DLGAP1_uc002kmg.2_Silent_p.A397A	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	699					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)												0.457143	52.295935	52.351964	16	19	KEEP	---	---	---	---	capture		Silent	SNP	3534574	3534574	4739	18	T	A	A	A	704	55	DLGAP1	3	3
SERPINB4	6318	broad.mit.edu	37	18	61328427	61328427	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61328427G>T	uc002ljg.2	-	c.24C>A	c.(22-24)AAC>AAA	p.N8K	SERPINB3_uc002lji.2_Missense_Mutation_p.N8K|SERPINB3_uc010dqa.2_Missense_Mutation_p.N8K|SERPINB3_uc010dqb.2_Missense_Mutation_p.N8K|SERPINB3_uc010dqc.2_Missense_Mutation_p.N8K	SERPINB4		P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	8					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2										163				0.139706	34.47445	51.49008	19	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61328427	61328427	14591	18	G	T	T	T	620	48	SERPINB4	2	2
ZNF407	55628	broad.mit.edu	37	18	72345910	72345911	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:72345910_72345911GG>TT	uc002llw.2	+	c.2935_2936GG>TT	c.(2935-2937)GGA>TTA	p.G979L	ZNF407_uc010xfc.1_Missense_Mutation_p.G979L|ZNF407_uc010dqu.1_Missense_Mutation_p.G979L|ZNF407_uc002llu.2_Missense_Mutation_p.G978L	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)										0.27907	33.503706	35.377783	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	72345910	72345911	18480	18	GG	TT	TT	TT	611	47	ZNF407	2	2
TXNL4A	10907	broad.mit.edu	37	18	77737634	77737634	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77737634T>A	uc002lnp.2	-	c.221A>T	c.(220-222)GAG>GTG	p.E74V	TXNL4A_uc002lnr.2_Missense_Mutation_p.E74V|TXNL4A_uc002lnq.2_Non-coding_Transcript|TXNL4A_uc010drf.2_Non-coding_Transcript|TXNL4A_uc010drg.2_Missense_Mutation_p.E3V	NM_006701	NP_006692	P83876	TXN4A_HUMAN	thioredoxin-like 4A	74					cell division|mitosis|spliceosome assembly	nucleoplasm|spliceosomal complex	protein binding				0		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		Ovarian(160;2333 2597 11821 36245)								0.101124	2.17721	16.4309	9	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77737634	77737634	17361	18	T	A	A	A	702	54	TXNL4A	3	3
ADNP2	22850	broad.mit.edu	37	18	77896229	77896229	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:77896229G>T	uc002lnw.2	+	c.2933G>T	c.(2932-2934)AGA>ATA	p.R978I		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	978					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(3)|central_nervous_system(1)	7		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)										0.172043	24.499152	34.034999	16	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77896229	77896229	325	18	G	T	T	T	429	33	ADNP2	2	2
ABCA7	10347	broad.mit.edu	37	19	1056364	1056364	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1056364G>T	uc002lqw.3	+	c.4452G>T	c.(4450-4452)GTG>GTT	p.V1484V	ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1484	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.195122	15.676805	19.231951	8	33	KEEP	---	---	---	---	capture		Silent	SNP	1056364	1056364	38	19	G	T	T	T	600	47	ABCA7	2	2
S1PR5	53637	broad.mit.edu	37	19	10624666	10624666	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10624666G>C	uc002mot.1	-	c.1022C>G	c.(1021-1023)GCG>GGG	p.A341G	S1PR5_uc002mou.1_Missense_Mutation_p.A341G	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	endothelial differentiation, sphingolipid	341	Cytoplasmic (By similarity).					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|pancreas(1)	2														0.625	16.777228	16.887272	5	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10624666	10624666	14277	19	G	C	C	C	494	38	S1PR5	3	3
TSPAN16	26526	broad.mit.edu	37	19	11411906	11411906	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11411906C>A	uc002mqv.1	+	c.372C>A	c.(370-372)TTC>TTA	p.F124L	TSPAN16_uc002mqu.1_Non-coding_Transcript	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	transmembrane 4 superfamily member 16	124	Cytoplasmic (Potential).					integral to membrane					0														0.3	24.564522	25.636146	9	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11411906	11411906	17191	19	C	A	A	A	402	31	TSPAN16	1	1
ZNF440	126070	broad.mit.edu	37	19	11943196	11943196	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11943196G>T	uc002msp.1	+	c.1205G>T	c.(1204-1206)GGG>GTG	p.G402V		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	402	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.235294	37.717517	42.043975	16	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11943196	11943196	18506	19	G	T	T	T	559	43	ZNF440	2	2
ILVBL	10994	broad.mit.edu	37	19	15233752	15233752	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15233752A>T	uc002nam.2	-	c.555T>A	c.(553-555)ATT>ATA	p.I185I	ILVBL_uc010dzw.2_Silent_p.I78I|ILVBL_uc010dzx.1_Silent_p.I185I	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	185						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2														0.076923	-1.176881	10.735005	5	60	KEEP	---	---	---	---	capture		Silent	SNP	15233752	15233752	8016	19	A	T	T	T	60	5	ILVBL	3	3
NOTCH3	4854	broad.mit.edu	37	19	15273348	15273348	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15273348C>A	uc002nan.2	-	c.5841G>T	c.(5839-5841)GCG>GCT	p.A1947A		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1947	Cytoplasmic (Potential).|ANK 4.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			ovary(5)|lung(2)|central_nervous_system(1)	8			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)							417				0.125	4.219001	7.507287	3	21	KEEP	---	---	---	---	capture		Silent	SNP	15273348	15273348	10953	19	C	A	A	A	288	23	NOTCH3	1	1
NOTCH3	4854	broad.mit.edu	37	19	15298035	15298035	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15298035T>C	uc002nan.2	-	c.1721A>G	c.(1720-1722)TAC>TGC	p.Y574C	NOTCH3_uc002nao.1_Missense_Mutation_p.Y574C	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	574	Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			ovary(5)|lung(2)|central_nervous_system(1)	8			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)							417				0.09375	3.105466	8.408822	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15298035	15298035	10953	19	T	C	C	C	741	57	NOTCH3	4	4
CYP4F12	66002	broad.mit.edu	37	19	15807280	15807280	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15807280G>T	uc002nbl.2	+	c.1355G>T	c.(1354-1356)GGG>GTG	p.G452V		NM_023944	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F,	452					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(2)|central_nervous_system(2)	4	Acute lymphoblastic leukemia(2;0.0367)													0.105263	10.666805	31.284569	14	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15807280	15807280	4352	19	G	T	T	T	559	43	CYP4F12	2	2
USHBP1	83878	broad.mit.edu	37	19	17366264	17366264	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17366264C>T	uc002nfs.1	-	c.1622G>A	c.(1621-1623)GGT>GAT	p.G541D	USHBP1_uc002nfr.1_Missense_Mutation_p.G167D|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.G477D	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	541							PDZ domain binding			ovary(1)	1														0.0875	2.164208	15.93638	7	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17366264	17366264	17599	19	C	T	T	T	234	18	USHBP1	2	2
JAK3	3718	broad.mit.edu	37	19	17949121	17949121	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17949121T>C	uc002nhn.3	-	c.1520A>G	c.(1519-1521)CAG>CGG	p.Q507R	JAK3_uc010ebh.2_Non-coding_Transcript|JAK3_uc002nho.2_Missense_Mutation_p.Q507R|JAK3_uc010xpx.1_3'UTR	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	507					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(36)|lung(3)|ovary(3)|stomach(2)|breast(2)	46								2		364				0.14	31.287054	50.052468	21	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17949121	17949121	8243	19	T	C	C	C	715	55	JAK3	4	4
KCNN1	3780	broad.mit.edu	37	19	18085084	18085084	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18085084G>T	uc002nht.2	+	c.387G>T	c.(385-387)TGG>TGT	p.W129C	KCNN1_uc010xqa.1_Missense_Mutation_p.W129C	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	129	Helical; Name=Segment S1; (Potential).				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0														0.235294	9.790729	10.880604	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18085084	18085084	8383	19	G	T	T	T	559	43	KCNN1	2	2
PIK3R2	5296	broad.mit.edu	37	19	18273927	18273927	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18273927G>C	uc002nia.1	+	c.1260G>C	c.(1258-1260)CGG>CGC	p.R420R	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	420	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|central_nervous_system(1)|pancreas(1)	4										186				0.25	24.7952	26.815672	9	27	KEEP	---	---	---	---	capture		Silent	SNP	18273927	18273927	12343	19	G	C	C	C	535	42	PIK3R2	3	3
KIAA1683	80726	broad.mit.edu	37	19	18368671	18368671	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18368671C>A	uc010ebn.2	-	c.3423G>T	c.(3421-3423)ATG>ATT	p.M1141I	PDE4C_uc002nil.3_5'Flank|KIAA1683_uc002nin.2_Missense_Mutation_p.M954I|KIAA1683_uc010xqe.1_Missense_Mutation_p.M908I|KIAA1683_uc010xqf.1_Non-coding_Transcript	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	KIAA1683 isoform a	1141	IQ 5.|IQ 6.					mitochondrion				ovary(2)	2														0.136986	15.10005	24.411801	10	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18368671	18368671	8561	19	C	A	A	A	273	21	KIAA1683	2	2
GATAD2A	54815	broad.mit.edu	37	19	19606889	19606889	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19606889G>C	uc010xqv.1	+	c.842G>C	c.(841-843)AGC>ACC	p.S281T	GATAD2A_uc010xqt.1_Missense_Mutation_p.S262T|GATAD2A_uc010xqu.1_Intron|GATAD2A_uc010xqw.1_Missense_Mutation_p.S89T	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	262					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding				0														0.2	16.974447	20.326131	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19606889	19606889	6524	19	G	C	C	C	442	34	GATAD2A	3	3
ZNF93	81931	broad.mit.edu	37	19	20027413	20027413	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:20027413G>T	uc002non.2	+	c.175G>T	c.(175-177)GGA>TGA	p.G59*	ZNF93_uc002nom.2_Nonsense_Mutation_p.G59*	NM_031218	NP_112495	P35789	ZNF93_HUMAN	zinc finger protein 93	59	KRAB.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1														0.128205	11.90536	22.40921	10	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	20027413	20027413	18806	19	G	T	T	T	455	35	ZNF93	5	2
ZNF85	7639	broad.mit.edu	37	19	21131981	21131981	+	Nonsense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21131981A>T	uc002npg.3	+	c.661A>T	c.(661-663)AAG>TAG	p.K221*	ZNF85_uc010ecn.2_Nonsense_Mutation_p.K156*|ZNF85_uc010eco.2_Nonsense_Mutation_p.K169*|ZNF85_uc002npi.2_Nonsense_Mutation_p.K162*	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	221	C2H2-type 3.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1														0.190476	17.285417	21.039744	8	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21131981	21131981	18795	19	A	T	T	T	169	13	ZNF85	5	3
ZNF493	284443	broad.mit.edu	37	19	21607572	21607572	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21607572A>T	uc002npw.2	+	c.2111A>T	c.(2110-2112)AAG>ATG	p.K704M	ZNF493_uc002npx.2_Missense_Mutation_p.K576M|ZNF493_uc002npy.2_Missense_Mutation_p.K576M	NM_001076678	NP_001070146	Q6ZR52	ZN493_HUMAN	zinc finger protein 493 isoform 3	576	C2H2-type 20.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.129032	4.776705	8.934014	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21607572	21607572	18538	19	A	T	T	T	39	3	ZNF493	3	3
ZNF208	7757	broad.mit.edu	37	19	22155210	22155210	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22155210G>T	uc002nqp.2	-	c.2326C>A	c.(2326-2328)CTT>ATT	p.L776I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)	5		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.126761	12.593255	22.185272	9	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22155210	22155210	18357	19	G	T	T	T	455	35	ZNF208	2	2
ZNF208	7757	broad.mit.edu	37	19	22157345	22157345	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22157345T>C	uc002nqp.2	-	c.491A>G	c.(490-492)AAG>AGG	p.K164R	ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)	5		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.078652	1.672208	17.79763	7	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22157345	22157345	18357	19	T	C	C	C	728	56	ZNF208	4	4
ZNF492	57615	broad.mit.edu	37	19	22847741	22847741	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22847741G>A	uc002nqw.3	+	c.1270G>A	c.(1270-1272)GAA>AAA	p.E424K		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	424	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)												0.146667	16.488444	25.478455	11	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22847741	22847741	18537	19	G	A	A	A	585	45	ZNF492	2	2
ZNF536	9745	broad.mit.edu	37	19	30935931	30935931	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30935931C>A	uc002nsu.1	+	c.1462C>A	c.(1462-1464)CTC>ATC	p.L488I	ZNF536_uc010edd.1_Missense_Mutation_p.L488I	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.114754	7.809231	16.707619	7	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30935931	30935931	18568	19	C	A	A	A	312	24	ZNF536	2	2
TSHZ3	57616	broad.mit.edu	37	19	31769270	31769270	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31769270C>A	uc002nsy.3	-	c.1429G>T	c.(1429-1431)GAG>TAG	p.E477*		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	477					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.135021	39.594356	70.18297	32	205	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31769270	31769270	17176	19	C	A	A	A	390	30	TSHZ3	5	2
FFAR2	2867	broad.mit.edu	37	19	35941483	35941483	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:35941483G>T	uc002nzg.2	+	c.867G>T	c.(865-867)CAG>CAT	p.Q289H	FFAR2_uc010eea.2_Missense_Mutation_p.Q289H	NM_005306	NP_005297	O15552	FFAR2_HUMAN	free fatty acid receptor 2	289	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity|lipid binding			central_nervous_system(1)	1	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GBM(40;139 809 9833 23358 48736)				34				0.163265	26.723371	37.313277	16	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35941483	35941483	6065	19	G	T	T	T	451	35	FFAR2	2	2
MLL4	9757	broad.mit.edu	37	19	36212499	36212499	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36212499C>T	uc010eei.2	+	c.2250C>T	c.(2248-2250)CCC>CCT	p.P750P		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	750	Pro-rich.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.257143	23.866521	25.732643	9	26	KEEP	---	---	---	---	capture		Silent	SNP	36212499	36212499	10013	19	C	T	T	T	275	22	MLL4	2	2
MLL4	9757	broad.mit.edu	37	19	36227603	36227603	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36227603G>T	uc010eei.2	+	c.7172G>T	c.(7171-7173)AGC>ATC	p.S2391I		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	2391					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.208333	9.55201	11.455967	5	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36227603	36227603	10013	19	G	T	T	T	442	34	MLL4	2	2
NPHS1	4868	broad.mit.edu	37	19	36340177	36340177	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36340177G>T	uc002oby.2	-	c.801C>A	c.(799-801)GCC>GCA	p.A267A		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	267	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)	4	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.119048	5.343985	11.330777	5	37	KEEP	---	---	---	---	capture		Silent	SNP	36340177	36340177	10986	19	G	T	T	T	548	43	NPHS1	2	2
KIRREL2	84063	broad.mit.edu	37	19	36349667	36349667	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36349667T>A	uc002ocb.3	+	c.423T>A	c.(421-423)CCT>CCA	p.P141P	KIRREL2_uc002obz.3_Silent_p.P141P|KIRREL2_uc002oca.3_Silent_p.P91P|KIRREL2_uc002occ.3_Silent_p.P88P|KIRREL2_uc002ocd.3_Silent_p.P138P	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	141	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.177778	33.557864	42.349769	16	74	KEEP	---	---	---	---	capture		Silent	SNP	36349667	36349667	8637	19	T	A	A	A	704	55	KIRREL2	3	3
APLP1	333	broad.mit.edu	37	19	36369812	36369812	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36369812G>T	uc002ocf.2	+	c.1671G>T	c.(1669-1671)AGG>AGT	p.R557S	APLP1_uc010xsz.1_Missense_Mutation_p.R517S|APLP1_uc002oce.2_Missense_Mutation_p.R556S|APLP1_uc002ocg.2_Missense_Mutation_p.R460S|APLP1_uc010xta.1_Missense_Mutation_p.R550S	NM_001024807	NP_001019978	P51693	APLP1_HUMAN	amyloid precursor-like protein 1 isoform 1	556	Extracellular (Potential).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.173333	25.028799	32.586459	13	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36369812	36369812	789	19	G	T	T	T	555	43	APLP1	2	2
WDR62	284403	broad.mit.edu	37	19	36558728	36558728	+	Splice_Site_SNP	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36558728A>T	uc002odd.2	+	c.700_splice	c.e7-2	p.V234_splice	WDR62_uc002odc.2_Splice_Site_SNP_p.V234_splice|WDR62_uc002odb.2_Splice_Site_SNP_p.V234_splice	NM_001083961	NP_001077430			WD repeat domain 62 isoform 1						cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)											0.196429	22.899211	27.718468	11	45	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	36558728	36558728	17886	19	A	T	T	T	91	7	WDR62	5	3
ZNF568	374900	broad.mit.edu	37	19	37441368	37441368	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37441368G>T	uc002ofc.2	+	c.1313G>T	c.(1312-1314)CGA>CTA	p.R438L	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.R362L|ZNF568_uc010efe.2_Missense_Mutation_p.R362L|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	438	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.155844	22.553754	31.259102	12	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37441368	37441368	18594	19	G	T	T	T	481	37	ZNF568	1	1
ZNF585A	199704	broad.mit.edu	37	19	37643910	37643910	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37643910T>A	uc002ofo.1	-	c.891A>T	c.(889-891)CCA>CCT	p.P297P	ZNF585A_uc002ofm.1_Silent_p.P242P|ZNF585A_uc002ofn.1_Silent_p.P242P	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.211712	120.832063	137.868163	47	175	KEEP	---	---	---	---	capture		Silent	SNP	37643910	37643910	18612	19	T	A	A	A	652	51	ZNF585A	3	3
ZNF569	148266	broad.mit.edu	37	19	37904988	37904988	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37904988C>G	uc002ogj.2	-	c.644G>C	c.(643-645)TGT>TCT	p.C215S	ZNF569_uc002ogh.2_Missense_Mutation_p.C32S|ZNF569_uc002ogi.2_Missense_Mutation_p.C191S	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	191	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.16129	22.226251	28.979902	10	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37904988	37904988	18595	19	C	G	G	G	221	17	ZNF569	3	3
SIPA1L3	23094	broad.mit.edu	37	19	38689108	38689108	+	Silent	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38689108C>G	uc002ohk.2	+	c.4920C>G	c.(4918-4920)CCC>CCG	p.P1640P		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	1640					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)											0.214286	68.84762	79.446528	30	110	KEEP	---	---	---	---	capture		Silent	SNP	38689108	38689108	14826	19	C	G	G	G	275	22	SIPA1L3	3	3
RASGRP4	115727	broad.mit.edu	37	19	38910858	38910858	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38910858T>A	uc002oir.2	-	c.422A>T	c.(421-423)CAG>CTG	p.Q141L	RASGRP4_uc010efz.1_Non-coding_Transcript|RASGRP4_uc010ega.1_Non-coding_Transcript|RASGRP4_uc010xua.1_Missense_Mutation_p.Q141L|RASGRP4_uc010xub.1_Missense_Mutation_p.Q141L|RASGRP4_uc010xuc.1_Missense_Mutation_p.Q141L|RASGRP4_uc010xud.1_Missense_Mutation_p.Q141L|RASGRP4_uc010xue.1_Missense_Mutation_p.Q141L|RASGRP4_uc010egb.2_Missense_Mutation_p.Q141L	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4 isoform a	141	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			pancreas(1)|skin(1)	2	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)											0.315789	17.243555	17.816802	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38910858	38910858	13538	19	T	A	A	A	715	55	RASGRP4	3	3
RYR1	6261	broad.mit.edu	37	19	38997149	38997149	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38997149G>T	uc002oit.2	+	c.8655G>T	c.(8653-8655)ACG>ACT	p.T2885T	RYR1_uc002oiu.2_Silent_p.T2885T|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2885	6 X approximate repeats.|Cytoplasmic.|6.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.137255	9.690587	16.1913	7	44	KEEP	---	---	---	---	capture		Silent	SNP	38997149	38997149	14248	19	G	T	T	T	509	40	RYR1	1	1
RYR1	6261	broad.mit.edu	37	19	39009862	39009862	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39009862C>G	uc002oit.2	+	c.10027C>G	c.(10027-10029)CAG>GAG	p.Q3343E	RYR1_uc002oiu.2_Missense_Mutation_p.Q3343E|RYR1_uc002oiv.1_Missense_Mutation_p.Q263E|RYR1_uc010xuf.1_Missense_Mutation_p.Q263E	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3343					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.190476	56.28691	67.527204	24	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39009862	39009862	14248	19	C	G	G	G	221	17	RYR1	3	3
SPTBN4	57731	broad.mit.edu	37	19	40995992	40995992	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40995992C>A	uc002ony.2	+	c.332C>A	c.(331-333)ACG>AAG	p.T111K	SPTBN4_uc002onx.2_Missense_Mutation_p.T111K|SPTBN4_uc002onz.2_Missense_Mutation_p.T111K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	111	CH 1.|Actin-binding.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)	4			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)											0.25	10.238194	11.117185	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40995992	40995992	15635	19	C	A	A	A	247	19	SPTBN4	1	1
TMEM145	284339	broad.mit.edu	37	19	42824590	42824590	+	Splice_Site_SNP	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42824590G>C	uc002otk.1	+	c.1194_splice	c.e13+1	p.L398_splice		NM_173633	NP_775904			transmembrane protein 145							integral to membrane					0		Prostate(69;0.00682)												0.04	-9.835513	7.263185	3	72	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	42824590	42824590	16591	19	G	C	C	C	572	44	TMEM145	5	3
SHD	56961	broad.mit.edu	37	19	4290477	4290477	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4290477G>T	uc002lzw.2	+	c.870G>T	c.(868-870)GCG>GCT	p.A290A	SHD_uc010dtu.2_Silent_p.A250A	NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming	290	SH2.										0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)										0.05	-5.835167	6.96587	3	57	KEEP	---	---	---	---	capture		Silent	SNP	4290477	4290477	14767	19	G	T	T	T	483	38	SHD	1	1
PSG11	5680	broad.mit.edu	37	19	43523068	43523068	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43523068G>T	uc002ovn.1	-	c.581C>A	c.(580-582)CCT>CAT	p.P194H	PSG11_uc002ouw.2_Missense_Mutation_p.P194H|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.P194H|PSG11_uc002ovm.1_Missense_Mutation_p.P188H|PSG11_uc002ovo.1_Missense_Mutation_p.P66H|PSG11_uc002ovp.1_Missense_Mutation_p.P66H	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	188	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.161585	98.836949	134.542479	53	275	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43523068	43523068	13107	19	G	T	T	T	455	35	PSG11	2	2
PSG6	5675	broad.mit.edu	37	19	43528960	43528960	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43528960C>A	uc002ovh.1	-	c.331G>T	c.(331-333)GCA>TCA	p.A111S	PSG11_uc002ouw.2_Missense_Mutation_p.A111S|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.A111S|PSG11_uc002ovm.1_Missense_Mutation_p.A105S|PSG11_uc002ovn.1_Missense_Mutation_p.A111S|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron	PSG6		Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	104	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00899)												0.137615	48.711278	76.397579	30	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43528960	43528960	13112	19	C	A	A	A	325	25	PSG6	2	2
PSG2	5670	broad.mit.edu	37	19	43575948	43575948	+	Nonsense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43575948G>A	uc010eiq.1	-	c.868C>T	c.(868-870)CAA>TAA	p.Q290*	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Nonsense_Mutation_p.Q290*|PSG2_uc002ovq.3_Nonsense_Mutation_p.Q290*|PSG2_uc002ovs.3_Nonsense_Mutation_p.Q290*|PSG2_uc002ovt.3_Nonsense_Mutation_p.Q290*	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	290	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.171717	72.745133	92.898065	34	164	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43575948	43575948	13108	19	G	A	A	A	611	47	PSG2	5	2
PSG2	5670	broad.mit.edu	37	19	43579540	43579540	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43579540G>A	uc010eiq.1	-	c.675C>T	c.(673-675)GCC>GCT	p.A225A	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Silent_p.A225A|PSG2_uc002ovq.3_Silent_p.A225A|PSG2_uc002ovs.3_Silent_p.A225A|PSG2_uc002ovt.3_Silent_p.A225A	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	225	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.099315	18.474233	65.336369	29	263	KEEP	---	---	---	---	capture		Silent	SNP	43579540	43579540	13108	19	G	A	A	A	600	47	PSG2	2	2
IRGC	56269	broad.mit.edu	37	19	44223254	44223254	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44223254C>T	uc002oxh.2	+	c.544C>T	c.(544-546)CCG>TCG	p.P182S		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	182						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)	1		Prostate(69;0.0435)				Colon(189;350 2037 11447 13433 38914)								0.121212	3.371451	8.02895	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44223254	44223254	8141	19	C	T	T	T	338	26	IRGC	2	2
ZNF225	7768	broad.mit.edu	37	19	44636290	44636290	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44636290G>C	uc002oyj.1	+	c.1523G>C	c.(1522-1524)GGA>GCA	p.G508A	ZNF225_uc010eje.1_Missense_Mutation_p.G425A|ZNF225_uc010ejf.1_Missense_Mutation_p.G508A	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)												0.295775	65.766733	68.404083	21	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44636290	44636290	18370	19	G	C	C	C	533	41	ZNF225	3	3
ZNF227	7770	broad.mit.edu	37	19	44739160	44739160	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44739160A>C	uc002oyu.2	+	c.577A>C	c.(577-579)AAG>CAG	p.K193Q	ZNF227_uc010xwu.1_Missense_Mutation_p.K142Q|ZNF227_uc002oyv.2_Missense_Mutation_p.K193Q|ZNF227_uc010xwv.1_Missense_Mutation_p.K142Q|ZNF227_uc010xww.1_Missense_Mutation_p.K114Q|ZNF227_uc002oyw.2_Missense_Mutation_p.K165Q|ZNF227_uc010ejh.2_Missense_Mutation_p.K186Q|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)												0.184211	16.768692	20.274152	7	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44739160	44739160	18372	19	A	C	C	C	169	13	ZNF227	4	4
CEACAM20	125931	broad.mit.edu	37	19	45015707	45015707	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45015707C>T	uc010ejn.1	-	c.1599G>A	c.(1597-1599)GAG>GAA	p.E533E	CEACAM20_uc010ejo.1_Intron|CEACAM20_uc010ejp.1_Silent_p.E440E|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion	533	Cytoplasmic (Potential).					integral to membrane				large_intestine(2)	2		Prostate(69;0.0352)												0.294118	14.968006	15.613013	5	12	KEEP	---	---	---	---	capture		Silent	SNP	45015707	45015707	3324	19	C	T	T	T	311	24	CEACAM20	2	2
SEMA6B	10501	broad.mit.edu	37	19	4550174	4550174	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4550174G>T	uc010duc.1	-	c.1232C>A	c.(1231-1233)TCG>TAG	p.S411*	SEMA6B_uc010dud.2_Nonsense_Mutation_p.S411*|SEMA6B_uc010xih.1_Nonsense_Mutation_p.S411*	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	411	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)										0.25641	25.038199	27.132401	10	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	4550174	4550174	14526	19	G	T	T	T	481	37	SEMA6B	5	1
PPP1R13L	10848	broad.mit.edu	37	19	45901276	45901276	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45901276C>A	uc002pbn.2	-	c.185G>T	c.(184-186)GGA>GTA	p.G62V	PPP1R13L_uc002pbo.2_Missense_Mutation_p.G62V|PPP1R13L_uc002pbp.2_Missense_Mutation_p.G62V	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	62	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding				0		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		Pancreas(61;1447 1663 31419 50578)								0.153846	7.630727	12.097571	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45901276	45901276	12793	19	C	A	A	A	390	30	PPP1R13L	2	2
CCDC8	83987	broad.mit.edu	37	19	46916052	46916052	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46916052C>A	uc002pep.2	-	c.16G>T	c.(16-18)GAG>TAG	p.E6*		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	6						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)										0.222222	16.47815	19.038712	8	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46916052	46916052	2977	19	C	A	A	A	390	30	CCDC8	5	2
CCDC9	26093	broad.mit.edu	37	19	47763903	47763903	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47763903G>T	uc010xym.1	+	c.269G>T	c.(268-270)AGC>ATC	p.S90I		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	90	Gly-rich.										0		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)										0.086957	0.889242	8.812044	4	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47763903	47763903	2992	19	G	T	T	T	442	34	CCDC9	2	2
C5AR1	728	broad.mit.edu	37	19	47823415	47823415	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47823415G>T	uc002pgj.1	+	c.381G>T	c.(379-381)CTG>CTT	p.L127L		NM_001736	NP_001727	P21730	C5AR_HUMAN	complement component 5 receptor 1	127	Helical; Name=3; (Potential).				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			ovary(2)|central_nervous_system(1)	3		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)										0.204819	36.741499	43.457686	17	66	KEEP	---	---	---	---	capture		Silent	SNP	47823415	47823415	2379	19	G	T	T	T	600	47	C5AR1	2	2
TRPM4	54795	broad.mit.edu	37	19	49684691	49684691	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49684691A>T	uc002pmw.2	+	c.1236A>T	c.(1234-1236)GAA>GAT	p.E412D	TRPM4_uc010emu.2_Missense_Mutation_p.E412D|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.E238D|TRPM4_uc010emv.2_Missense_Mutation_p.E297D|TRPM4_uc010yal.1_Intron|TRPM4_uc002pmy.2_5'Flank	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	412	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)										0.114286	4.503295	9.612273	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49684691	49684691	17139	19	A	T	T	T	24	2	TRPM4	3	3
CPT1C	126129	broad.mit.edu	37	19	50216267	50216267	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50216267G>T	uc002ppj.2	+	c.2172G>T	c.(2170-2172)ATG>ATT	p.M724I	CPT1C_uc002ppi.2_Missense_Mutation_p.M641I|CPT1C_uc002ppk.2_Missense_Mutation_p.M713I|CPT1C_uc010eng.2_Missense_Mutation_p.M724I|CPT1C_uc010enh.2_Missense_Mutation_p.M724I|CPT1C_uc010eni.1_Missense_Mutation_p.M292I	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	724	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)										0.073892	-3.789378	34.037073	15	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50216267	50216267	3972	19	G	T	T	T	611	47	CPT1C	2	2
AP2A1	160	broad.mit.edu	37	19	50302620	50302620	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50302620G>T	uc002ppn.2	+	c.1002G>T	c.(1000-1002)CTG>CTT	p.L334L	AP2A1_uc010enj.1_Non-coding_Transcript|AP2A1_uc002ppo.2_Silent_p.L334L|AP2A1_uc002ppp.1_5'Flank	NM_014203	NP_055018	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1	334					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			ovary(2)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)										0.266667	9.191732	9.930678	4	11	KEEP	---	---	---	---	capture		Silent	SNP	50302620	50302620	749	19	G	T	T	T	600	47	AP2A1	2	2
C19orf41	126123	broad.mit.edu	37	19	50657931	50657931	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50657931C>A	uc002prp.1	-	c.549G>T	c.(547-549)CCG>CCT	p.P183P		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	183	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)										0.057971	-5.950144	8.181591	4	65	KEEP	---	---	---	---	capture		Silent	SNP	50657931	50657931	1988	19	C	A	A	A	392	31	C19orf41	1	1
MYBPC2	4606	broad.mit.edu	37	19	50958471	50958471	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50958471C>A	uc002psf.2	+	c.2121C>A	c.(2119-2121)ATC>ATA	p.I707I		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	707	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)										0.05618	-8.692181	9.732711	5	84	KEEP	---	---	---	---	capture		Silent	SNP	50958471	50958471	10407	19	C	A	A	A	382	30	MYBPC2	2	2
GPR32	2854	broad.mit.edu	37	19	51274753	51274753	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51274753A>C	uc010ycf.1	+	c.896A>C	c.(895-897)CAG>CCG	p.Q299P		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	299	Extracellular (Potential).					integral to plasma membrane	N-formyl peptide receptor activity				0		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		Esophageal Squamous(113;152 1581 5732 15840 44398)								0.097222	3.789389	15.476555	7	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51274753	51274753	6963	19	A	C	C	C	91	7	GPR32	4	4
SIGLEC9	27180	broad.mit.edu	37	19	51630361	51630361	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51630361G>C	uc010yct.1	+	c.823G>C	c.(823-825)GAT>CAT	p.D275H	SIGLEC9_uc002pvu.2_Missense_Mutation_p.D275H	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	275	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)										0.153846	23.945747	32.88558	12	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51630361	51630361	14810	19	G	C	C	C	585	45	SIGLEC9	3	3
CD33	945	broad.mit.edu	37	19	51738451	51738451	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51738451T>C	uc002pwa.2	+	c.785T>C	c.(784-786)ATT>ACT	p.I262T	CD33_uc010eos.1_Missense_Mutation_p.I262T|CD33_uc010eot.1_Missense_Mutation_p.I135T|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	262	Helical; (Potential).				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)									0.170213	16.670731	21.506342	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51738451	51738451	3133	19	T	C	C	C	676	52	CD33	4	4
SIGLEC10	89790	broad.mit.edu	37	19	51919589	51919589	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51919589G>A	uc002pwo.2	-	c.729C>T	c.(727-729)ATC>ATT	p.I243I	SIGLEC10_uc002pwp.2_Silent_p.I185I|SIGLEC10_uc002pwq.2_Silent_p.I185I|SIGLEC10_uc002pwr.2_Silent_p.I243I|SIGLEC10_uc010ycy.1_Silent_p.I243I|SIGLEC10_uc010ycz.1_Silent_p.I195I|SIGLEC10_uc010eow.2_Missense_Mutation_p.S8L|SIGLEC10_uc002pws.1_Silent_p.I169I	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	243	Extracellular (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)										0.174757	36.523763	46.77473	18	85	KEEP	---	---	---	---	capture		Silent	SNP	51919589	51919589	14801	19	G	A	A	A	577	45	SIGLEC10	2	2
SIGLEC5	8778	broad.mit.edu	37	19	52132675	52132675	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52132675G>T	uc002pxe.2	-	c.636C>A	c.(634-636)ACC>ACA	p.T212T		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	212	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(1)	2		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)										0.135593	12.060242	19.65074	8	51	KEEP	---	---	---	---	capture		Silent	SNP	52132675	52132675	14806	19	G	T	T	T	444	35	SIGLEC5	2	2
ZNF616	90317	broad.mit.edu	37	19	52618394	52618394	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52618394T>A	uc002pym.2	-	c.2023A>T	c.(2023-2025)AAC>TAC	p.N675Y	ZNF616_uc002pyn.2_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	zinc finger protein 616	675	C2H2-type 18.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)										0.072848	-8.9328	19.712406	11	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52618394	52618394	18636	19	T	A	A	A	832	64	ZNF616	3	3
ZNF578	147660	broad.mit.edu	37	19	53015127	53015127	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53015127T>C	uc002pzp.3	+	c.1493T>C	c.(1492-1494)CTT>CCT	p.L498P		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	273	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)										0.160494	26.827022	35.714137	13	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53015127	53015127	18605	19	T	C	C	C	728	56	ZNF578	4	4
ZNF611	81856	broad.mit.edu	37	19	53208789	53208789	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53208789C>T	uc002pzz.2	-	c.1519G>A	c.(1519-1521)GAG>AAG	p.E507K	ZNF611_uc010eqc.2_Missense_Mutation_p.E437K|ZNF611_uc010ydo.1_Missense_Mutation_p.E437K|ZNF611_uc010ydr.1_Missense_Mutation_p.E438K|ZNF611_uc010ydp.1_Missense_Mutation_p.E507K|ZNF611_uc010ydq.1_Missense_Mutation_p.E507K|ZNF611_uc002qaa.3_Missense_Mutation_p.E437K	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)										0.241611	89.026937	98.033775	36	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53208789	53208789	18632	19	C	T	T	T	390	30	ZNF611	2	2
ZNF320	162967	broad.mit.edu	37	19	53383932	53383932	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53383932G>T	uc002qag.2	-	c.1447C>A	c.(1447-1449)CTC>ATC	p.L483I	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.L429I|ZNF320_uc002qai.2_Missense_Mutation_p.L483I	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	483	C2H2-type 12; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)										0.181818	25.56796	31.840346	12	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53383932	53383932	18431	19	G	T	T	T	468	36	ZNF320	2	2
NLRP12	91662	broad.mit.edu	37	19	54314539	54314539	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54314539G>C	uc002qcj.3	-	c.374C>G	c.(373-375)CCC>CGC	p.P125R	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qch.3_Missense_Mutation_p.P125R|NLRP12_uc002qci.3_Missense_Mutation_p.P125R|NLRP12_uc002qck.3_Non-coding_Transcript|NLRP12_uc010eqx.2_Missense_Mutation_p.P125R	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	125					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|lung(1)	5	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)										0.12	8.112716	18.800349	9	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54314539	54314539	10877	19	G	C	C	C	559	43	NLRP12	3	3
LILRB3	11025	broad.mit.edu	37	19	54721091	54721091	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54721091G>C	uc010erh.1	-	c.1818C>G	c.(1816-1818)GCC>GCG	p.A606A	LILRB3_uc002qee.1_Silent_p.A590A|LILRB3_uc002qef.1_Silent_p.A589A|LILRB3_uc002qeh.1_Silent_p.A589A|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Silent_p.A589A|LILRA6_uc002qek.1_Silent_p.A590A|LILRB3_uc002qej.1_Non-coding_Transcript|LILRA6_uc002qel.1_Silent_p.A589A|LILRA6_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Silent_p.A590A|LILRB3_uc002qep.1_Silent_p.A590A|LILRB3_uc002qeq.1_Silent_p.A589A|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Silent_p.A590A	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	589	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			ovary(1)	1	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)										0.257143	13.267477	15.228777	9	26	KEEP	---	---	---	---	capture		Silent	SNP	54721091	54721091	9118	19	G	C	C	C	444	35	LILRB3	3	3
LILRB1	10859	broad.mit.edu	37	19	55144093	55144093	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55144093C>A	uc002qgm.2	+	c.840C>A	c.(838-840)GCC>GCA	p.A280A	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgj.2_Silent_p.A280A|LILRB1_uc002qgl.2_Silent_p.A280A|LILRB1_uc002qgk.2_Silent_p.A280A|LILRB1_uc010erq.2_Silent_p.A280A|LILRB1_uc010err.2_Non-coding_Transcript	NM_001081637	NP_001075106	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	280	Ig-like C2-type 3.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(193;0.0188)										0.047619	-10.307979	7.934968	4	80	KEEP	---	---	---	---	capture		Silent	SNP	55144093	55144093	9116	19	C	A	A	A	262	21	LILRB1	2	2
LILRB4	11006	broad.mit.edu	37	19	55175015	55175015	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55175015C>A	uc002qgr.2	+	c.183C>A	c.(181-183)CAC>CAA	p.H61Q	LILRB4_uc002qgo.1_Missense_Mutation_p.H61Q|LILRB4_uc002qgp.2_Missense_Mutation_p.H20Q|LILRB4_uc002qgq.2_Missense_Mutation_p.H20Q|LILRB4_uc010ers.1_Intron|LILRB4_uc010ert.2_Missense_Mutation_p.H61Q|LILRB4_uc010eru.2_Intron	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	20						integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)										0.206349	30.866832	35.882914	13	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55175015	55175015	9119	19	C	A	A	A	220	17	LILRB4	2	2
KIR3DL1	3811	broad.mit.edu	37	19	55330026	55330026	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55330026C>A	uc002qhk.3	+	c.327C>A	c.(325-327)CCC>CCA	p.P109P	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.P51P|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_Silent_p.P51P|KIR3DL1_uc002qhl.3_Silent_p.P109P	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	109	Extracellular (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|kidney(1)	3				GBM - Glioblastoma multiforme(193;0.0192)										0.13913	25.322469	39.799325	16	99	KEEP	---	---	---	---	capture		Silent	SNP	55330026	55330026	8632	19	C	A	A	A	262	21	KIR3DL1	2	2
PTPRH	5794	broad.mit.edu	37	19	55710186	55710186	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55710186G>T	uc002qjq.2	-	c.1515C>A	c.(1513-1515)TCC>TCA	p.S505S	PTPRH_uc010esv.2_Silent_p.S327S|PTPRH_uc002qjs.2_Silent_p.S512S	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	505	Extracellular (Potential).|Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)	3		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)										0.131579	5.745355	10.765015	5	33	KEEP	---	---	---	---	capture		Silent	SNP	55710186	55710186	13260	19	G	T	T	T	444	35	PTPRH	2	2
BRSK1	84446	broad.mit.edu	37	19	55817713	55817713	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55817713C>T	uc002qkf.2	+	c.2032C>T	c.(2032-2034)CGC>TGC	p.R678C	BRSK1_uc002qkg.2_Missense_Mutation_p.R662C|BRSK1_uc002qkh.2_Missense_Mutation_p.R357C	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	678					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|protein phosphorylation|response to UV	cell junction|cytoplasm|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)						333				0.203125	32.241576	37.476638	13	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55817713	55817713	1554	19	C	T	T	T	299	23	BRSK1	1	1
NLRP13	126204	broad.mit.edu	37	19	56436007	56436008	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56436007_56436008CC>AA	uc010ygg.1	-	c.405_406GG>TT	c.(403-408)CAGGGA>CATTGA	p.135_136QG>H*		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	135_136							ATP binding			ovary(3)|skin(2)|pancreas(1)|lung(1)	7		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)										0.140625	14.73572	22.710298	9	55	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	56436007	56436008	10878	19	CC	AA	AA	AA	286	22	NLRP13	5	2
PEG3	5178	broad.mit.edu	37	19	57325840	57325840	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57325840G>T	uc002qnu.2	-	c.3970C>A	c.(3970-3972)CCC>ACC	p.P1324T	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.P1295T|PEG3_uc002qnv.2_Missense_Mutation_p.P1324T|PEG3_uc002qnw.2_Missense_Mutation_p.P1200T|PEG3_uc002qnx.2_Missense_Mutation_p.P1198T|PEG3_uc010etr.2_Missense_Mutation_p.P1324T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1324					apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.162791	12.300689	16.946754	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57325840	57325840	12141	19	G	T	T	T	546	42	PEG3	2	2
PEG3	5178	broad.mit.edu	37	19	57327572	57327572	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57327572G>T	uc002qnu.2	-	c.2238C>A	c.(2236-2238)GAC>GAA	p.D746E	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D717E|PEG3_uc002qnv.2_Missense_Mutation_p.D746E|PEG3_uc002qnw.2_Missense_Mutation_p.D622E|PEG3_uc002qnx.2_Missense_Mutation_p.D620E|PEG3_uc010etr.2_Missense_Mutation_p.D746E	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	746					apoptosis|regulation of transcription, DNA-dependent|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|large_intestine(1)|pancreas(1)	9		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)										0.186441	77.338061	93.592429	33	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57327572	57327572	12141	19	G	T	T	T	516	40	PEG3	1	1
AURKC	6795	broad.mit.edu	37	19	57743931	57743931	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57743931G>T	uc002qoe.2	+	c.318G>T	c.(316-318)CTG>CTT	p.L106L	AURKC_uc002qoc.2_Silent_p.L87L|AURKC_uc002qod.2_Silent_p.L72L|AURKC_uc010etv.2_Silent_p.L103L	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	106	Protein kinase.				cell cycle|cytokinesis|protein phosphorylation	centrosome|nucleus	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)						92				0.216867	44.610447	50.74293	18	65	KEEP	---	---	---	---	capture		Silent	SNP	57743931	57743931	1245	19	G	T	T	T	613	48	AURKC	2	2
ZNF543	125919	broad.mit.edu	37	19	57839241	57839241	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57839241A>T	uc002qoi.1	+	c.411A>T	c.(409-411)ATA>ATT	p.I137I		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)										0.133333	8.325521	14.194734	6	39	KEEP	---	---	---	---	capture		Silent	SNP	57839241	57839241	18571	19	A	T	T	T	189	15	ZNF543	3	3
ZNF543	125919	broad.mit.edu	37	19	57839243	57839243	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57839243G>T	uc002qoi.1	+	c.413G>T	c.(412-414)GGG>GTG	p.G138V		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)										0.152174	12.095052	17.422507	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57839243	57839243	18571	19	G	T	T	T	559	43	ZNF543	2	2
ZNF8	7554	broad.mit.edu	37	19	58806148	58806148	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58806148G>T	uc002qry.1	+	c.974G>T	c.(973-975)AGT>ATT	p.S325I	ZNF8_uc002qrz.2_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	325	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)										0.150943	15.165863	21.351625	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58806148	58806148	18765	19	G	T	T	T	468	36	ZNF8	2	2
CLEC4M	10332	broad.mit.edu	37	19	7832409	7832409	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:7832409T>A	uc002mih.2	+	c.875T>A	c.(874-876)CTA>CAA	p.L292Q	CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Missense_Mutation_p.L248Q|CLEC4M_uc010dvt.2_Missense_Mutation_p.L269Q|CLEC4M_uc010dvs.2_Missense_Mutation_p.L291Q|CLEC4M_uc010xjx.1_Missense_Mutation_p.L264Q|CLEC4M_uc002mhz.2_Intron|CLEC4M_uc002mic.2_Intron|CLEC4M_uc002mia.2_Missense_Mutation_p.L179Q	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	315	Extracellular (Probable).|C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			pancreas(1)	1														0.121212	5.697404	10.319486	4	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7832409	7832409	3656	19	T	A	A	A	689	53	CLEC4M	3	3
LASS4	79603	broad.mit.edu	37	19	8321907	8321907	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8321907G>A	uc002mjg.2	+	c.687G>A	c.(685-687)CTG>CTA	p.L229L	LASS4_uc002mjh.2_Silent_p.L178L|LASS4_uc002mji.2_Silent_p.L65L|LASS4_uc010dvz.2_Silent_p.L229L	NM_024552	NP_078828	Q9HA82	LASS4_HUMAN	LAG1 homolog, ceramide synthase 4	229	Helical; (Potential).|TLC.				regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(1)	1														0.178261	71.997778	94.299248	41	189	KEEP	---	---	---	---	capture		Silent	SNP	8321907	8321907	8964	19	G	A	A	A	587	46	LASS4	2	2
MYO1F	4542	broad.mit.edu	37	19	8619559	8619559	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8619559C>G	uc002mkg.2	-	c.210G>C	c.(208-210)GAG>GAC	p.E70D	MYO1F_uc002mkh.2_Missense_Mutation_p.E70D|MYO1F_uc010xkf.1_Missense_Mutation_p.E70D	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	70	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)	2														0.25	29.003009	31.50359	11	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8619559	8619559	10468	19	C	G	G	G	415	32	MYO1F	3	3
OR7G1	125962	broad.mit.edu	37	19	9225719	9225719	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9225719A>T	uc002mks.1	-	c.721T>A	c.(721-723)TGT>AGT	p.C241S		NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G,	241	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.111111	3.872686	9.257082	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9225719	9225719	11633	19	A	T	T	T	91	7	OR7G1	3	3
ZNF846	162993	broad.mit.edu	37	19	9868262	9868262	+	Silent	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9868262T>C	uc002mmb.1	-	c.1491A>G	c.(1489-1491)ACA>ACG	p.T497T	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Silent_p.T368T	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	497	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.130435	18.580641	30.766278	12	80	KEEP	---	---	---	---	capture		Silent	SNP	9868262	9868262	18794	19	T	C	C	C	756	59	ZNF846	4	4
OLFM3	118427	broad.mit.edu	37	1	102290605	102290605	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:102290605A>T	uc001duf.2	-	c.629T>A	c.(628-630)CTT>CAT	p.L210H	OLFM3_uc001dug.2_Missense_Mutation_p.L190H|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.L115H|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	olfactomedin 3	210	Potential.					extracellular region				ovary(2)|skin(1)	3		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)										0.102564	3.309159	9.414343	4	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102290605	102290605	11259	1	A	T	T	T	39	3	OLFM3	3	3
COL11A1	1301	broad.mit.edu	37	1	103352510	103352510	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103352510C>A	uc001dum.2	-	c.4747G>T	c.(4747-4749)GAT>TAT	p.D1583Y	COL11A1_uc001duk.2_Missense_Mutation_p.D767Y|COL11A1_uc001dul.2_Missense_Mutation_p.D1571Y|COL11A1_uc001dun.2_Missense_Mutation_p.D1532Y|COL11A1_uc009weh.2_Missense_Mutation_p.D1455Y	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	1571					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.04902	-13.005943	9.041404	5	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103352510	103352510	3805	1	C	A	A	A	377	29	COL11A1	2	2
CASZ1	54897	broad.mit.edu	37	1	10702959	10702959	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10702959C>A	uc001aro.2	-	c.4119G>T	c.(4117-4119)CGG>CGT	p.R1373R		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)										0.178571	10.370221	13.0835	5	23	KEEP	---	---	---	---	capture		Silent	SNP	10702959	10702959	2804	1	C	A	A	A	379	30	CASZ1	2	2
KCNA2	3737	broad.mit.edu	37	1	111145926	111145926	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111145926G>C	uc001dzu.2	-	c.1479C>G	c.(1477-1479)ACC>ACG	p.T493T	KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Silent_p.T493T	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	493						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		Pancreas(18;568 735 10587 23710 36357)								0.152941	26.716853	36.515331	13	72	KEEP	---	---	---	---	capture		Silent	SNP	111145926	111145926	8308	1	G	C	C	C	600	47	KCNA2	3	3
IGSF3	3321	broad.mit.edu	37	1	117127668	117127668	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117127668C>A	uc001egq.1	-	c.2507G>T	c.(2506-2508)CGC>CTC	p.R836L	IGSF3_uc001egr.1_Missense_Mutation_p.R816L|IGSF3_uc001egs.1_Missense_Mutation_p.R489L	NM_001542	NP_001533	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 1	816	Ig-like C2-type 7.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)										0.095238	3.575996	10.474235	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117127668	117127668	7902	1	C	A	A	A	351	27	IGSF3	1	1
SPAG17	200162	broad.mit.edu	37	1	118574352	118574352	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:118574352A>G	uc001ehk.2	-	c.3572T>C	c.(3571-3573)CTT>CCT	p.L1191P		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1191						cilium|flagellar axoneme|microtubule				ovary(2)|large_intestine(1)	3	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)										0.25	75.600355	81.725227	27	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118574352	118574352	15482	1	A	G	G	G	39	3	SPAG17	4	4
PRAMEF4	400735	broad.mit.edu	37	1	12942103	12942103	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12942103C>A	uc001aun.2	-	c.447G>T	c.(445-447)TTG>TTT	p.L149F		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	PRAME family member 4	149										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.217143	89.057845	101.967605	38	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12942103	12942103	12877	1	C	A	A	A	376	29	PRAMEF4	2	2
ANKRD35	148741	broad.mit.edu	37	1	145562033	145562033	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145562033C>A	uc001eob.1	+	c.1721C>A	c.(1720-1722)GCC>GAC	p.A574D	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A417D	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	574										ovary(4)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					Melanoma(9;127 754 22988 51047)								0.157143	15.643209	23.453455	11	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145562033	145562033	672	1	C	A	A	A	338	26	ANKRD35	2	2
PIAS3	10401	broad.mit.edu	37	1	145578347	145578347	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145578347G>T	uc001eoc.1	+	c.310G>T	c.(310-312)GGC>TGC	p.G104C	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Missense_Mutation_p.G95C|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	104	Pro-rich.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.126214	13.664098	27.911655	13	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145578347	145578347	12301	1	G	T	T	T	611	47	PIAS3	2	2
GJA8	2703	broad.mit.edu	37	1	147380357	147380357	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:147380357A>T	uc001epu.1	+	c.275A>T	c.(274-276)TAC>TTC	p.Y92F		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	92	Helical; (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)	5	all_hematologic(923;0.0276)					Melanoma(76;1255 1795 8195 52096)								0.140625	15.258299	23.213721	9	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147380357	147380357	6673	1	A	T	T	T	182	14	GJA8	3	3
MRPS21	54460	broad.mit.edu	37	1	150280583	150280583	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150280583G>T	uc001euk.2	+	c.185G>T	c.(184-186)CGG>CTG	p.R62L	MRPS21_uc001eul.2_Missense_Mutation_p.R62L	NM_031901	NP_114107	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	62					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.189189	16.810699	20.148368	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150280583	150280583	10225	1	G	T	T	T	507	39	MRPS21	1	1
LASS2	29956	broad.mit.edu	37	1	150940140	150940140	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150940140C>G	uc001evy.2	-	c.519G>C	c.(517-519)CAG>CAC	p.Q173H	LASS2_uc001evz.2_Missense_Mutation_p.Q173H|LASS2_uc009wmh.2_Missense_Mutation_p.Q23H	NM_181746	NP_859530	Q96G23	LASS2_HUMAN	LAG1 longevity assurance 2	173	Lumenal (Potential).|TLC.				regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				0	all_lung(15;8.07e-35)|Lung NSC(24;7.93e-31)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			Ovarian(75;371 1295 4880 12077 18753)								0.137931	40.028238	65.839703	28	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150940140	150940140	8962	1	C	G	G	G	311	24	LASS2	3	3
PIP5K1A	8394	broad.mit.edu	37	1	151206944	151206944	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151206944T>A	uc001exj.2	+	c.911T>A	c.(910-912)CTC>CAC	p.L304H	PIP5K1A_uc001exi.2_Missense_Mutation_p.L291H|PIP5K1A_uc010pcu.1_Missense_Mutation_p.L292H|PIP5K1A_uc001exk.2_Missense_Mutation_p.L291H|PIP5K1A_uc010pcv.1_Missense_Mutation_p.L61H	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	304	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				0.116883	10.827348	21.938104	9	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151206944	151206944	12363	1	T	A	A	A	702	54	PIP5K1A	3	3
POGZ	23126	broad.mit.edu	37	1	151377695	151377695	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151377695G>C	uc001eyd.1	-	c.3816C>G	c.(3814-3816)GTC>GTG	p.V1272V	POGZ_uc001eye.1_Silent_p.V1219V|POGZ_uc010pdb.1_Silent_p.V1263V|POGZ_uc001eyf.1_Silent_p.V1228V|POGZ_uc010pdc.1_Silent_p.V1210V|POGZ_uc009wmv.1_Silent_p.V1177V|POGZ_uc010pdd.1_Silent_p.V763V	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1272	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)											0.087179	7.753365	41.465443	17	178	KEEP	---	---	---	---	capture		Silent	SNP	151377695	151377695	12614	1	G	C	C	C	574	45	POGZ	3	3
FLG	2312	broad.mit.edu	37	1	152278945	152278945	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152278945A>G	uc001ezu.1	-	c.8417T>C	c.(8416-8418)GTA>GCA	p.V2806A		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2806	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)											0.059172	-23.238532	45.593197	20	318	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152278945	152278945	6160	1	A	G	G	G	182	14	FLG	4	4
FLG	2312	broad.mit.edu	37	1	152280577	152280577	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152280577G>T	uc001ezu.1	-	c.6785C>A	c.(6784-6786)TCT>TAT	p.S2262Y		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2262	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)											0.113636	23.8319	56.133481	25	195	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152280577	152280577	6160	1	G	T	T	T	429	33	FLG	2	2
LCE2C	353140	broad.mit.edu	37	1	152648701	152648701	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152648701C>A	uc001fah.2	+	c.210C>A	c.(208-210)GGC>GGA	p.G70G		NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	70	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.154545	26.4523	38.966764	17	93	KEEP	---	---	---	---	capture		Silent	SNP	152648701	152648701	8990	1	C	A	A	A	353	28	LCE2C	2	2
PGLYRP4	57115	broad.mit.edu	37	1	153309769	153309769	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153309769C>A	uc001fbo.2	-	c.831G>T	c.(829-831)CTG>CTT	p.L277L	PGLYRP4_uc001fbp.2_Silent_p.L273L	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein-I-beta	277					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity			ovary(3)	3	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.103448	3.003014	7.543906	3	26	KEEP	---	---	---	---	capture		Silent	SNP	153309769	153309769	12219	1	C	A	A	A	262	21	PGLYRP4	2	2
S100A7A	338324	broad.mit.edu	37	1	153390625	153390625	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153390625C>T	uc001fbt.1	+	c.67C>T	c.(67-69)CGT>TGT	p.R23C		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7-like 1	23	EF-hand 1.					cytoplasm	calcium ion binding			skin(1)	1	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.121739	18.889393	34.904749	14	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153390625	153390625	14264	1	C	T	T	T	247	19	S100A7A	1	1
CDK11B	984	broad.mit.edu	37	1	1573207	1573207	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1573207C>A	uc001agv.1	-	c.1381G>T	c.(1381-1383)GAG>TAG	p.E461*	CDK11B_uc009vkj.2_Nonsense_Mutation_p.E118*|CDK11B_uc001ags.1_Nonsense_Mutation_p.E319*|CDK11B_uc001agt.1_Nonsense_Mutation_p.E244*|CDK11B_uc001aha.1_Nonsense_Mutation_p.E427*|CDK11B_uc001agw.1_Nonsense_Mutation_p.E416*|CDK11B_uc001agy.1_Nonsense_Mutation_p.E459*|CDK11B_uc001agx.1_Nonsense_Mutation_p.E450*|CDK11B_uc001agz.1_Nonsense_Mutation_p.E205*	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	474	Protein kinase.				apoptosis|cell proliferation|mitosis|protein phosphorylation|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			skin(1)	1										604				0.391304	91.863262	92.816793	36	56	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	1573207	1573207	3256	1	C	A	A	A	390	30	CDK11B	5	2
FCRL5	83416	broad.mit.edu	37	1	157490895	157490895	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157490895C>A	uc001fqu.2	-	c.2427G>T	c.(2425-2427)CTG>CTT	p.L809L	FCRL5_uc009wsm.2_Silent_p.L809L	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	809	Extracellular (Potential).|Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)												0.120482	11.923192	23.626576	10	73	KEEP	---	---	---	---	capture		Silent	SNP	157490895	157490895	6035	1	C	A	A	A	366	29	FCRL5	2	2
FCRL2	79368	broad.mit.edu	37	1	157716558	157716558	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157716558G>T	uc001fre.2	-	c.1495C>A	c.(1495-1497)CAA>AAA	p.Q499K	FCRL2_uc001frd.2_Missense_Mutation_p.Q246K|FCRL2_uc010phz.1_Silent_p.P438P|FCRL2_uc009wsp.2_Missense_Mutation_p.Q193K	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	499	Cytoplasmic (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)											0.155556	13.995018	19.094048	7	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157716558	157716558	6032	1	G	T	T	T	611	47	FCRL2	2	2
FCRL1	115350	broad.mit.edu	37	1	157772257	157772257	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157772257C>A	uc001frg.2	-	c.517G>T	c.(517-519)GTG>TTG	p.V173L	FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.V173L|FCRL1_uc001fri.2_Missense_Mutation_p.V173L|FCRL1_uc001frj.2_Intron	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	173	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)	3	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GBM(54;482 1003 11223 30131 35730)								0.140625	14.645047	22.612184	9	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157772257	157772257	6031	1	C	A	A	A	260	20	FCRL1	2	2
CD1B	910	broad.mit.edu	37	1	158299213	158299213	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158299213G>T	uc001frx.2	-	c.833C>A	c.(832-834)TCC>TAC	p.S278Y	CD1B_uc001frw.2_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	278	Extracellular (Potential).|Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)													0.157895	12.235906	18.610694	9	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158299213	158299213	3102	1	G	T	T	T	533	41	CD1B	2	2
CD1B	910	broad.mit.edu	37	1	158299803	158299803	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158299803C>A	uc001frx.2	-	c.446G>T	c.(445-447)TGT>TTT	p.C149F	CD1B_uc001frw.2_Missense_Mutation_p.C42F	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	149	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)													0.190476	66.216423	79.380045	28	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158299803	158299803	3102	1	C	A	A	A	221	17	CD1B	2	2
OR6Y1	391112	broad.mit.edu	37	1	158517516	158517516	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158517516C>A	uc010pil.1	-	c.380G>T	c.(379-381)CGC>CTC	p.R127L		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	127	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.111111	3.72564	10.555129	5	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158517516	158517516	11624	1	C	A	A	A	351	27	OR6Y1	1	1
OR10Z1	128368	broad.mit.edu	37	1	158577045	158577045	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158577045C>G	uc010pio.1	+	c.817C>G	c.(817-819)CTT>GTT	p.L273V		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	273	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.125523	44.1654	76.939042	30	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158577045	158577045	11329	1	C	G	G	G	364	28	OR10Z1	3	3
FCER1A	2205	broad.mit.edu	37	1	159272653	159272653	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159272653G>T	uc001ftq.2	+	c.65G>T	c.(64-66)GGC>GTC	p.G22V		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	22						integral to plasma membrane					0	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)									0.118881	18.468702	38.820456	17	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159272653	159272653	6011	1	G	T	T	T	546	42	FCER1A	2	2
NHLH1	4807	broad.mit.edu	37	1	160340859	160340859	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160340859A>G	uc001fwa.2	+	c.338A>G	c.(337-339)AAG>AGG	p.K113R		NM_005598	NP_005589	Q02575	HEN1_HUMAN	nescient helix loop helix 1	113	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity			ovary(1)	1	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.183333	25.887485	31.537305	11	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160340859	160340859	10803	1	A	G	G	G	39	3	NHLH1	4	4
FCER1G	2207	broad.mit.edu	37	1	161188691	161188691	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161188691G>A	uc001fza.1	+	c.222G>A	c.(220-222)CAG>CAA	p.Q74Q	FCER1G_uc001fyz.1_Silent_p.Q73Q	NM_004106	NP_004097	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor	73	ITAM.|Cytoplasmic (Potential).				platelet activation	integral to plasma membrane					0	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)									0.095238	5.099685	15.460053	6	57	KEEP	---	---	---	---	capture		Silent	SNP	161188691	161188691	6012	1	G	A	A	A	451	35	FCER1G	2	2
FCGR2A	2212	broad.mit.edu	37	1	161487915	161487915	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161487915G>C	uc001gan.2	+	c.931G>C	c.(931-933)GAC>CAC	p.D311H	FCGR2A_uc001gam.2_Missense_Mutation_p.D310H|FCGR2A_uc001gao.2_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	311	Cytoplasmic (Potential).					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)									0.087719	1.342638	11.133338	5	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161487915	161487915	6018	1	G	C	C	C	481	37	FCGR2A	3	3
DDR2	4921	broad.mit.edu	37	1	162745481	162745481	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:162745481C>A	uc001gcf.2	+	c.1896C>A	c.(1894-1896)CTC>CTA	p.L632L	DDR2_uc001gcg.2_Silent_p.L632L	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	632	Cytoplasmic (Potential).|Protein kinase.				cell adhesion|protein phosphorylation	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			NSCLC(161;314 2006 8283 19651 23192)				497				0.130841	19.273455	33.457989	14	93	KEEP	---	---	---	---	capture		Silent	SNP	162745481	162745481	4508	1	C	A	A	A	366	29	DDR2	2	2
XCL2	6846	broad.mit.edu	37	1	168510202	168510202	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:168510202G>A	uc001gfn.3	-	c.333C>T	c.(331-333)ACC>ACT	p.T111T		NM_003175	NP_003166	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2 precursor	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			ovary(1)	1	all_hematologic(923;0.215)													0.071429	-1.20992	6.740025	3	39	KEEP	---	---	---	---	capture		Silent	SNP	168510202	168510202	18005	1	G	A	A	A	548	43	XCL2	2	2
DPT	1805	broad.mit.edu	37	1	168670289	168670289	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:168670289G>T	uc001gfp.2	-	c.505C>A	c.(505-507)CGA>AGA	p.R169R		NM_001937	NP_001928	Q07507	DERM_HUMAN	dermatopontin precursor	169	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				ovary(1)	1	all_hematologic(923;0.208)													0.043478	-14.580083	11.060856	5	110	KEEP	---	---	---	---	capture		Silent	SNP	168670289	168670289	4923	1	G	T	T	T	506	39	DPT	1	1
SELP	6403	broad.mit.edu	37	1	169565348	169565348	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169565348C>T	uc001ggi.3	-	c.1916G>A	c.(1915-1917)GGG>GAG	p.G639E	SELP_uc001ggh.2_Missense_Mutation_p.G474E|SELP_uc009wvr.2_Missense_Mutation_p.G639E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	639	Extracellular (Potential).				defense response to Gram-negative bacterium|platelet activation|platelet degranulation|positive regulation of platelet activation|response to lipopolysaccharide	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)	2	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)									0.09375	5.819581	32.271936	15	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169565348	169565348	14505	1	C	T	T	T	286	22	SELP	2	2
SELP	6403	broad.mit.edu	37	1	169581475	169581475	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169581475G>T	uc001ggi.3	-	c.941C>A	c.(940-942)GCC>GAC	p.A314D	SELP_uc001ggh.2_Missense_Mutation_p.A149D|SELP_uc009wvr.2_Missense_Mutation_p.A314D	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	314	Extracellular (Potential).|Sushi 2.				defense response to Gram-negative bacterium|platelet activation|platelet degranulation|positive regulation of platelet activation|response to lipopolysaccharide	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)	2	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)									0.155172	14.069988	20.633768	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169581475	169581475	14505	1	G	T	T	T	546	42	SELP	2	2
SELP	6403	broad.mit.edu	37	1	169586396	169586396	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169586396C>A	uc001ggi.3	-	c.351G>T	c.(349-351)TGG>TGT	p.W117C	SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.W117C	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	117	Extracellular (Potential).|C-type lectin.				defense response to Gram-negative bacterium|platelet activation|platelet degranulation|positive regulation of platelet activation|response to lipopolysaccharide	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)	2	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)									0.089744	4.076406	30.541192	14	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169586396	169586396	14505	1	C	A	A	A	286	22	SELP	2	2
RC3H1	149041	broad.mit.edu	37	1	173947753	173947753	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173947753C>A	uc010pmt.1	-	c.975G>T	c.(973-975)CAG>CAT	p.Q325H	RC3H1_uc001gju.3_Missense_Mutation_p.Q325H|RC3H1_uc010pms.1_Missense_Mutation_p.Q325H|RC3H1_uc001gjv.2_Missense_Mutation_p.Q325H	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	325						cytoplasm	RNA binding|zinc ion binding			ovary(2)	2														0.151515	8.98798	12.797717	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173947753	173947753	13635	1	C	A	A	A	415	32	RC3H1	2	2
TNN	63923	broad.mit.edu	37	1	175049508	175049508	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175049508C>A	uc001gkl.1	+	c.994C>A	c.(994-996)CGT>AGT	p.R332S	TNN_uc010pmx.1_Missense_Mutation_p.R332S	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	332	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470				0.153846	13.867673	19.836312	8	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175049508	175049508	16864	1	C	A	A	A	351	27	TNN	1	1
ASTN1	460	broad.mit.edu	37	1	177030247	177030247	+	Silent	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177030247T>C	uc001glc.2	-	c.438A>G	c.(436-438)GAA>GAG	p.E146E	ASTN1_uc001glb.1_Silent_p.E146E|ASTN1_uc001gld.1_Silent_p.E146E|ASTN1_uc009wwx.1_Silent_p.E146E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	146					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.1875	37.474037	46.286018	18	78	KEEP	---	---	---	---	capture		Silent	SNP	177030247	177030247	1083	1	T	C	C	C	725	56	ASTN1	4	4
PADI6	353238	broad.mit.edu	37	1	17708498	17708498	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17708498A>T	uc001bak.1	+	c.590A>T	c.(589-591)CAA>CTA	p.Q197L		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	peptidylarginine deiminase type 6	189					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)									0.136364	10.150507	15.7582	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17708498	17708498	11797	1	A	T	T	T	65	5	PADI6	3	3
FAM5B	57795	broad.mit.edu	37	1	177249846	177249846	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177249846C>G	uc001glf.2	+	c.1534C>G	c.(1534-1536)CTG>GTG	p.L512V	FAM5B_uc001glg.2_Missense_Mutation_p.L407V	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	512						extracellular region				ovary(2)	2														0.121951	4.614579	10.474078	5	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177249846	177249846	5816	1	C	G	G	G	311	24	FAM5B	3	3
ABL2	27	broad.mit.edu	37	1	179077507	179077507	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179077507C>A	uc001gmj.3	-	c.2895G>T	c.(2893-2895)CAG>CAT	p.Q965H	ABL2_uc010pnf.1_Missense_Mutation_p.Q862H|ABL2_uc010png.1_Missense_Mutation_p.Q841H|ABL2_uc010pnh.1_Missense_Mutation_p.Q944H|ABL2_uc001gmg.3_Missense_Mutation_p.Q847H|ABL2_uc001gmi.3_Missense_Mutation_p.Q950H|ABL2_uc001gmh.3_Missense_Mutation_p.Q929H|ABL2_uc010pne.1_Missense_Mutation_p.Q826H	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	965	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|breast(2)|central_nervous_system(1)	9					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)				p.Q965Q(SUPM2-Tumor)	285				0.190476	24.300331	30.039627	12	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179077507	179077507	94	1	C	A	A	A	311	24	ABL2	2	2
HMCN1	83872	broad.mit.edu	37	1	186023012	186023012	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186023012G>T	uc001grq.1	+	c.6756G>T	c.(6754-6756)AGG>AGT	p.R2252S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2252	Ig-like C2-type 20.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.12	7.713014	14.797282	6	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186023012	186023012	7511	1	G	T	T	T	542	42	HMCN1	2	2
FAM5C	339479	broad.mit.edu	37	1	190234075	190234075	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:190234075G>C	uc001gse.1	-	c.538C>G	c.(538-540)CTA>GTA	p.L180V	FAM5C_uc010pot.1_Missense_Mutation_p.L78V	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	180						extracellular region				lung(2)|ovary(1)|kidney(1)	4	Prostate(682;0.198)													0.132075	11.789772	18.758239	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190234075	190234075	5817	1	G	C	C	C	438	34	FAM5C	3	3
TAS1R2	80834	broad.mit.edu	37	1	19180801	19180801	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19180801A>T	uc001bba.1	-	c.1163T>A	c.(1162-1164)GTG>GAG	p.V388E		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	388	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	integral to membrane|plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)									0.115385	3.509254	7.294905	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19180801	19180801	16085	1	A	T	T	T	78	6	TAS1R2	3	3
KCNT2	343450	broad.mit.edu	37	1	196395110	196395110	+	Nonsense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196395110A>T	uc001gtd.1	-	c.993T>A	c.(991-993)TAT>TAA	p.Y331*	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Nonsense_Mutation_p.Y331*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.Y331*|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Nonsense_Mutation_p.Y331*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.Y306*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	331	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|catalytic activity|voltage-gated potassium channel activity			ovary(4)|breast(1)	5														0.102564	3.070682	9.210391	4	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	196395110	196395110	8397	1	A	T	T	T	102	8	KCNT2	5	3
ASPM	259266	broad.mit.edu	37	1	197073483	197073483	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197073483C>G	uc001gtu.2	-	c.4898G>C	c.(4897-4899)CGC>CCC	p.R1633P	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1633	IQ 4.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6														0.120482	14.644276	26.32219	10	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197073483	197073483	1075	1	C	G	G	G	351	27	ASPM	3	3
PTPRC	5788	broad.mit.edu	37	1	198682150	198682150	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:198682150C>A	uc001gur.1	+	c.1234C>A	c.(1234-1236)CCC>ACC	p.P412T	PTPRC_uc001gus.1_Missense_Mutation_p.P364T|PTPRC_uc001gut.1_Missense_Mutation_p.P251T|PTPRC_uc009wzf.1_Missense_Mutation_p.P300T|PTPRC_uc010ppg.1_Missense_Mutation_p.P348T	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	412	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(2)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	11										815				0.088889	-1.676149	13.746389	8	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198682150	198682150	13254	1	C	A	A	A	390	30	PTPRC	2	2
TMCO4	255104	broad.mit.edu	37	1	20009760	20009760	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20009760C>A	uc001bcn.2	-	c.1678G>T	c.(1678-1680)GGG>TGG	p.G560W	TMCO4_uc001bcm.2_Missense_Mutation_p.G391W|TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	560						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)										0.192308	31.488596	38.379565	15	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20009760	20009760	16528	1	C	A	A	A	273	21	TMCO4	2	2
SHISA4	149345	broad.mit.edu	37	1	201858597	201858597	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201858597G>T	uc001gxa.2	+	c.98G>T	c.(97-99)TGG>TTG	p.W33L		NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN	shisa homolog 4 precursor	33	Extracellular (Potential).					integral to membrane					0														0.080645	-2.583255	8.737805	5	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201858597	201858597	14774	1	G	T	T	T	611	47	SHISA4	2	2
ADORA1	134	broad.mit.edu	37	1	203134389	203134389	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203134389G>T	uc010pqh.1	+	c.441G>T	c.(439-441)CGG>CGT	p.R147R	FMOD_uc010pqi.1_Intron|ADORA1_uc001gze.1_Silent_p.R114R|ADORA1_uc001gzf.1_Silent_p.R114R|ADORA1_uc010pqg.1_Missense_Mutation_p.R46S|ADORA1_uc009xak.1_Missense_Mutation_p.V40L	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	adenosine A1 receptor	114	Cytoplasmic (Potential).				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				large_intestine(1)	1					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)									0.233333	15.807285	17.762708	7	23	KEEP	---	---	---	---	capture		Silent	SNP	203134389	203134389	327	1	G	T	T	T	561	44	ADORA1	2	2
MYBPH	4608	broad.mit.edu	37	1	203144711	203144711	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203144711G>T	uc001gzh.1	-	c.173C>A	c.(172-174)TCC>TAC	p.S58Y	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	58					cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		NSCLC(32;174 1025 14462 23899 42933)								0.107383	12.626253	35.383933	16	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203144711	203144711	10409	1	G	T	T	T	533	41	MYBPH	2	2
PRELP	5549	broad.mit.edu	37	1	203452913	203452913	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203452913G>T	uc001gzs.2	+	c.601G>T	c.(601-603)GAT>TAT	p.D201Y	PRELP_uc001gzt.2_Missense_Mutation_p.D201Y	NM_002725	NP_002716	P51888	PRELP_HUMAN	proline arginine-rich end leucine-rich repeat	201	Poly-Leu.|LRR 5.				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)											0.141593	21.794976	35.746996	16	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203452913	203452913	12916	1	G	T	T	T	533	41	PRELP	2	2
KLHDC8A	55220	broad.mit.edu	37	1	205308824	205308824	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205308824G>T	uc001hcf.1	-	c.489C>A	c.(487-489)ACC>ACA	p.T163T	KLHDC8A_uc010prg.1_Silent_p.T50T|KLHDC8A_uc001hcg.1_Silent_p.T163T	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	163	Kelch 4.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)											0.088889	0.670678	8.352357	4	41	KEEP	---	---	---	---	capture		Silent	SNP	205308824	205308824	8674	1	G	T	T	T	548	43	KLHDC8A	2	2
CDK18	5129	broad.mit.edu	37	1	205492412	205492412	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:205492412C>G	uc001hcr.2	+	c.117C>G	c.(115-117)AAC>AAG	p.N39K	CDK18_uc009xbk.1_Intron|CDK18_uc009xbl.1_Non-coding_Transcript|CDK18_uc010pri.1_5'UTR|CDK18_uc001hcp.2_Missense_Mutation_p.N39K|CDK18_uc001hcq.2_Missense_Mutation_p.N39K|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	PCTAIRE protein kinase 3 isoform a	37					protein phosphorylation		ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity				0						Pancreas(180;489 2072 28461 40831 44265)				699				0.066667	-0.606422	8.145986	3	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	205492412	205492412	3263	1	C	G	G	G	233	18	CDK18	3	3
CENPF	1063	broad.mit.edu	37	1	214815375	214815375	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214815375G>T	uc001hkm.2	+	c.3694G>T	c.(3694-3696)GAG>TAG	p.E1232*		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	1308	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.15	9.221802	13.922252	6	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	214815375	214815375	3364	1	G	T	T	T	533	41	CENPF	5	2
USH2A	7399	broad.mit.edu	37	1	215847618	215847618	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215847618A>T	uc001hku.1	-	c.13635T>A	c.(13633-13635)CCT>CCA	p.P4545P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4545	Fibronectin type-III 31.|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)										0.12963	18.124569	32.52105	14	94	KEEP	---	---	---	---	capture		Silent	SNP	215847618	215847618	17598	1	A	T	T	T	132	11	USH2A	3	3
USH2A	7399	broad.mit.edu	37	1	216420508	216420508	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216420508C>G	uc001hku.1	-	c.2228G>C	c.(2227-2229)GGA>GCA	p.G743A	USH2A_uc001hkv.2_Missense_Mutation_p.G743A	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	743	Laminin EGF-like 4.|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)										0.123596	18.571417	30.895224	11	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216420508	216420508	17598	1	C	G	G	G	390	30	USH2A	3	3
EPRS	2058	broad.mit.edu	37	1	220195837	220195837	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220195837A>G	uc001hly.1	-	c.967T>C	c.(967-969)TGG>CGG	p.W323R	EPRS_uc010puf.1_Missense_Mutation_p.W74R|EPRS_uc001hlz.1_Missense_Mutation_p.W323R|EPRS_uc009xdt.1_Missense_Mutation_p.W124R	NM_004446	NP_004437	P07814	SYEP_HUMAN	glutamyl-prolyl tRNA synthetase	323	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)									0.086538	7.122342	25.099598	9	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220195837	220195837	5384	1	A	G	G	G	78	6	EPRS	4	4
HLX	3142	broad.mit.edu	37	1	221057723	221057723	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:221057723G>T	uc001hmv.3	+	c.1144G>T	c.(1144-1146)GAG>TAG	p.E382*		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	382	Ser-rich.				cell differentiation|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)										0.222222	14.056379	15.958272	6	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	221057723	221057723	7507	1	G	T	T	T	481	37	HLX	5	1
CABC1	56997	broad.mit.edu	37	1	227152708	227152708	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:227152708A>T	uc001hqm.1	+	c.185A>T	c.(184-186)GAT>GTT	p.D62V	CABC1_uc010pvp.1_Missense_Mutation_p.D25V|CABC1_uc001hqn.1_Missense_Mutation_p.D62V|CABC1_uc009xeq.1_Missense_Mutation_p.D10V|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	62					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)												0.172414	9.258238	12.197914	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	227152708	227152708	2643	1	A	T	T	T	156	12	CABC1	3	3
TAF5L	27097	broad.mit.edu	37	1	229730202	229730202	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229730202C>T	uc001htq.2	-	c.1612G>A	c.(1612-1614)GAC>AAC	p.D538N		NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	538	WD 6.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulator activity			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)												0.181818	11.14001	14.272403	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	229730202	229730202	16050	1	C	T	T	T	390	30	TAF5L	2	2
PGBD5	79605	broad.mit.edu	37	1	230492710	230492710	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:230492710T>C	uc001htv.2	-	c.779A>G	c.(778-780)TAC>TGC	p.Y260C	PGBD5_uc010pwb.1_Missense_Mutation_p.Y161C	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	161						integral to membrane				ovary(2)|central_nervous_system(1)	3	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)										0.224138	36.681038	40.711398	13	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230492710	230492710	12207	1	T	C	C	C	741	57	PGBD5	4	4
LYST	1130	broad.mit.edu	37	1	235969785	235969785	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235969785T>C	uc001hxj.2	-	c.2651A>G	c.(2650-2652)AAG>AGG	p.K884R	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.K884R	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	884					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)											0.191489	44.09276	52.453328	18	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235969785	235969785	9505	1	T	C	C	C	728	56	LYST	4	4
NID1	4811	broad.mit.edu	37	1	236180456	236180456	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236180456G>T	uc001hxo.2	-	c.2246C>A	c.(2245-2247)ACG>AAG	p.T749K	NID1_uc009xgd.2_Intron	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	749	EGF-like 3; calcium-binding (Potential).				bioluminescence|cell-matrix adhesion|protein-chromophore linkage	basement membrane|membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)									0.153846	28.432388	38.823113	14	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236180456	236180456	10815	1	G	T	T	T	520	40	NID1	1	1
ACTN2	88	broad.mit.edu	37	1	236924413	236924413	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236924413G>T	uc001hyf.2	+	c.2466G>T	c.(2464-2466)ACG>ACT	p.T822T	ACTN2_uc001hyg.2_Silent_p.T614T|ACTN2_uc009xgi.1_Silent_p.T822T|ACTN2_uc010pxu.1_Silent_p.T511T|ACTN2_uc001hyh.2_Silent_p.T510T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	822	EF-hand 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.163934	19.625994	26.159228	10	51	KEEP	---	---	---	---	capture		Silent	SNP	236924413	236924413	206	1	G	T	T	T	496	39	ACTN2	1	1
ACTN2	88	broad.mit.edu	37	1	236924444	236924444	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236924444G>T	uc001hyf.2	+	c.2497G>T	c.(2497-2499)GCC>TCC	p.A833S	ACTN2_uc001hyg.2_Missense_Mutation_p.A625S|ACTN2_uc009xgi.1_Missense_Mutation_p.A833S|ACTN2_uc010pxu.1_Missense_Mutation_p.A522S|ACTN2_uc001hyh.2_Missense_Mutation_p.A521S	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	833					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)	4	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)											0.137931	13.677699	21.016426	8	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236924444	236924444	206	1	G	T	T	T	494	38	ACTN2	1	1
RYR2	6262	broad.mit.edu	37	1	237659966	237659966	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237659966A>G	uc001hyl.1	+	c.2117A>G	c.(2116-2118)TAC>TGC	p.Y706C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	706	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.089552	4.9262	16.294824	6	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237659966	237659966	14249	1	A	G	G	G	182	14	RYR2	4	4
RYR2	6262	broad.mit.edu	37	1	237711850	237711850	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237711850G>T	uc001hyl.1	+	c.3026G>T	c.(3025-3027)CGG>CTG	p.R1009L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1009	Cytoplasmic (By similarity).|2.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.153846	6.983595	9.962275	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237711850	237711850	14249	1	G	T	T	T	507	39	RYR2	1	1
RYR2	6262	broad.mit.edu	37	1	237730037	237730038	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237730037_237730038GG>TT	uc001hyl.1	+	c.3385_3386GG>TT	c.(3385-3387)GGC>TTC	p.G1129F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1129	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)											0.162602	39.015971	52.337519	20	103	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	237730037	237730038	14249	1	GG	TT	TT	TT	611	47	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237777524	237777524	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237777524G>C	uc001hyl.1	+	c.5096G>C	c.(5095-5097)CGT>CCT	p.R1699P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1699	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|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)											0.09375	3.009565	8.309201	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237777524	237777524	14249	1	G	C	C	C	520	40	RYR2	3	3
RYR2	6262	broad.mit.edu	37	1	237811774	237811774	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237811774C>T	uc001hyl.1	+	c.7373C>T	c.(7372-7374)GCG>GTG	p.A2458V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2458	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|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)											0.214286	5.820446	6.87419	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237811774	237811774	14249	1	C	T	T	T	351	27	RYR2	1	1
CHRM3	1131	broad.mit.edu	37	1	240071400	240071400	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240071400C>A	uc001hyp.2	+	c.649C>A	c.(649-651)CCT>ACT	p.P217T		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	217	Extracellular (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)									0.153846	32.061455	48.486634	22	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240071400	240071400	3512	1	C	A	A	A	338	26	CHRM3	2	2
RGS7	6000	broad.mit.edu	37	1	240975308	240975309	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240975308_240975309CC>AA	uc001hyv.2	-	c.991_992GG>TT	c.(991-993)GGT>TTT	p.G331F	RGS7_uc010pyh.1_Missense_Mutation_p.G305F|RGS7_uc010pyj.1_Missense_Mutation_p.G247F|RGS7_uc001hyu.2_Missense_Mutation_p.G331F|RGS7_uc009xgn.1_Missense_Mutation_p.G278F|RGS7_uc001hyw.2_Missense_Mutation_p.G331F|RGS7_uc001hyt.2_Missense_Mutation_p.G163F	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	331					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|kidney(1)	5		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)											0.093023	4.253985	18.566621	8	78	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	240975308	240975309	13784	1	CC	AA	AA	AA	234	18	RGS7	2	2
KMO	8564	broad.mit.edu	37	1	241725627	241725627	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241725627G>T	uc009xgp.2	+	c.610G>T	c.(610-612)GGA>TGA	p.G204*	KMO_uc001hyy.2_Nonsense_Mutation_p.G204*|KMO_uc009xgo.1_Nonsense_Mutation_p.G204*	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	204					oxidation-reduction process|pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)											0.118056	25.120497	45.719048	17	127	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	241725627	241725627	8738	1	G	T	T	T	507	39	KMO	5	1
PLD5	200150	broad.mit.edu	37	1	242253272	242253272	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:242253272C>A	uc001hzo.1	-	c.1219G>T	c.(1219-1221)GCC>TCC	p.A407S	PLD5_uc001hzl.3_Missense_Mutation_p.A437S|PLD5_uc001hzm.3_Missense_Mutation_p.A289S|PLD5_uc001hzn.1_Missense_Mutation_p.A499S	NM_152666	NP_689879	Q8N7P1	PLD5_HUMAN	phospholipase D5	499						integral to membrane	catalytic activity			ovary(5)	5	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)											0.172222	58.964911	77.20512	31	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242253272	242253272	12475	1	C	A	A	A	325	25	PLD5	2	2
VN1R5	317705	broad.mit.edu	37	1	247419455	247419455	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247419455C>A	uc010pyu.1	+	c.82C>A	c.(82-84)CTT>ATT	p.L28I		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	vomeronasal 1 receptor 5	28	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			GBM(98;63 1399 4825 21305 33017)								0.123288	9.934358	20.065671	9	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247419455	247419455	17748	1	C	A	A	A	312	24	VN1R5	2	2
NLRP3	114548	broad.mit.edu	37	1	247588721	247588721	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247588721C>A	uc001icr.2	+	c.1976C>A	c.(1975-1977)ACC>AAC	p.T659N	NLRP3_uc001ics.2_Missense_Mutation_p.T659N|NLRP3_uc001icu.2_Missense_Mutation_p.T659N|NLRP3_uc001icw.2_Missense_Mutation_p.T659N|NLRP3_uc001icv.2_Missense_Mutation_p.T659N|NLRP3_uc010pyw.1_Missense_Mutation_p.T657N|NLRP3_uc001ict.1_Missense_Mutation_p.T657N	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	659					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				0.162791	10.667626	15.375399	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247588721	247588721	10881	1	C	A	A	A	234	18	NLRP3	2	2
NLRP3	114548	broad.mit.edu	37	1	247608039	247608039	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247608039T>G	uc001icr.2	+	c.2927T>G	c.(2926-2928)CTG>CGG	p.L976R	NLRP3_uc001ics.2_Missense_Mutation_p.L919R|NLRP3_uc001icu.2_Missense_Mutation_p.L976R|NLRP3_uc001icw.2_Missense_Mutation_p.L919R|NLRP3_uc001icv.2_Missense_Mutation_p.L862R|NLRP3_uc010pyw.1_Missense_Mutation_p.L954R	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	976	LRR 9.				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				0.087719	2.743642	12.531436	5	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247608039	247608039	10881	1	T	G	G	G	715	55	NLRP3	4	4
OR2C3	81472	broad.mit.edu	37	1	247694964	247694964	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247694964G>T	uc009xgy.2	-	c.850C>A	c.(850-852)CCT>ACT	p.P284T	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,	284	Helical; Name=7; (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)											0.108696	4.869924	11.82385	5	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247694964	247694964	11399	1	G	T	T	T	533	41	OR2C3	2	2
OR2G3	81469	broad.mit.edu	37	1	247768905	247768905	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247768905G>T	uc010pyz.1	+	c.18G>T	c.(16-18)GAG>GAT	p.E6D		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	6	Extracellular (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)											0.142857	13.069476	19.946658	8	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247768905	247768905	11405	1	G	T	T	T	425	33	OR2G3	2	2
OR2W3	343171	broad.mit.edu	37	1	248059679	248059679	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059679C>A	uc001idp.1	+	c.791C>A	c.(790-792)GCC>GAC	p.A264D	OR2W3_uc010pzb.1_Missense_Mutation_p.A264D	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	264	Extracellular (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)											0.09589	3.175695	15.145471	7	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248059679	248059679	11439	1	C	A	A	A	338	26	OR2W3	2	2
OR2AK2	391191	broad.mit.edu	37	1	248129102	248129102	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248129102T>C	uc010pzd.1	+	c.469T>C	c.(469-471)TGC>CGC	p.C157R	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			Melanoma(45;390 1181 23848 28461 41504)								0.121387	21.711443	45.969113	21	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248129102	248129102	11392	1	T	C	C	C	715	55	OR2AK2	4	4
OR2M5	127059	broad.mit.edu	37	1	248308455	248308455	+	Silent	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248308455A>G	uc010pze.1	+	c.6A>G	c.(4-6)GCA>GCG	p.A2A		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)											0.107692	7.755437	27.623035	14	116	KEEP	---	---	---	---	capture		Silent	SNP	248308455	248308455	11419	1	A	G	G	G	93	8	OR2M5	4	4
OR2M2	391194	broad.mit.edu	37	1	248344004	248344004	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248344004G>T	uc010pzf.1	+	c.717G>T	c.(715-717)ACG>ACT	p.T239T		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.217822	95.263856	110.144139	44	158	KEEP	---	---	---	---	capture		Silent	SNP	248344004	248344004	11416	1	G	T	T	T	470	37	OR2M2	1	1
OR2T12	127064	broad.mit.edu	37	1	248458220	248458220	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248458220C>T	uc010pzj.1	-	c.661G>A	c.(661-663)GCT>ACT	p.A221T		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)											0.136364	7.619154	13.266772	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248458220	248458220	11425	1	C	T	T	T	351	27	OR2T12	1	1
OR2T3	343173	broad.mit.edu	37	1	248637465	248637465	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248637465A>T	uc001iel.1	+	c.814A>T	c.(814-816)ACA>TCA	p.T272S		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	272	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)											0.056604	-23.516605	20.300714	12	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248637465	248637465	11429	1	A	T	T	T	78	6	OR2T3	3	3
OR2T10	127069	broad.mit.edu	37	1	248757048	248757048	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248757048G>T	uc010pzn.1	-	c.22C>A	c.(22-24)CTG>ATG	p.L8M		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	8	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)											0.178571	9.656868	12.381058	5	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248757048	248757048	11423	1	G	T	T	T	451	35	OR2T10	2	2
SRRM1	10250	broad.mit.edu	37	1	24977944	24977944	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24977944T>A	uc010oel.1	+	c.566T>A	c.(565-567)GTC>GAC	p.V189D	SRRM1_uc001bjm.2_Missense_Mutation_p.V189D|SRRM1_uc009vrh.1_Missense_Mutation_p.V150D|SRRM1_uc009vri.1_Missense_Mutation_p.V106D|SRRM1_uc010oem.1_Intron	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	189	Arg-rich.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		Ovarian(68;897 1494 3282 17478)								0.148148	6.987513	10.19182	4	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24977944	24977944	15682	1	T	A	A	A	754	58	SRRM1	3	3
TMEM57	55219	broad.mit.edu	37	1	25824847	25824847	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:25824847G>A	uc001bkk.2	+	c.1885G>A	c.(1885-1887)GCC>ACC	p.A629T	TMEM57_uc009vru.2_Missense_Mutation_p.A402T|TMEM57_uc009vrv.2_Missense_Mutation_p.A271T	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	629						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)										0.065574	-4.038395	7.904406	4	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25824847	25824847	16723	1	G	A	A	A	494	38	TMEM57	1	1
FNDC5	252995	broad.mit.edu	37	1	33333801	33333801	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33333801G>T	uc001bwg.2	-	c.174C>A	c.(172-174)TCC>TCA	p.S58S	FNDC5_uc001bwf.1_Silent_p.S58S	NM_153756	NP_715637	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	117	Extracellular (Potential).					integral to membrane|peroxisomal membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)												0.094828	5.932957	25.064357	11	105	KEEP	---	---	---	---	capture		Silent	SNP	33333801	33333801	6214	1	G	T	T	T	600	47	FNDC5	2	2
C1orf94	84970	broad.mit.edu	37	1	34663443	34663443	+	Missense_Mutation	SNP	A	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34663443A>C	uc001bxt.2	+	c.938A>C	c.(937-939)CAG>CCG	p.Q313P	C1orf94_uc001bxs.3_Missense_Mutation_p.Q123P	NM_001134734	NP_001128206	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform a	123							protein binding				0		Myeloproliferative disorder(586;0.0393)												0.081633	-0.615838	8.104217	4	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34663443	34663443	2147	1	A	C	C	C	91	7	C1orf94	4	4
TRAPPC3	27095	broad.mit.edu	37	1	36603508	36603508	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36603508G>A	uc001bzx.2	-	c.312C>T	c.(310-312)TCC>TCT	p.S104S	TRAPPC3_uc001bzy.2_Silent_p.S58S	NM_014408	NP_055223	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	104						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0393)												0.307692	57.175763	59.318684	20	45	KEEP	---	---	---	---	capture		Silent	SNP	36603508	36603508	17004	1	G	A	A	A	548	43	TRAPPC3	2	2
CCDC27	148870	broad.mit.edu	37	1	3669132	3669132	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:3669132C>A	uc001akv.2	+	c.87C>A	c.(85-87)TCC>TCA	p.S29S		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	29											0	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)										0.206349	30.050548	35.078644	13	50	KEEP	---	---	---	---	capture		Silent	SNP	3669132	3669132	2923	1	C	A	A	A	262	21	CCDC27	2	2
OSCP1	127700	broad.mit.edu	37	1	36884607	36884607	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36884607G>T	uc001cap.2	-	c.1038C>A	c.(1036-1038)AAC>AAA	p.N346K	OSCP1_uc001caq.2_Missense_Mutation_p.N336K	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	346					transport	basal plasma membrane				ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.144737	40.169373	58.612863	22	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36884607	36884607	11697	1	G	T	T	T	620	48	OSCP1	2	2
MACF1	23499	broad.mit.edu	37	1	39800883	39800883	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39800883G>C	uc010oiu.1	+	c.3943G>C	c.(3943-3945)GGT>CGT	p.G1315R	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1501	Spectrin 7.|Potential.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.264151	37.160584	39.80403	14	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39800883	39800883	9521	1	G	C	C	C	455	35	MACF1	3	3
MACF1	23499	broad.mit.edu	37	1	39853090	39853090	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:39853090C>G	uc010oiu.1	+	c.9896C>G	c.(9895-9897)TCT>TGT	p.S3299C	MACF1_uc010ois.1_Missense_Mutation_p.S2797C|MACF1_uc001cda.1_Missense_Mutation_p.S2684C|MACF1_uc001cdc.1_Missense_Mutation_p.S1863C	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2797	Spectrin 16.|Potential.				cell cycle arrest	cytoplasm|cytoskeleton	actin filament binding|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)	14	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)											0.062893	-11.121415	20.487908	10	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39853090	39853090	9521	1	C	G	G	G	416	32	MACF1	3	3
HIVEP3	59269	broad.mit.edu	37	1	42046123	42046123	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:42046123C>A	uc001cgz.3	-	c.4346G>T	c.(4345-4347)AGA>ATA	p.R1449I	HIVEP3_uc001cha.3_Missense_Mutation_p.R1449I|HIVEP3_uc001cgy.2_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1449	Potential.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription activator activity|zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)												0.330189	93.192331	95.899742	35	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42046123	42046123	7479	1	C	A	A	A	416	32	HIVEP3	2	2
SCP2	6342	broad.mit.edu	37	1	53480639	53480639	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:53480639G>T	uc001cur.1	+	c.1159G>T	c.(1159-1161)GCT>TCT	p.A387S	SCP2_uc001cus.1_Non-coding_Transcript|SCP2_uc010ono.1_Missense_Mutation_p.A306S|SCP2_uc010onp.1_Missense_Mutation_p.A363S|SCP2_uc009vzi.1_Missense_Mutation_p.A343S|SCP2_uc010onq.1_5'UTR|SCP2_uc001cut.1_5'UTR|SCP2_uc001cuu.1_5'UTR	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein	387					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1														0.212766	22.038384	25.61176	10	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53480639	53480639	14416	1	G	T	T	T	546	42	SCP2	2	2
LRP8	7804	broad.mit.edu	37	1	53755277	53755277	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:53755277T>A	uc001cvi.1	-	c.329A>T	c.(328-330)GAG>GTG	p.E110V	LRP8_uc001cvh.1_5'UTR|LRP8_uc001cvk.1_Missense_Mutation_p.E110V|LRP8_uc001cvj.1_Missense_Mutation_p.E110V|LRP8_uc001cvl.1_Missense_Mutation_p.E110V	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	110	LDL-receptor class A 2.|Extracellular (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola|integral to membrane	apolipoprotein E binding|calcium ion binding|very-low-density lipoprotein particle receptor activity				0														0.25	9.792523	10.701526	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53755277	53755277	9336	1	T	A	A	A	702	54	LRP8	3	3
C1orf175	374977	broad.mit.edu	37	1	55134563	55134563	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55134563C>T	uc010ooe.1	+	c.1342C>T	c.(1342-1344)CTG>TTG	p.L448L	C1orf175_uc001cxq.2_Non-coding_Transcript|C1orf175_uc010ooc.1_Silent_p.L16L|C1orf175_uc001cxs.2_Non-coding_Transcript|C1orf175_uc010ood.1_5'UTR|C1orf175_uc010oof.1_Non-coding_Transcript|C1orf175_uc001cxr.1_Non-coding_Transcript|C1orf175_uc010oog.1_Silent_p.L448L|C1orf175_uc010ooh.1_Non-coding_Transcript|C1orf175_uc009vzq.1_Non-coding_Transcript|C1orf175_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	448						integral to membrane	binding				0														0.189655	24.711557	29.920815	11	47	KEEP	---	---	---	---	capture		Silent	SNP	55134563	55134563	2083	1	C	T	T	T	415	32	C1orf175	2	2
C1orf175	374977	broad.mit.edu	37	1	55166854	55166854	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55166854G>T	uc010ooe.1	+	c.3144G>T	c.(3142-3144)AAG>AAT	p.K1048N	C1orf175_uc001cxq.2_Non-coding_Transcript|C1orf175_uc001cxs.2_Non-coding_Transcript|C1orf175_uc010ood.1_Missense_Mutation_p.K566N|C1orf175_uc010oof.1_Non-coding_Transcript|C1orf175_uc001cxr.1_Non-coding_Transcript|C1orf175_uc009vzq.1_Non-coding_Transcript|C1orf175_uc001cxt.1_Non-coding_Transcript|C1orf175_uc009vzr.1_Missense_Mutation_p.K250N	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	1048	HEAT 2.					integral to membrane	binding				0														0.153846	11.455746	15.89837	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55166854	55166854	2083	1	G	T	T	T	451	35	C1orf175	2	2
C1orf168	199920	broad.mit.edu	37	1	57252874	57252874	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57252874C>A	uc001cym.3	-	c.927G>T	c.(925-927)GTG>GTT	p.V309V	C1orf168_uc009vzu.1_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	309										ovary(2)	2														0.072464	-3.587103	9.433525	5	64	KEEP	---	---	---	---	capture		Silent	SNP	57252874	57252874	2079	1	C	A	A	A	262	21	C1orf168	2	2
DAB1	1600	broad.mit.edu	37	1	57476878	57476878	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57476878G>T	uc001cys.1	-	c.1512C>A	c.(1510-1512)ACC>ACA	p.T504T	DAB1_uc001cyt.1_Silent_p.T502T|DAB1_uc001cyq.1_Silent_p.T502T|DAB1_uc001cyr.1_Silent_p.T418T|DAB1_uc009vzw.1_Silent_p.T486T|DAB1_uc009vzx.1_Silent_p.T504T	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	537					cell differentiation|nervous system development					ovary(1)	1										395				0.072917	-1.643394	16.358603	7	89	KEEP	---	---	---	---	capture		Silent	SNP	57476878	57476878	4383	1	G	T	T	T	600	47	DAB1	2	2
HOOK1	51361	broad.mit.edu	37	1	60312847	60312847	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:60312847G>C	uc009wad.2	+	c.919G>C	c.(919-921)GAT>CAT	p.D307H	HOOK1_uc001czo.2_Missense_Mutation_p.D307H|HOOK1_uc001czp.2_Non-coding_Transcript|HOOK1_uc010oor.1_Missense_Mutation_p.D265H	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	307	Potential.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)													0.141414	28.824826	41.068445	14	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60312847	60312847	7574	1	G	C	C	C	429	33	HOOK1	3	3
PDE4B	5142	broad.mit.edu	37	1	66723362	66723362	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:66723362C>T	uc001dcn.2	+	c.509C>T	c.(508-510)GCC>GTC	p.A170V	PDE4B_uc009war.2_Missense_Mutation_p.A78V|PDE4B_uc001dco.2_Missense_Mutation_p.A170V|PDE4B_uc001dcp.2_Missense_Mutation_p.A155V	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	170					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)									0.064706	-10.448147	22.969604	11	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66723362	66723362	12061	1	C	T	T	T	338	26	PDE4B	2	2
DNAJC11	55735	broad.mit.edu	37	1	6705159	6705159	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6705159T>C	uc001aof.2	-	c.922A>G	c.(922-924)ATC>GTC	p.I308V	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Missense_Mutation_p.I308V|DNAJC11_uc010nzu.1_Missense_Mutation_p.I218V	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	308					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)	1	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)										0.076923	0.947273	34.258895	14	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6705159	6705159	4813	1	T	C	C	C	650	50	DNAJC11	4	4
C1orf173	127254	broad.mit.edu	37	1	75037557	75037557	+	Silent	SNP	G	T	T	rs17095605	by1000genomes	TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75037557G>T	uc001dgg.2	-	c.3837C>A	c.(3835-3837)CCC>CCA	p.P1279P		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1279	Glu-rich.									ovary(3)|central_nervous_system(1)	4														0.032895	-25.653388	10.542261	5	147	KEEP	---	---	---	---	capture		Silent	SNP	75037557	75037557	2081	1	G	T	T	T	600	47	C1orf173	2	2
COL24A1	255631	broad.mit.edu	37	1	86591502	86591502	+	Nonsense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86591502G>A	uc001dlj.2	-	c.517C>T	c.(517-519)CAA>TAA	p.Q173*	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_Non-coding_Transcript|COL24A1_uc010ose.1_Non-coding_Transcript|COL24A1_uc010osf.1_Non-coding_Transcript|COL24A1_uc009wcq.2_Nonsense_Mutation_p.Q173*	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	173	TSP N-terminal.|Laminin G-like.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4				all cancers(265;0.0627)|Epithelial(280;0.0689)										0.153846	12.824199	17.292027	6	33	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	86591502	86591502	3821	1	G	A	A	A	611	47	COL24A1	5	2
CLCA4	22802	broad.mit.edu	37	1	87041270	87041270	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:87041270G>C	uc009wcs.2	+	c.1939G>C	c.(1939-1941)GAT>CAT	p.D647H	CLCA4_uc009wct.2_Missense_Mutation_p.D410H|CLCA4_uc009wcu.2_Missense_Mutation_p.D467H	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	647						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)										0.057692	-6.002275	15.306225	6	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87041270	87041270	3595	1	G	C	C	C	533	41	CLCA4	3	3
GBP4	115361	broad.mit.edu	37	1	89662871	89662871	+	Missense_Mutation	SNP	C	A	A	rs116361109	by1000genomes	TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89662871C>A	uc001dnb.2	-	c.157G>T	c.(157-159)GTG>TTG	p.V53L		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	53	Poly-Val.					cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)										0.292683	33.382969	34.961809	12	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89662871	89662871	6542	1	C	A	A	A	247	19	GBP4	1	1
BRDT	676	broad.mit.edu	37	1	92446675	92446675	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:92446675C>A	uc010osz.1	+	c.1702C>A	c.(1702-1704)CTA>ATA	p.L568I	BRDT_uc001dok.3_Missense_Mutation_p.L564I|BRDT_uc001dol.3_Missense_Mutation_p.L564I|BRDT_uc009wdf.2_Missense_Mutation_p.L491I|BRDT_uc010ota.1_Missense_Mutation_p.L518I|BRDT_uc010otb.1_Missense_Mutation_p.L518I|BRDT_uc001dom.3_Missense_Mutation_p.L564I	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(1)|ovary(1)|lung(1)	3		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)						576				0.046154	-7.366553	6.85738	3	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92446675	92446675	1539	1	C	A	A	A	259	20	BRDT	2	2
DPYD	1806	broad.mit.edu	37	1	97981407	97981407	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:97981407C>G	uc001drv.2	-	c.1615G>C	c.(1615-1617)GGA>CGA	p.G539R		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	539					'de novo' pyrimidine base biosynthetic process|oxidation-reduction process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|breast(2)	5		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)					533				0.216216	15.972508	18.73243	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97981407	97981407	4929	1	C	G	G	G	299	23	DPYD	3	3
LPPR5	163404	broad.mit.edu	37	1	99418657	99418657	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99418657G>T	uc001dsb.2	-	c.590C>A	c.(589-591)GCT>GAT	p.A197D	LPPR5_uc001dsc.2_Missense_Mutation_p.A197D	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	197	Helical; (Potential).					integral to membrane	hydrolase activity				0														0.333333	41.478407	42.66204	16	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99418657	99418657	9301	1	G	T	T	T	442	34	LPPR5	2	2
LPPR4	9890	broad.mit.edu	37	1	99772549	99772549	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99772549C>A	uc001dse.2	+	c.2275C>A	c.(2275-2277)CGG>AGG	p.R759R	LPPR4_uc010oue.1_Silent_p.R701R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	759							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)										0.295082	53.954418	56.230813	18	43	KEEP	---	---	---	---	capture		Silent	SNP	99772549	99772549	9300	1	C	A	A	A	243	19	LPPR4	1	1
ZNF343	79175	broad.mit.edu	37	20	2464827	2464827	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2464827C>A	uc002wge.1	-	c.780G>T	c.(778-780)CCG>CCT	p.P260P	ZNF343_uc010gao.1_Silent_p.P260P|ZNF343_uc002wgd.1_Silent_p.P170P	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1														0.075758	-1.16959	11.000618	5	61	KEEP	---	---	---	---	capture		Silent	SNP	2464827	2464827	18450	20	C	A	A	A	392	31	ZNF343	1	1
ACSS1	84532	broad.mit.edu	37	20	24988421	24988421	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:24988421C>A	uc002wub.2	-	c.2047G>T	c.(2047-2049)GAC>TAC	p.D683Y	ACSS1_uc002wuc.2_Missense_Mutation_p.D681Y|ACSS1_uc010gdc.2_Missense_Mutation_p.D478Y|ACSS1_uc002wud.1_Non-coding_Transcript|ACSS1_uc002wua.2_Missense_Mutation_p.D600Y	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	683					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.086957	-3.95876	12.318065	8	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24988421	24988421	189	20	C	A	A	A	390	30	ACSS1	2	2
TTLL9	164395	broad.mit.edu	37	20	30512840	30512840	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30512840G>A	uc010gdx.1	+	c.693G>A	c.(691-693)GTG>GTA	p.V231V	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Silent_p.V118V|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_Non-coding_Transcript	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	231	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.148148	6.182159	9.391586	4	23	KEEP	---	---	---	---	capture		Silent	SNP	30512840	30512840	17289	20	G	A	A	A	587	46	TTLL9	2	2
C20orf186	149954	broad.mit.edu	37	20	31672780	31672780	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31672780C>A	uc010zue.1	+	c.760C>A	c.(760-762)CGT>AGT	p.R254S		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	254						cytoplasm|extracellular region	lipid binding				0														0.166667	9.293973	11.814617	4	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31672780	31672780	2176	20	C	A	A	A	299	23	C20orf186	1	1
PLUNC	51297	broad.mit.edu	37	20	31828099	31828099	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31828099C>G	uc002wyv.2	+	c.489C>G	c.(487-489)ATC>ATG	p.I163M	PLUNC_uc002wyt.3_Missense_Mutation_p.I163M|PLUNC_uc002wyu.3_Missense_Mutation_p.I163M	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	163					innate immune response	extracellular region	lipid binding				0														0.214286	91.891426	104.59116	36	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31828099	31828099	12541	20	C	G	G	G	408	32	PLUNC	3	3
AHCY	191	broad.mit.edu	37	20	32873372	32873372	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:32873372C>T	uc002xai.2	-	c.1041G>A	c.(1039-1041)CTG>CTA	p.L347L	AHCY_uc002xaj.2_Silent_p.L319L	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	347					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0														0.24	30.874623	33.961032	12	38	KEEP	---	---	---	---	capture		Silent	SNP	32873372	32873372	412	20	C	T	T	T	262	21	AHCY	2	2
DLGAP4	22839	broad.mit.edu	37	20	35061089	35061089	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35061089C>G	uc002xff.2	+	c.969C>G	c.(967-969)TGC>TGG	p.C323W	DLGAP4_uc010zvp.1_Missense_Mutation_p.C323W	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	323					cell-cell signaling	membrane	protein binding			ovary(1)|skin(1)	2	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)												0.222222	7.0833	8.369755	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35061089	35061089	4742	20	C	G	G	G	337	26	DLGAP4	3	3
C20orf132	140699	broad.mit.edu	37	20	35748921	35748921	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35748921C>G	uc010zvu.1	-	c.2245G>C	c.(2245-2247)GGC>CGC	p.G749R	C20orf132_uc002xgk.2_Missense_Mutation_p.G371R	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	308											0		Myeloproliferative disorder(115;0.00878)												0.25	7.885808	8.801144	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35748921	35748921	2163	20	C	G	G	G	312	24	C20orf132	3	3
RPN2	6185	broad.mit.edu	37	20	35832307	35832307	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35832307A>G	uc002xgp.2	+	c.499A>G	c.(499-501)ACA>GCA	p.T167A	RPN2_uc002xgo.3_Missense_Mutation_p.T167A|RPN2_uc010gfw.2_Missense_Mutation_p.T10A|RPN2_uc002xgq.2_Missense_Mutation_p.T135A	NM_002951	NP_002942	P04844	RPN2_HUMAN	ribophorin II isoform 1 precursor	167	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)	2		Myeloproliferative disorder(115;0.00878)												0.2	14.837446	17.345172	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35832307	35832307	14087	20	A	G	G	G	130	10	RPN2	4	4
SLC32A1	140679	broad.mit.edu	37	20	37356650	37356650	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37356650A>T	uc002xjc.2	+	c.946A>T	c.(946-948)AGC>TGC	p.S316C		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	316	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)									0.111111	4.474969	9.856596	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37356650	37356650	15062	20	A	T	T	T	91	7	SLC32A1	3	3
PPP1R16B	26051	broad.mit.edu	37	20	37529274	37529274	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37529274T>A	uc002xje.2	+	c.518T>A	c.(517-519)CTC>CAC	p.L173H	PPP1R16B_uc010ggc.2_Missense_Mutation_p.L173H	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	173					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			kidney(1)	1		Myeloproliferative disorder(115;0.00878)												0.116279	2.132343	8.399974	5	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37529274	37529274	12801	20	T	A	A	A	702	54	PPP1R16B	3	3
KCNK15	60598	broad.mit.edu	37	20	43379220	43379220	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43379220G>T	uc002xmr.2	+	c.734G>T	c.(733-735)CGC>CTC	p.R245L		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	245	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)												0.09434	3.467417	12.199425	5	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43379220	43379220	8367	20	G	T	T	T	494	38	KCNK15	1	1
PIGT	51604	broad.mit.edu	37	20	44048032	44048032	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44048032C>T	uc002xoh.1	+	c.591C>T	c.(589-591)TCC>TCT	p.S197S	PIGT_uc010ghb.1_Silent_p.S187S|PIGT_uc010zwt.1_Non-coding_Transcript|PIGT_uc010ghd.1_Intron|PIGT_uc010ghc.1_Intron|PIGT_uc010ghe.1_Silent_p.S160S|PIGT_uc010ghf.1_Intron|PIGT_uc002xoj.1_Silent_p.S197S|PIGT_uc002xok.1_Intron|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_Non-coding_Transcript|PIGT_uc010zwv.1_5'UTR|PIGT_uc010zww.1_Silent_p.S141S|PIGT_uc010zwx.1_Intron|PIGT_uc010zwy.1_Silent_p.S95S|PIGT_uc010zwz.1_Intron|PIGT_uc010zxa.1_Missense_Mutation_p.P25L|PIGT_uc002xol.1_Silent_p.S53S|PIGT_uc010zxb.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	197	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)												0.097561	2.372678	9.020497	4	37	KEEP	---	---	---	---	capture		Silent	SNP	44048032	44048032	12323	20	C	T	T	T	262	21	PIGT	2	2
SLC12A5	57468	broad.mit.edu	37	20	44663650	44663650	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44663650A>T	uc010zxl.1	+	c.185A>T	c.(184-186)GAG>GTG	p.E62V	SLC12A5_uc002xra.2_Missense_Mutation_p.E39V|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.E39V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	62	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)									0.116667	5.668363	14.384104	7	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44663650	44663650	14881	20	A	T	T	T	143	11	SLC12A5	3	3
ZNF334	55713	broad.mit.edu	37	20	45130108	45130108	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45130108C>A	uc002xsc.2	-	c.1870G>T	c.(1870-1872)GGA>TGA	p.G624*	ZNF334_uc002xsa.2_Nonsense_Mutation_p.G647*|ZNF334_uc002xsb.2_Nonsense_Mutation_p.G586*|ZNF334_uc002xsd.2_Nonsense_Mutation_p.G586*|ZNF334_uc010ghl.2_Nonsense_Mutation_p.G623*	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)												0.149425	22.028508	32.275315	13	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45130108	45130108	18443	20	C	A	A	A	312	24	ZNF334	5	2
PREX1	57580	broad.mit.edu	37	20	47265980	47265980	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47265980C>A	uc002xtw.1	-	c.3163G>T	c.(3163-3165)GGG>TGG	p.G1055W	PREX1_uc002xtv.1_Missense_Mutation_p.G352W	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1055					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)											0.132075	10.912258	17.861861	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47265980	47265980	12919	20	C	A	A	A	273	21	PREX1	2	2
PREX1	57580	broad.mit.edu	37	20	47265982	47265982	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47265982C>A	uc002xtw.1	-	c.3161G>T	c.(3160-3162)AGT>ATT	p.S1054I	PREX1_uc002xtv.1_Missense_Mutation_p.S351I	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1054					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)											0.132075	11.494395	18.46025	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47265982	47265982	12919	20	C	A	A	A	260	20	PREX1	2	2
RASSF2	9770	broad.mit.edu	37	20	4778672	4778672	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4778672T>A	uc002wld.2	-	c.119A>T	c.(118-120)CAG>CTG	p.Q40L	RASSF2_uc002wlc.2_5'Flank|RASSF2_uc002wle.2_Non-coding_Transcript|RASSF2_uc002wlf.2_Missense_Mutation_p.Q40L	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	40					cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						Melanoma(158;1891 3343 50738)								0.193548	12.031354	14.749527	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4778672	4778672	13547	20	T	A	A	A	715	55	RASSF2	3	3
TSHZ2	128553	broad.mit.edu	37	20	51871053	51871053	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:51871053G>T	uc002xwo.2	+	c.1056G>T	c.(1054-1056)TTG>TTT	p.L352F		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	352					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(23;0.1)											0.031915	-16.144254	6.365546	3	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51871053	51871053	17175	20	G	T	T	T	594	46	TSHZ2	2	2
TSHZ2	128553	broad.mit.edu	37	20	51872417	51872417	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:51872417C>T	uc002xwo.2	+	c.2420C>T	c.(2419-2421)ACC>ATC	p.T807I		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	807					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(23;0.1)											0.275362	44.902456	48.03446	19	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51872417	51872417	17175	20	C	T	T	T	234	18	TSHZ2	2	2
ZNF217	7764	broad.mit.edu	37	20	52198754	52198754	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:52198754C>A	uc002xwq.3	-	c.612G>T	c.(610-612)CAG>CAT	p.Q204H	ZNF217_uc010gij.1_Missense_Mutation_p.Q196H	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	204					regulation of transcription, DNA-dependent	histone deacetylase complex	promoter binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			skin(2)|large_intestine(1)|lung(1)|ovary(1)	5	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)							185				0.062893	-10.164767	21.465479	10	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52198754	52198754	18363	20	C	A	A	A	311	24	ZNF217	2	2
CYP24A1	1591	broad.mit.edu	37	20	52782353	52782353	+	Nonsense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:52782353A>T	uc002xwv.2	-	c.660T>A	c.(658-660)TAT>TAA	p.Y220*	CYP24A1_uc002xwu.1_Nonsense_Mutation_p.Y78*|CYP24A1_uc002xww.2_Nonsense_Mutation_p.Y220*	NM_000782	NP_000773	Q07973	CP24A_HUMAN	cytochrome P450 family 24 subfamily A	220					hormone biosynthetic process|osteoblast differentiation|oxidation-reduction process|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			ovary(1)|lung(1)	2	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)					1427				0.084746	2.334513	12.652139	5	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52782353	52782353	4319	20	A	T	T	T	102	8	CYP24A1	5	3
PROKR2	128674	broad.mit.edu	37	20	5283320	5283320	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:5283320A>T	uc010zqw.1	-	c.521T>A	c.(520-522)ATC>AAC	p.I174N	PROKR2_uc010zqx.1_Missense_Mutation_p.I174N|PROKR2_uc010zqy.1_Missense_Mutation_p.I174N	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	174	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5														0.069307	-3.042064	16.299391	7	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5283320	5283320	12996	20	A	T	T	T	156	12	PROKR2	3	3
CBLN4	140689	broad.mit.edu	37	20	54573763	54573763	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:54573763C>A	uc002xxa.2	-	c.456G>T	c.(454-456)GGG>GGT	p.G152G		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	152	C1q.					cell junction|extracellular region|synapse				ovary(3)|pancreas(1)	4			Colorectal(105;0.202)											0.051282	-8.743086	7.863966	4	74	KEEP	---	---	---	---	capture		Silent	SNP	54573763	54573763	2826	20	C	A	A	A	275	22	CBLN4	2	2
MC3R	4159	broad.mit.edu	37	20	54824621	54824621	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:54824621C>T	uc002xxb.2	+	c.722C>T	c.(721-723)GCA>GTA	p.A241V		NM_019888	NP_063941	P41968	MC3R_HUMAN	melanocortin 3 receptor	278	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			ovary(2)	2			Colorectal(105;0.202)											0.090909	-1.696451	9.488836	6	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54824621	54824621	9754	20	C	T	T	T	325	25	MC3R	2	2
CTCFL	140690	broad.mit.edu	37	20	56098207	56098207	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56098207A>T	uc010giw.1	-	c.671T>A	c.(670-672)GTG>GAG	p.V224E	CTCFL_uc010gix.1_Missense_Mutation_p.V224E|CTCFL_uc002xym.2_Missense_Mutation_p.V224E|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.V224E|CTCFL_uc010gjb.1_Missense_Mutation_p.V224E|CTCFL_uc010gjc.1_Missense_Mutation_p.V224E|CTCFL_uc010gjd.1_Missense_Mutation_p.V224E|CTCFL_uc010gje.2_Missense_Mutation_p.V224E|CTCFL_uc010gjf.2_Missense_Mutation_p.V19E|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.V224E|CTCFL_uc010gji.1_Missense_Mutation_p.V19E|CTCFL_uc010gjj.1_Missense_Mutation_p.V224E|CTCFL_uc010gjk.1_Missense_Mutation_p.V224E|CTCFL_uc010gjl.1_Missense_Mutation_p.V224E	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	224					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of gene expression|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|promoter binding|transcription activator activity|zinc ion binding			ovary(2)|large_intestine(1)	3	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)											0.114458	21.615548	45.938002	19	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56098207	56098207	4160	20	A	T	T	T	78	6	CTCFL	3	3
PCK1	5105	broad.mit.edu	37	20	56138123	56138123	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56138123C>A	uc002xyn.3	+	c.650C>A	c.(649-651)ACG>AAG	p.T217K	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	217					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity				0	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)											0.108434	10.865856	23.431674	9	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56138123	56138123	12001	20	C	A	A	A	247	19	PCK1	1	1
ZNF831	128611	broad.mit.edu	37	20	57766799	57766799	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57766799C>T	uc002yan.2	+	c.725C>T	c.(724-726)TCG>TTG	p.S242L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	242						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.082192	0.817664	13.762536	6	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57766799	57766799	18784	20	C	T	T	T	403	31	ZNF831	1	1
PHACTR3	116154	broad.mit.edu	37	20	58348388	58348388	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:58348388G>T	uc002yau.2	+	c.806G>T	c.(805-807)CGG>CTG	p.R269L	PHACTR3_uc002yat.2_Missense_Mutation_p.R266L|PHACTR3_uc010zzw.1_Missense_Mutation_p.R228L|PHACTR3_uc002yav.2_Missense_Mutation_p.R228L|PHACTR3_uc002yaw.2_Missense_Mutation_p.R228L|PHACTR3_uc002yax.2_Missense_Mutation_p.R158L	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	269						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)											0.04	-14.380563	8.419816	4	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58348388	58348388	12234	20	G	T	T	T	507	39	PHACTR3	1	1
MCM8	84515	broad.mit.edu	37	20	5966774	5966774	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:5966774A>T	uc002wmk.2	+	c.2280A>T	c.(2278-2280)ACA>ACT	p.T760T	MCM8_uc002wmi.2_Silent_p.T720T|MCM8_uc002wmj.2_Silent_p.T704T|MCM8_uc002wml.2_Silent_p.T720T|MCM8_uc010gbp.2_Silent_p.T673T|MCM8_uc002wmm.2_Silent_p.T258T	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	720					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1														0.097561	2.567691	9.218451	4	37	KEEP	---	---	---	---	capture		Silent	SNP	5966774	5966774	9782	20	A	T	T	T	80	7	MCM8	3	3
NTSR1	4923	broad.mit.edu	37	20	61386226	61386226	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61386226G>T	uc002ydf.2	+	c.904G>T	c.(904-906)GTG>TTG	p.V302L		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	302	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled				0	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GBM(37;400 780 6403 19663 35669)			p.V302M(NCIH3255-Tumor)	297				0.458333	37.126065	37.161864	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61386226	61386226	11115	20	G	T	T	T	520	40	NTSR1	1	1
TPTE	7179	broad.mit.edu	37	21	10933919	10933919	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10933919C>A	uc002yip.1	-	c.960G>T	c.(958-960)AAG>AAT	p.K320N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.K302N|TPTE_uc002yir.1_Missense_Mutation_p.K282N|TPTE_uc010gkv.1_Missense_Mutation_p.K182N	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	320	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)										0.074766	-6.645699	52.923004	24	297	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10933919	10933919	16974	21	C	A	A	A	311	24	TPTE	2	2
HSPA13	6782	broad.mit.edu	37	21	15750613	15750613	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:15750613G>A	uc002yjt.2	-	c.487C>T	c.(487-489)CTT>TTT	p.L163F	HSPA13_uc011abx.1_Intron	NM_006948	NP_008879	P48723	HSP13_HUMAN	heat shock protein 70kDa family member 13	163						endoplasmic reticulum|microsome	ATP binding			kidney(1)	1														0.146341	11.146219	16.055481	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15750613	15750613	7705	21	G	A	A	A	429	33	HSPA13	2	2
NCAM2	4685	broad.mit.edu	37	21	22656612	22656612	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:22656612C>G	uc002yld.1	+	c.229C>G	c.(229-231)CGG>GGG	p.R77G	NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.R102G	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	77	Ig-like C2-type 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)										0.076923	0.908849	8.040343	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22656612	22656612	10602	21	C	G	G	G	243	19	NCAM2	3	3
NCAM2	4685	broad.mit.edu	37	21	22841100	22841100	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:22841100G>A	uc002yld.1	+	c.1892G>A	c.(1891-1893)AGA>AAA	p.R631K	NCAM2_uc011acb.1_Missense_Mutation_p.R489K	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	631	Fibronectin type-III 2.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)										0.090909	1.499412	7.067068	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22841100	22841100	10602	21	G	A	A	A	429	33	NCAM2	2	2
ADAMTS5	11096	broad.mit.edu	37	21	28306945	28306945	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28306945C>A	uc002ymg.2	-	c.1529G>T	c.(1528-1530)GGC>GTC	p.G510V		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	510	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.2	15.976749	19.32989	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28306945	28306945	270	21	C	A	A	A	338	26	ADAMTS5	2	2
KRTAP13-3	337960	broad.mit.edu	37	21	31797994	31797994	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31797994G>T	uc002yob.1	-	c.237C>A	c.(235-237)TCC>TCA	p.S79S		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	79	4.|5 X 10 AA approximate repeats.					intermediate filament				ovary(1)|lung(1)	2														0.171429	10.525847	14.101296	6	29	KEEP	---	---	---	---	capture		Silent	SNP	31797994	31797994	8839	21	G	T	T	T	444	35	KRTAP13-3	2	2
KRTAP13-4	284827	broad.mit.edu	37	21	31802608	31802608	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31802608C>A	uc011acw.1	+	c.15C>A	c.(13-15)TGC>TGA	p.C5*		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	5						intermediate filament					0						NSCLC(196;2401 3038 18004 35753)								0.0625	-8.293956	10.847489	6	90	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31802608	31802608	8840	21	C	A	A	A	363	28	KRTAP13-4	5	2
ABCG1	9619	broad.mit.edu	37	21	43645891	43645891	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43645891A>T	uc011aev.1	+	c.186A>T	c.(184-186)GGA>GGT	p.G62G	ABCG1_uc002zan.2_Silent_p.G53G|ABCG1_uc002zam.2_Silent_p.G29G|ABCG1_uc002zao.2_Silent_p.G48G|ABCG1_uc002zap.2_Silent_p.G51G|ABCG1_uc002zaq.2_Silent_p.G51G|ABCG1_uc002zar.2_Silent_p.G62G	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	51	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|integral to plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid binding|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)	2					Adenosine triphosphate(DB00171)									0.123288	11.128024	21.260596	9	64	KEEP	---	---	---	---	capture		Silent	SNP	43645891	43645891	69	21	A	T	T	T	119	10	ABCG1	3	3
CCT8L2	150160	broad.mit.edu	37	22	17072912	17072913	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17072912_17072913TG>AT	uc002zlp.1	-	c.528_529CA>AT	c.(526-531)CCCATG>CCATTG	p.M177L		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	177					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)												0.224138	31.5623	35.606373	13	45	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	17072912	17072913	3088	22	TG	AT	AT	AT	663	51	CCT8L2	3	3
C22orf31	25770	broad.mit.edu	37	22	29456675	29456675	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:29456675G>T	uc003aej.1	-	c.160C>A	c.(160-162)CCA>ACA	p.P54T		NM_015370	NP_056185	O95567	CV031_HUMAN	hypothetical protein LOC25770	54											0														0.126761	10.666368	20.290401	9	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29456675	29456675	2224	22	G	T	T	T	559	43	C22orf31	2	2
RNF215	200312	broad.mit.edu	37	22	30782716	30782716	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:30782716T>A	uc003ahp.2	-	c.318A>T	c.(316-318)CCA>CCT	p.P106P	RNF215_uc011akw.1_Silent_p.P11P	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	106	Extracellular (Potential).					integral to membrane	zinc ion binding			central_nervous_system(1)	1														0.176471	19.845252	24.874542	9	42	KEEP	---	---	---	---	capture		Silent	SNP	30782716	30782716	13957	22	T	A	A	A	704	55	RNF215	3	3
GAL3ST1	9514	broad.mit.edu	37	22	30951023	30951023	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:30951023C>A	uc003aig.1	-	c.1189G>T	c.(1189-1191)GAG>TAG	p.E397*	GAL3ST1_uc003aih.1_Nonsense_Mutation_p.E397*|GAL3ST1_uc003aii.1_Nonsense_Mutation_p.E397*|GAL3ST1_uc010gvz.1_Nonsense_Mutation_p.E397*	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	397	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0														0.169811	16.295514	21.724316	9	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30951023	30951023	6461	22	C	A	A	A	403	31	GAL3ST1	5	1
PATZ1	23598	broad.mit.edu	37	22	31722987	31722987	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:31722987T>A	uc003akq.2	-	c.1954A>T	c.(1954-1956)AAC>TAC	p.N652Y	PATZ1_uc003akp.2_3'UTR|PATZ1_uc003akr.2_Missense_Mutation_p.N606Y	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2										104				0.101695	1.338186	10.676305	6	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31722987	31722987	11896	22	T	A	A	A	806	62	PATZ1	3	3
IL2RB	3560	broad.mit.edu	37	22	37524495	37524495	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37524495T>G	uc003aqv.1	-	c.1297A>C	c.(1297-1299)AGT>CGT	p.S433R		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	433	Cytoplasmic (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)									0.230769	7.518212	8.381777	3	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37524495	37524495	7988	22	T	G	G	G	715	55	IL2RB	4	4
APOBEC3H	164668	broad.mit.edu	37	22	39498047	39498047	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:39498047G>T	uc011aoh.1	+	c.543G>T	c.(541-543)AAG>AAT	p.K181N	APOBEC3H_uc011aoi.1_Non-coding_Transcript|APOBEC3H_uc003axa.3_Non-coding_Transcript	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	181	Potential.						hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Melanoma(58;0.04)													0.285714	9.792246	10.370618	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39498047	39498047	806	22	G	T	T	T	451	35	APOBEC3H	2	2
GRAP2	9402	broad.mit.edu	37	22	40367050	40367050	+	Missense_Mutation	SNP	C	T	T	rs12759		TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40367050C>T	uc003ayh.1	+	c.955C>T	c.(955-957)CTC>TTC	p.L319F	GRAP2_uc003ayi.2_Non-coding_Transcript|GRAP2_uc011aom.1_Missense_Mutation_p.L293F|GRAP2_uc011aon.1_Missense_Mutation_p.L253F|GRAP2_uc010gya.1_Missense_Mutation_p.L319F|GRAP2_uc011aoo.1_Missense_Mutation_p.L247F|GRAP2_uc011aop.1_Missense_Mutation_p.L279F|GRAP2_uc011aoq.1_Missense_Mutation_p.L206F|GRAP2_uc003ayj.1_Missense_Mutation_p.L319F	NM_004810	NP_004801	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	319	SH3 2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)	1														0.059701	-3.514657	10.032801	4	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40367050	40367050	7030	22	C	T	T	T	312	24	GRAP2	2	2
NFAM1	150372	broad.mit.edu	37	22	42783046	42783046	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42783046G>C	uc003bcn.3	-	c.702C>G	c.(700-702)ATC>ATG	p.I234M		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	NFAT activation molecule 1 precursor	234	Cytoplasmic (Potential).|ITAM.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|plasma membrane	transmembrane receptor activity				0														0.115942	11.965952	21.970374	8	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42783046	42783046	10758	22	G	C	C	C	473	37	NFAM1	3	3
PHF21B	112885	broad.mit.edu	37	22	45312390	45312390	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:45312390C>A	uc003bfn.2	-	c.334G>T	c.(334-336)GCC>TCC	p.A112S	PHF21B_uc003bfm.2_5'UTR|PHF21B_uc011aqk.1_Missense_Mutation_p.A100S|PHF21B_uc011aql.1_Missense_Mutation_p.A112S|PHF21B_uc011aqm.1_Missense_Mutation_p.A100S	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	112							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)										0.126984	9.655989	18.125704	8	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45312390	45312390	12257	22	C	A	A	A	364	28	PHF21B	2	2
FBLN1	2192	broad.mit.edu	37	22	45929024	45929024	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:45929024C>G	uc010gzz.2	+	c.740C>G	c.(739-741)TCT>TGT	p.S247C	FBLN1_uc003bgg.1_Missense_Mutation_p.S209C|FBLN1_uc003bgh.2_Missense_Mutation_p.S209C|FBLN1_uc003bgi.1_Missense_Mutation_p.S209C|FBLN1_uc003bgj.1_Missense_Mutation_p.S209C	NM_001996	NP_001987	P23142	FBLN1_HUMAN	fibulin 1 isoform C precursor	209	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)										0.061224	-3.01555	6.832825	3	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45929024	45929024	5934	22	C	G	G	G	416	32	FBLN1	3	3
TUBGCP6	85378	broad.mit.edu	37	22	50659383	50659383	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:50659383C>A	uc003bkb.1	-	c.3405G>T	c.(3403-3405)GGG>GGT	p.G1135G	TUBGCP6_uc003bka.1_Silent_p.G222G|TUBGCP6_uc010har.1_Silent_p.G1127G|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1135	9 X 27 AA tandem repeats.|5.				G2/M transition of mitotic cell cycle|microtubule nucleation	cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)										0.159722	37.650513	53.527726	23	121	KEEP	---	---	---	---	capture		Silent	SNP	50659383	50659383	17325	22	C	A	A	A	327	26	TUBGCP6	2	2
MFSD9	84804	broad.mit.edu	37	2	103335231	103335231	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103335231C>A	uc002tcb.2	-	c.1073G>T	c.(1072-1074)AGC>ATC	p.S358I	MFSD9_uc010fja.2_Non-coding_Transcript	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	358					response to antibiotic	integral to membrane	tetracycline:hydrogen antiporter activity			ovary(2)|breast(2)	4														0.35	38.745854	39.536257	14	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103335231	103335231	9929	2	C	A	A	A	364	28	MFSD9	2	2
C2orf48	348738	broad.mit.edu	37	2	10350553	10350553	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:10350553G>A	uc002rai.1	+	c.310G>A	c.(310-312)GGG>AGG	p.G104R		NM_182626	NP_872432	Q96LS8	CB048_HUMAN	hypothetical protein LOC348738	104											0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)										0.176471	18.356519	23.379509	9	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10350553	10350553	2258	2	G	A	A	A	455	35	C2orf48	2	2
C2orf48	348738	broad.mit.edu	37	2	10350596	10350596	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:10350596G>T	uc002rai.1	+	c.353G>T	c.(352-354)GGG>GTG	p.G118V		NM_182626	NP_872432	Q96LS8	CB048_HUMAN	hypothetical protein LOC348738	118											0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)										0.122807	7.894012	15.825387	7	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10350596	10350596	2258	2	G	T	T	T	559	43	C2orf48	2	2
SEPT10	151011	broad.mit.edu	37	2	110325410	110325410	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:110325410C>T	uc002tey.2	-	c.744G>A	c.(742-744)AAG>AAA	p.K248K	SEPT10_uc010ywu.1_Silent_p.K81K|SEPT10_uc002tew.2_Silent_p.K248K|SEPT10_uc002tex.2_Silent_p.K225K|SEPT10_uc010ywv.1_Silent_p.K114K|SEPT10_uc002tev.1_Silent_p.K55K|SEPT10_uc010fjo.2_Non-coding_Transcript|SEPT10_uc002tez.1_Silent_p.K23K	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	septin 10 isoform 1	248					cell cycle|cell division	septin complex	GTP binding				0														0.086207	1.546123	11.594503	5	53	KEEP	---	---	---	---	capture		Silent	SNP	110325410	110325410	14546	2	C	T	T	T	311	24	SEPT10	2	2
NPHP1	4867	broad.mit.edu	37	2	110881425	110881425	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:110881425A>T	uc002tfl.3	-	c.2145T>A	c.(2143-2145)TTT>TTA	p.F715L	NPHP1_uc002tfm.3_Missense_Mutation_p.F659L|NPHP1_uc002tfn.3_Missense_Mutation_p.F714L|NPHP1_uc002tfo.3_Missense_Mutation_p.F596L|NPHP1_uc010ywx.1_Missense_Mutation_p.F658L	NM_000272	NP_000263	O15259	NPHP1_HUMAN	nephrocystin 1 isoform 1	714					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			ovary(2)	2														0.153846	12.124908	16.592408	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110881425	110881425	10983	2	A	T	T	T	63	5	NPHP1	3	3
MYO7B	4648	broad.mit.edu	37	2	128351172	128351172	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128351172C>T	uc002top.2	+	c.2197C>T	c.(2197-2199)CGG>TGG	p.R733W		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	733						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)										0.083333	0.86353	11.418008	5	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128351172	128351172	10478	2	C	T	T	T	347	27	MYO7B	1	1
LRP1B	53353	broad.mit.edu	37	2	141122263	141122263	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141122263C>A	uc002tvj.1	-	c.11098G>T	c.(11098-11100)GGA>TGA	p.G3700*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3700	Extracellular (Potential).|LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.113208	6.915109	14.736622	6	47	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	141122263	141122263	9328	2	C	A	A	A	273	21	LRP1B	5	2
LRP1B	53353	broad.mit.edu	37	2	141245256	141245256	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141245256T>C	uc002tvj.1	-	c.9173A>G	c.(9172-9174)TAT>TGT	p.Y3058C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3058	Extracellular (Potential).|LDL-receptor class B 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.220339	35.25368	39.507125	13	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141245256	141245256	9328	2	T	C	C	C	637	49	LRP1B	4	4
LRP1B	53353	broad.mit.edu	37	2	141607683	141607683	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141607683C>G	uc002tvj.1	-	c.4927G>C	c.(4927-4929)GTT>CTT	p.V1643L	LRP1B_uc010fnl.1_Missense_Mutation_p.V825L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1643	Extracellular (Potential).|LDL-receptor class B 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.038961	-10.297509	7.3299	3	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141607683	141607683	9328	2	C	G	G	G	221	17	LRP1B	3	3
LRP1B	53353	broad.mit.edu	37	2	141625694	141625694	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141625694C>A	uc002tvj.1	-	c.4308G>T	c.(4306-4308)GAG>GAT	p.E1436D	LRP1B_uc010fnl.1_Missense_Mutation_p.E618D	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1436	Extracellular (Potential).|LDL-receptor class B 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.138462	7.405396	15.716484	9	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141625694	141625694	9328	2	C	A	A	A	415	32	LRP1B	2	2
NBAS	51594	broad.mit.edu	37	2	15358968	15358968	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:15358968C>G	uc002rcc.1	-	c.6361G>C	c.(6361-6363)GAG>CAG	p.E2121Q	NBAS_uc002rcb.1_Intron|NBAS_uc010exl.1_Missense_Mutation_p.E1193Q|NBAS_uc002rcd.1_Intron	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	2121										ovary(2)|liver(1)	3														0.079365	1.639471	13.004081	5	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15358968	15358968	10582	2	C	G	G	G	377	29	NBAS	3	3
GPD2	2820	broad.mit.edu	37	2	157436299	157436299	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:157436299A>T	uc002tzf.3	+	c.2057A>T	c.(2056-2058)CAG>CTG	p.Q686L	GPD2_uc010zch.1_Missense_Mutation_p.Q459L|GPD2_uc002tzd.3_Missense_Mutation_p.Q686L|GPD2_uc002tze.1_Non-coding_Transcript	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2,	686	EF-hand 2.				cellular lipid metabolic process|oxidation-reduction process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			ovary(1)	1														0.26087	17.739498	18.929802	6	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157436299	157436299	6880	2	A	T	T	T	91	7	GPD2	3	3
FAP	2191	broad.mit.edu	37	2	163030285	163030285	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163030285G>A	uc002ucd.2	-	c.1982C>T	c.(1981-1983)ACA>ATA	p.T661I	FAP_uc010fpc.2_Missense_Mutation_p.T210I|FAP_uc010zct.1_Missense_Mutation_p.T636I|FAP_uc010fpd.2_Missense_Mutation_p.T140I	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	661	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3														0.132812	21.37854	38.155462	17	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163030285	163030285	5909	2	G	A	A	A	624	48	FAP	2	2
XIRP2	129446	broad.mit.edu	37	2	168102148	168102148	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168102148G>A	uc002udx.2	+	c.4246G>A	c.(4246-4248)GGC>AGC	p.G1416S	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G1241S|XIRP2_uc010fpq.2_Missense_Mutation_p.G1194S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1241	Xin 25.				actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.294118	25.935363	27.226134	10	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168102148	168102148	18011	2	G	A	A	A	611	47	XIRP2	2	2
XIRP2	129446	broad.mit.edu	37	2	168103039	168103039	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168103039G>A	uc002udx.2	+	c.5137G>A	c.(5137-5139)GTC>ATC	p.V1713I	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V1538I|XIRP2_uc010fpq.2_Missense_Mutation_p.V1491I|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1538					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.09375	1.098898	6.41006	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168103039	168103039	18011	2	G	A	A	A	624	48	XIRP2	2	2
TLK1	9874	broad.mit.edu	37	2	171910294	171910294	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171910294C>A	uc002ugo.2	-	c.772G>T	c.(772-774)GGA>TGA	p.G258*	TLK1_uc002ugn.2_Nonsense_Mutation_p.G237*|TLK1_uc002ugp.2_Nonsense_Mutation_p.G189*|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Nonsense_Mutation_p.G141*|TLK1_uc002ugr.1_Nonsense_Mutation_p.G20*	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 2	237	Potential.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|protein phosphorylation|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1										247				0.229299	73.420795	83.988046	36	121	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	171910294	171910294	16473	2	C	A	A	A	286	22	TLK1	5	2
OLA1	29789	broad.mit.edu	37	2	175006616	175006616	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175006616G>A	uc002uih.2	-	c.486C>T	c.(484-486)CCC>CCT	p.P162P	OLA1_uc002uii.2_Silent_p.P4P|OLA1_uc010fqq.2_Silent_p.P162P|OLA1_uc002uij.2_Silent_p.P4P|OLA1_uc002uik.2_Silent_p.P132P|OLA1_uc010fqr.2_Silent_p.P162P	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1 isoform 1	162					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			ovary(1)|breast(1)	2														0.111111	5.909947	13.985732	6	48	KEEP	---	---	---	---	capture		Silent	SNP	175006616	175006616	11255	2	G	A	A	A	600	47	OLA1	2	2
TTN	7273	broad.mit.edu	37	2	179455492	179455492	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179455492G>T	uc010zfg.1	-	c.53256C>A	c.(53254-53256)GTC>GTA	p.V17752V	TTN_uc010zfh.1_Silent_p.V11447V|TTN_uc010zfi.1_Silent_p.V11380V|TTN_uc010zfj.1_Silent_p.V11255V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2655										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				0.076087	-1.934638	14.996669	7	85	KEEP	---	---	---	---	capture		Silent	SNP	179455492	179455492	17290	2	G	T	T	T	574	45	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179577161	179577161	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179577161G>T	uc010zfg.1	-	c.23756C>A	c.(23755-23757)ACT>AAT	p.T7919N	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4580N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3555										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				0.060976	-6.648465	9.841619	5	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179577161	179577161	17290	2	G	T	T	T	468	36	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179585355	179585355	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179585355C>G	uc010zfg.1	-	c.19402G>C	c.(19402-19404)GGA>CGA	p.G6468R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3129R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3436										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				0.214286	6.616784	7.672745	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179585355	179585355	17290	2	C	G	G	G	312	24	TTN	3	3
CCDC141	285025	broad.mit.edu	37	2	179742780	179742780	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179742780C>A	uc002unf.1	-	c.85G>T	c.(85-87)GAC>TAC	p.D29Y	CCDC141_uc002ung.2_Missense_Mutation_p.D604Y	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	29							protein binding			ovary(7)|pancreas(2)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)											0.288136	41.941433	44.322899	17	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179742780	179742780	2895	2	C	A	A	A	377	29	CCDC141	2	2
ZNF804A	91752	broad.mit.edu	37	2	185801377	185801377	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185801377C>A	uc002uph.2	+	c.1254C>A	c.(1252-1254)TGC>TGA	p.C418*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	418						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.07563	-1.022173	20.951025	9	110	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	185801377	185801377	18768	2	C	A	A	A	324	25	ZNF804A	5	2
ZNF804A	91752	broad.mit.edu	37	2	185801697	185801697	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185801697C>A	uc002uph.2	+	c.1574C>A	c.(1573-1575)CCT>CAT	p.P525H		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	525						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.323077	58.534366	60.350636	21	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185801697	185801697	18768	2	C	A	A	A	312	24	ZNF804A	2	2
ZNF804A	91752	broad.mit.edu	37	2	185802923	185802923	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185802923C>A	uc002uph.2	+	c.2800C>A	c.(2800-2802)CTT>ATT	p.L934I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	934						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.076923	-1.266385	10.636273	5	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185802923	185802923	18768	2	C	A	A	A	364	28	ZNF804A	2	2
ZSWIM2	151112	broad.mit.edu	37	2	187692819	187692819	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:187692819C>A	uc002upu.1	-	c.1794G>T	c.(1792-1794)ATG>ATT	p.M598I		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	598					apoptosis		zinc ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)											0.076923	-0.279301	11.633331	5	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187692819	187692819	18845	2	C	A	A	A	273	21	ZSWIM2	2	2
ZSWIM2	151112	broad.mit.edu	37	2	187694603	187694603	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:187694603C>A	uc002upu.1	-	c.946G>T	c.(946-948)GTT>TTT	p.V316F		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	316					apoptosis		zinc ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)											0.108108	8.546264	19.812081	8	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187694603	187694603	18845	2	C	A	A	A	260	20	ZSWIM2	2	2
COL3A1	1281	broad.mit.edu	37	2	189870985	189870985	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189870985G>A	uc002uqj.1	+	c.3093G>A	c.(3091-3093)AAG>AAA	p.K1031K		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1031	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)					1079				0.09375	5.306682	15.917521	6	58	KEEP	---	---	---	---	capture		Silent	SNP	189870985	189870985	3826	2	G	A	A	A	451	35	COL3A1	2	2
COL3A1	1281	broad.mit.edu	37	2	189875573	189875573	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189875573G>A	uc002uqj.1	+	c.4211G>A	c.(4210-4212)GGA>GAA	p.G1404E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1404	Fibrillar collagen NC1.				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				0.121622	12.696464	23.01286	9	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189875573	189875573	3826	2	G	A	A	A	533	41	COL3A1	2	2
COL5A2	1290	broad.mit.edu	37	2	189931133	189931133	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189931133C>A	uc002uqk.2	-	c.1546G>T	c.(1546-1548)GGG>TGG	p.G516W	COL5A2_uc010frx.2_Missense_Mutation_p.G92W	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	516					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)											0.26455	129.667521	139.138202	50	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189931133	189931133	3835	2	C	A	A	A	312	24	COL5A2	2	2
MYO1B	4430	broad.mit.edu	37	2	192288585	192288585	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:192288585G>T	uc010fsg.2	+	c.3310G>T	c.(3310-3312)GAC>TAC	p.D1104Y	MYO1B_uc002usq.2_Missense_Mutation_p.D1046Y|MYO1B_uc002usr.2_Missense_Mutation_p.D1104Y|MYO1B_uc002usu.2_Missense_Mutation_p.D349Y|MYO1B_uc002usv.2_Missense_Mutation_p.D220Y	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	1104						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)											0.298969	69.664512	73.224514	29	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	192288585	192288585	10464	2	G	T	T	T	533	41	MYO1B	2	2
DNAH7	56171	broad.mit.edu	37	2	196729567	196729567	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196729567C>A	uc002utj.3	-	c.6812G>T	c.(6811-6813)TGT>TTT	p.C2271F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2271					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.108108	18.015715	40.530125	16	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196729567	196729567	4789	2	C	A	A	A	221	17	DNAH7	2	2
SATB2	23314	broad.mit.edu	37	2	200137222	200137222	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:200137222C>A	uc002uuy.1	-	c.1914G>T	c.(1912-1914)CTG>CTT	p.L638L	SATB2_uc010fsq.1_Silent_p.L520L|SATB2_uc002uuz.1_Silent_p.L638L|SATB2_uc002uva.1_Silent_p.L638L	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	638	Homeobox.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						Colon(30;262 767 11040 24421 36230)								0.057692	-3.800614	6.853705	3	49	KEEP	---	---	---	---	capture		Silent	SNP	200137222	200137222	14335	2	C	A	A	A	210	17	SATB2	2	2
AOX1	316	broad.mit.edu	37	2	201468757	201468757	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201468757C>A	uc002uvx.2	+	c.606C>A	c.(604-606)TTC>TTA	p.F202L		NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	202					inflammatory response|oxidation-reduction process|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)	5					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)									0.085106	0.07504	8.273616	4	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201468757	201468757	739	2	C	A	A	A	402	31	AOX1	1	1
MPP4	58538	broad.mit.edu	37	2	202550695	202550695	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202550695C>A	uc002uyk.3	-	c.439G>T	c.(439-441)GAG>TAG	p.E147*	MPP4_uc010ftj.2_Nonsense_Mutation_p.E147*|MPP4_uc010zhq.1_Nonsense_Mutation_p.E147*|MPP4_uc010zhr.1_Nonsense_Mutation_p.E147*|MPP4_uc010zhs.1_Intron|MPP4_uc002uyj.3_Intron|MPP4_uc010zht.1_Nonsense_Mutation_p.E120*|MPP4_uc002uyl.3_Non-coding_Transcript|MPP4_uc010ftk.2_Nonsense_Mutation_p.E147*|MPP4_uc002uym.1_Intron|MPP4_uc002uyn.2_Intron	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	147						cytoplasm	protein binding				0														0.202532	33.497386	39.961065	16	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	202550695	202550695	10128	2	C	A	A	A	377	29	MPP4	5	2
FZD7	8324	broad.mit.edu	37	2	202899448	202899448	+	Silent	SNP	G	C	C	rs35732430		TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202899448G>C	uc002uyw.1	+	c.78G>C	c.(76-78)CTG>CTC	p.L26L		NM_003507	NP_003498	O75084	FZD7_HUMAN	frizzled 7 precursor	26					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			skin(2)|ovary(1)	3														0.333333	37.944655	38.912852	13	26	KEEP	---	---	---	---	capture		Silent	SNP	202899448	202899448	6386	2	G	C	C	C	613	48	FZD7	3	3
CYP20A1	57404	broad.mit.edu	37	2	204111546	204111546	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:204111546G>T	uc010zif.1	+	c.191G>T	c.(190-192)AGA>ATA	p.R64I	CYP20A1_uc002uzv.3_Missense_Mutation_p.R64I|CYP20A1_uc002uzx.3_Intron|CYP20A1_uc002uzy.3_Intron|CYP20A1_uc002uzw.3_Non-coding_Transcript	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	64					oxidation-reduction process	integral to membrane	electron carrier activity|heme binding|monooxygenase activity				0														0.045455	-27.579528	11.651139	8	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204111546	204111546	4317	2	G	T	T	T	429	33	CYP20A1	2	2
PARD3B	117583	broad.mit.edu	37	2	206480373	206480373	+	Nonsense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206480373A>T	uc002var.1	+	c.3454A>T	c.(3454-3456)AAA>TAA	p.K1152*	PARD3B_uc002vao.1_Nonsense_Mutation_p.K1051*|PARD3B_uc002vap.1_Nonsense_Mutation_p.K1090*|PARD3B_uc002vaq.1_Nonsense_Mutation_p.K1083*	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	1152					cell cycle|cell division	endomembrane system|tight junction				ovary(1)|breast(1)	2		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)										0.111111	6.315479	14.387218	6	48	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	206480373	206480373	11861	2	A	T	T	T	65	5	PARD3B	5	3
NDUFS1	4719	broad.mit.edu	37	2	206991267	206991267	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206991267C>A	uc010ziq.1	-	c.2130G>T	c.(2128-2130)ATG>ATT	p.M710I	NDUFS1_uc002vbe.2_Missense_Mutation_p.M696I|NDUFS1_uc010zir.1_Missense_Mutation_p.M660I|NDUFS1_uc010zis.1_Missense_Mutation_p.M639I|NDUFS1_uc010zit.1_Missense_Mutation_p.M585I|NDUFS1_uc010ziu.1_Missense_Mutation_p.M580I	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	696					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)									0.12	3.534809	7.052866	3	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206991267	206991267	10690	2	C	A	A	A	377	29	NDUFS1	2	2
GPR1	2825	broad.mit.edu	37	2	207041555	207041555	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207041555C>A	uc002vbl.3	-	c.417G>T	c.(415-417)TTG>TTT	p.L139F	GPR1_uc010fue.2_Missense_Mutation_p.L139F|GPR1_uc010fuf.2_Missense_Mutation_p.L139F	NM_005279	NP_005270	P46091	GPR1_HUMAN	G protein-coupled receptor 1	139	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)										0.078431	-0.730026	8.524968	4	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207041555	207041555	6895	2	C	A	A	A	376	29	GPR1	2	2
ZDBF2	57683	broad.mit.edu	37	2	207169696	207169696	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207169696C>A	uc002vbp.2	+	c.444C>A	c.(442-444)CCC>CCA	p.P148P		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	148							nucleic acid binding|zinc ion binding			ovary(3)	3														0.36	26.467427	26.899086	9	16	KEEP	---	---	---	---	capture		Silent	SNP	207169696	207169696	18187	2	C	A	A	A	301	24	ZDBF2	2	2
ZDBF2	57683	broad.mit.edu	37	2	207171384	207171384	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207171384C>T	uc002vbp.2	+	c.2132C>T	c.(2131-2133)CCG>CTG	p.P711L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	711							nucleic acid binding|zinc ion binding			ovary(3)	3														0.227273	24.121266	27.134457	10	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207171384	207171384	18187	2	C	T	T	T	299	23	ZDBF2	1	1
CPS1	1373	broad.mit.edu	37	2	211438024	211438024	+	Silent	SNP	A	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211438024A>C	uc010fur.2	+	c.147A>C	c.(145-147)GCA>GCC	p.A49A	CPS1_uc002vee.3_Silent_p.A43A	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	43	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.067308	-6.361712	14.236866	7	97	KEEP	---	---	---	---	capture		Silent	SNP	211438024	211438024	3961	2	A	C	C	C	67	6	CPS1	4	4
CPS1	1373	broad.mit.edu	37	2	211525277	211525277	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211525277C>T	uc010fur.2	+	c.3843C>T	c.(3841-3843)TTC>TTT	p.F1281F	CPS1_uc002vee.3_Silent_p.F1275F|CPS1_uc010fus.2_Silent_p.F824F	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	1275	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.048611	-20.518358	11.074605	7	137	KEEP	---	---	---	---	capture		Silent	SNP	211525277	211525277	3961	2	C	T	T	T	376	29	CPS1	2	2
CPS1	1373	broad.mit.edu	37	2	211525286	211525286	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211525286G>T	uc010fur.2	+	c.3852G>T	c.(3850-3852)GTG>GTT	p.V1284V	CPS1_uc002vee.3_Silent_p.V1278V|CPS1_uc010fus.2_Silent_p.V827V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	1278	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)	12				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)										0.043165	-18.426983	12.633761	6	133	KEEP	---	---	---	---	capture		Silent	SNP	211525286	211525286	3961	2	G	T	T	T	600	47	CPS1	2	2
ERBB4	2066	broad.mit.edu	37	2	212251683	212251683	+	Nonsense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:212251683G>A	uc002veg.1	-	c.3376C>T	c.(3376-3378)CAG>TAG	p.Q1126*	ERBB4_uc002veh.1_Nonsense_Mutation_p.Q1110*|ERBB4_uc010zji.1_Nonsense_Mutation_p.Q1116*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.Q1100*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1126	Cytoplasmic (Potential).				cell proliferation|protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(12)|large_intestine(1)|breast(1)	14		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)						777	TSP Lung(8;0.080)			0.085366	-0.501735	13.785435	7	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	212251683	212251683	5402	2	G	A	A	A	611	47	ERBB4	5	2
BARD1	580	broad.mit.edu	37	2	215645838	215645838	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215645838T>A	uc002veu.2	-	c.760A>T	c.(760-762)ATA>TTA	p.I254L	BARD1_uc010zjm.1_Missense_Mutation_p.I110L	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	254					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)										0.22973	42.933805	47.892717	17	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215645838	215645838	1333	2	T	A	A	A	650	50	BARD1	3	3
TNS1	7145	broad.mit.edu	37	2	218700935	218700935	+	Splice_Site_SNP	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:218700935C>G	uc002vgt.2	-	c.2633_splice	c.e18-1	p.G878_splice	TNS1_uc002vgr.2_Splice_Site_SNP_p.G878_splice|TNS1_uc002vgs.2_Splice_Site_SNP_p.G878_splice|TNS1_uc010zjv.1_Splice_Site_SNP_p.G878_splice	NM_022648	NP_072174			tensin							cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)										0.125	8.367138	13.844624	5	35	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	218700935	218700935	16884	2	C	G	G	G	312	24	TNS1	5	3
SLC23A3	151295	broad.mit.edu	37	2	220034065	220034065	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220034065C>A	uc010zkr.1	-	c.384G>T	c.(382-384)CAG>CAT	p.Q128H	NHEJ1_uc002vjq.3_Non-coding_Transcript|SLC23A3_uc010zks.1_Missense_Mutation_p.Q128H|SLC23A3_uc010fwb.2_Missense_Mutation_p.Q128H|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'UTR	NM_001144890	NP_001138362	Q6PIS1	S23A3_HUMAN	solute carrier family 23 (nucleobase	128	Cytoplasmic (Potential).				transmembrane transport	integral to membrane	protein binding|transporter activity				0		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.051546	-11.103924	9.541378	5	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220034065	220034065	14961	2	C	A	A	A	415	32	SLC23A3	2	2
SPEG	10290	broad.mit.edu	37	2	220350089	220350089	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220350089G>T	uc010fwg.2	+	c.7631G>T	c.(7630-7632)CGG>CTG	p.R2544L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2544					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				0.085366	2.331575	16.563483	7	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220350089	220350089	15548	2	G	T	T	T	507	39	SPEG	1	1
SLC4A3	6508	broad.mit.edu	37	2	220505177	220505177	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220505177G>C	uc002vmo.3	+	c.3384G>C	c.(3382-3384)GTG>GTC	p.V1128V	SLC4A3_uc002vmp.3_Silent_p.V1101V|SLC4A3_uc010fwm.2_Silent_p.V651V	NM_201574	NP_963868	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	1101	Helical; (Potential).|Membrane (anion exchange).				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)										0.076923	0.417566	14.682345	6	72	KEEP	---	---	---	---	capture		Silent	SNP	220505177	220505177	15152	2	G	C	C	C	587	46	SLC4A3	3	3
IRS1	3667	broad.mit.edu	37	2	227661390	227661390	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:227661390C>A	uc002voh.3	-	c.2065G>T	c.(2065-2067)GTC>TTC	p.V689F		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	689					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			central_nervous_system(4)|lung(3)|ovary(1)|pancreas(1)	9		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)						143		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.285714	52.341614	55.257618	20	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	227661390	227661390	8144	2	C	A	A	A	247	19	IRS1	1	1
TRIP12	9320	broad.mit.edu	37	2	230657800	230657800	+	Nonsense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230657800G>A	uc002vpx.1	-	c.3949C>T	c.(3949-3951)CAG>TAG	p.Q1317*	TRIP12_uc002vpw.1_Nonsense_Mutation_p.Q1269*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.Q999*	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1269					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|breast(1)|central_nervous_system(1)	6		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)										0.076923	-0.242061	9.287141	4	48	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	230657800	230657800	17106	2	G	A	A	A	611	47	TRIP12	5	2
CHRND	1144	broad.mit.edu	37	2	233398755	233398755	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233398755G>T	uc002vsw.2	+	c.1162G>T	c.(1162-1164)GAG>TAG	p.E388*	CHRND_uc010zmg.1_Nonsense_Mutation_p.E373*|CHRND_uc010fyc.2_Nonsense_Mutation_p.E261*|CHRND_uc010zmh.1_Nonsense_Mutation_p.E194*	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	388	Cytoplasmic (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)										0.108434	10.825492	23.42695	9	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	233398755	233398755	3528	2	G	T	T	T	481	37	CHRND	5	1
UGT1A7	54577	broad.mit.edu	37	2	234591014	234591014	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234591014C>G	uc002vut.2	+	c.431C>G	c.(430-432)GCA>GGA	p.A144G	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.A144G	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN	UDP glycosyltransferase 1 family, polypeptide A7	144					coumarin metabolic process|drug metabolic process|excretion|flavone metabolic process|negative regulation of fatty acid metabolic process|retinoic acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)										0.113821	11.196319	29.780096	14	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234591014	234591014	17508	2	C	G	G	G	325	25	UGT1A7	3	3
ASB18	401036	broad.mit.edu	37	2	237172946	237172946	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:237172946C>G	uc010znh.1	-	c.43G>C	c.(43-45)GAT>CAT	p.D15H		NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box-containing 18	15					intracellular signal transduction					ovary(1)	1		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)										0.086207	4.032574	14.089806	5	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237172946	237172946	1040	2	C	G	G	G	416	32	ASB18	3	3
COL6A3	1293	broad.mit.edu	37	2	238253293	238253293	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238253293C>T	uc002vwl.2	-	c.7368G>A	c.(7366-7368)ACG>ACA	p.T2456T	COL6A3_uc002vwo.2_Silent_p.T2250T|COL6A3_uc010znj.1_Silent_p.T1849T|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Silent_p.T277T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2456	VWFA 11.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)										0.085714	2.009863	14.175101	6	64	KEEP	---	---	---	---	capture		Silent	SNP	238253293	238253293	3839	2	C	T	T	T	288	23	COL6A3	1	1
RBM44	375316	broad.mit.edu	37	2	238726448	238726448	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238726448G>T	uc002vxi.3	+	c.889G>T	c.(889-891)GGC>TGC	p.G297C		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	296							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)										0.090909	1.511101	7.068302	3	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238726448	238726448	13600	2	G	T	T	T	611	47	RBM44	2	2
PER2	8864	broad.mit.edu	37	2	239161618	239161618	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:239161618C>T	uc002vyc.2	-	c.3046G>A	c.(3046-3048)GCA>ACA	p.A1016T	PER2_uc010znv.1_Missense_Mutation_p.A1016T	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	1016					circadian rhythm|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			breast(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)										0.151163	25.535153	35.545389	13	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	239161618	239161618	12151	2	C	T	T	T	364	28	PER2	2	2
FKBP1B	2281	broad.mit.edu	37	2	24276809	24276809	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:24276809G>A	uc002rer.2	+	c.75G>A	c.(73-75)GTG>GTA	p.V25V	FKBP1B_uc002res.2_Silent_p.V25V|FKBP1B_uc002ret.2_Non-coding_Transcript|FKBP1B_uc002reu.2_Non-coding_Transcript	NM_004116	NP_004107	P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa isoform a	25	PPIase FKBP-type.				'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|cytosol|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.078431	-0.51387	8.724973	4	47	KEEP	---	---	---	---	capture		Silent	SNP	24276809	24276809	6145	2	G	A	A	A	587	46	FKBP1B	2	2
PLB1	151056	broad.mit.edu	37	2	28755041	28755041	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28755041C>T	uc002rmb.1	+	c.535C>T	c.(535-537)CTG>TTG	p.L179L	PLB1_uc010ezj.1_Silent_p.L179L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	179	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|breast(1)	7	Acute lymphoblastic leukemia(172;0.155)													0.141791	36.330623	52.913101	19	115	KEEP	---	---	---	---	capture		Silent	SNP	28755041	28755041	12450	2	C	T	T	T	311	24	PLB1	2	2
GALNT14	79623	broad.mit.edu	37	2	31165143	31165143	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31165143G>T	uc002rns.2	-	c.870C>A	c.(868-870)TTC>TTA	p.F290L	GALNT14_uc002rnq.2_Missense_Mutation_p.F265L|GALNT14_uc002rnr.2_Missense_Mutation_p.F285L|GALNT14_uc010ymr.1_Missense_Mutation_p.F250L|GALNT14_uc010ezo.1_Missense_Mutation_p.F252L|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	285	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0	Acute lymphoblastic leukemia(172;0.155)													0.272727	37.705355	40.263596	15	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31165143	31165143	6476	2	G	T	T	T	477	37	GALNT14	1	1
EHD3	30845	broad.mit.edu	37	2	31489370	31489370	+	Nonsense_Mutation	SNP	G	T	T	rs35925176		TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:31489370G>T	uc002rnu.2	+	c.1408G>T	c.(1408-1410)GAG>TAG	p.E470*	EHD3_uc010ymt.1_3'UTR	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	470	EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)													0.342105	32.259046	33.098092	13	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31489370	31489370	5168	2	G	T	T	T	533	41	EHD3	5	2
VIT	5212	broad.mit.edu	37	2	36994405	36994405	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:36994405T>A	uc002rpl.2	+	c.656T>A	c.(655-657)GTG>GAG	p.V219E	VIT_uc010ynf.1_Intron|VIT_uc002rpm.2_Missense_Mutation_p.V212E|VIT_uc010ezv.2_Missense_Mutation_p.V212E|VIT_uc010ezw.2_Missense_Mutation_p.V212E	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	219						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)												0.428571	37.502469	37.62527	12	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36994405	36994405	17738	2	T	A	A	A	767	59	VIT	3	3
PRKD3	23683	broad.mit.edu	37	2	37543459	37543459	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37543459C>A	uc002rqd.2	-	c.209G>T	c.(208-210)CGG>CTG	p.R70L	PRKD3_uc002rqf.1_Missense_Mutation_p.R70L	NM_005813	NP_005804	O94806	KPCD3_HUMAN	protein kinase D3	70					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|protein phosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)				Melanoma(80;621 1355 8613 11814 51767)				569				0.164835	33.001692	42.676684	15	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37543459	37543459	12963	2	C	A	A	A	299	23	PRKD3	1	1
SLC8A1	6546	broad.mit.edu	37	2	40655842	40655842	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40655842C>A	uc002rrx.2	-	c.1579G>T	c.(1579-1581)GCC>TCC	p.A527S	SLC8A1_uc002rry.2_Missense_Mutation_p.A527S|SLC8A1_uc002rrz.2_Missense_Mutation_p.A527S|SLC8A1_uc002rsa.2_Missense_Mutation_p.A527S|SLC8A1_uc002rsd.3_Missense_Mutation_p.A527S|SLC8A1_uc002rsb.1_Missense_Mutation_p.A527S|SLC8A1_uc010fan.1_Missense_Mutation_p.A527S|SLC8A1_uc002rsc.1_Missense_Mutation_p.A527S	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	527	Calx-beta 2.|Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)									0.1	5.600773	15.10535	6	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40655842	40655842	15203	2	C	A	A	A	325	25	SLC8A1	2	2
ABCG8	64241	broad.mit.edu	37	2	44099139	44099139	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44099139G>A	uc002rtq.2	+	c.989G>A	c.(988-990)CGC>CAC	p.R330H	ABCG8_uc010yoa.1_Missense_Mutation_p.R330H	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	330	Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|intestinal cholesterol absorption|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.25	28.108643	30.605199	11	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44099139	44099139	73	2	G	A	A	A	494	38	ABCG8	1	1
SIX3	6496	broad.mit.edu	37	2	45169936	45169936	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:45169936C>A	uc002run.1	+	c.693C>A	c.(691-693)CCC>CCA	p.P231P		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	231	Homeobox.		P -> R (in HPE2).		visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.153846	7.482512	10.461894	4	22	KEEP	---	---	---	---	capture		Silent	SNP	45169936	45169936	14843	2	C	A	A	A	262	21	SIX3	2	2
SRBD1	55133	broad.mit.edu	37	2	45646961	45646961	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:45646961C>G	uc002rus.2	-	c.2122G>C	c.(2122-2124)GTG>CTG	p.V708L	SRBD1_uc010yoc.1_Missense_Mutation_p.V227L	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	708					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding				0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)											0.074627	-0.528738	11.872064	5	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45646961	45646961	15647	2	C	G	G	G	260	20	SRBD1	3	3
FSHR	2492	broad.mit.edu	37	2	49247236	49247236	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:49247236T>A	uc002rww.2	-	c.288A>T	c.(286-288)AAA>AAT	p.K96N	FSHR_uc002rwx.2_Missense_Mutation_p.K96N|FSHR_uc010fbn.2_Missense_Mutation_p.K96N|FSHR_uc010fbo.1_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	96	LRR 2.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)	4		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									0.253165	209.116256	226.56744	80	236	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49247236	49247236	6324	2	T	A	A	A	673	52	FSHR	3	3
CCDC88A	55704	broad.mit.edu	37	2	55555429	55555429	+	Splice_Site_SNP	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55555429C>A	uc002ryv.2	-	c.2994_splice	c.e17+1	p.T998_splice	CCDC88A_uc010yoz.1_Splice_Site_SNP_p.T999_splice|CCDC88A_uc010ypa.1_Splice_Site_SNP_p.T998_splice|CCDC88A_uc002ryu.2_Splice_Site_SNP_p.T281_splice|CCDC88A_uc002rys.2_Intron|CCDC88A_uc002ryw.2_Splice_Site_SNP_p.T282_splice|CCDC88A_uc010fby.1_Intron	NM_001135597	NP_001129069			coiled-coil domain containing 88A isoform 1						activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)	2														0.285714	11.994077	12.570984	4	10	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	55555429	55555429	2988	2	C	A	A	A	260	20	CCDC88A	5	2
USP34	9736	broad.mit.edu	37	2	61505300	61505300	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:61505300C>G	uc002sbe.2	-	c.5433G>C	c.(5431-5433)CAG>CAC	p.Q1811H	USP34_uc002sbf.2_5'UTR	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1811					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(8)|breast(1)	9			Epithelial(17;0.229)											0.217391	11.262214	12.956312	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61505300	61505300	17629	2	C	G	G	G	311	24	USP34	3	3
FAM161A	84140	broad.mit.edu	37	2	62054330	62054330	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:62054330C>A	uc002sbm.3	-	c.1915G>T	c.(1915-1917)GAT>TAT	p.D639Y	FAM161A_uc010ypo.1_Missense_Mutation_p.D583Y|FAM161A_uc002sbn.3_Missense_Mutation_p.D393Y|FAM161A_uc010fcm.1_Non-coding_Transcript	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	583					response to stimulus|visual perception					large_intestine(2)|ovary(1)	3														0.264151	68.59973	73.98058	28	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62054330	62054330	5676	2	C	A	A	A	377	29	FAM161A	2	2
ARHGAP25	9938	broad.mit.edu	37	2	69049695	69049695	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69049695C>A	uc010fdg.2	+	c.1424C>A	c.(1423-1425)TCA>TAA	p.S475*	ARHGAP25_uc002seu.2_Nonsense_Mutation_p.S474*|ARHGAP25_uc010yql.1_Nonsense_Mutation_p.S435*|ARHGAP25_uc002sew.2_Nonsense_Mutation_p.S467*|ARHGAP25_uc002sex.2_Nonsense_Mutation_p.S468*|ARHGAP25_uc002sey.2_Nonsense_Mutation_p.S201*	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	474					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4														0.209302	37.400928	44.133939	18	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	69049695	69049695	886	2	C	A	A	A	377	29	ARHGAP25	5	2
BMP10	27302	broad.mit.edu	37	2	69098246	69098246	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69098246G>T	uc002sez.1	-	c.245C>A	c.(244-246)CCA>CAA	p.P82Q		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	82					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2														0.115385	9.455016	20.79106	9	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69098246	69098246	1482	2	G	T	T	T	611	47	BMP10	2	2
LOXL3	84695	broad.mit.edu	37	2	74763528	74763528	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74763528C>A	uc002smp.1	-	c.983G>T	c.(982-984)TGG>TTG	p.W328L	LOXL3_uc002smo.1_5'UTR|LOXL3_uc010ffm.1_Missense_Mutation_p.W328L|LOXL3_uc002smq.1_Missense_Mutation_p.W183L|LOXL3_uc010ffn.1_Missense_Mutation_p.W183L	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	328	SRCR 3.				oxidation-reduction process	extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0														0.363636	54.762459	55.670539	20	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74763528	74763528	9274	2	C	A	A	A	273	21	LOXL3	2	2
DOK1	1796	broad.mit.edu	37	2	74782721	74782721	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74782721C>T	uc002sms.2	+	c.380C>T	c.(379-381)GCG>GTG	p.A127V	LOXL3_uc010ffm.1_5'Flank|LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_5'UTR|DOK1_uc010ffo.2_5'UTR|DOK1_uc002smt.2_5'UTR|DOK1_uc002smu.2_5'UTR|DOK1_uc010yrz.1_Missense_Mutation_p.A116V|DOK1_uc002smv.2_5'UTR|DOK1_uc002smw.1_5'UTR	NM_001381	NP_001372	Q99704	DOK1_HUMAN	docking protein 1	127					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding				0						Esophageal Squamous(36;520 860 12502 33616 51270)								0.1	1.995591	8.368617	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74782721	74782721	4880	2	C	T	T	T	351	27	DOK1	1	1
REG3G	130120	broad.mit.edu	37	2	79253237	79253237	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79253237C>A	uc002snw.2	+	c.18C>A	c.(16-18)GCC>GCA	p.A6A	REG3G_uc002snx.2_Silent_p.A6A|REG3G_uc010ffu.2_Silent_p.A6A	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	6					acute-phase response	extracellular region	sugar binding				0														0.181818	5.877211	7.994881	4	18	KEEP	---	---	---	---	capture		Silent	SNP	79253237	79253237	13682	2	C	A	A	A	275	22	REG3G	2	2
REG1B	5968	broad.mit.edu	37	2	79314050	79314050	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79314050T>G	uc002sny.2	-	c.71A>C	c.(70-72)GAG>GCG	p.E24A	REG1B_uc010ffv.1_Missense_Mutation_p.E24A|REG1B_uc010ffw.2_Missense_Mutation_p.E24A	NM_006507	NP_006498	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta precursor	24					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)	1														0.070423	-5.465495	8.197458	5	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79314050	79314050	13680	2	T	G	G	G	702	54	REG1B	4	4
REG1A	5967	broad.mit.edu	37	2	79348008	79348008	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79348008C>A	uc002snz.2	+	c.21C>A	c.(19-21)TAC>TAA	p.Y7*	REG1A_uc010ffx.1_Nonsense_Mutation_p.Y7*|REG1A_uc010ysd.1_Nonsense_Mutation_p.Y7*	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	7				SSY -> NSF (in Ref. 3; AAA60546/ AAA60545).	positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0														0.16	14.978276	20.474569	8	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	79348008	79348008	13679	2	C	A	A	A	259	20	REG1A	5	2
LRRTM1	347730	broad.mit.edu	37	2	80529463	80529463	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80529463C>A	uc002sok.1	-	c.1482G>T	c.(1480-1482)CCG>CCT	p.P494P	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	494	Cytoplasmic (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)	3														0.25	26.744779	29.00792	10	30	KEEP	---	---	---	---	capture		Silent	SNP	80529463	80529463	9415	2	C	A	A	A	392	31	LRRTM1	1	1
DUSP2	1844	broad.mit.edu	37	2	96809566	96809566	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:96809566T>C	uc002svk.3	-	c.941A>G	c.(940-942)CAC>CGC	p.H314R		NM_004418	NP_004409	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	314					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity				0		Ovarian(717;0.0228)												0.25	9.993139	10.901785	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96809566	96809566	5004	2	T	C	C	C	767	59	DUSP2	4	4
ARID5A	10865	broad.mit.edu	37	2	97217799	97217799	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:97217799A>T	uc002swe.2	+	c.1534A>T	c.(1534-1536)ACT>TCT	p.T512S	ARID5A_uc010yuq.1_Missense_Mutation_p.T460S|ARID5A_uc002swf.2_Missense_Mutation_p.T348S|ARID5A_uc002swg.2_Missense_Mutation_p.T460S	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	512					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|transcription repressor activity				0														0.09375	3.908577	14.519102	6	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97217799	97217799	936	2	A	T	T	T	78	6	ARID5A	3	3
GPR128	84873	broad.mit.edu	37	3	100362478	100362478	+	Splice_Site_SNP	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100362478G>T	uc003duc.2	+	c.946_splice	c.e8+1	p.N316_splice	GPR128_uc011bhc.1_Intron	NM_032787	NP_116176			G protein-coupled receptor 128 precursor						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						Pancreas(87;185 1975 7223 18722)								0.206897	11.818301	14.149357	6	23	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	100362478	100362478	6915	3	G	T	T	T	468	36	GPR128	5	2
CCDC54	84692	broad.mit.edu	37	3	107096575	107096575	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:107096575T>A	uc003dwi.1	+	c.141T>A	c.(139-141)ACT>ACA	p.T47T		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	47											0														0.142857	21.259883	31.570746	12	72	KEEP	---	---	---	---	capture		Silent	SNP	107096575	107096575	2947	3	T	A	A	A	704	55	CCDC54	3	3
KIAA2018	205717	broad.mit.edu	37	3	113376009	113376009	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113376009T>C	uc003eam.2	-	c.4520A>G	c.(4519-4521)CAT>CGT	p.H1507R	KIAA2018_uc003eal.2_Missense_Mutation_p.H1451R	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1507	Gln-rich.					membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|transcription regulator activity			ovary(1)	1														0.109091	4.551377	12.851985	6	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113376009	113376009	8579	3	T	C	C	C	663	51	KIAA2018	4	4
ATP6V1A	523	broad.mit.edu	37	3	113513802	113513802	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113513802C>A	uc003eao.2	+	c.1072C>A	c.(1072-1074)CTT>ATT	p.L358I	ATP6V1A_uc011bik.1_Missense_Mutation_p.L325I	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	358					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)	2														0.131313	19.3045	32.389928	13	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113513802	113513802	1196	3	C	A	A	A	312	24	ATP6V1A	2	2
GAP43	2596	broad.mit.edu	37	3	115395290	115395290	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:115395290C>T	uc003ebr.2	+	c.569C>T	c.(568-570)TCC>TTC	p.S190F	GAP43_uc003ebq.2_Missense_Mutation_p.S154F	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	growth associated protein 43 isoform 1	154					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of growth|response to wounding	cell junction|growth cone membrane|synapse	calmodulin binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.164)										0.131579	4.453351	9.470084	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115395290	115395290	6499	3	C	T	T	T	390	30	GAP43	2	2
ARHGAP31	57514	broad.mit.edu	37	3	119134119	119134119	+	Missense_Mutation	SNP	A	T	T	rs12107254		TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119134119A>T	uc003ecj.3	+	c.3343A>T	c.(3343-3345)ATT>TTT	p.I1115F		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1115					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						Pancreas(7;176 297 5394 51128 51241)								0.066667	-1.833344	9.829469	4	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119134119	119134119	892	3	A	T	T	T	104	8	ARHGAP31	3	3
FBXO40	51725	broad.mit.edu	37	3	121341476	121341476	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121341476C>A	uc003eeg.2	+	c.1200C>A	c.(1198-1200)CTC>CTA	p.L400L		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	400						centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)										0.107692	5.98996	15.901155	7	58	KEEP	---	---	---	---	capture		Silent	SNP	121341476	121341476	5986	3	C	A	A	A	379	30	FBXO40	2	2
DTX3L	151636	broad.mit.edu	37	3	122287986	122287986	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122287986T>A	uc003efk.2	+	c.1050T>A	c.(1048-1050)ATT>ATA	p.I350I	DTX3L_uc010hrj.2_Intron	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	350					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|breast(1)	3				GBM - Glioblastoma multiforme(114;0.0459)										0.173469	27.290027	37.200611	17	81	KEEP	---	---	---	---	capture		Silent	SNP	122287986	122287986	4981	3	T	A	A	A	822	64	DTX3L	3	3
HSPBAP1	79663	broad.mit.edu	37	3	122459941	122459941	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122459941C>A	uc003efu.1	-	c.845G>T	c.(844-846)CGG>CTG	p.R282L	HSPBAP1_uc003eft.1_5'UTR	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Hspb associated protein 1	282	JmjC.					cytoplasm				ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.0531)										0.216667	31.259882	35.690908	13	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122459941	122459941	7725	3	C	A	A	A	299	23	HSPBAP1	1	1
MYLK	4638	broad.mit.edu	37	3	123419658	123419658	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123419658G>C	uc003ego.2	-	c.2657C>G	c.(2656-2658)GCG>GGG	p.A886G	MYLK_uc011bjw.1_Missense_Mutation_p.A886G|MYLK_uc003egp.2_Missense_Mutation_p.A817G|MYLK_uc003egq.2_Missense_Mutation_p.A886G|MYLK_uc003egr.2_Missense_Mutation_p.A817G|MYLK_uc003egs.2_Missense_Mutation_p.A710G|MYLK_uc003egt.2_Missense_Mutation_p.A77G	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	886	5 X 28 AA approximate tandem repeats.|1-1.				aorta smooth muscle tissue morphogenesis|muscle contraction|protein phosphorylation	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)	6		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)						766				0.096154	2.689814	11.147763	5	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123419658	123419658	10451	3	G	C	C	C	494	38	MYLK	3	3
KALRN	8997	broad.mit.edu	37	3	124281868	124281868	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124281868G>A	uc003ehg.2	+	c.5108G>A	c.(5107-5109)AGC>AAC	p.S1703N	KALRN_uc003ehi.2_Missense_Mutation_p.S76N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1703	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)	5										1865				0.211538	24.55499	28.615081	11	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124281868	124281868	8279	3	G	A	A	A	442	34	KALRN	2	2
TF	7018	broad.mit.edu	37	3	133494456	133494456	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:133494456C>A	uc003epu.1	+	c.1867C>A	c.(1867-1869)CAG>AAG	p.Q623K	TF_uc011blt.1_Missense_Mutation_p.Q496K|TF_uc003epw.1_Missense_Mutation_p.Q62K|TF_uc003epv.1_Missense_Mutation_p.Q623K	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	623	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)	1					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)									0.078431	0.377719	9.62304	4	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133494456	133494456	16313	3	C	A	A	A	221	17	TF	2	2
EPHB1	2047	broad.mit.edu	37	3	134968293	134968293	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134968293G>T	uc003eqt.2	+	c.2806G>T	c.(2806-2808)GGC>TGC	p.G936C	EPHB1_uc003equ.2_Missense_Mutation_p.G497C	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	936	Cytoplasmic (Potential).|SAM.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.054545	-5.122405	6.378146	3	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134968293	134968293	5367	3	G	T	T	T	611	47	EPHB1	2	2
DZIP1L	199221	broad.mit.edu	37	3	137822353	137822353	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:137822353T>A	uc003erq.2	-	c.461A>T	c.(460-462)CAG>CTG	p.Q154L	DZIP1L_uc003err.1_Missense_Mutation_p.Q154L	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	154						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2														0.173913	6.783742	9.095669	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137822353	137822353	5050	3	T	A	A	A	715	55	DZIP1L	3	3
TRPC1	7220	broad.mit.edu	37	3	142523341	142523341	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142523341A>G	uc003evc.2	+	c.2023A>G	c.(2023-2025)AAA>GAA	p.K675E	TRPC1_uc003evb.2_Missense_Mutation_p.K641E	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	675					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2														0.125	7.851708	14.416573	6	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142523341	142523341	17129	3	A	G	G	G	65	5	TRPC1	4	4
CHST2	9435	broad.mit.edu	37	3	142841089	142841089	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:142841089G>T	uc003evm.2	+	c.1431G>T	c.(1429-1431)ACG>ACT	p.T477T		NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O)	477	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														0.054545	-4.779641	6.681668	3	52	KEEP	---	---	---	---	capture		Silent	SNP	142841089	142841089	3538	3	G	T	T	T	483	38	CHST2	1	1
ZIC1	7545	broad.mit.edu	37	3	147128031	147128031	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147128031G>T	uc003ewe.2	+	c.132G>T	c.(130-132)ATG>ATT	p.M44I		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	44					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|regulation of smoothened signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2														0.108696	5.357189	12.321805	5	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147128031	147128031	18269	3	G	T	T	T	611	47	ZIC1	2	2
HPS3	84343	broad.mit.edu	37	3	148857790	148857790	+	Splice_Site_SNP	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148857790G>T	uc003ewu.1	+	c.218_splice	c.e2-1	p.G73_splice	HPS3_uc003ewt.1_Splice_Site_SNP_p.G73_splice|HPS3_uc011bnq.1_Intron	NM_032383	NP_115759			Hermansky-Pudlak syndrome 3 protein							cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)											0.135135	7.665189	12.426478	5	32	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	148857790	148857790	7632	3	G	T	T	T	455	35	HPS3	5	2
GPR87	53836	broad.mit.edu	37	3	151012145	151012145	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151012145C>G	uc003eyt.2	-	c.889G>C	c.(889-891)GAA>CAA	p.E297Q	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	297	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)							39				0.064103	-2.679564	12.722606	5	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151012145	151012145	6991	3	C	G	G	G	416	32	GPR87	3	3
MED12L	116931	broad.mit.edu	37	3	151082916	151082916	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151082916G>T	uc003eyp.2	+	c.3002G>T	c.(3001-3003)AGT>ATT	p.S1001I	MED12L_uc011bnz.1_Missense_Mutation_p.S861I|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.S164I	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1001					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity			ovary(4)|large_intestine(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)							59				0.10274	12.632272	35.585398	15	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151082916	151082916	9818	3	G	T	T	T	468	36	MED12L	2	2
MED12L	116931	broad.mit.edu	37	3	151101662	151101662	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151101662C>A	uc003eyp.2	+	c.4671C>A	c.(4669-4671)GAC>GAA	p.D1557E	MED12L_uc011bnz.1_Missense_Mutation_p.D1417E|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.D720E	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1557					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	RNA polymerase II transcription mediator activity			ovary(4)|large_intestine(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)							59				0.1875	5.214015	6.679234	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151101662	151101662	9818	3	C	A	A	A	220	17	MED12L	2	2
GPR149	344758	broad.mit.edu	37	3	154147322	154147322	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:154147322G>T	uc003faa.2	-	c.83C>A	c.(82-84)CCG>CAG	p.P28Q		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	28	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)											0.1	6.331814	15.896815	6	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154147322	154147322	6929	3	G	T	T	T	507	39	GPR149	1	1
METTL6	131965	broad.mit.edu	37	3	15457374	15457374	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:15457374C>A	uc003bzs.1	-	c.436G>T	c.(436-438)GTA>TTA	p.V146L	METTL6_uc011avp.1_Missense_Mutation_p.V101L|METTL6_uc003bzt.1_Missense_Mutation_p.V146L|METTL6_uc010hen.1_5'Flank	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	methyltransferase like 6	146							methyltransferase activity				0														0.061538	-4.547762	8.48751	4	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15457374	15457374	9894	3	C	A	A	A	221	17	METTL6	2	2
B3GALNT1	8706	broad.mit.edu	37	3	160803765	160803765	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160803765C>A	uc003fdv.2	-	c.778G>T	c.(778-780)GTA>TTA	p.V260L	B3GALNT1_uc003fdw.2_Missense_Mutation_p.V260L|B3GALNT1_uc003fdx.2_Missense_Mutation_p.V260L|B3GALNT1_uc003fdy.2_Missense_Mutation_p.V260L|B3GALNT1_uc003fdz.2_Missense_Mutation_p.V260L|B3GALNT1_uc003fea.2_Missense_Mutation_p.V260L|B3GALNT1_uc011bpa.1_Intron	NM_033169	NP_149359	O75752	B3GL1_HUMAN	UDP-Gal:betaGlcNAc beta	260	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity				0			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)											0.095238	6.003682	16.359886	6	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160803765	160803765	1266	3	C	A	A	A	247	19	B3GALNT1	1	1
B3GALNT1	8706	broad.mit.edu	37	3	160804474	160804474	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160804474C>A	uc003fdv.2	-	c.69G>T	c.(67-69)CTG>CTT	p.L23L	B3GALNT1_uc003fdw.2_Silent_p.L23L|B3GALNT1_uc003fdx.2_Silent_p.L23L|B3GALNT1_uc003fdy.2_Silent_p.L23L|B3GALNT1_uc003fdz.2_Silent_p.L23L|B3GALNT1_uc003fea.2_Silent_p.L23L|B3GALNT1_uc011bpa.1_Silent_p.L23L	NM_033169	NP_149359	O75752	B3GL1_HUMAN	UDP-Gal:betaGlcNAc beta	23	Helical; Signal-anchor for type II membrane protein; (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity				0			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)											0.172414	10.47873	13.401646	5	24	KEEP	---	---	---	---	capture		Silent	SNP	160804474	160804474	1266	3	C	A	A	A	314	25	B3GALNT1	2	2
SI	6476	broad.mit.edu	37	3	164709192	164709192	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164709192C>A	uc003fei.2	-	c.5057G>T	c.(5056-5058)CGT>CTT	p.R1686L		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1686	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.160714	17.77103	23.88244	9	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164709192	164709192	14792	3	C	A	A	A	247	19	SI	1	1
SI	6476	broad.mit.edu	37	3	164714347	164714347	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164714347C>A	uc003fei.2	-	c.4668G>T	c.(4666-4668)AGG>AGT	p.R1556S		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1556	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.069444	-3.580916	10.206126	5	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164714347	164714347	14792	3	C	A	A	A	389	30	SI	2	2
SERPINI2	5276	broad.mit.edu	37	3	167167116	167167116	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167167116C>A	uc003fes.1	-	c.1069G>T	c.(1069-1071)GCA>TCA	p.A357S	SERPINI2_uc003fer.1_Missense_Mutation_p.A347S|SERPINI2_uc003fet.1_Missense_Mutation_p.A347S	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	347					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			urinary_tract(1)	1														0.125	4.307257	7.605155	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167167116	167167116	14607	3	C	A	A	A	325	25	SERPINI2	2	2
SKIL	6498	broad.mit.edu	37	3	170108878	170108878	+	Nonsense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170108878C>T	uc003fgu.2	+	c.1726C>T	c.(1726-1728)CAG>TAG	p.Q576*	SKIL_uc011bps.1_Nonsense_Mutation_p.Q556*|SKIL_uc003fgv.2_Nonsense_Mutation_p.Q530*|SKIL_uc003fgw.2_Nonsense_Mutation_p.Q576*	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	576	Potential.				cell cycle arrest|negative regulation of cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)							159				0.137931	6.143132	9.767894	4	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	170108878	170108878	14853	3	C	T	T	T	325	25	SKIL	5	2
SLC7A14	57709	broad.mit.edu	37	3	170198682	170198682	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170198682A>T	uc003fgz.2	-	c.1389T>A	c.(1387-1389)GCT>GCA	p.A463A	CLDN11_uc011bpt.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	463						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|liver(1)|central_nervous_system(1)	4	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)											0.0625	-3.65367	9.113221	4	60	KEEP	---	---	---	---	capture		Silent	SNP	170198682	170198682	15193	3	A	T	T	T	28	3	SLC7A14	3	3
FNDC3B	64778	broad.mit.edu	37	3	172028669	172028669	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172028669G>C	uc003fhy.2	+	c.1252G>C	c.(1252-1254)GAG>CAG	p.E418Q	FNDC3B_uc003fhz.3_Missense_Mutation_p.E418Q|FNDC3B_uc003fia.2_Missense_Mutation_p.E349Q	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	418	Fibronectin type-III 2.					endoplasmic reticulum|integral to membrane				ovary(1)|breast(1)	2	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)										0.164706	34.328686	43.372839	14	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172028669	172028669	6212	3	G	C	C	C	585	45	FNDC3B	3	3
SPATA16	83893	broad.mit.edu	37	3	172835231	172835231	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172835231C>A	uc003fin.3	-	c.291G>T	c.(289-291)CAG>CAT	p.Q97H		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	97					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)	2	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)											0.122449	20.846256	41.371321	18	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172835231	172835231	15509	3	C	A	A	A	311	24	SPATA16	2	2
KCNMB2	10242	broad.mit.edu	37	3	178546087	178546087	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:178546087T>A	uc003fjd.2	+	c.349T>A	c.(349-351)TAC>AAC	p.Y117N	KCNMB2_uc003fje.2_Missense_Mutation_p.Y117N|KCNMB2_uc003fjf.2_Missense_Mutation_p.Y117N|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	117	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(1)	1	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)											0.179487	13.709999	17.473701	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178546087	178546087	8380	3	T	A	A	A	741	57	KCNMB2	3	3
RTP2	344892	broad.mit.edu	37	3	187416408	187416408	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:187416408G>T	uc003fro.1	-	c.556C>A	c.(556-558)CCG>ACG	p.P186T		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	receptor transporting protein 2	186	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding				0	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)										0.12766	7.314403	13.670775	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187416408	187416408	14214	3	G	T	T	T	546	42	RTP2	2	2
TMEM207	131920	broad.mit.edu	37	3	190147509	190147509	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:190147509C>A	uc003fsj.2	-	c.316G>T	c.(316-318)GCT>TCT	p.A106S		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	transmembrane protein 207 precursor	106						integral to membrane					0	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)										0.096154	3.039943	11.541173	5	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190147509	190147509	16667	3	C	A	A	A	364	28	TMEM207	2	2
MUC4	4585	broad.mit.edu	37	3	195497124	195497124	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:195497124A>G	uc011bto.1	-	c.12977T>C	c.(12976-12978)GTC>GCC	p.V4326A	MUC4_uc003fuz.2_Intron|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_Non-coding_Transcript|MUC4_uc003fvd.2_Non-coding_Transcript|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_Non-coding_Transcript|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Non-coding_Transcript|MUC4_uc011bth.1_Missense_Mutation_p.V18A|MUC4_uc011bti.1_Missense_Mutation_p.V18A|MUC4_uc011btj.1_Missense_Mutation_p.V195A|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Missense_Mutation_p.V218A|MUC4_uc003fvp.2_Missense_Mutation_p.V167A|MUC4_uc010hzu.1_Missense_Mutation_p.V1066A	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1211	NIDO.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)										0.157895	5.12769	7.238004	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	195497124	195497124	10372	3	A	G	G	G	130	10	MUC4	4	4
RARB	5915	broad.mit.edu	37	3	25622195	25622195	+	Silent	SNP	C	A	A	rs115482149	by1000genomes	TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:25622195C>A	uc011awl.1	+	c.789C>A	c.(787-789)GCC>GCA	p.A263A	RARB_uc003cdi.1_Silent_p.A144A|RARB_uc003cdh.2_Silent_p.A256A	NM_016152	NP_057236	P10826	RARB_HUMAN	retinoic acid receptor, beta isoform 2	263	Ligand-binding.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|pancreas(1)	2					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)					250				0.068966	-1.131019	9.990284	4	54	KEEP	---	---	---	---	capture		Silent	SNP	25622195	25622195	13513	3	C	A	A	A	288	23	RARB	1	1
DLEC1	9940	broad.mit.edu	37	3	38126765	38126766	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38126765_38126766GG>TT	uc003chp.1	+	c.1262_1263GG>TT	c.(1261-1263)GGG>GTT	p.G421V	DLEC1_uc003cho.1_Missense_Mutation_p.G421V|DLEC1_uc010hgv.1_Missense_Mutation_p.G421V|DLEC1_uc010hgw.1_Intron|DLEC1_uc003chq.1_Intron	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	421					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|breast(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)										0.054054	-7.86146	7.660887	4	70	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	38126765	38126766	4732	3	GG	TT	TT	TT	559	43	DLEC1	2	2
CHL1	10752	broad.mit.edu	37	3	424236	424236	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:424236C>T	uc003bot.2	+	c.2058C>T	c.(2056-2058)ACC>ACT	p.T686T	CHL1_uc003bou.2_Silent_p.T670T|CHL1_uc003bow.1_Silent_p.T670T|CHL1_uc011asi.1_Silent_p.T686T	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	670	Fibronectin type-III 1.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				central_nervous_system(4)|large_intestine(2)|ovary(1)	7		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)						659				0.09375	2.606117	13.22284	6	58	KEEP	---	---	---	---	capture		Silent	SNP	424236	424236	3483	3	C	T	T	T	262	21	CHL1	2	2
ABHD5	51099	broad.mit.edu	37	3	43744035	43744035	+	Silent	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:43744035A>G	uc003cmx.2	+	c.462A>G	c.(460-462)CTA>CTG	p.L154L		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	154					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			ovary(1)	1		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)										0.045455	-9.450284	9.945085	4	84	KEEP	---	---	---	---	capture		Silent	SNP	43744035	43744035	86	3	A	G	G	G	184	15	ABHD5	4	4
CDCP1	64866	broad.mit.edu	37	3	45153697	45153697	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:45153697C>A	uc003com.2	-	c.533G>T	c.(532-534)TGC>TTC	p.C178F	CDCP1_uc003con.2_Missense_Mutation_p.C178F	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	178	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)										0.045977	-10.659652	8.467239	4	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45153697	45153697	3222	3	C	A	A	A	325	25	CDCP1	2	2
PLXNB1	5364	broad.mit.edu	37	3	48465380	48465380	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48465380T>A	uc003csw.2	-	c.641A>T	c.(640-642)TAC>TTC	p.Y214F	PLXNB1_uc003csu.2_Missense_Mutation_p.Y214F|PLXNB1_uc003csx.2_Missense_Mutation_p.Y214F|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	214	Extracellular (Potential).|Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)										0.181818	7.189976	9.281897	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48465380	48465380	12549	3	T	A	A	A	741	57	PLXNB1	3	3
COL7A1	1294	broad.mit.edu	37	3	48619147	48619147	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48619147C>A	uc003ctz.2	-	c.4714G>T	c.(4714-4716)GGG>TGG	p.G1572W	MIR711_hsa-mir-711|MI0012488_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1572	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(2)	9				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.072165	-2.954385	15.326675	7	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48619147	48619147	3842	3	C	A	A	A	312	24	COL7A1	2	2
UQCRC1	7384	broad.mit.edu	37	3	48637934	48637934	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48637934G>A	uc003cuc.1	-	c.1197C>T	c.(1195-1197)GCC>GCT	p.A399A	UQCRC1_uc003cua.1_Silent_p.A283A|UQCRC1_uc003cub.1_Silent_p.A398A|UQCRC1_uc003cud.1_Silent_p.A397A	NM_003365	NP_003356	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	398					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	NSCLC(81;1112 1427 27031 32409 45529)								0.075	-0.207701	7.206574	3	37	KEEP	---	---	---	---	capture		Silent	SNP	48637934	48637934	17580	3	G	A	A	A	548	43	UQCRC1	2	2
RBM6	10180	broad.mit.edu	37	3	50103766	50103767	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50103766_50103767CC>TT	uc003cyc.2	+	c.2774_2775CC>TT	c.(2773-2775)CCC>CTT	p.P925L	RBM6_uc010hlc.1_3'UTR|RBM6_uc003cyd.2_Missense_Mutation_p.P403L|RBM6_uc003cye.2_Missense_Mutation_p.P403L|RBM6_uc011bdi.1_Missense_Mutation_p.P267L|RBM6_uc010hld.1_Non-coding_Transcript|RBM6_uc010hle.1_Non-coding_Transcript|RBM6_uc010hlf.1_Non-coding_Transcript	NM_005777	NP_005768	P78332	RBM6_HUMAN	RNA binding motif protein 6	925					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)										0.129032	5.894101	10.035924	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	50103766	50103767	13606	3	CC	TT	TT	TT	286	22	RBM6	2	2
HYAL3	8372	broad.mit.edu	37	3	50332756	50332756	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50332756C>A	uc003czd.1	-	c.278G>T	c.(277-279)GGG>GTG	p.G93V	HYAL3_uc003czc.1_Missense_Mutation_p.G93V|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Missense_Mutation_p.G93V	NM_003549	NP_003540	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3 precursor	93					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)										0.171717	33.634724	43.702052	17	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50332756	50332756	7765	3	C	A	A	A	286	22	HYAL3	2	2
MAGI1	9223	broad.mit.edu	37	3	65367734	65367734	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:65367734C>A	uc003dmn.2	-	c.2519G>T	c.(2518-2520)GGT>GTT	p.G840V	MAGI1_uc003dmm.2_Missense_Mutation_p.G868V|MAGI1_uc003dmo.2_Missense_Mutation_p.G868V|MAGI1_uc003dmp.2_Missense_Mutation_p.G840V|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Missense_Mutation_p.G151V	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	868	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			kidney(1)|pancreas(1)	2		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)										0.066667	-4.80482	6.871494	4	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65367734	65367734	9573	3	C	A	A	A	234	18	MAGI1	2	2
CNTN3	5067	broad.mit.edu	37	3	74411047	74411047	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:74411047T>A	uc003dpm.1	-	c.1358A>T	c.(1357-1359)CAT>CTT	p.H453L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	453	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)	4		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)										0.066667	-1.610572	7.146693	3	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74411047	74411047	3780	3	T	A	A	A	663	51	CNTN3	3	3
PROS1	5627	broad.mit.edu	37	3	93611874	93611874	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:93611874G>T	uc003drb.3	-	c.1058C>A	c.(1057-1059)GCA>GAA	p.A353E	PROS1_uc010hoo.2_Missense_Mutation_p.A222E|PROS1_uc003dqz.3_Missense_Mutation_p.A222E	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	353	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)									0.135593	8.153436	15.778502	8	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93611874	93611874	13001	3	G	T	T	T	598	46	PROS1	2	2
PROS1	5627	broad.mit.edu	37	3	93624698	93624698	+	Silent	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:93624698A>G	uc003drb.3	-	c.531T>C	c.(529-531)AAT>AAC	p.N177N	PROS1_uc010hoo.2_Silent_p.N46N|PROS1_uc003dqz.3_Silent_p.N46N	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	177	EGF-like 2; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)									0.092105	1.372387	14.13172	7	69	KEEP	---	---	---	---	capture		Silent	SNP	93624698	93624698	13001	3	A	G	G	G	206	16	PROS1	4	4
OR5K3	403277	broad.mit.edu	37	3	98110287	98110287	+	Missense_Mutation	SNP	C	A	A	rs114784912	by1000genomes	TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98110287C>A	uc011bgw.1	+	c.778C>A	c.(778-780)CCA>ACA	p.P260T		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.081967	0.786327	11.582735	5	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98110287	98110287	11578	3	C	A	A	A	234	18	OR5K3	2	2
GPR15	2838	broad.mit.edu	37	3	98251619	98251619	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98251619G>A	uc011bgy.1	+	c.742G>A	c.(742-744)GCA>ACA	p.A248T		NM_005290	NP_005281	P49685	GPR15_HUMAN	G protein-coupled receptor 15	248	Helical; Name=6; (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)										0.210526	28.072775	32.488388	12	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98251619	98251619	6930	3	G	A	A	A	546	42	GPR15	2	2
MTTP	4547	broad.mit.edu	37	4	100503247	100503247	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100503247A>G	uc011cej.1	+	c.328A>G	c.(328-330)ACG>GCG	p.T110A	MTTP_uc003hvc.3_Missense_Mutation_p.T83A|MTTP_uc003hvb.2_Missense_Mutation_p.T83A	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	83	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)									0.113636	7.248597	13.72221	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100503247	100503247	10357	4	A	G	G	G	26	2	MTTP	4	4
EGF	1950	broad.mit.edu	37	4	110909824	110909824	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:110909824G>C	uc003hzy.3	+	c.2693G>C	c.(2692-2694)CGG>CCG	p.R898P	EGF_uc011cfu.1_Missense_Mutation_p.R856P|EGF_uc011cfv.1_Missense_Mutation_p.R898P|EGF_uc010imk.2_Intron	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	898	EGF-like 7; calcium-binding (Potential).|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			central_nervous_system(1)	1		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)					724				0.185185	18.5186	23.551899	10	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110909824	110909824	5151	4	G	C	C	C	507	39	EGF	3	3
ELOVL6	79071	broad.mit.edu	37	4	110972668	110972668	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:110972668C>A	uc003hzz.2	-	c.624G>T	c.(622-624)ATG>ATT	p.M208I	ELOVL6_uc003iaa.2_Missense_Mutation_p.M208I	NM_001130721	NP_001124193	Q9H5J4	ELOV6_HUMAN	elongation of very long chain fatty acids-like	208	Helical; (Potential).				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;0.00462)										0.170732	15.300433	19.503107	7	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110972668	110972668	5270	4	C	A	A	A	273	21	ELOVL6	2	2
ALPK1	80216	broad.mit.edu	37	4	113351864	113351864	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113351864G>T	uc003iap.3	+	c.1161G>T	c.(1159-1161)GGG>GGT	p.G387G	ALPK1_uc003ian.3_Silent_p.G387G|ALPK1_uc011cfx.1_Silent_p.G309G|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Silent_p.G215G	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	387					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)						252				0.222222	11.426008	13.355904	6	21	KEEP	---	---	---	---	capture		Silent	SNP	113351864	113351864	547	4	G	T	T	T	522	41	ALPK1	2	2
ANK2	287	broad.mit.edu	37	4	114276332	114276332	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114276332G>T	uc003ibe.3	+	c.6558G>T	c.(6556-6558)GAG>GAT	p.E2186D	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.E2201D	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2153					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.166667	17.397527	22.431589	8	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114276332	114276332	624	4	G	T	T	T	464	36	ANK2	2	2
TRPC3	7222	broad.mit.edu	37	4	122833087	122833087	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122833087C>A	uc003ieg.2	-	c.1503G>T	c.(1501-1503)AGG>AGT	p.R501S	TRPC3_uc010inr.2_Missense_Mutation_p.R373S|TRPC3_uc003ief.2_Missense_Mutation_p.R428S|TRPC3_uc011cgl.1_Missense_Mutation_p.R165S	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	416	Cytoplasmic (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2														0.098361	4.302951	14.149793	6	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122833087	122833087	17130	4	C	A	A	A	285	22	TRPC3	2	2
FAT4	79633	broad.mit.edu	37	4	126242248	126242248	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126242248G>A	uc003ifj.3	+	c.4682G>A	c.(4681-4683)GGA>GAA	p.G1561E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1561	Cadherin 15.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.090909	3.486544	22.03226	10	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126242248	126242248	5928	4	G	A	A	A	533	41	FAT4	2	2
FAT4	79633	broad.mit.edu	37	4	126355443	126355443	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126355443A>T	uc003ifj.3	+	c.7062A>T	c.(7060-7062)GTA>GTT	p.V2354V	FAT4_uc011cgp.1_Silent_p.V652V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2354	Extracellular (Potential).|Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.092784	4.202968	20.388002	9	88	KEEP	---	---	---	---	capture		Silent	SNP	126355443	126355443	5928	4	A	T	T	T	184	15	FAT4	3	3
PCDH10	57575	broad.mit.edu	37	4	134073228	134073228	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:134073228C>G	uc003iha.2	+	c.1933C>G	c.(1933-1935)CCG>GCG	p.P645A	PCDH10_uc003igz.2_Missense_Mutation_p.P645A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	645	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(193;0.227)										0.111111	4.842461	11.572614	5	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134073228	134073228	11927	4	C	G	G	G	286	22	PCDH10	3	3
PCDH18	54510	broad.mit.edu	37	4	138451556	138451556	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:138451556C>G	uc003ihe.3	-	c.1687G>C	c.(1687-1689)GTG>CTG	p.V563L	PCDH18_uc003ihf.3_Missense_Mutation_p.V556L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.V343L|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	563	Extracellular (Potential).|Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)	3	all_hematologic(180;0.24)													0.166667	47.541825	62.09828	23	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138451556	138451556	11933	4	C	G	G	G	221	17	PCDH18	3	3
POU4F2	5458	broad.mit.edu	37	4	147561855	147561855	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:147561855C>G	uc003ikv.2	+	c.1125C>G	c.(1123-1125)ATC>ATG	p.I375M		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	375	Homeobox.				negative regulation of transcription from RNA polymerase II promoter	nuclear speck	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			breast(1)	1	all_hematologic(180;0.151)													0.065574	-2.127782	9.707684	4	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147561855	147561855	12709	4	C	G	G	G	395	31	POU4F2	3	3
GRIA2	2891	broad.mit.edu	37	4	158224837	158224837	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:158224837A>T	uc003ipm.3	+	c.363A>T	c.(361-363)ACA>ACT	p.T121T	GRIA2_uc011cit.1_Silent_p.T74T|GRIA2_uc003ipl.3_Silent_p.T121T|GRIA2_uc003ipk.3_Silent_p.T74T|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	121	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)									0.054795	-6.949865	8.281319	4	69	KEEP	---	---	---	---	capture		Silent	SNP	158224837	158224837	7046	4	A	T	T	T	67	6	GRIA2	3	3
SPOCK3	50859	broad.mit.edu	37	4	167663171	167663171	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:167663171C>A	uc011cjq.1	-	c.1007G>T	c.(1006-1008)CGG>CTG	p.R336L	SPOCK3_uc011cjp.1_Missense_Mutation_p.R284L|SPOCK3_uc011cjr.1_Missense_Mutation_p.R207L|SPOCK3_uc003iri.1_Missense_Mutation_p.R327L|SPOCK3_uc003irj.1_Missense_Mutation_p.R324L|SPOCK3_uc011cjs.1_Missense_Mutation_p.R276L|SPOCK3_uc011cjt.1_Missense_Mutation_p.R235L|SPOCK3_uc011cju.1_Missense_Mutation_p.R220L|SPOCK3_uc011cjv.1_Missense_Mutation_p.R229L	NM_001040159	NP_001035249	Q9BQ16	TICN3_HUMAN	testican 3 isoform 1	327	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)										0.359375	68.263949	69.394899	23	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167663171	167663171	15594	4	C	A	A	A	299	23	SPOCK3	1	1
PALLD	23022	broad.mit.edu	37	4	169611826	169611826	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169611826C>T	uc011cjx.1	+	c.1408C>T	c.(1408-1410)CTG>TTG	p.L470L	PALLD_uc003iru.2_Silent_p.L470L|PALLD_uc003irv.2_Silent_p.L88L	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	470	Ig-like C2-type 2.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		Esophageal Squamous(109;1482 1532 18347 40239 51172)								0.11236	10.592562	23.800469	10	79	KEEP	---	---	---	---	capture		Silent	SNP	169611826	169611826	11823	4	C	T	T	T	415	32	PALLD	2	2
FAT1	2195	broad.mit.edu	37	4	187629033	187629033	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187629033C>A	uc003izf.2	-	c.1949G>T	c.(1948-1950)GGA>GTA	p.G650V	FAT1_uc010iso.1_Missense_Mutation_p.G650V	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	650	Extracellular (Potential).|Cadherin 5.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						Colon(197;1040 2055 4143 4984 49344)								0.056338	-6.851058	7.831387	4	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187629033	187629033	5925	4	C	A	A	A	390	30	FAT1	2	2
TRIML1	339976	broad.mit.edu	37	4	189060757	189060757	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189060757C>A	uc003izm.1	+	c.45C>A	c.(43-45)ACC>ACA	p.T15T		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	15					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)								0.07438	-4.214479	18.405234	9	112	KEEP	---	---	---	---	capture		Silent	SNP	189060757	189060757	17100	4	C	A	A	A	301	24	TRIML1	2	2
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189068316C>A	uc003izm.1	+	c.1197C>A	c.(1195-1197)CAC>CAA	p.H399Q	TRIML1_uc003izn.1_Missense_Mutation_p.H123Q	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	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)								0.111111	9.715513	20.42152	8	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189068316	189068316	17100	4	C	A	A	A	246	19	TRIML1	1	1
HAUS3	79441	broad.mit.edu	37	4	2238063	2238063	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:2238063T>A	uc003ges.1	-	c.1470A>T	c.(1468-1470)GCA>GCT	p.A490A	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Intron|HAUS3_uc003get.1_Silent_p.A490A	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	490	Potential.				cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|microtubule|microtubule organizing center|spindle				large_intestine(2)|breast(2)	4														0.107143	6.922862	15.485473	6	50	KEEP	---	---	---	---	capture		Silent	SNP	2238063	2238063	7249	4	T	A	A	A	704	55	HAUS3	3	3
APBB2	323	broad.mit.edu	37	4	40895341	40895341	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:40895341T>C	uc003gvn.2	-	c.1342A>G	c.(1342-1344)ATC>GTC	p.I448V	APBB2_uc010ifu.2_Missense_Mutation_p.I19V|APBB2_uc003gvm.2_Missense_Mutation_p.I426V|APBB2_uc003gvl.2_Missense_Mutation_p.I447V|APBB2_uc011byt.1_Missense_Mutation_p.I409V	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	447	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						Ovarian(3;20 75 16686 49997)								0.082645	0.563955	22.002324	10	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40895341	40895341	771	4	T	C	C	C	663	51	APBB2	4	4
GABRG1	2565	broad.mit.edu	37	4	46099313	46099313	+	Nonsense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46099313C>T	uc003gxb.2	-	c.158G>A	c.(157-159)TGG>TAG	p.W53*		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	53	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)										0.053571	-9.915099	13.608223	6	106	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	46099313	46099313	6422	4	C	T	T	T	273	21	GABRG1	5	2
GABRB1	2560	broad.mit.edu	37	4	47427945	47427945	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47427945T>A	uc003gxh.2	+	c.1335T>A	c.(1333-1335)GAT>GAA	p.D445E	GABRB1_uc011bze.1_Missense_Mutation_p.D375E	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	445	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)									0.221154	51.466003	58.932991	23	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47427945	47427945	6417	4	T	A	A	A	660	51	GABRB1	3	3
PDGFRA	5156	broad.mit.edu	37	4	55152085	55152085	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55152085G>T	uc003han.3	+	c.2517G>T	c.(2515-2517)CTG>CTT	p.L839L	PDGFRA_uc003haa.2_Silent_p.L599L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	839	Protein kinase.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(532)|small_intestine(40)|stomach(16)|central_nervous_system(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(3)|skin(2)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|bone(1)	625	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	Pancreas(151;208 1913 7310 23853 37092)				1045	TSP Lung(21;0.16)			0.076923	-1.523255	17.480572	8	96	KEEP	---	---	---	---	capture		Silent	SNP	55152085	55152085	12082	4	G	T	T	T	600	47	PDGFRA	2	2
KDR	3791	broad.mit.edu	37	4	55981471	55981471	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55981471T>C	uc003has.2	-	c.466A>G	c.(466-468)AAT>GAT	p.N156D	KDR_uc003hat.1_Missense_Mutation_p.N156D|KDR_uc011bzx.1_Missense_Mutation_p.N156D	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	156	Ig-like C2-type 2.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|protein phosphorylation|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(9)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|ovary(2)|kidney(1)	22	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)					1022	TSP Lung(20;0.16)			0.09375	2.59978	7.908564	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55981471	55981471	8445	4	T	C	C	C	832	64	KDR	4	4
CEP135	9662	broad.mit.edu	37	4	56837457	56837457	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:56837457G>C	uc003hbi.2	+	c.1132G>C	c.(1132-1134)GAA>CAA	p.E378Q	CEP135_uc003hbj.2_Missense_Mutation_p.E84Q	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	378	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4	Glioma(25;0.08)|all_neural(26;0.101)													0.216216	21.180602	23.931853	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56837457	56837457	3380	4	G	C	C	C	429	33	CEP135	3	3
KIAA1211	57482	broad.mit.edu	37	4	57181776	57181776	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57181776G>A	uc003hbk.2	+	c.2108G>A	c.(2107-2109)TGT>TAT	p.C703Y	KIAA1211_uc010iha.2_Missense_Mutation_p.C696Y|KIAA1211_uc011bzz.1_Missense_Mutation_p.C613Y|KIAA1211_uc003hbm.1_Missense_Mutation_p.C589Y	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	703										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)													0.114754	6.522903	15.410096	7	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57181776	57181776	8523	4	G	A	A	A	624	48	KIAA1211	2	2
CRMP1	1400	broad.mit.edu	37	4	5844865	5844865	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5844865C>T	uc003gis.2	-	c.987G>A	c.(985-987)ATG>ATA	p.M329I	CRMP1_uc003gin.1_Missense_Mutation_p.M127I|CRMP1_uc003gip.2_Missense_Mutation_p.M215I|CRMP1_uc003giq.2_Missense_Mutation_p.M215I|CRMP1_uc003gir.2_Missense_Mutation_p.M210I	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 1	215					axon guidance|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(1)	1				Colorectal(103;0.0721)										0.105263	5.355706	17.125818	8	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5844865	5844865	4029	4	C	T	T	T	273	21	CRMP1	2	2
TECRL	253017	broad.mit.edu	37	4	65188442	65188442	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:65188442C>A	uc003hcv.2	-	c.400G>T	c.(400-402)GCT>TCT	p.A134S	TECRL_uc003hcw.2_Missense_Mutation_p.A134S	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	134					lipid metabolic process|oxidation-reduction process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0														0.081081	0.598064	7.211447	3	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65188442	65188442	16273	4	C	A	A	A	325	25	TECRL	2	2
SHROOM3	57619	broad.mit.edu	37	4	77660267	77660267	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77660267G>T	uc011cbx.1	+	c.941G>T	c.(940-942)CGG>CTG	p.R314L	SHROOM3_uc011cbz.1_Missense_Mutation_p.R138L|SHROOM3_uc003hkf.1_Missense_Mutation_p.R189L|SHROOM3_uc003hkg.2_Missense_Mutation_p.R92L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	314					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			ovary(1)	1			Lung(101;0.0903)											0.155172	16.744843	23.334157	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77660267	77660267	14790	4	G	T	T	T	507	39	SHROOM3	1	1
FRAS1	80144	broad.mit.edu	37	4	79460460	79460460	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79460460C>T	uc003hlb.2	+	c.11311C>T	c.(11311-11313)CCA>TCA	p.P3771S		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3766	Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.088235	1.829919	13.367251	6	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79460460	79460460	6288	4	C	T	T	T	338	26	FRAS1	2	2
ZNF595	152687	broad.mit.edu	37	4	85778	85778	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:85778G>T	uc003fzv.1	+	c.383G>T	c.(382-384)GGA>GTA	p.G128V	ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_5'UTR	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN	zinc finger protein 595	128					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)										0.25	16.911935	18.502557	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85778	85778	18620	4	G	T	T	T	533	41	ZNF595	2	2
GPR78	27201	broad.mit.edu	37	4	8589020	8589020	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:8589020C>T	uc003glk.2	+	c.1022C>T	c.(1021-1023)CCG>CTG	p.P341L	CPZ_uc003gll.2_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	341	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6														0.071429	-0.774945	7.142364	3	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8589020	8589020	6985	4	C	T	T	T	299	23	GPR78	1	1
MEPE	56955	broad.mit.edu	37	4	88766351	88766351	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88766351G>T	uc003hqy.2	+	c.331G>T	c.(331-333)GGC>TGC	p.G111C	MEPE_uc010ikn.2_5'UTR	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	111					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)										0.125	7.174809	12.646335	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88766351	88766351	9867	4	G	T	T	T	611	47	MEPE	2	2
MMRN1	22915	broad.mit.edu	37	4	90857932	90857932	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:90857932A>G	uc003hst.2	+	c.3101A>G	c.(3100-3102)GAC>GGC	p.D1034G	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.D776G	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	1034					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)										0.181818	13.129917	16.269273	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90857932	90857932	10061	4	A	G	G	G	130	10	MMRN1	4	4
GRID2	2895	broad.mit.edu	37	4	94411820	94411820	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94411820C>A	uc011cdt.1	+	c.1889C>A	c.(1888-1890)ACC>AAC	p.T630N	GRID2_uc011cdu.1_Missense_Mutation_p.T535N	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	630	Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|large_intestine(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)									0.111111	5.987427	15.402619	7	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94411820	94411820	7050	4	C	A	A	A	234	18	GRID2	2	2
APC	324	broad.mit.edu	37	5	112111325	112111325	+	Splice_Site_SNP	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:112111325G>T	uc010jby.2	+	c.423_splice	c.e5-1	p.R141_splice	APC_uc011cvt.1_Splice_Site_SNP_p.R151_splice|APC_uc003kpz.3_Splice_Site_SNP_p.R141_splice|APC_uc003kpy.3_Splice_Site_SNP_p.R141_splice|APC_uc010jbz.2_Splice_Site_SNP	NM_001127511	NP_001120983			adenomatous polyposis coli						canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of protein catabolic process|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(2)		large_intestine(2012)|stomach(123)|soft_tissue(55)|small_intestine(34)|pancreas(25)|breast(23)|urinary_tract(20)|lung(18)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|upper_aerodigestive_tract(6)|adrenal_gland(6)|NS(5)|bone(5)|skin(4)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2396		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		12		629	TSP Lung(16;0.13)			0.179487	10.802596	14.574636	7	32	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	112111325	112111325	773	5	G	T	T	T	455	35	APC	5	2
AQPEP	206338	broad.mit.edu	37	5	115338596	115338596	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115338596G>T	uc003kro.2	+	c.1885G>T	c.(1885-1887)GAT>TAT	p.D629Y	AQPEP_uc003krp.2_Non-coding_Transcript|AQPEP_uc003krq.2_Non-coding_Transcript|AQPEP_uc003krr.2_Non-coding_Transcript|AQPEP_uc003krs.2_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	629	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0														0.117647	4.876275	9.761897	4	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115338596	115338596	845	5	G	T	T	T	429	33	AQPEP	2	2
SLC6A19	340024	broad.mit.edu	37	5	1213663	1213663	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:1213663G>T	uc003jbw.3	+	c.749G>T	c.(748-750)GGC>GTC	p.G250V		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	250	Extracellular (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)											0.212121	16.108234	18.635317	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1213663	1213663	15179	5	G	T	T	T	546	42	SLC6A19	2	2
ZNF474	133923	broad.mit.edu	37	5	121487812	121487812	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:121487812C>A	uc003ksv.2	+	c.127C>A	c.(127-129)CCA>ACA	p.P43T		NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	43						intracellular	zinc ion binding				0		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)										0.102804	9.387085	26.16842	11	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121487812	121487812	18526	5	C	A	A	A	286	22	ZNF474	2	2
MEGF10	84466	broad.mit.edu	37	5	126667014	126667014	+	Missense_Mutation	SNP	T	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126667014T>G	uc003kuh.3	+	c.14T>G	c.(13-15)TTG>TGG	p.L5W	MEGF10_uc010jdc.1_Missense_Mutation_p.L5W|MEGF10_uc010jdd.1_Missense_Mutation_p.L5W|MEGF10_uc003kui.3_Missense_Mutation_p.L5W	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	5	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)										0.148148	16.063462	22.482134	8	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126667014	126667014	9849	5	T	G	G	G	819	63	MEGF10	4	4
HINT1	3094	broad.mit.edu	37	5	130500840	130500840	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:130500840C>T	uc003kve.3	-	c.59G>A	c.(58-60)GGG>GAG	p.G20E	HINT1_uc011cxd.1_Non-coding_Transcript|HINT1_uc003kvf.3_Non-coding_Transcript	NM_005340	NP_005331	P49773	HINT1_HUMAN	histidine triad nucleotide binding protein 1	20	HIT.				signal transduction	cytoplasm|cytoskeleton|nucleus	hydrolase activity|protein kinase C binding				0		all_cancers(142;0.0452)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Adenosine monophosphate(DB00131)									0.061224	-3.200422	6.634195	3	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130500840	130500840	7396	5	C	T	T	T	286	22	HINT1	2	2
DNAH5	1767	broad.mit.edu	37	5	13824389	13824389	+	Silent	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13824389T>C	uc003jfd.2	-	c.6498A>G	c.(6496-6498)GGA>GGG	p.G2166G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2166					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.08	1.990359	10.959035	4	46	KEEP	---	---	---	---	capture		Silent	SNP	13824389	13824389	4787	5	T	C	C	C	691	54	DNAH5	4	4
DNAH5	1767	broad.mit.edu	37	5	13894882	13894882	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:13894882T>C	uc003jfd.2	-	c.2308A>G	c.(2308-2310)ATT>GTT	p.I770V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	770	Potential.|Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.095652	7.45696	26.304386	11	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13894882	13894882	4787	5	T	C	C	C	663	51	DNAH5	4	4
NRG2	9542	broad.mit.edu	37	5	139231259	139231259	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:139231259G>T	uc003lev.1	-	c.1726C>A	c.(1726-1728)CGG>AGG	p.R576R	NRG2_uc003lew.1_Silent_p.R570R|NRG2_uc003lex.1_Silent_p.R568R|NRG2_uc003ley.1_Silent_p.R562R	NM_013982	NP_053585	O14511	NRG2_HUMAN	neuregulin 2 isoform 3	568	Cytoplasmic (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.215686	26.078593	29.825779	11	40	KEEP	---	---	---	---	capture		Silent	SNP	139231259	139231259	11053	5	G	T	T	T	493	38	NRG2	1	1
PCDHA6	56142	broad.mit.edu	37	5	140209049	140209049	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140209049C>A	uc003lho.2	+	c.1373C>A	c.(1372-1374)CCC>CAC	p.P458H	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_Missense_Mutation_p.P458H|PCDHA6_uc011dab.1_Missense_Mutation_p.P458H	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	458	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.181818	19.534908	24.75284	10	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140209049	140209049	11948	5	C	A	A	A	286	22	PCDHA6	2	2
PCDHA9	9752	broad.mit.edu	37	5	140229634	140229634	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140229634C>A	uc003lhu.2	+	c.1554C>A	c.(1552-1554)TAC>TAA	p.Y518*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Nonsense_Mutation_p.Y518*	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	518	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(55;1800 1972 14909)								0.164706	26.721265	35.775721	14	71	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	140229634	140229634	11951	5	C	A	A	A	246	19	PCDHA9	5	1
PCDHA13	56136	broad.mit.edu	37	5	140263618	140263618	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140263618C>T	uc003lif.2	+	c.1765C>T	c.(1765-1767)CAC>TAC	p.H589Y	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_Missense_Mutation_p.H589Y|PCDHA13_uc003lid.2_Missense_Mutation_p.H589Y	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	589	Cadherin 6.|Extracellular (Potential).				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)								0.076923	-1.340631	8.189852	4	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140263618	140263618	11943	5	C	T	T	T	273	21	PCDHA13	2	2
PCDHB3	56132	broad.mit.edu	37	5	140482259	140482259	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140482259G>T	uc003lio.2	+	c.2026G>T	c.(2026-2028)GCG>TCG	p.A676S		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	676	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.072	-7.225715	16.404503	9	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140482259	140482259	11963	5	G	T	T	T	546	42	PCDHB3	2	2
PCDHB4	56131	broad.mit.edu	37	5	140502098	140502098	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140502098C>A	uc003lip.1	+	c.518C>A	c.(517-519)CCC>CAC	p.P173H		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	173	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.153846	6.4825	9.463494	4	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140502098	140502098	11964	5	C	A	A	A	286	22	PCDHB4	2	2
PCDHB8	56128	broad.mit.edu	37	5	140559505	140559505	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140559505G>A	uc011dai.1	+	c.1890G>A	c.(1888-1890)CTG>CTA	p.L630L	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	630	Cadherin 6.|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)											0.15	12.532891	19.58546	9	51	KEEP	---	---	---	---	capture		Silent	SNP	140559505	140559505	11968	5	G	A	A	A	587	46	PCDHB8	2	2
PCDHB11	56125	broad.mit.edu	37	5	140580808	140580808	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140580808C>G	uc003liy.2	+	c.1461C>G	c.(1459-1461)AAC>AAG	p.N487K	PCDHB11_uc011daj.1_Missense_Mutation_p.N122K	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	487	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.114943	11.587773	24.211974	10	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140580808	140580808	11956	5	C	G	G	G	259	20	PCDHB11	3	3
PCDHB11	56125	broad.mit.edu	37	5	140581670	140581670	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140581670C>A	uc003liy.2	+	c.2323C>A	c.(2323-2325)CAG>AAG	p.Q775K	PCDHB11_uc011daj.1_Missense_Mutation_p.Q410K	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	775	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.12963	10.69077	17.897615	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140581670	140581670	11956	5	C	A	A	A	273	21	PCDHB11	2	2
PCDHGA1	56114	broad.mit.edu	37	5	140711649	140711649	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140711649C>T	uc003lji.1	+	c.1398C>T	c.(1396-1398)CCC>CCT	p.P466P	PCDHGA1_uc011dan.1_Silent_p.P466P	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	466	Extracellular (Potential).|Cadherin 5.				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)											0.065789	-2.967816	11.882569	5	71	KEEP	---	---	---	---	capture		Silent	SNP	140711649	140711649	11970	5	C	T	T	T	262	21	PCDHGA1	2	2
PCDHGA4	56111	broad.mit.edu	37	5	140736259	140736260	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140736259_140736260GG>CT	uc003ljq.1	+	c.1492_1493GG>CT	c.(1492-1494)GGT>CTT	p.G498L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.G498L	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	498	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.135922	21.971093	35.338294	14	89	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	140736259	140736260	11976	5	GG	CT	CT	CT	559	43	PCDHGA4	3	3
PCDHGA5	56110	broad.mit.edu	37	5	140744467	140744467	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140744467G>T	uc003lju.1	+	c.570G>T	c.(568-570)AAG>AAT	p.K190N	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_uc011das.1_Missense_Mutation_p.K190N	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	190	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.162162	11.858942	15.848224	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140744467	140744467	11977	5	G	T	T	T	464	36	PCDHGA5	2	2
PCDHGA8	9708	broad.mit.edu	37	5	140774114	140774114	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140774114G>T	uc003lkd.1	+	c.1734G>T	c.(1732-1734)GCG>GCT	p.A578A	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.A578A	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	578	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)											0.175258	35.879928	45.477705	17	80	KEEP	---	---	---	---	capture		Silent	SNP	140774114	140774114	11980	5	G	T	T	T	483	38	PCDHGA8	1	1
FBXO38	81545	broad.mit.edu	37	5	147806775	147806775	+	Splice_Site_SNP	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:147806775G>C	uc003lpf.1	+	c.1919_splice	c.e15-1	p.V640_splice	FBXO38_uc003lpg.1_Splice_Site_SNP_p.V640_splice|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308			F-box protein 38 isoform b							cytoplasm|nucleus				ovary(4)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.142857	5.314476	8.757629	4	24	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	147806775	147806775	5983	5	G	C	C	C	468	36	FBXO38	5	3
HAVCR1	26762	broad.mit.edu	37	5	156479626	156479626	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156479626G>A	uc010jij.1	-	c.419C>T	c.(418-420)ACC>ATC	p.T140I	HAVCR1_uc011ddl.1_5'UTR|HAVCR1_uc003lwi.2_Missense_Mutation_p.T140I|HAVCR1_uc011ddm.1_Missense_Mutation_p.T140I	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	140	Extracellular (Potential).|11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.|1.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.057471	-13.84282	21.862862	10	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156479626	156479626	7255	5	G	A	A	A	572	44	HAVCR1	2	2
ITK	3702	broad.mit.edu	37	5	156608057	156608057	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156608057C>T	uc003lwo.1	+	c.69C>T	c.(67-69)CCC>CCT	p.P23P		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	23	PH.		P -> L (in a metastatic melanoma sample; somatic mutation).		cellular defense response|intracellular signal transduction|protein phosphorylation|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(8)|lung(4)|skin(3)|stomach(1)|central_nervous_system(1)	17	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			Esophageal Squamous(70;1378 1469 8785 19883)			p.P23P(OVISE-Tumor)	330				0.073394	0.25405	20.605361	8	101	KEEP	---	---	---	---	capture		Silent	SNP	156608057	156608057	8213	5	C	T	T	T	301	24	ITK	2	2
ADAM19	8728	broad.mit.edu	37	5	156915444	156915444	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156915444G>T	uc003lwz.2	-	c.2379C>A	c.(2377-2379)CCC>CCA	p.P793P	ADAM19_uc003lww.1_Silent_p.P526P|ADAM19_uc003lwy.2_Silent_p.P392P|ADAM19_uc011ddr.1_Silent_p.P724P	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	793	Cytoplasmic (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.157895	10.725652	14.966614	6	32	KEEP	---	---	---	---	capture		Silent	SNP	156915444	156915444	241	5	G	T	T	T	548	43	ADAM19	2	2
ADAM19	8728	broad.mit.edu	37	5	156997941	156997941	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156997941G>A	uc003lwz.2	-	c.142C>T	c.(142-144)CCT>TCT	p.P48S	ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_5'UTR	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	48					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.155556	13.295217	18.394417	7	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156997941	156997941	241	5	G	A	A	A	572	44	ADAM19	2	2
GABRA1	2554	broad.mit.edu	37	5	161324315	161324315	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:161324315G>T	uc010jiw.2	+	c.1258G>T	c.(1258-1260)GAC>TAC	p.D420Y	GABRA1_uc010jix.2_Missense_Mutation_p.D420Y|GABRA1_uc010jiy.2_Missense_Mutation_p.D420Y|GABRA1_uc003lyx.3_Missense_Mutation_p.D420Y|GABRA1_uc010jiz.2_Missense_Mutation_p.D420Y|GABRA1_uc010jja.2_Missense_Mutation_p.D420Y|GABRA1_uc010jjb.2_Missense_Mutation_p.D420Y	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	420	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)									0.071429	-5.64242	10.316041	6	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161324315	161324315	6411	5	G	T	T	T	585	45	GABRA1	2	2
PLEKHG4B	153478	broad.mit.edu	37	5	163417	163417	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:163417A>G	uc003jak.2	+	c.2162A>G	c.(2161-2163)AAG>AGG	p.K721R		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	721					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)										0.127451	19.866067	33.772743	13	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163417	163417	12498	5	A	G	G	G	39	3	PLEKHG4B	4	4
ZNF622	90441	broad.mit.edu	37	5	16458721	16458721	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:16458721T>A	uc003jfq.2	-	c.1067A>T	c.(1066-1068)CAC>CTC	p.H356L		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	356						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1														0.065217	-1.301984	7.717048	3	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16458721	16458721	18641	5	T	A	A	A	767	59	ZNF622	3	3
SLIT3	6586	broad.mit.edu	37	5	168114017	168114017	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168114017T>A	uc010jjg.2	-	c.3302A>T	c.(3301-3303)AAT>ATT	p.N1101I	SLIT3_uc003mab.2_Missense_Mutation_p.N1094I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1094	EGF-like 5.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.209302	17.978439	21.326946	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168114017	168114017	15239	5	T	A	A	A	676	52	SLIT3	3	3
SLIT3	6586	broad.mit.edu	37	5	168135007	168135007	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:168135007G>A	uc010jjg.2	-	c.2839C>T	c.(2839-2841)CGC>TGC	p.R947C	SLIT3_uc003mab.2_Missense_Mutation_p.R940C	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	940	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			Ovarian(29;311 847 10864 17279 24903)								0.16129	10.767544	14.140857	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168135007	168135007	15239	5	G	A	A	A	507	39	SLIT3	1	1
DOCK2	1794	broad.mit.edu	37	5	169116287	169116287	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169116287G>T	uc003maf.2	+	c.793G>T	c.(793-795)GGC>TGC	p.G265C	DOCK2_uc011der.1_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	265					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											0.101695	3.60439	12.954084	6	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169116287	169116287	4871	5	G	T	T	T	559	43	DOCK2	2	2
BASP1	10409	broad.mit.edu	37	5	17275906	17275906	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:17275906G>T	uc003jfx.2	+	c.581G>T	c.(580-582)AGT>ATT	p.S194I		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	194					glomerular visceral epithelial cell differentiation|negative regulation of gene-specific transcription	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	promoter binding|protein domain specific binding|specific transcriptional repressor activity|transcription corepressor activity				0														0.214286	14.335808	16.445582	6	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17275906	17275906	1338	5	G	T	T	T	468	36	BASP1	2	2
C5orf25	375484	broad.mit.edu	37	5	175763870	175763870	+	Silent	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:175763870C>G	uc003mds.3	+	c.2262C>G	c.(2260-2262)CTC>CTG	p.L754L	C5orf25_uc003mdt.3_Silent_p.L339L|C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdv.2_Silent_p.L215L	C5orf25		Q8NDZ2	CE025_HUMAN	RecName: Full=Uncharacterized protein C5orf25;	754											0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)										0.24	16.037059	17.579841	6	19	KEEP	---	---	---	---	capture		Silent	SNP	175763870	175763870	2386	5	C	G	G	G	366	29	C5orf25	3	3
GPRIN1	114787	broad.mit.edu	37	5	176026677	176026677	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176026677G>T	uc003meo.1	-	c.159C>A	c.(157-159)AGC>AGA	p.S53R		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	53						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.044944	-12.464104	7.231302	4	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176026677	176026677	7005	5	G	T	T	T	542	42	GPRIN1	2	2
HK3	3101	broad.mit.edu	37	5	176314464	176314464	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176314464G>T	uc003mfa.2	-	c.1588C>A	c.(1588-1590)CCT>ACT	p.P530T	HK3_uc003mez.2_Missense_Mutation_p.P86T	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	530	Catalytic.			PD -> LT (in Ref. 4; AAC50422).	glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|breast(1)	5	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.135135	5.845057	10.633368	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176314464	176314464	7483	5	G	T	T	T	559	43	HK3	2	2
ZNF346	23567	broad.mit.edu	37	5	176489059	176489059	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176489059C>T	uc003mfk.1	+	c.779C>T	c.(778-780)GCT>GTT	p.A260V	ZNF346_uc003mfi.2_Missense_Mutation_p.A235V|ZNF346_uc011dfr.1_Missense_Mutation_p.A203V|ZNF346_uc011dfs.1_Missense_Mutation_p.A137V|ZNF346_uc003mfj.2_Missense_Mutation_p.A59V|ZNF346_uc011dft.1_Missense_Mutation_p.A59V	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	zinc finger protein 346	235						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding				0	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.047619	-11.70357	11.066205	5	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176489059	176489059	18452	5	C	T	T	T	364	28	ZNF346	2	2
DDX41	51428	broad.mit.edu	37	5	176940389	176940389	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176940389C>A	uc003mho.2	-	c.1195G>T	c.(1195-1197)GGG>TGG	p.G399W	DOK3_uc003mhi.3_5'Flank|DOK3_uc003mhj.3_5'Flank|DDX41_uc003mhm.2_Missense_Mutation_p.G179W|DDX41_uc003mhn.2_Missense_Mutation_p.G268W|DDX41_uc003mhp.2_Missense_Mutation_p.G268W|DDX41_uc003mhq.1_Missense_Mutation_p.G179W	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	399					apoptosis|multicellular organismal development|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)											0.169231	43.970536	57.433171	22	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176940389	176940389	4532	5	C	A	A	A	286	22	DDX41	2	2
ZNF354C	30832	broad.mit.edu	37	5	178505705	178505705	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178505705C>G	uc003mju.2	+	c.272C>G	c.(271-273)ACA>AGA	p.T91R		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	91					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)										0.097561	4.380655	11.018381	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178505705	178505705	18458	5	C	G	G	G	221	17	ZNF354C	3	3
CDH12	1010	broad.mit.edu	37	5	21752217	21752217	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21752217C>G	uc010iuc.2	-	c.2014G>C	c.(2014-2016)GCT>CCT	p.A672P	CDH12_uc011cno.1_Missense_Mutation_p.A632P|CDH12_uc003jgk.2_Missense_Mutation_p.A672P	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	672	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.060241	-6.052158	10.699984	5	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21752217	21752217	3227	5	C	G	G	G	338	26	CDH12	3	3
PRDM9	56979	broad.mit.edu	37	5	23509603	23509603	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23509603T>A	uc003jgo.2	+	c.94T>A	c.(94-96)TCC>ACC	p.S32T		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	32	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.211268	58.09883	69.144566	30	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23509603	23509603	12906	5	T	A	A	A	806	62	PRDM9	3	3
SDHA	6389	broad.mit.edu	37	5	240507	240507	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:240507G>T	uc011clv.1	+	c.1467G>T	c.(1465-1467)GGG>GGT	p.G489G	SDHA_uc003jao.3_Silent_p.G489G|SDHA_uc011clw.1_Silent_p.G441G|SDHA_uc003jap.3_Silent_p.G489G|SDHA_uc003jaq.3_Silent_p.G264G|SDHA_uc003jar.3_Silent_p.G83G	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	489					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)									0.210526	14.654094	17.633459	8	30	KEEP	---	---	---	---	capture		Silent	SNP	240507	240507	14448	5	G	T	T	T	548	43	SDHA	2	2
CDH10	1008	broad.mit.edu	37	5	24487989	24487989	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24487989C>A	uc003jgr.1	-	c.2150G>T	c.(2149-2151)AGG>ATG	p.R717M	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	717	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.132075	9.988282	16.958719	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24487989	24487989	3225	5	C	A	A	A	312	24	CDH10	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33527362	33527362	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33527362G>C	uc003jia.1	-	c.4716C>G	c.(4714-4716)CCC>CCG	p.P1572P	ADAMTS12_uc010iuq.1_Silent_p.P1487P	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1572	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.183333	40.569813	51.881007	22	98	KEEP	---	---	---	---	capture		Silent	SNP	33527362	33527362	258	5	G	C	C	C	548	43	ADAMTS12	3	3
SLC45A2	51151	broad.mit.edu	37	5	33984644	33984644	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33984644G>T	uc003jid.2	-	c.45C>A	c.(43-45)TCC>TCA	p.S15S	SLC45A2_uc003jie.2_Silent_p.S15S|SLC45A2_uc003jif.3_Silent_p.S15S|SLC45A2_uc011coe.1_Silent_p.S15S	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	15	Cytoplasmic (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)	2						Ovarian(31;380 859 8490 22203 49048)								0.142857	9.085018	14.196107	6	36	KEEP	---	---	---	---	capture		Silent	SNP	33984644	33984644	15138	5	G	T	T	T	548	43	SLC45A2	2	2
RAD1	5810	broad.mit.edu	37	5	34909397	34909397	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:34909397C>T	uc003jix.2	-	c.631G>A	c.(631-633)GAA>AAA	p.E211K	RAD1_uc003jiw.2_Missense_Mutation_p.E102K|RAD1_uc003jiy.2_Missense_Mutation_p.E211K	NM_002853	NP_002844	O60671	RAD1_HUMAN	RAD1 homolog	211					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding				0	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)											0.092593	2.535477	11.555072	5	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34909397	34909397	13437	5	C	T	T	T	390	30	RAD1	2	2
AGXT2	64902	broad.mit.edu	37	5	35014095	35014095	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35014095G>T	uc003jjf.2	-	c.1093C>A	c.(1093-1095)CCA>ACA	p.P365T	AGXT2_uc003jje.1_Missense_Mutation_p.P18T|AGXT2_uc011com.1_Intron	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	365					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)	3	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)									0.041667	-14.982645	6.706958	4	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35014095	35014095	408	5	G	T	T	T	533	41	AGXT2	2	2
SPEF2	79925	broad.mit.edu	37	5	35644577	35644577	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:35644577G>T	uc003jjo.2	+	c.535G>T	c.(535-537)GAA>TAA	p.E179*	SPEF2_uc003jjn.1_Nonsense_Mutation_p.E179*|SPEF2_uc003jjq.3_Nonsense_Mutation_p.E179*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	179					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)											0.142857	5.310972	7.891891	3	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	35644577	35644577	15547	5	G	T	T	T	585	45	SPEF2	5	2
UGT3A2	167127	broad.mit.edu	37	5	36037999	36037999	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36037999C>A	uc003jjz.1	-	c.1195G>T	c.(1195-1197)GTC>TTC	p.V399F	UGT3A2_uc011cos.1_Missense_Mutation_p.V365F|UGT3A2_uc011cot.1_Missense_Mutation_p.V97F	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	399	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|large_intestine(1)|pancreas(1)	4	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)											0.122449	15.631837	29.308476	12	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36037999	36037999	17522	5	C	A	A	A	234	18	UGT3A2	2	2
SLC1A3	6507	broad.mit.edu	37	5	36608588	36608588	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36608588A>T	uc003jkj.3	+	c.63A>T	c.(61-63)GGA>GGT	p.G21G	SLC1A3_uc011cox.1_5'UTR|SLC1A3_uc010iuy.2_Silent_p.G21G	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	21	Cytoplasmic (Potential).				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)									0.204819	33.05452	39.753566	17	66	KEEP	---	---	---	---	capture		Silent	SNP	36608588	36608588	14929	5	A	T	T	T	132	11	SLC1A3	3	3
FYB	2533	broad.mit.edu	37	5	39203004	39203004	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39203004G>T	uc011cpl.1	-	c.89C>A	c.(88-90)CCC>CAC	p.P30H	FYB_uc003jls.2_Missense_Mutation_p.P20H|FYB_uc003jlt.2_Missense_Mutation_p.P20H|FYB_uc003jlu.2_Missense_Mutation_p.P20H	NM_001465	NP_001456	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 1	20					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)											0.166667	18.284482	25.241454	11	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39203004	39203004	6375	5	G	T	T	T	559	43	FYB	2	2
AHRR	57491	broad.mit.edu	37	5	434078	434078	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:434078G>T	uc003jav.2	+	c.1289G>T	c.(1288-1290)AGT>ATT	p.S430I	AHRR_uc003jaw.2_Missense_Mutation_p.S408I|AHRR_uc010isy.2_Missense_Mutation_p.S258I|AHRR_uc010isz.2_Missense_Mutation_p.S408I|AHRR_uc003jax.2_Missense_Mutation_p.S171I|AHRR_uc003jay.2_Missense_Mutation_p.S268I|AHRR_uc003jaz.2_Missense_Mutation_p.S29I	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity|transcription regulator activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)											0.081081	0.509599	7.1125	3	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	434078	434078	420	5	G	T	T	T	468	36	AHRR	2	2
ADAMTS16	170690	broad.mit.edu	37	5	5319161	5319161	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5319161C>A	uc003jdl.2	+	c.3585C>A	c.(3583-3585)CAC>CAA	p.H1195Q		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1195	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.2	10.614718	12.269092	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5319161	5319161	262	5	C	A	A	A	259	20	ADAMTS16	2	2
SLC38A9	153129	broad.mit.edu	37	5	54960597	54960597	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54960597C>A	uc003jqf.2	-	c.621G>T	c.(619-621)GTG>GTT	p.V207V	SLC38A9_uc003jqd.2_Silent_p.V144V|SLC38A9_uc010ivx.2_Silent_p.V180V|SLC38A9_uc003jqe.2_Non-coding_Transcript|SLC38A9_uc010ivy.2_Silent_p.V78V	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	207	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane					0		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)												0.216216	19.107005	21.83638	8	29	KEEP	---	---	---	---	capture		Silent	SNP	54960597	54960597	15108	5	C	A	A	A	210	17	SLC38A9	2	2
MAST4	375449	broad.mit.edu	37	5	66460666	66460666	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:66460666C>T	uc003jut.1	+	c.5092C>T	c.(5092-5094)CCA>TCA	p.P1698S	MAST4_uc003juw.2_Missense_Mutation_p.P1626S|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1890					protein phosphorylation	cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)						805				0.194444	14.718296	17.843357	7	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66460666	66460666	9711	5	C	T	T	T	234	18	MAST4	2	2
VCAN	1462	broad.mit.edu	37	5	82815784	82815784	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:82815784A>T	uc003kii.3	+	c.1659A>T	c.(1657-1659)GGA>GGT	p.G553G	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.G553G|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	553	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(3)|lung(2)|central_nervous_system(1)	13		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)										0.077778	-1.976836	14.379116	7	83	KEEP	---	---	---	---	capture		Silent	SNP	82815784	82815784	17703	5	A	T	T	T	132	11	VCAN	3	3
ELOVL2	54898	broad.mit.edu	37	6	10989959	10989959	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:10989959G>T	uc003mzp.3	-	c.742C>A	c.(742-744)CTC>ATC	p.L248I		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	248	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)											0.2	18.417948	22.22991	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10989959	10989959	5266	6	G	T	T	T	455	35	ELOVL2	2	2
DDO	8528	broad.mit.edu	37	6	110714247	110714247	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110714247C>A	uc003puc.2	-	c.841G>T	c.(841-843)GAG>TAG	p.E281*	C6orf186_uc003pub.2_Intron|DDO_uc003pud.2_Nonsense_Mutation_p.E222*	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	253					aspartate catabolic process|oxidation-reduction process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)										0.115108	14.3817	34.721517	16	123	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	110714247	110714247	4505	6	C	A	A	A	416	32	DDO	5	2
DCBLD1	285761	broad.mit.edu	37	6	117825053	117825053	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117825053G>T	uc003pxs.2	+	c.236G>T	c.(235-237)AGA>ATA	p.R79I	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Missense_Mutation_p.R79I	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	79	CUB.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)						15				0.216216	34.991234	40.467987	16	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117825053	117825053	4451	6	G	T	T	T	429	33	DCBLD1	2	2
HIVEP1	3096	broad.mit.edu	37	6	12123583	12123583	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:12123583C>T	uc003nac.2	+	c.3555C>T	c.(3553-3555)CAC>CAT	p.H1185H	HIVEP1_uc011diq.1_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	1185					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)												0.230769	13.432871	15.165026	6	20	KEEP	---	---	---	---	capture		Silent	SNP	12123583	12123583	7477	6	C	T	T	T	233	18	HIVEP1	2	2
L3MBTL3	84456	broad.mit.edu	37	6	130372452	130372452	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130372452G>T	uc003qbt.2	+	c.348G>T	c.(346-348)GGG>GGT	p.G116G	L3MBTL3_uc003qbu.2_Silent_p.G91G	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	116					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)										0.1	3.436392	11.43023	5	45	KEEP	---	---	---	---	capture		Silent	SNP	130372452	130372452	8916	6	G	T	T	T	535	42	L3MBTL3	2	2
SAMD3	154075	broad.mit.edu	37	6	130465706	130465706	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130465706C>A	uc003qbv.2	-	c.1522G>T	c.(1522-1524)GAA>TAA	p.E508*	SAMD3_uc003qbx.2_Nonsense_Mutation_p.E508*|SAMD3_uc003qbw.2_Nonsense_Mutation_p.E508*	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	508										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)										0.125	6.747404	12.242569	5	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	130465706	130465706	14300	6	C	A	A	A	416	32	SAMD3	5	2
TAAR6	319100	broad.mit.edu	37	6	132891538	132891538	+	Silent	SNP	C	A	A	rs8192622	byFrequency;by1000genomes	TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132891538C>A	uc011eck.1	+	c.78C>A	c.(76-78)CCC>CCA	p.P26P		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	26	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(2)	2	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)										0.12069	7.78183	15.967499	7	51	KEEP	---	---	---	---	capture		Silent	SNP	132891538	132891538	16013	6	C	A	A	A	301	24	TAAR6	2	2
CITED2	10370	broad.mit.edu	37	6	139695015	139695015	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139695015G>A	uc003qip.1	-	c.67C>T	c.(67-69)CAC>TAC	p.H23Y		NM_006079	NP_006070	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with	23	His-rich.				anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription regulator activity|positive regulation of transforming growth factor beta receptor signaling pathway|response to estrogen stimulus|response to fluid shear stress|response to hypoxia	cytoplasm|nuclear chromatin|nucleus	LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity|transcription repressor activity				0	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		NSCLC(98;1219 1550 33720 43229 49330)								0.141509	43.761288	70.009605	30	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139695015	139695015	3575	6	G	A	A	A	585	45	CITED2	2	2
CITED2	10370	broad.mit.edu	37	6	139695043	139695043	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139695043G>A	uc003qip.1	-	c.39C>T	c.(37-39)TTC>TTT	p.F13F		NM_006079	NP_006070	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with	13					anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription regulator activity|positive regulation of transforming growth factor beta receptor signaling pathway|response to estrogen stimulus|response to fluid shear stress|response to hypoxia	cytoplasm|nuclear chromatin|nucleus	LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription coactivator activity|transcription corepressor activity|transcription repressor activity				0	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		NSCLC(98;1219 1550 33720 43229 49330)								0.139037	40.632228	64.172588	26	161	KEEP	---	---	---	---	capture		Silent	SNP	139695043	139695043	3575	6	G	A	A	A	529	41	CITED2	2	2
SF3B5	83443	broad.mit.edu	37	6	144416503	144416503	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:144416503C>A	uc003qkr.1	-	c.132G>T	c.(130-132)ATG>ATT	p.M44I		NM_031287	NP_112577	Q9BWJ5	SF3B5_HUMAN	SF3b10	44					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex					0				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)										0.084746	0.350225	10.658685	5	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144416503	144416503	14643	6	C	A	A	A	273	21	SF3B5	2	2
FBXO30	84085	broad.mit.edu	37	6	146126130	146126130	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146126130C>G	uc003qla.2	-	c.1412G>C	c.(1411-1413)AGT>ACT	p.S471T		NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	471							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)										0.114286	18.747241	34.125421	12	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146126130	146126130	5977	6	C	G	G	G	260	20	FBXO30	3	3
GRM1	2911	broad.mit.edu	37	6	146720217	146720217	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146720217G>T	uc010khw.1	+	c.2042G>T	c.(2041-2043)CGT>CTT	p.R681L	GRM1_uc010khv.1_Missense_Mutation_p.R681L|GRM1_uc003qll.2_Missense_Mutation_p.R681L|GRM1_uc011edz.1_Missense_Mutation_p.R681L|GRM1_uc011eea.1_Missense_Mutation_p.R681L	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	681	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(4)|central_nervous_system(3)|large_intestine(2)	9		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)									0.190789	66.47359	80.086119	29	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146720217	146720217	7075	6	G	T	T	T	520	40	GRM1	1	1
STXBP5	134957	broad.mit.edu	37	6	147646094	147646094	+	Splice_Site_SNP	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:147646094G>T	uc003qlz.2	+	c.1803_splice	c.e17-1	p.K601_splice	STXBP5_uc010khz.1_Splice_Site_SNP_p.K601_splice|STXBP5_uc003qlx.2_Splice_Site_SNP|STXBP5_uc003qly.2_Splice_Site_SNP_p.K272_splice|STXBP5_uc003qma.2_5'Flank	NM_001127715	NP_001121187			syntaxin binding protein 5 (tomosyn) isoform b						exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)										0.071429	-1.745953	8.853603	4	52	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	147646094	147646094	15876	6	G	T	T	T	429	33	STXBP5	5	2
MTHFD1L	25902	broad.mit.edu	37	6	151247379	151247379	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:151247379G>T	uc011eeo.1	+	c.1207G>T	c.(1207-1209)GTG>TTG	p.V403L	MTHFD1L_uc011een.1_Non-coding_Transcript|MTHFD1L_uc003qob.2_Missense_Mutation_p.V402L|MTHFD1L_uc003qoc.2_Missense_Mutation_p.V350L	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	402	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)										0.072289	-2.849912	12.960463	6	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151247379	151247379	10321	6	G	T	T	T	520	40	MTHFD1L	1	1
SYNE1	23345	broad.mit.edu	37	6	152720814	152720814	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152720814C>A	uc010kiw.2	-	c.7174G>T	c.(7174-7176)GTG>TTG	p.V2392L	SYNE1_uc003qot.3_Missense_Mutation_p.V2399L|SYNE1_uc003qou.3_Missense_Mutation_p.V2392L|SYNE1_uc010kjb.1_Missense_Mutation_p.V2375L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2392	Spectrin 3.|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)										0.169935	52.690302	68.472184	26	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152720814	152720814	15966	6	C	A	A	A	247	19	SYNE1	1	1
NOX3	50508	broad.mit.edu	37	6	155728350	155728350	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:155728350G>T	uc003qqm.2	-	c.1494C>A	c.(1492-1494)GAC>GAA	p.D498E		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	498	Cytoplasmic (Potential).				oxidation-reduction process		electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)										0.15625	9.758496	13.364659	5	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155728350	155728350	10961	6	G	T	T	T	516	40	NOX3	1	1
IGF2R	3482	broad.mit.edu	37	6	160480035	160480035	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160480035G>T	uc003qta.2	+	c.2996G>T	c.(2995-2997)TGG>TTG	p.W999L		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	999	7.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)										0.090909	2.669834	11.915648	5	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160480035	160480035	7877	6	G	T	T	T	611	47	IGF2R	2	2
PDE10A	10846	broad.mit.edu	37	6	165801923	165801923	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:165801923G>T	uc003quo.2	-	c.1676C>A	c.(1675-1677)GCG>GAG	p.A559E	PDE10A_uc011egj.1_Non-coding_Transcript|PDE10A_uc011egk.1_Missense_Mutation_p.A479E|PDE10A_uc003qun.2_Missense_Mutation_p.A549E	NM_001130690	NP_001124162	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 1	549					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)	3		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	Esophageal Squamous(22;308 615 5753 12038 40624)								0.128571	12.031446	21.456764	9	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165801923	165801923	12051	6	G	T	T	T	494	38	PDE10A	1	1
TTLL2	83887	broad.mit.edu	37	6	167753613	167753613	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167753613G>A	uc003qvs.1	+	c.225G>A	c.(223-225)GCG>GCA	p.A75A	TTLL2_uc011egr.1_Non-coding_Transcript	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	75					protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)	2		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)										0.171875	18.355889	24.935309	11	53	KEEP	---	---	---	---	capture		Silent	SNP	167753613	167753613	17282	6	G	A	A	A	496	39	TTLL2	1	1
GMDS	2762	broad.mit.edu	37	6	1742766	1742766	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:1742766C>A	uc003mtq.2	-	c.826G>T	c.(826-828)GGG>TGG	p.G276W		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	276					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion	cytoplasm	coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)										0.162791	13.402499	18.046195	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1742766	1742766	6755	6	C	A	A	A	273	21	GMDS	2	2
KDM1B	221656	broad.mit.edu	37	6	18208362	18208362	+	Splice_Site_SNP	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:18208362G>T	uc003nco.1	+	c.1183_splice	c.e10-1	p.V395_splice	KDM1B_uc003ncn.1_Splice_Site_SNP_p.V366_splice	NM_153042	NP_694587			amine oxidase (flavin containing) domain 1						multicellular organismal development|oxidation-reduction process|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding				0														0.1875	24.760954	30.615176	12	52	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	18208362	18208362	8429	6	G	T	T	T	455	35	KDM1B	5	2
SLC17A3	10786	broad.mit.edu	37	6	25862555	25862555	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25862555G>A	uc003nfk.3	-	c.209C>T	c.(208-210)ACA>ATA	p.T70I	SLC17A3_uc003nfi.3_Missense_Mutation_p.T70I|SLC17A3_uc011djz.1_Missense_Mutation_p.T70I|SLC17A3_uc011dka.1_Missense_Mutation_p.T70I	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	solute carrier family 17 (sodium phosphate),	70					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity				0														0.206897	25.967496	30.585972	12	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25862555	25862555	14914	6	G	A	A	A	624	48	SLC17A3	2	2
BTN1A1	696	broad.mit.edu	37	6	26502093	26502093	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26502093G>T	uc003nif.3	+	c.355G>T	c.(355-357)GAC>TAC	p.D119Y		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	119	Extracellular (Potential).|Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			ovary(1)	1														0.178571	11.165878	13.882416	5	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26502093	26502093	1593	6	G	T	T	T	481	37	BTN1A1	1	1
OR5V1	81696	broad.mit.edu	37	6	29323886	29323886	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29323886G>T	uc011dlo.1	-	c.87C>A	c.(85-87)ACC>ACA	p.T29T		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4						Ovarian(32;43 883 21137 32120 42650)								0.1125	9.513611	21.380024	9	71	KEEP	---	---	---	---	capture		Silent	SNP	29323886	29323886	11594	6	G	T	T	T	600	47	OR5V1	2	2
OR11A1	26531	broad.mit.edu	37	6	29395248	29395248	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29395248G>T	uc003nmg.2	-	c.171C>A	c.(169-171)CTC>CTA	p.L57L		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.232143	30.555249	34.229007	13	43	KEEP	---	---	---	---	capture		Silent	SNP	29395248	29395248	11330	6	G	T	T	T	522	41	OR11A1	2	2
RNF39	80352	broad.mit.edu	37	6	30041008	30041008	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30041008G>A	uc003npe.2	-	c.608C>T	c.(607-609)TCC>TTC	p.S203F	RNF39_uc003npd.2_Missense_Mutation_p.S203F	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	203						cytoplasm	zinc ion binding				0						NSCLC(8;188 360 1520 20207 31481)								0.094595	3.518203	15.692102	7	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30041008	30041008	13970	6	G	A	A	A	533	41	RNF39	2	2
TNXB	7148	broad.mit.edu	37	6	32064730	32064730	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32064730G>T	uc003nzl.2	-	c.900C>A	c.(898-900)GGC>GGA	p.G300G		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	300	EGF-like 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.214286	7.317238	8.372562	3	11	KEEP	---	---	---	---	capture		Silent	SNP	32064730	32064730	16887	6	G	T	T	T	431	34	TNXB	2	2
NOTCH4	4855	broad.mit.edu	37	6	32181560	32181560	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32181560C>G	uc003obb.2	-	c.2225G>C	c.(2224-2226)GGC>GCC	p.G742A	NOTCH4_uc011dpu.1_Non-coding_Transcript|NOTCH4_uc011dpv.1_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	742	EGF-like 19.|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				0.131579	7.570564	12.570904	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32181560	32181560	10954	6	C	G	G	G	338	26	NOTCH4	3	3
NOTCH4	4855	broad.mit.edu	37	6	32188027	32188027	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32188027G>T	uc003obb.2	-	c.1194C>A	c.(1192-1194)AGC>AGA	p.S398R	NOTCH4_uc011dpu.1_Non-coding_Transcript|NOTCH4_uc011dpv.1_Non-coding_Transcript|NOTCH4_uc003obc.2_Missense_Mutation_p.S398R	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	398	EGF-like 10.|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				0.266667	29.995695	32.198823	12	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32188027	32188027	10954	6	G	T	T	T	542	42	NOTCH4	2	2
PSMB9	5698	broad.mit.edu	37	6	32827219	32827219	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32827219G>C	uc003sga.2	+	c.534G>C	c.(532-534)GGG>GGC	p.G178G		NM_148954	NP_683756	P28065	PSB9_HUMAN	proteasome beta 9 subunit isoform 2 proprotein	190					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0														0.188119	78.564151	96.942349	38	164	KEEP	---	---	---	---	capture		Silent	SNP	32827219	32827219	13137	6	G	C	C	C	548	43	PSMB9	3	3
ZBTB22	9278	broad.mit.edu	37	6	33283189	33283189	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:33283189C>G	uc003oeb.2	-	c.1505G>C	c.(1504-1506)CGG>CCG	p.R502P	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.R502P	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	502	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.111111	10.753378	26.876379	12	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33283189	33283189	18116	6	C	G	G	G	299	23	ZBTB22	3	3
DUSP22	56940	broad.mit.edu	37	6	348191	348191	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:348191G>T	uc003msx.2	+	c.352G>T	c.(352-354)GTG>TTG	p.V118L	DUSP22_uc011dhn.1_Missense_Mutation_p.V118L|DUSP22_uc003msy.1_Missense_Mutation_p.V75L	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	118	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)										0.052239	-15.070401	13.529969	7	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	348191	348191	5006	6	G	T	T	T	520	40	DUSP22	1	1
TCP11	6954	broad.mit.edu	37	6	35088395	35088395	+	Silent	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35088395C>T	uc003okd.2	-	c.783G>A	c.(781-783)CTG>CTA	p.L261L	TCP11_uc003ojz.1_Silent_p.L186L|TCP11_uc003oka.2_Silent_p.L186L|TCP11_uc003okb.2_Silent_p.L185L|TCP11_uc003okc.2_Silent_p.L185L|TCP11_uc011dsu.1_Silent_p.L243L|TCP11_uc011dsv.1_Silent_p.L210L|TCP11_uc011dsw.1_Silent_p.L215L	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	248					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)	3														0.214286	13.341949	15.447658	6	22	KEEP	---	---	---	---	capture		Silent	SNP	35088395	35088395	16239	6	C	T	T	T	366	29	TCP11	2	2
TREML1	340205	broad.mit.edu	37	6	41117386	41117386	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41117386C>A	uc011duc.1	-	c.892G>T	c.(892-894)GGG>TGG	p.G298W	TREML1_uc003opx.2_3'UTR|TREML1_uc011dud.1_Missense_Mutation_p.G187W	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid	298	Cytoplasmic (Potential).				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(1)	1	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.075758	-2.905729	9.471776	5	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41117386	41117386	17016	6	C	A	A	A	273	21	TREML1	2	2
CD2AP	23607	broad.mit.edu	37	6	47544814	47544814	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47544814G>C	uc003oyw.2	+	c.878G>C	c.(877-879)GGG>GCG	p.G293A		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	293	SH3 3.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)	1			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)											0.036036	-17.488276	8.436484	4	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47544814	47544814	3122	6	G	C	C	C	559	43	CD2AP	3	3
TFAP2D	83741	broad.mit.edu	37	6	50718983	50718983	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50718983C>A	uc003paf.2	+	c.1085C>A	c.(1084-1086)TCC>TAC	p.S362Y	TFAP2D_uc011dwt.1_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	362	H-S-H (helix-span-helix), dimerization.				regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)													0.206897	13.058769	15.349722	6	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50718983	50718983	16318	6	C	A	A	A	390	30	TFAP2D	2	2
TFAP2B	7021	broad.mit.edu	37	6	50803869	50803869	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50803869G>T	uc003pag.2	+	c.697G>T	c.(697-699)GTC>TTC	p.V233F		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	233					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)								0.203125	31.446224	36.679325	13	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50803869	50803869	16316	6	G	T	T	T	520	40	TFAP2B	1	1
C6orf142	90523	broad.mit.edu	37	6	54095697	54095697	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54095697T>A	uc011dxa.1	+	c.2904T>A	c.(2902-2904)AGT>AGA	p.S968R	C6orf142_uc003pcg.3_Missense_Mutation_p.S433R|C6orf142_uc003pch.3_Intron	NM_138569	NP_612636	Q5VWP3	CF142_HUMAN	hypothetical protein LOC90523	433											0	Lung NSC(77;0.0317)													0.221053	46.526853	53.330523	21	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54095697	54095697	2437	6	T	A	A	A	751	58	C6orf142	3	3
FAM83B	222584	broad.mit.edu	37	6	54805949	54805949	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54805949G>T	uc003pck.2	+	c.2180G>T	c.(2179-2181)AGA>ATA	p.R727I		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	727										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)													0.304348	50.313649	52.694253	21	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54805949	54805949	5860	6	G	T	T	T	429	33	FAM83B	2	2
DST	667	broad.mit.edu	37	6	56399962	56399962	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56399962C>A	uc003pdf.2	-	c.10542G>T	c.(10540-10542)TCG>TCT	p.S3514S	DST_uc003pcz.3_Silent_p.S3336S|DST_uc011dxj.1_Silent_p.S3365S|DST_uc011dxk.1_Silent_p.S3376S|DST_uc003pcy.3_Silent_p.S3010S	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5422	Spectrin 8.				cell adhesion|cell cycle arrest|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasmic membrane-bounded vesicle|hemidesmosome|microtubule plus end|nucleus	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding			ovary(7)|central_nervous_system(6)	13	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)							2498				0.041958	-20.822593	11.372114	6	137	KEEP	---	---	---	---	capture		Silent	SNP	56399962	56399962	4967	6	C	A	A	A	288	23	DST	1	1
LY86	9450	broad.mit.edu	37	6	6588981	6588981	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:6588981C>A	uc003mwy.1	+	c.14C>A	c.(13-15)ACA>AAA	p.T5K	LOC285780_uc003mww.3_Intron|LOC285780_uc003mwx.2_Intron	NM_004271	NP_004262	O95711	LY86_HUMAN	MD-1, RP105-associated precursor	5					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane					0	Ovarian(93;0.0377)													0.074074	-0.403708	14.677945	6	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6588981	6588981	9477	6	C	A	A	A	221	17	LY86	2	2
CD109	135228	broad.mit.edu	37	6	74497100	74497100	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:74497100G>T	uc003php.2	+	c.2481G>T	c.(2479-2481)CTG>CTT	p.L827L	CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Silent_p.L827L|CD109_uc010kba.2_Silent_p.L750L	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	827						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4														0.142857	11.991509	18.014569	7	42	KEEP	---	---	---	---	capture		Silent	SNP	74497100	74497100	3090	6	G	T	T	T	600	47	CD109	2	2
HTR1B	3351	broad.mit.edu	37	6	78172306	78172306	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:78172306G>T	uc003pil.1	-	c.815C>A	c.(814-816)TCG>TAG	p.S272*		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	272	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)									0.099099	7.855233	25.681514	11	100	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	78172306	78172306	7737	6	G	T	T	T	481	37	HTR1B	5	1
EPHA7	2045	broad.mit.edu	37	6	94120573	94120574	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:94120573_94120574GG>TT	uc003poe.2	-	c.477_478CC>AA	c.(475-480)GACCTT>GAAATT	p.159_160DL>EI	EPHA7_uc003pof.2_Missense_Mutation_p.159_160DL>EI|EPHA7_uc011eac.1_Missense_Mutation_p.159_160DL>EI|EPHA7_uc003pog.3_Missense_Mutation_p.159_160DL>EI	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	159_160	Extracellular (Potential).				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				0.058824	-6.783055	10.534093	5	80	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	94120573	94120574	5365	6	GG	TT	TT	TT	455	35	EPHA7	2	2
C7orf51	222950	broad.mit.edu	37	7	100086049	100086049	+	Silent	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100086049T>C	uc003uvd.1	+	c.705T>C	c.(703-705)GCT>GCC	p.A235A	C7orf51_uc003uve.1_Silent_p.A17A	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	235											0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.236842	22.612141	24.978966	9	29	KEEP	---	---	---	---	capture		Silent	SNP	100086049	100086049	2507	7	T	C	C	C	704	55	C7orf51	4	4
ZAN	7455	broad.mit.edu	37	7	100352909	100352909	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100352909C>A	uc003uwj.2	+	c.3185C>A	c.(3184-3186)CCC>CAC	p.P1062H	ZAN_uc003uwk.2_Missense_Mutation_p.P1062H|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	1062	TIL 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)											0.061538	-10.583876	15.490109	8	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100352909	100352909	18096	7	C	A	A	A	286	22	ZAN	2	2
MUC17	140453	broad.mit.edu	37	7	100677732	100677732	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100677732C>A	uc003uxp.1	+	c.3035C>A	c.(3034-3036)ACT>AAT	p.T1012N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1012	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15.					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)													0.078292	-5.671884	45.635229	22	259	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100677732	100677732	10368	7	C	A	A	A	260	20	MUC17	2	2
MUC17	140453	broad.mit.edu	37	7	100684017	100684017	+	Nonsense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100684017T>A	uc003uxp.1	+	c.9320T>A	c.(9319-9321)TTA>TAA	p.L3107*	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3107	Extracellular (Potential).|Ser-rich.|50.|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)													0.135036	57.224161	92.569043	37	237	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100684017	100684017	10368	7	T	A	A	A	793	61	MUC17	5	3
PLOD3	8985	broad.mit.edu	37	7	100850973	100850973	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100850973C>A	uc003uyd.2	-	c.1821G>T	c.(1819-1821)GTG>GTT	p.V607V	PLOD3_uc010lhs.2_Silent_p.V172V	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	607					oxidation-reduction process|protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)									0.114286	4.410612	9.513369	4	31	KEEP	---	---	---	---	capture		Silent	SNP	100850973	100850973	12529	7	C	A	A	A	314	25	PLOD3	2	2
RELN	5649	broad.mit.edu	37	7	103244895	103244895	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103244895T>A	uc003vca.2	-	c.3044A>T	c.(3043-3045)TAT>TTT	p.Y1015F	RELN_uc010liz.2_Missense_Mutation_p.Y1015F	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1015					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.12069	10.600087	18.767002	7	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103244895	103244895	13689	7	T	A	A	A	637	49	RELN	3	3
PIK3CG	5294	broad.mit.edu	37	7	106508290	106508290	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:106508290A>T	uc003vdv.3	+	c.284A>T	c.(283-285)CAC>CTC	p.H95L	PIK3CG_uc003vdu.2_Missense_Mutation_p.H95L|PIK3CG_uc003vdw.2_Missense_Mutation_p.H95L	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	95					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.2	18.285389	21.627446	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106508290	106508290	12340	7	A	T	T	T	78	6	PIK3CG	3	3
LAMB1	3912	broad.mit.edu	37	7	107580556	107580556	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107580556G>T	uc003vev.2	-	c.3711C>A	c.(3709-3711)ATC>ATA	p.I1237I	LAMB1_uc003vew.2_Silent_p.I1213I	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1213	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)	4					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.114583	10.931447	24.925982	11	85	KEEP	---	---	---	---	capture		Silent	SNP	107580556	107580556	8933	7	G	T	T	T	473	37	LAMB1	1	1
TFEC	22797	broad.mit.edu	37	7	115580691	115580691	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:115580691G>T	uc003vhj.1	-	c.958C>A	c.(958-960)CCT>ACT	p.P320T	TFEC_uc003vhk.1_Missense_Mutation_p.P291T|TFEC_uc003vhl.3_3'UTR|TFEC_uc011kmw.1_3'UTR	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	320	Necessary for transcriptional transactivation.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulator activity			large_intestine(1)	1			STAD - Stomach adenocarcinoma(10;0.00878)											0.153846	16.836993	27.262113	14	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115580691	115580691	16330	7	G	T	T	T	533	41	TFEC	2	2
ASZ1	136991	broad.mit.edu	37	7	117067454	117067454	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:117067454C>T	uc003vjb.2	-	c.61G>A	c.(61-63)GAG>AAG	p.E21K	ASZ1_uc011kno.1_Missense_Mutation_p.E21K|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper	21					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)									OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.092593	2.835882	11.853968	5	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117067454	117067454	1088	7	C	T	T	T	403	31	ASZ1	1	1
PTPRZ1	5803	broad.mit.edu	37	7	121612652	121612652	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121612652T>A	uc003vjy.2	+	c.362T>A	c.(361-363)TTT>TAT	p.F121Y	PTPRZ1_uc003vjz.2_Missense_Mutation_p.F121Y	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	121	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														0.152778	16.075826	24.393443	11	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121612652	121612652	13272	7	T	A	A	A	832	64	PTPRZ1	3	3
PTPRZ1	5803	broad.mit.edu	37	7	121650794	121650794	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:121650794T>C	uc003vjy.2	+	c.1694T>C	c.(1693-1695)ATA>ACA	p.I565T	PTPRZ1_uc003vjz.2_Missense_Mutation_p.I565T|PTPRZ1_uc011knt.1_Missense_Mutation_p.I15T	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	565	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9														0.09434	4.952245	13.697235	5	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121650794	121650794	13272	7	T	C	C	C	637	49	PTPRZ1	4	4
RBM28	55131	broad.mit.edu	37	7	127970895	127970895	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127970895T>C	uc003vmp.2	-	c.1106A>G	c.(1105-1107)CAT>CGT	p.H369R	RBM28_uc003vmo.2_5'UTR|RBM28_uc011koj.1_Missense_Mutation_p.H228R|RBM28_uc011kok.1_Missense_Mutation_p.H316R	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	369	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2														0.064516	-4.737132	7.497012	4	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127970895	127970895	13590	7	T	C	C	C	663	51	RBM28	4	4
FLNC	2318	broad.mit.edu	37	7	128492994	128492994	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128492994G>A	uc003vnz.3	+	c.6117G>A	c.(6115-6117)GGG>GGA	p.G2039G	FLNC_uc003voa.3_Silent_p.G2006G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2039	Filamin 19.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.071429	-0.978612	6.94244	3	39	KEEP	---	---	---	---	capture		Silent	SNP	128492994	128492994	6177	7	G	A	A	A	548	43	FLNC	2	2
FLNC	2318	broad.mit.edu	37	7	128498531	128498531	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128498531G>T	uc003vnz.3	+	c.8132G>T	c.(8131-8133)GGT>GTT	p.G2711V	FLNC_uc003voa.3_Missense_Mutation_p.G2678V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2711	Interaction with INPPL1.|Filamin 24.|Self-association site, tail (By similarity).				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.125	5.260753	10.74619	5	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128498531	128498531	6177	7	G	T	T	T	572	44	FLNC	2	2
CPA1	1357	broad.mit.edu	37	7	130023602	130023602	+	Silent	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130023602C>G	uc003vpx.2	+	c.663C>G	c.(661-663)ACC>ACG	p.T221T	CPA1_uc011kpf.1_Silent_p.T133T|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	221					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)													0.096774	3.199722	13.316857	6	56	KEEP	---	---	---	---	capture		Silent	SNP	130023602	130023602	3927	7	C	G	G	G	262	21	CPA1	3	3
CALD1	800	broad.mit.edu	37	7	134632491	134632491	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134632491G>C	uc003vrz.2	+	c.1765G>C	c.(1765-1767)GAG>CAG	p.E589Q	CALD1_uc003vry.2_Missense_Mutation_p.E334Q|CALD1_uc003vsa.2_Missense_Mutation_p.E360Q|CALD1_uc003vsb.2_Missense_Mutation_p.E334Q|CALD1_uc010lmm.2_Missense_Mutation_p.E360Q|CALD1_uc011kpt.1_Missense_Mutation_p.E108Q|CALD1_uc003vsc.2_Missense_Mutation_p.E354Q|CALD1_uc003vsd.2_Missense_Mutation_p.E328Q|CALD1_uc011kpu.1_Missense_Mutation_p.E339Q|CALD1_uc011kpv.1_Missense_Mutation_p.E198Q|CALD1_uc003vse.2_Missense_Mutation_p.E453Q	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	589	Tropomyosin-binding (Potential).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0														0.238095	12.680339	13.985236	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134632491	134632491	2697	7	G	C	C	C	533	41	CALD1	3	3
NUP205	23165	broad.mit.edu	37	7	135290944	135290944	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:135290944G>T	uc003vsw.2	+	c.2875G>T	c.(2875-2877)GAT>TAT	p.D959Y		NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	959					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6														0.087379	0.895034	18.652024	9	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135290944	135290944	11164	7	G	T	T	T	429	33	NUP205	2	2
KEL	3792	broad.mit.edu	37	7	142654981	142654981	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142654981C>A	uc003wcb.2	-	c.605G>T	c.(604-606)GGC>GTC	p.G202V		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	202	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)													0.068182	-1.80504	6.677793	3	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142654981	142654981	8448	7	C	A	A	A	338	26	KEL	2	2
CLCN1	1180	broad.mit.edu	37	7	143016969	143016969	+	Splice_Site_SNP	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143016969G>C	uc003wcr.1	+	c.301_splice	c.e2+1	p.D101_splice	CLCN1_uc011ktc.1_Splice_Site_SNP|CLCN1_uc003wcs.1_5'Flank|CLCN1_uc010lox.1_5'Flank|CLCN1_uc010loy.1_5'Flank	NM_000083	NP_000074			chloride channel 1, skeletal muscle						muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)|breast(1)|central_nervous_system(1)	3	Melanoma(164;0.205)													0.212766	54.984836	62.12427	20	74	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	143016969	143016969	3598	7	G	C	C	C	572	44	CLCN1	5	3
TPK1	27010	broad.mit.edu	37	7	144245644	144245644	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:144245644G>T	uc003weq.2	-	c.553C>A	c.(553-555)CTT>ATT	p.L185I	TPK1_uc003weo.2_Missense_Mutation_p.L131I|TPK1_uc003wep.2_Non-coding_Transcript|TPK1_uc003wer.2_Missense_Mutation_p.L136I|TPK1_uc003wes.2_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	185					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	Ovarian(45;88 1034 2073 5829 28455)								0.155556	25.402942	35.592392	14	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144245644	144245644	16948	7	G	T	T	T	455	35	TPK1	2	2
DGKB	1607	broad.mit.edu	37	7	14613905	14613905	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:14613905T>C	uc003ssz.2	-	c.1705A>G	c.(1705-1707)AAT>GAT	p.N569D	DGKB_uc011jxt.1_Missense_Mutation_p.N550D|DGKB_uc003sta.2_Missense_Mutation_p.N569D|DGKB_uc011jxu.1_Missense_Mutation_p.N568D	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	569					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)					800				0.170068	63.645847	78.732847	25	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14613905	14613905	4645	7	T	C	C	C	793	61	DGKB	4	4
ZNF425	155054	broad.mit.edu	37	7	148802424	148802424	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148802424C>A	uc003wfj.2	-	c.539G>T	c.(538-540)CGC>CTC	p.R180L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)											0.074627	-0.340477	12.067632	5	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148802424	148802424	18492	7	C	A	A	A	351	27	ZNF425	1	1
ZNF425	155054	broad.mit.edu	37	7	148802491	148802491	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:148802491C>A	uc003wfj.2	-	c.472G>T	c.(472-474)GTC>TTC	p.V158F		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)											0.078261	0.30165	21.192268	9	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148802491	148802491	18492	7	C	A	A	A	260	20	ZNF425	2	2
GIMAP8	155038	broad.mit.edu	37	7	150167962	150167962	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150167962G>C	uc003whj.2	+	c.682G>C	c.(682-684)GGC>CGC	p.G228R		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	228						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)										0.115385	3.317215	7.096216	3	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150167962	150167962	6653	7	G	C	C	C	559	43	GIMAP8	3	3
ABCB8	11194	broad.mit.edu	37	7	150731593	150731593	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150731593G>T	uc003wil.3	+	c.617G>T	c.(616-618)GGA>GTA	p.G206V	ABCB8_uc003wii.2_Missense_Mutation_p.G226V|ABCB8_uc003wij.3_Missense_Mutation_p.G189V|ABCB8_uc010lpw.1_Missense_Mutation_p.G8V|ABCB8_uc010lpx.2_Missense_Mutation_p.G189V|ABCB8_uc011kvd.1_Missense_Mutation_p.G101V|ABCB8_uc003wim.3_5'UTR|ABCB8_uc003wik.3_Missense_Mutation_p.G189V	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	206	ABC transmembrane type-1.|Helical; (Potential).					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.119266	5.008921	20.606059	13	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150731593	150731593	48	7	G	T	T	T	533	41	ABCB8	2	2
CDK5	1020	broad.mit.edu	37	7	150752434	150752434	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150752434C>A	uc003wir.1	-	c.510G>T	c.(508-510)CCG>CCT	p.P170P	CDK5_uc003wis.1_Silent_p.P138P	NM_004935	NP_004926	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5 isoform 1	170	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			lung(1)|central_nervous_system(1)	2		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)						132				0.078947	0.160253	6.981248	3	35	KEEP	---	---	---	---	capture		Silent	SNP	150752434	150752434	3271	7	C	A	A	A	288	23	CDK5	1	1
MLL3	58508	broad.mit.edu	37	7	151904477	151904477	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151904477G>T	uc003wla.2	-	c.3749C>A	c.(3748-3750)TCT>TAT	p.S1250Y	MLL3_uc003wkz.2_Missense_Mutation_p.S311Y	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1250					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			pancreas(12)|ovary(7)|large_intestine(6)|central_nervous_system(4)|urinary_tract(1)|skin(1)	31	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		Colon(68;14 1149 1884 27689 34759)				1780				0.125	9.753511	18.54888	8	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151904477	151904477	10012	7	G	T	T	T	429	33	MLL3	2	2
UBE3C	9690	broad.mit.edu	37	7	156963050	156963050	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:156963050G>C	uc010lqs.2	+	c.248G>C	c.(247-249)GGG>GCG	p.G83A	UBE3C_uc003wnf.2_Missense_Mutation_p.G40A|UBE3C_uc003wng.2_Missense_Mutation_p.G83A	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	83					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|ovary(1)	2		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)										0.169811	31.902257	42.83088	18	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156963050	156963050	17439	7	G	C	C	C	559	43	UBE3C	3	3
ABCB5	340273	broad.mit.edu	37	7	20738036	20738036	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20738036C>A	uc010kuh.2	+	c.2017C>A	c.(2017-2019)CTT>ATT	p.L673I	ABCB5_uc003suw.3_Missense_Mutation_p.L228I	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	228	Extracellular (Potential).				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.14	9.19478	15.453315	7	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20738036	20738036	45	7	C	A	A	A	416	32	ABCB5	2	2
ABCB5	340273	broad.mit.edu	37	7	20793064	20793064	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20793064C>A	uc010kuh.2	+	c.3511C>A	c.(3511-3513)CTC>ATC	p.L1171I	ABCB5_uc003suw.3_Missense_Mutation_p.L726I	NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	726	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			large_intestine(1)|ovary(1)|pancreas(1)	3														0.140625	13.528594	21.510417	9	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20793064	20793064	45	7	C	A	A	A	416	32	ABCB5	2	2
FTSJ2	29960	broad.mit.edu	37	7	2279214	2279214	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:2279214G>A	uc003slm.2	-	c.137C>T	c.(136-138)GCT>GTT	p.A46V	FTSJ2_uc003slk.2_5'UTR|FTSJ2_uc003sll.2_5'UTR|FTSJ2_uc003sln.2_Non-coding_Transcript|FTSJ2_uc003slo.2_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	FtsJ homolog 2	46					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)										0.042553	-13.249945	7.833174	4	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2279214	2279214	6339	7	G	A	A	A	442	34	FTSJ2	2	2
FAM126A	84668	broad.mit.edu	37	7	22985289	22985289	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:22985289T>A	uc003svm.3	-	c.1485A>T	c.(1483-1485)TCA>TCT	p.S495S	FAM126A_uc003svn.3_3'UTR	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	495						cytoplasm|membrane	signal transducer activity			central_nervous_system(1)	1														0.19802	48.257672	56.820812	20	81	KEEP	---	---	---	---	capture		Silent	SNP	22985289	22985289	5626	7	T	A	A	A	704	55	FAM126A	3	3
C7orf31	136895	broad.mit.edu	37	7	25194712	25194712	+	Silent	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:25194712C>G	uc003sxn.1	-	c.513G>C	c.(511-513)ACG>ACC	p.T171T	C7orf31_uc003sxm.1_Silent_p.T13T	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	171											0														0.117647	5.183827	10.063041	4	30	KEEP	---	---	---	---	capture		Silent	SNP	25194712	25194712	2494	7	C	G	G	G	288	23	C7orf31	3	3
CPVL	54504	broad.mit.edu	37	7	29070193	29070193	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:29070193C>G	uc003szv.2	-	c.1320G>C	c.(1318-1320)CAG>CAC	p.Q440H	CPVL_uc003szw.2_Missense_Mutation_p.Q440H|CPVL_uc003szx.2_Missense_Mutation_p.Q440H	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	440					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2														0.085106	-1.314232	23.324795	12	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29070193	29070193	3974	7	C	G	G	G	311	24	CPVL	3	3
PDE1C	5137	broad.mit.edu	37	7	31913022	31913022	+	Splice_Site_SNP	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31913022C>A	uc003tco.1	-	c.673_splice	c.e7-1	p.D225_splice	PDE1C_uc003tcm.1_Splice_Site_SNP_p.D165_splice|PDE1C_uc003tcn.1_Splice_Site_SNP_p.D165_splice|PDE1C_uc003tcr.2_Splice_Site_SNP_p.D165_splice|PDE1C_uc003tcs.2_Splice_Site_SNP_p.D165_splice	NM_005020	NP_005011			phosphodiesterase 1C						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(11;0.216)											0.21875	16.106138	18.439901	7	25	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	31913022	31913022	12056	7	C	A	A	A	312	24	PDE1C	5	2
PDE1C	5137	broad.mit.edu	37	7	32209517	32209517	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:32209517C>A	uc003tco.1	-	c.188G>T	c.(187-189)GGG>GTG	p.G63V		NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	Error:Variant_position_missing_in_Q14123_after_alignment					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(11;0.216)											0.144444	20.617317	31.568285	13	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32209517	32209517	12056	7	C	A	A	A	274	22	PDE1C	2	2
ANLN	54443	broad.mit.edu	37	7	36463494	36463494	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:36463494G>C	uc003tff.2	+	c.2545G>C	c.(2545-2547)GCA>CCA	p.A849P	ANLN_uc011kaz.1_Missense_Mutation_p.A761P|ANLN_uc003tfg.2_Missense_Mutation_p.A812P|ANLN_uc010kxe.2_Missense_Mutation_p.A811P	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	849	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3														0.169014	24.856152	32.22029	12	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36463494	36463494	702	7	G	C	C	C	442	34	ANLN	3	3
TXNDC3	51314	broad.mit.edu	37	7	37890007	37890007	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:37890007G>A	uc003tfn.2	+	c.61G>A	c.(61-63)GAT>AAT	p.D21N		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	21	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						Ovarian(108;903 1537 27096 29907 47400)								0.183099	57.481415	70.855111	26	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37890007	37890007	17354	7	G	A	A	A	533	41	TXNDC3	2	2
AMPH	273	broad.mit.edu	37	7	38530667	38530667	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:38530667G>C	uc003tgu.2	-	c.379C>G	c.(379-381)CAA>GAA	p.Q127E	AMPH_uc003tgv.2_Missense_Mutation_p.Q127E	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	127	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)	4														0.131737	38.191364	60.157731	22	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38530667	38530667	591	7	G	C	C	C	598	46	AMPH	3	3
GLI3	2737	broad.mit.edu	37	7	42005086	42005086	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:42005086G>A	uc011kbh.1	-	c.3585C>T	c.(3583-3585)AAC>AAT	p.N1195N	GLI3_uc011kbg.1_Silent_p.N1136N	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1195					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8									p.N1195N(NUDUL1-Tumor)	806				0.071429	-6.845846	14.420035	8	104	KEEP	---	---	---	---	capture		Silent	SNP	42005086	42005086	6707	7	G	A	A	A	516	40	GLI3	1	1
SPDYE1	285955	broad.mit.edu	37	7	44046939	44046939	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44046939G>A	uc003tjf.2	+	c.705G>A	c.(703-705)AAG>AAA	p.K235K	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.2_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.3_Intron	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Williams Beuren syndrome chromosome region 19	235										ovary(1)	1														0.131868	35.277873	59.479506	24	158	KEEP	---	---	---	---	capture		Silent	SNP	44046939	44046939	15539	7	G	A	A	A	425	33	SPDYE1	2	2
ZMIZ2	83637	broad.mit.edu	37	7	44801092	44801092	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44801092G>T	uc003tlr.2	+	c.1285G>T	c.(1285-1287)GAT>TAT	p.D429Y	ZMIZ2_uc003tlq.2_Missense_Mutation_p.D371Y|ZMIZ2_uc003tls.2_Missense_Mutation_p.D403Y|ZMIZ2_uc003tlt.2_Missense_Mutation_p.D52Y|ZMIZ2_uc010kyj.2_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	429					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						NSCLC(20;604 852 1948 16908 50522)								0.22449	25.307763	28.720847	11	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44801092	44801092	18288	7	G	T	T	T	481	37	ZMIZ2	1	1
SUN3	256979	broad.mit.edu	37	7	48068523	48068523	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48068523T>A	uc003tof.2	-	c.13A>T	c.(13-15)ACA>TCA	p.T5S	SUN3_uc003tog.2_Missense_Mutation_p.T5S|SUN3_uc011kcf.1_5'UTR	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	5						integral to membrane				central_nervous_system(1)	1														0.215385	29.926845	34.781678	14	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48068523	48068523	15913	7	T	A	A	A	780	60	SUN3	3	3
UPP1	7378	broad.mit.edu	37	7	48142961	48142961	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48142961G>T	uc003toj.2	+	c.389G>T	c.(388-390)CGG>CTG	p.R130L	UPP1_uc003tok.2_Missense_Mutation_p.R130L|UPP1_uc003tol.2_Missense_Mutation_p.R130L|UPP1_uc011kcg.1_Missense_Mutation_p.R130L|UPP1_uc011kch.1_Intron|UPP1_uc003ton.2_Intron|UPP1_uc003too.2_Intron	NM_181597	NP_853628	Q16831	UPP1_HUMAN	uridine phosphorylase 1	130					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity				0														0.139535	22.658156	33.437209	12	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48142961	48142961	17573	7	G	T	T	T	507	39	UPP1	1	1
ABCA13	154664	broad.mit.edu	37	7	48258959	48258959	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48258959G>T	uc003toq.2	+	c.296G>T	c.(295-297)AGG>ATG	p.R99M	ABCA13_uc003top.2_Missense_Mutation_p.R99M|ABCA13_uc010kyr.2_De_novo_Start_OutOfFrame	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	99					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.111111	4.372097	9.756186	4	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48258959	48258959	32	7	G	T	T	T	455	35	ABCA13	2	2
POM121L12	285877	broad.mit.edu	37	7	53103455	53103455	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53103455G>T	uc003tpz.2	+	c.91G>T	c.(91-93)GCT>TCT	p.A31S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	31											0														0.166667	7.856252	11.018507	5	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53103455	53103455	12669	7	G	T	T	T	546	42	POM121L12	2	2
EIF2AK1	27102	broad.mit.edu	37	7	6089666	6089666	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:6089666C>G	uc003spp.2	-	c.288G>C	c.(286-288)CAG>CAC	p.Q96H	EIF2AK1_uc003spq.2_Missense_Mutation_p.Q96H|EIF2AK1_uc011jwm.1_Intron	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha	96					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)						253				0.12766	7.9149	14.270902	6	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6089666	6089666	5185	7	C	G	G	G	415	32	EIF2AK1	3	3
HGF	3082	broad.mit.edu	37	7	81334734	81334734	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81334734G>T	uc003uhl.2	-	c.1982C>A	c.(1981-1983)GCT>GAT	p.A661D	HGF_uc003uhm.2_Missense_Mutation_p.A656D	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	661	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.092308	3.614142	14.476978	6	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81334734	81334734	7369	7	G	T	T	T	442	34	HGF	2	2
HGF	3082	broad.mit.edu	37	7	81334976	81334976	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81334976C>A	uc003uhl.2	-	c.1851G>T	c.(1849-1851)TGG>TGT	p.W617C	HGF_uc003uhm.2_Missense_Mutation_p.W612C	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	617	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4										800				0.066667	-2.146936	9.528675	4	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81334976	81334976	7369	7	C	A	A	A	286	22	HGF	2	2
CACNA2D1	781	broad.mit.edu	37	7	81588610	81588610	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81588610C>A	uc003uhr.1	-	c.3140G>T	c.(3139-3141)TGC>TTC	p.C1047F	CACNA2D1_uc011kgy.1_Missense_Mutation_p.C259F	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	1059	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)									0.090909	0.575069	11.825517	6	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81588610	81588610	2664	7	C	A	A	A	325	25	CACNA2D1	2	2
CACNA2D1	781	broad.mit.edu	37	7	81589101	81589101	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81589101A>G	uc003uhr.1	-	c.3011T>C	c.(3010-3012)ATA>ACA	p.I1004T	CACNA2D1_uc011kgy.1_Missense_Mutation_p.I216T	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	1016	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)									0.146341	12.723913	17.651044	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81589101	81589101	2664	7	A	G	G	G	208	16	CACNA2D1	4	4
HEPACAM2	253012	broad.mit.edu	37	7	92838067	92838067	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92838067A>T	uc011khy.1	-	c.907T>A	c.(907-909)TAC>AAC	p.Y303N	HEPACAM2_uc003uml.2_Missense_Mutation_p.Y268N|HEPACAM2_uc010lff.2_Missense_Mutation_p.Y268N|HEPACAM2_uc003umm.2_Missense_Mutation_p.Y280N	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 2	280	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.253968	40.478059	43.934147	16	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92838067	92838067	7336	7	A	T	T	T	195	15	HEPACAM2	3	3
VPS13B	157680	broad.mit.edu	37	8	100832257	100832257	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:100832257C>A	uc003yiv.2	+	c.8976C>A	c.(8974-8976)ATC>ATA	p.I2992I	VPS13B_uc003yiw.2_Silent_p.I2967I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2992					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			Colon(161;2205 2542 7338 31318)				1116				0.055215	-17.005416	16.904179	9	154	KEEP	---	---	---	---	capture		Silent	SNP	100832257	100832257	17757	8	C	A	A	A	369	29	VPS13B	2	2
ATP6V1C1	528	broad.mit.edu	37	8	104066159	104066159	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104066159A>T	uc003ykz.3	+	c.521A>T	c.(520-522)GAC>GTC	p.D174V	ATP6V1C1_uc010mbz.2_Missense_Mutation_p.D99V|ATP6V1C1_uc003yla.2_Missense_Mutation_p.D174V|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.D99V	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	174					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)											0.084211	1.930805	18.601719	8	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104066159	104066159	1199	8	A	T	T	T	130	10	ATP6V1C1	3	3
RP1L1	94137	broad.mit.edu	37	8	10468702	10468702	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10468702A>T	uc003wtc.2	-	c.2906T>A	c.(2905-2907)ATA>AAA	p.I969K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	969					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.101124	5.44324	19.553713	9	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10468702	10468702	14012	8	A	T	T	T	208	16	RP1L1	3	3
RIMS2	9699	broad.mit.edu	37	8	104987593	104987593	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104987593G>A	uc003yls.2	+	c.2120G>A	c.(2119-2121)GGT>GAT	p.G707D	RIMS2_uc003ylp.2_Missense_Mutation_p.G929D|RIMS2_uc003ylw.2_Missense_Mutation_p.G721D|RIMS2_uc003ylq.2_Missense_Mutation_p.G721D|RIMS2_uc003ylr.2_Missense_Mutation_p.G768D|RIMS2_uc003ylt.2_Missense_Mutation_p.G314D	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	991					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				0.129032	6.496448	10.635095	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104987593	104987593	13845	8	G	A	A	A	572	44	RIMS2	2	2
RIMS2	9699	broad.mit.edu	37	8	105263260	105263260	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105263260G>T	uc003yls.2	+	c.3754G>T	c.(3754-3756)GTA>TTA	p.V1252L	RIMS2_uc003ylp.2_Missense_Mutation_p.V1234L|RIMS2_uc003ylw.2_Missense_Mutation_p.V1241L|RIMS2_uc003ylq.2_Missense_Mutation_p.V1048L|RIMS2_uc003ylr.2_Missense_Mutation_p.V1073L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1296	C2 2.				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				0.109091	7.012585	15.335476	6	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105263260	105263260	13845	8	G	T	T	T	624	48	RIMS2	2	2
RIMS2	9699	broad.mit.edu	37	8	105263899	105263899	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105263899G>T	uc003yls.2	+	c.3955G>T	c.(3955-3957)GAT>TAT	p.D1319Y	RIMS2_uc003ylp.2_Missense_Mutation_p.D1301Y|RIMS2_uc003ylq.2_Missense_Mutation_p.D1115Y|RIMS2_uc003ylr.2_Missense_Mutation_p.D1140Y	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1363					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				0.123894	17.679824	33.304504	14	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105263899	105263899	13845	8	G	T	T	T	429	33	RIMS2	2	2
TM7SF4	81501	broad.mit.edu	37	8	105361660	105361660	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105361660G>T	uc003ylx.1	+	c.880G>T	c.(880-882)GGG>TGG	p.G294W		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	294	Helical; (Potential).				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.046512	-22.929585	14.690628	8	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105361660	105361660	16506	8	G	T	T	T	559	43	TM7SF4	2	2
LRP12	29967	broad.mit.edu	37	8	105503207	105503207	+	Silent	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105503207T>C	uc003yma.2	-	c.2274A>G	c.(2272-2274)AGA>AGG	p.R758R	LRP12_uc003ymb.2_Silent_p.R739R|LRP12_uc003ylz.2_Silent_p.R164R	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	758	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.068493	-2.747768	11.277862	5	68	KEEP	---	---	---	---	capture		Silent	SNP	105503207	105503207	9327	8	T	C	C	C	751	58	LRP12	4	4
OXR1	55074	broad.mit.edu	37	8	107691480	107691480	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:107691480G>A	uc011lht.1	+	c.266G>A	c.(265-267)CGA>CAA	p.R89Q	OXR1_uc003ymf.2_Missense_Mutation_p.R88Q|OXR1_uc011lhu.1_Missense_Mutation_p.R81Q|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.R21Q|OXR1_uc003ymi.1_5'UTR	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	89					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)											0.14	12.897663	19.148844	7	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107691480	107691480	11747	8	G	A	A	A	481	37	OXR1	1	1
RSPO2	340419	broad.mit.edu	37	8	109094816	109094816	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:109094816A>T	uc003yms.2	-	c.51T>A	c.(49-51)GAT>GAA	p.D17E	RSPO2_uc003ymq.2_5'Flank|RSPO2_uc003ymr.2_Missense_Mutation_p.D17E	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	R-spondin family, member 2 precursor	17					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)											0.216216	19.993892	22.732643	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109094816	109094816	14190	8	A	T	T	T	50	4	RSPO2	3	3
PKHD1L1	93035	broad.mit.edu	37	8	110477060	110477060	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110477060G>T	uc003yne.2	+	c.7999G>T	c.(7999-8001)GCC>TCC	p.A2667S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2667	Extracellular (Potential).|PbH1 3.				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)											0.104651	6.046009	19.391271	9	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110477060	110477060	12397	8	G	T	T	T	598	46	PKHD1L1	2	2
CSMD3	114788	broad.mit.edu	37	8	113694713	113694713	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113694713C>A	uc003ynu.2	-	c.2635G>T	c.(2635-2637)GAT>TAT	p.D879Y	CSMD3_uc003yns.2_Missense_Mutation_p.D151Y|CSMD3_uc003ynt.2_Missense_Mutation_p.D839Y|CSMD3_uc011lhx.1_Missense_Mutation_p.D775Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	879	Sushi 4.|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)			0.047619	-13.416083	9.466517	5	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113694713	113694713	4087	8	C	A	A	A	390	30	CSMD3	2	2
TRPS1	7227	broad.mit.edu	37	8	116427108	116427108	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116427108G>T	uc003yny.2	-	c.3028C>A	c.(3028-3030)CCA>ACA	p.P1010T	TRPS1_uc011lhy.1_Missense_Mutation_p.P1001T|TRPS1_uc010mcy.2_Missense_Mutation_p.P997T|TRPS1_uc003ynz.2_Missense_Mutation_p.P997T	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	997	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)							312				0.076923	-4.029522	19.779193	10	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116427108	116427108	17144	8	G	T	T	T	533	41	TRPS1	2	2
RAD21	5885	broad.mit.edu	37	8	117868937	117868937	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:117868937C>G	uc003yod.2	-	c.762G>C	c.(760-762)ATG>ATC	p.M254I		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	254					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of gene-specific transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)									357				0.105263	3.450428	18.33589	10	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117868937	117868937	13440	8	C	G	G	G	221	17	RAD21	3	3
COL14A1	7373	broad.mit.edu	37	8	121222052	121222052	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121222052G>A	uc003yox.2	+	c.1379G>A	c.(1378-1380)CGA>CAA	p.R460Q	COL14A1_uc003yoy.2_Missense_Mutation_p.R138Q|COL14A1_uc010mde.1_Missense_Mutation_p.R138Q	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	460	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)							1131				0.052632	-9.084586	10.984734	5	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121222052	121222052	3809	8	G	A	A	A	481	37	COL14A1	1	1
EFR3A	23167	broad.mit.edu	37	8	132991151	132991151	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:132991151G>T	uc003yte.2	+	c.1384G>T	c.(1384-1386)GAT>TAT	p.D462Y		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	EFR3 homolog A	462						plasma membrane	binding			ovary(3)|breast(1)|central_nervous_system(1)	5	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)											0.15	18.347353	27.665163	12	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132991151	132991151	5146	8	G	T	T	T	533	41	EFR3A	2	2
OC90	729330	broad.mit.edu	37	8	133053387	133053387	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133053387G>T	uc003ytg.2	-	c.313C>A	c.(313-315)CGC>AGC	p.R105S	OC90_uc011lix.1_Missense_Mutation_p.R121S	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	121	Phospholipase A2-like 1.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)											0.075472	-2.141573	17.416071	8	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133053387	133053387	11219	8	G	T	T	T	507	39	OC90	1	1
PHF20L1	51105	broad.mit.edu	37	8	133807005	133807005	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133807005G>C	uc003ytt.2	+	c.282G>C	c.(280-282)CTG>CTC	p.L94L	PHF20L1_uc003ytr.2_Silent_p.L94L|PHF20L1_uc010mdv.2_Silent_p.L94L|PHF20L1_uc003yts.2_Silent_p.L94L|PHF20L1_uc011lja.1_Silent_p.L94L|PHF20L1_uc003ytu.1_Non-coding_Transcript|PHF20L1_uc003ytq.2_Silent_p.L94L	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	94	Tudor 2.						nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)											0.153846	7.342768	11.817266	6	33	KEEP	---	---	---	---	capture		Silent	SNP	133807005	133807005	12255	8	G	C	C	C	600	47	PHF20L1	3	3
PHF20L1	51105	broad.mit.edu	37	8	133829707	133829707	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133829707G>T	uc003ytt.2	+	c.1496G>T	c.(1495-1497)AGG>ATG	p.R499M	PHF20L1_uc003yts.2_Missense_Mutation_p.R499M|PHF20L1_uc011lja.1_Missense_Mutation_p.R473M|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	499							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)											0.2	18.77699	22.125188	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133829707	133829707	12255	8	G	T	T	T	455	35	PHF20L1	2	2
TG	7038	broad.mit.edu	37	8	133931682	133931682	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133931682C>A	uc003ytw.2	+	c.4440C>A	c.(4438-4440)TTC>TTA	p.F1480L	TG_uc010mdw.2_Missense_Mutation_p.F239L|TG_uc011ljb.1_5'UTR|TG_uc003ytx.1_Non-coding_Transcript	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1480	Type II.				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				0.135593	9.387708	16.963544	8	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133931682	133931682	16341	8	C	A	A	A	415	32	TG	2	2
COL22A1	169044	broad.mit.edu	37	8	139668139	139668139	+	Splice_Site_SNP	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139668139C>A	uc003yvd.2	-	c.3333_splice	c.e45+1	p.K1111_splice	COL22A1_uc011ljo.1_Splice_Site_SNP_p.K391_splice	NM_152888	NP_690848			collagen, type XXII, alpha 1						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)											0.05914	-14.921035	22.928423	11	175	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	139668139	139668139	3819	8	C	A	A	A	234	18	COL22A1	5	2
TRAPPC9	83696	broad.mit.edu	37	8	141461087	141461087	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:141461087C>A	uc003yvh.2	-	c.680G>T	c.(679-681)CGC>CTC	p.R227L	TRAPPC9_uc003yvj.2_Missense_Mutation_p.R129L|TRAPPC9_uc003yvi.1_Missense_Mutation_p.R129L	NM_031466	NP_113654	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	129					cell differentiation	endoplasmic reticulum|Golgi apparatus					0														0.108696	5.387405	12.325747	5	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141461087	141461087	17009	8	C	A	A	A	351	27	TRAPPC9	1	1
LPL	4023	broad.mit.edu	37	8	19805777	19805777	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:19805777G>A	uc003wzk.3	+	c.175G>A	c.(175-177)GGA>AGA	p.G59R		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	59					chylomicron remodeling|fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)									0.055556	-4.221096	7.001568	3	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19805777	19805777	9294	8	G	A	A	A	507	39	LPL	1	1
TEX15	56154	broad.mit.edu	37	8	30702509	30702509	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30702509A>T	uc003xil.2	-	c.4025T>A	c.(4024-4026)GTG>GAG	p.V1342E		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1342										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.148649	16.52042	25.286838	11	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30702509	30702509	16306	8	A	T	T	T	78	6	TEX15	3	3
TEX15	56154	broad.mit.edu	37	8	30702944	30702944	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:30702944G>T	uc003xil.2	-	c.3590C>A	c.(3589-3591)TCT>TAT	p.S1197Y		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1197										ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)										0.125	3.909876	7.205933	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30702944	30702944	16306	8	G	T	T	T	429	33	TEX15	2	2
NRG1	3084	broad.mit.edu	37	8	32621438	32621438	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:32621438G>T	uc003xiu.2	+	c.1456G>T	c.(1456-1458)GTG>TTG	p.V486L	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiw.2_Missense_Mutation_p.V478L|NRG1_uc003xit.2_3'UTR|NRG1_uc003xiv.2_Missense_Mutation_p.V481L|NRG1_uc010lvr.2_Missense_Mutation_p.V223L|NRG1_uc010lvs.2_Missense_Mutation_p.V223L|NRG1_uc010lvp.2_Missense_Mutation_p.V435L|NRG1_uc010lvq.2_Missense_Mutation_p.V418L|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.V324L|NRG1_uc003xja.2_Missense_Mutation_p.V292L	NM_013956	NP_039250	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-beta1	481	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)										0.151515	8.473693	12.295438	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32621438	32621438	11052	8	G	T	T	T	520	40	NRG1	1	1
PROSC	11212	broad.mit.edu	37	8	37633506	37633508	+	Missense_Mutation	TNP	TGG	ATT	ATT			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37633506_37633508TGG>ATT	uc003xkh.2	+	c.668_670TGG>ATT	c.(667-672)ATGGGC>AATTGC	p.223_224MG>NC		NM_007198	NP_009129	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog	223_224							pyridoxal phosphate binding			central_nervous_system(1)	1		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)									0.058824	-7.290562	10.034197	5	80	KEEP	---	---	---	---	capture		Missense_Mutation	TNP	37633506	37633508	13002	8	TGG	ATT	ATT	ATT	663	51	PROSC	3	3
ADAM9	8754	broad.mit.edu	37	8	38913229	38913229	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:38913229C>A	uc003xmr.2	+	c.1529C>A	c.(1528-1530)GCC>GAC	p.A510D	ADAM9_uc011lcf.1_Non-coding_Transcript|ADAM9_uc011lcg.1_Non-coding_Transcript|ADAM9_uc010lwr.2_Non-coding_Transcript|ADAM9_uc003xms.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	510	Cys-rich.|Extracellular (Potential).				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|integrin-mediated signaling pathway|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway|visual perception	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)											0.079365	-0.356405	10.915814	5	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38913229	38913229	254	8	C	A	A	A	338	26	ADAM9	2	2
MYST3	7994	broad.mit.edu	37	8	41836297	41836297	+	Splice_Site_SNP	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:41836297T>A	uc010lxb.2	-	c.908_splice	c.e7-1	p.G303_splice	MYST3_uc010lxc.2_Splice_Site_SNP_p.G303_splice|MYST3_uc003xon.3_Splice_Site_SNP_p.G303_splice|MYST3_uc010lxd.2_Splice_Site_SNP_p.G303_splice	NM_001099412	NP_001092882			MYST histone acetyltransferase (monocytic						histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription activator activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)							476				0.079365	0.272891	11.608369	5	58	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	41836297	41836297	10499	8	T	A	A	A	689	53	MYST3	5	3
CHRNA6	8973	broad.mit.edu	37	8	42611334	42611334	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:42611334T>A	uc003xpj.2	-	c.1008A>T	c.(1006-1008)ACA>ACT	p.T336T	CHRNA6_uc011lcw.1_Silent_p.T321T	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	336	Cytoplasmic.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)											0.119048	4.788878	10.739316	5	37	KEEP	---	---	---	---	capture		Silent	SNP	42611334	42611334	3521	8	T	A	A	A	808	63	CHRNA6	3	3
PXDNL	137902	broad.mit.edu	37	8	52320839	52320839	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52320839G>C	uc003xqu.3	-	c.3345C>G	c.(3343-3345)TCC>TCG	p.S1115S	PXDNL_uc003xqt.3_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1115					hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.063291	-5.840549	9.805045	5	74	KEEP	---	---	---	---	capture		Silent	SNP	52320839	52320839	13306	8	G	C	C	C	444	35	PXDNL	3	3
PXDNL	137902	broad.mit.edu	37	8	52384864	52384864	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52384864T>C	uc003xqu.3	-	c.695A>G	c.(694-696)CAG>CGG	p.Q232R		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	232	LRRCT.				hydrogen peroxide catabolic process|oxidation-reduction process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)												0.069767	-1.910117	6.312324	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52384864	52384864	13306	8	T	C	C	C	702	54	PXDNL	4	4
RP1	6101	broad.mit.edu	37	8	55542651	55542651	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:55542651A>G	uc003xsd.1	+	c.6209A>G	c.(6208-6210)AAC>AGC	p.N2070S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	2070					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)								0.171429	11.222782	14.804745	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55542651	55542651	14011	8	A	G	G	G	26	2	RP1	4	4
ARMC1	55156	broad.mit.edu	37	8	66517566	66517566	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:66517566C>A	uc003xvl.2	-	c.589G>T	c.(589-591)GCA>TCA	p.A197S	ARMC1_uc011leo.1_Missense_Mutation_p.A95S	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	armadillo repeat-containing protein	197					metal ion transport		metal ion binding				0			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)											0.207547	26.207292	30.398058	11	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66517566	66517566	967	8	C	A	A	A	338	26	ARMC1	2	2
ADHFE1	137872	broad.mit.edu	37	8	67361160	67361160	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:67361160A>T	uc003xwb.3	+	c.689A>T	c.(688-690)CAC>CTC	p.H230L	ADHFE1_uc003xwd.3_Non-coding_Transcript|ADHFE1_uc003xwc.3_Missense_Mutation_p.H182L|ADHFE1_uc003xwe.3_Non-coding_Transcript|ADHFE1_uc003xwf.3_Non-coding_Transcript|ADHFE1_uc011les.1_Missense_Mutation_p.H160L|ADHFE1_uc011leq.1_Non-coding_Transcript|ADHFE1_uc011ler.1_Non-coding_Transcript	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	230					2-oxoglutarate metabolic process|molecular hydrogen transport|oxidation-reduction process	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)							242				0.129032	28.613284	49.382919	20	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67361160	67361160	315	8	A	T	T	T	78	6	ADHFE1	3	3
SLCO5A1	81796	broad.mit.edu	37	8	70744807	70744807	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:70744807C>A	uc003xyl.2	-	c.102G>T	c.(100-102)AGG>AGT	p.R34S	SLCO5A1_uc010lzb.2_Missense_Mutation_p.R34S|SLCO5A1_uc011lfa.1_Non-coding_Transcript|SLCO5A1_uc003xyk.2_Missense_Mutation_p.R34S|SLCO5A1_uc010lzc.2_Missense_Mutation_p.R34S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	34	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)	3	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)									OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.046512	-10.835654	7.990501	4	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70744807	70744807	15228	8	C	A	A	A	233	18	SLCO5A1	2	2
MSC	9242	broad.mit.edu	37	8	72754953	72754953	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72754953C>A	uc003xyx.1	-	c.564G>T	c.(562-564)CCG>CCT	p.P188P		NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	188					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)											0.083612	8.82807	61.432243	25	274	KEEP	---	---	---	---	capture		Silent	SNP	72754953	72754953	10261	8	C	A	A	A	288	23	MSC	1	1
ZFHX4	79776	broad.mit.edu	37	8	77764403	77764403	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77764403G>C	uc003yav.2	+	c.5111G>C	c.(5110-5112)AGC>ACC	p.S1704T	ZFHX4_uc003yau.1_Missense_Mutation_p.S1749T|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1704T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1704	Gln-rich.				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)											0.173913	8.289581	10.595456	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77764403	77764403	18223	8	G	C	C	C	442	34	ZFHX4	3	3
ZFHX4	79776	broad.mit.edu	37	8	77766690	77766690	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77766690C>A	uc003yav.2	+	c.7398C>A	c.(7396-7398)CAC>CAA	p.H2466Q	ZFHX4_uc003yau.1_Missense_Mutation_p.H2511Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.H2466Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2466	C2H2-type 16.				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)											0.059829	-8.843237	14.841353	7	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77766690	77766690	18223	8	C	A	A	A	233	18	ZFHX4	2	2
ZFHX4	79776	broad.mit.edu	37	8	77766734	77766734	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77766734C>G	uc003yav.2	+	c.7442C>G	c.(7441-7443)TCT>TGT	p.S2481C	ZFHX4_uc003yau.1_Missense_Mutation_p.S2526C|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2481C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2481					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)											0.054054	-11.429638	11.852385	6	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77766734	77766734	18223	8	C	G	G	G	416	32	ZFHX4	3	3
ZFHX4	79776	broad.mit.edu	37	8	77767190	77767190	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77767190C>A	uc003yav.2	+	c.7898C>A	c.(7897-7899)CCG>CAG	p.P2633Q	ZFHX4_uc003yau.1_Missense_Mutation_p.P2678Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2633Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2633	C2H2-type 17.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)											0.157895	12.329015	16.566909	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77767190	77767190	18223	8	C	A	A	A	299	23	ZFHX4	1	1
CA3	761	broad.mit.edu	37	8	86354332	86354332	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:86354332A>T	uc003ydj.2	+	c.263A>T	c.(262-264)TAC>TTC	p.Y88F	CA3_uc011lfv.1_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	88					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0														0.1875	25.471855	31.319701	12	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86354332	86354332	2633	8	A	T	T	T	182	14	CA3	3	3
CNGB3	54714	broad.mit.edu	37	8	87588160	87588161	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87588160_87588161GG>AT	uc003ydx.2	-	c.2301_2302CC>AT	c.(2299-2304)CCCCAC>CCATAC	p.H768Y	CNGB3_uc010maj.2_Missense_Mutation_p.H625Y	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	768	Cytoplasmic (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3														0.089888	2.335265	17.441018	8	81	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	87588160	87588161	3739	8	GG	AT	AT	AT	611	47	CNGB3	2	2
MMP16	4325	broad.mit.edu	37	8	89068467	89068467	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89068467G>T	uc003yeb.3	-	c.1262C>A	c.(1261-1263)CCT>CAT	p.P421H		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	421	Hemopexin-like 2.|Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	5														0.096154	3.848269	12.340472	5	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89068467	89068467	10045	8	G	T	T	T	455	35	MMP16	2	2
MMP16	4325	broad.mit.edu	37	8	89128926	89128926	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89128926G>T	uc003yeb.3	-	c.893C>A	c.(892-894)CCA>CAA	p.P298Q	MMP16_uc003yec.2_Missense_Mutation_p.P298Q	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	298	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	5														0.103774	7.423538	24.086902	11	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89128926	89128926	10045	8	G	T	T	T	611	47	MMP16	2	2
NECAB1	64168	broad.mit.edu	37	8	91963393	91963393	+	Silent	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:91963393T>C	uc011lgg.1	+	c.991T>C	c.(991-993)TTG>CTG	p.L331L	NECAB1_uc003yer.2_Silent_p.L80L	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	331					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)											0.121951	9.045579	14.784067	5	36	KEEP	---	---	---	---	capture		Silent	SNP	91963393	91963393	10703	8	T	C	C	C	725	56	NECAB1	4	4
CDH17	1015	broad.mit.edu	37	8	95189829	95189829	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95189829T>A	uc003ygh.2	-	c.271A>T	c.(271-273)ACT>TCT	p.T91S	CDH17_uc011lgo.1_Missense_Mutation_p.T91S|CDH17_uc011lgp.1_Missense_Mutation_p.T91S	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	91	Extracellular (Potential).|Cadherin 1.					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)											0.059322	-9.535988	14.420146	7	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95189829	95189829	3231	8	T	A	A	A	741	57	CDH17	3	3
KIAA1429	25962	broad.mit.edu	37	8	95524282	95524282	+	Silent	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95524282G>C	uc003ygo.1	-	c.2787C>G	c.(2785-2787)GGC>GGG	p.G929G	KIAA1429_uc003ygp.2_Silent_p.G929G|KIAA1429_uc010maz.1_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	929					mRNA processing|RNA splicing	nucleus				ovary(1)	1	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)											0.176471	6.412531	8.093072	3	14	KEEP	---	---	---	---	capture		Silent	SNP	95524282	95524282	8540	8	G	C	C	C	535	42	KIAA1429	3	3
KIAA1429	25962	broad.mit.edu	37	8	95539140	95539140	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95539140C>A	uc003ygo.1	-	c.1332G>T	c.(1330-1332)GCG>GCT	p.A444A	KIAA1429_uc003ygp.2_Silent_p.A444A|KIAA1429_uc010maz.1_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	444					mRNA processing|RNA splicing	nucleus				ovary(1)	1	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)											0.047619	-14.459204	8.383738	5	100	KEEP	---	---	---	---	capture		Silent	SNP	95539140	95539140	8540	8	C	A	A	A	340	27	KIAA1429	1	1
C8orf37	157657	broad.mit.edu	37	8	96281405	96281405	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:96281405G>T	uc003yho.1	-	c.13C>A	c.(13-15)CTG>ATG	p.L5M		NM_177965	NP_808880	Q96NL8	CH037_HUMAN	hypothetical protein LOC157657	5											0	Breast(36;3.41e-05)											OREG0018873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.046632	-24.352872	17.915069	9	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96281405	96281405	2533	8	G	T	T	T	451	35	C8orf37	2	2
MTDH	92140	broad.mit.edu	37	8	98656964	98656964	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:98656964G>T	uc003yhz.2	+	c.230G>T	c.(229-231)GGC>GTC	p.G77V		NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	metadherin	77	Interaction with BCCIP.|Cytoplasmic (Potential).				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			liver(1)|central_nervous_system(1)	2	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)											0.142857	4.618013	7.193408	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98656964	98656964	10310	8	G	T	T	T	546	42	MTDH	2	2
ZNF189	7743	broad.mit.edu	37	9	104170866	104170866	+	Silent	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104170866A>G	uc004bbh.1	+	c.816A>G	c.(814-816)AAA>AAG	p.K272K	ZNF189_uc004bbg.1_Silent_p.K230K|ZNF189_uc004bbi.1_Silent_p.K258K|ZNF189_uc011lvk.1_Silent_p.K257K	NM_003452	NP_003443	O75820	ZN189_HUMAN	zinc finger protein 189 isoform 1	272	C2H2-type 5.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6		Acute lymphoblastic leukemia(62;0.0559)												0.146154	38.542344	54.189491	19	111	KEEP	---	---	---	---	capture		Silent	SNP	104170866	104170866	18345	9	A	G	G	G	50	4	ZNF189	4	4
TLR4	7099	broad.mit.edu	37	9	120474985	120474985	+	Silent	SNP	A	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120474985A>C	uc004bjz.2	+	c.579A>C	c.(577-579)ACA>ACC	p.T193T	TLR4_uc004bka.2_Silent_p.T153T|TLR4_uc004bkb.2_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	193	Extracellular (Potential).|LRR 6.				activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.15	14.437046	21.485882	9	51	KEEP	---	---	---	---	capture		Silent	SNP	120474985	120474985	16483	9	A	C	C	C	80	7	TLR4	4	4
TLR4	7099	broad.mit.edu	37	9	120475619	120475619	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120475619G>A	uc004bjz.2	+	c.1213G>A	c.(1213-1215)GAT>AAT	p.D405N	TLR4_uc004bka.2_Missense_Mutation_p.D365N|TLR4_uc004bkb.2_Missense_Mutation_p.D205N	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	405	LRR 12.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.181818	16.670657	20.859022	8	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120475619	120475619	16483	9	G	A	A	A	429	33	TLR4	2	2
CDK5RAP2	55755	broad.mit.edu	37	9	123253727	123253727	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123253727C>G	uc004bkf.2	-	c.1340G>C	c.(1339-1341)CGC>CCC	p.R447P	CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R447P|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_Non-coding_Transcript|CDK5RAP2_uc011lxy.1_Non-coding_Transcript|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R447P|CDK5RAP2_uc004bki.2_Missense_Mutation_p.R246P	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	447					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|promoter binding			ovary(2)|lung(1)|skin(1)	4														0.078947	0.499422	7.375686	3	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123253727	123253727	3275	9	C	G	G	G	351	27	CDK5RAP2	3	3
OR1N2	138882	broad.mit.edu	37	9	125315694	125315694	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125315694C>A	uc011lyx.1	+	c.246C>A	c.(244-246)AAC>AAA	p.N82K		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	82	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.074468	-1.245734	16.225331	7	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125315694	125315694	11376	9	C	A	A	A	233	18	OR1N2	2	2
SPTAN1	6709	broad.mit.edu	37	9	131369914	131369914	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131369914G>T	uc004bvm.3	+	c.4078G>T	c.(4078-4080)GGG>TGG	p.G1360W	SPTAN1_uc004bvl.3_Missense_Mutation_p.G1360W|SPTAN1_uc004bvn.3_Missense_Mutation_p.G1340W	NM_001130438	NP_001123910	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1360	Spectrin 15.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						NSCLC(120;833 1744 2558 35612 37579)				1105				0.106796	4.695154	20.491159	11	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131369914	131369914	15631	9	G	T	T	T	559	43	SPTAN1	2	2
DOLPP1	57171	broad.mit.edu	37	9	131847036	131847036	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131847036G>T	uc004bxc.2	+	c.166G>T	c.(166-168)GAG>TAG	p.E56*	DOLPP1_uc004bxd.2_Nonsense_Mutation_p.E56*|DOLPP1_uc004bxe.2_Non-coding_Transcript|DOLPP1_uc004bxf.2_5'Flank	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	dolichyl pyrophosphate phosphatase 1 isoform a	56					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity				0														0.045918	-28.449516	14.675502	9	187	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	131847036	131847036	4888	9	G	T	T	T	533	41	DOLPP1	5	2
PPAPDC3	84814	broad.mit.edu	37	9	134165627	134165627	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:134165627C>A	uc004cal.2	+	c.243C>A	c.(241-243)GCC>GCA	p.A81A		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	81	interaction with MTOR (By similarity).|Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)										0.117647	11.92825	24.110038	10	75	KEEP	---	---	---	---	capture		Silent	SNP	134165627	134165627	12726	9	C	A	A	A	301	24	PPAPDC3	2	2
C9orf171	389799	broad.mit.edu	37	9	135357749	135357749	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135357749C>A	uc004cbn.2	+	c.248C>A	c.(247-249)GCG>GAG	p.A83E	C9orf171_uc004cbo.2_Intron	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	83										ovary(4)|large_intestine(1)	5														0.148148	12.290657	18.697514	8	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135357749	135357749	2585	9	C	A	A	A	351	27	C9orf171	1	1
BARHL1	56751	broad.mit.edu	37	9	135464640	135464640	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135464640G>A	uc004cbp.1	+	c.715G>A	c.(715-717)GTC>ATC	p.V239I		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	239					regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)										0.156522	29.388714	42.33426	18	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135464640	135464640	1334	9	G	A	A	A	520	40	BARHL1	1	1
SURF6	6838	broad.mit.edu	37	9	136198959	136198959	+	Nonsense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:136198959C>A	uc004cdb.3	-	c.832G>T	c.(832-834)GAG>TAG	p.E278*		NM_006753	NP_006744	O75683	SURF6_HUMAN	surfeit 6	278						granular component	DNA binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)										0.195122	28.85204	36.110944	16	66	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	136198959	136198959	15926	9	C	A	A	A	390	30	SURF6	5	2
FAM154A	158297	broad.mit.edu	37	9	18928669	18928669	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:18928669C>A	uc003zni.1	-	c.806G>T	c.(805-807)TGT>TTT	p.C269F	FAM154A_uc010mip.1_Missense_Mutation_p.C77F	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	269										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)										0.142857	11.92083	17.919719	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18928669	18928669	5661	9	C	A	A	A	221	17	FAM154A	2	2
MLLT3	4300	broad.mit.edu	37	9	20414102	20414102	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:20414102C>T	uc003zoe.2	-	c.742G>A	c.(742-744)GTT>ATT	p.V248I	MLLT3_uc011lne.1_Missense_Mutation_p.V216I|MLLT3_uc011lnf.1_Missense_Mutation_p.V245I|MLLT3_uc003zof.2_Missense_Mutation_p.V49I	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)|lung(1)	2				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)						216				0.096639	13.29371	52.109432	23	215	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20414102	20414102	10018	9	C	T	T	T	260	20	MLLT3	2	2
KIAA1797	54914	broad.mit.edu	37	9	20820325	20820325	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:20820325G>T	uc003zog.1	+	c.1563G>T	c.(1561-1563)GTG>GTT	p.V521V	KIAA1797_uc003zoh.1_5'UTR	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	521						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)										0.183333	24.019303	29.643832	11	49	KEEP	---	---	---	---	capture		Silent	SNP	20820325	20820325	8569	9	G	T	T	T	613	48	KIAA1797	2	2
IFNA6	3443	broad.mit.edu	37	9	21350457	21350457	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21350457T>C	uc011lni.1	-	c.430A>G	c.(430-432)AGA>GGA	p.R144G		NM_021002	NP_066282	P05013	IFNA6_HUMAN	interferon, alpha 6 precursor	144					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)										0.054945	-19.287517	18.780974	10	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21350457	21350457	7842	9	T	C	C	C	700	54	IFNA6	4	4
RFX3	5991	broad.mit.edu	37	9	3257050	3257050	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:3257050T>A	uc003zhr.2	-	c.1755A>T	c.(1753-1755)GAA>GAT	p.E585D	RFX3_uc010mhd.2_Missense_Mutation_p.E585D|RFX3_uc003zhs.1_Missense_Mutation_p.E585D	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	585					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin|transcription factor complex	promoter binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription activator activity|transcription repressor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)										0.155172	31.468585	44.657808	18	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3257050	3257050	13736	9	T	A	A	A	725	56	RFX3	3	3
TAF1L	138474	broad.mit.edu	37	9	32633177	32633178	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32633177_32633178CC>AA	uc003zrg.1	-	c.2400_2401GG>TT	c.(2398-2403)GTGGTT>GTTTTT	p.V801F		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	801					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				0.08642	3.497821	17.498196	7	74	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	32633177	32633178	16044	9	CC	AA	AA	AA	234	18	TAF1L	2	2
TAF1L	138474	broad.mit.edu	37	9	32633194	32633194	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32633194A>G	uc003zrg.1	-	c.2384T>C	c.(2383-2385)TTA>TCA	p.L795S		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	795					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				0.075949	-1.92419	12.722536	6	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32633194	32633194	16044	9	A	G	G	G	169	13	TAF1L	4	4
FANCG	2189	broad.mit.edu	37	9	35074929	35074929	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35074929C>A	uc003zwb.1	-	c.1631G>T	c.(1630-1632)TGC>TTC	p.C544F	VCP_uc003zvy.2_5'Flank|VCP_uc003zvz.2_5'Flank|VCP_uc010mkh.1_5'Flank|VCP_uc010mki.1_5'Flank|FANCG_uc003zwa.1_Missense_Mutation_p.C286F|FANCG_uc010mkj.1_Missense_Mutation_p.C286F	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	544	TPR 4.				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|large_intestine(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)							126				0.228571	38.284605	43.000895	16	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35074929	35074929	5904	9	C	A	A	A	325	25	FANCG	2	2
PAX5	5079	broad.mit.edu	37	9	36966657	36966657	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:36966657C>A	uc003zzo.1	-	c.669G>T	c.(667-669)CAG>CAT	p.Q223H	PAX5_uc011lpt.1_5'UTR|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Missense_Mutation_p.Q223H|PAX5_uc011lpx.1_Missense_Mutation_p.Q157H|PAX5_uc011lpy.1_Missense_Mutation_p.Q115H|PAX5_uc010mls.1_Missense_Mutation_p.Q223H|PAX5_uc011lpz.1_Missense_Mutation_p.Q180H|PAX5_uc011lqa.1_Missense_Mutation_p.Q115H|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.Q223H|PAX5_uc010mlp.1_Missense_Mutation_p.Q223H|PAX5_uc011lqc.1_Missense_Mutation_p.Q180H|PAX5_uc010mlr.1_Missense_Mutation_p.Q223H	NM_016734	NP_057953	Q02548	PAX5_HUMAN	paired box 5	223					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	haematopoietic_and_lymphoid_tissue(139)|central_nervous_system(2)	141		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)						323				0.073171	-1.004942	6.673009	3	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36966657	36966657	11902	9	C	A	A	A	415	32	PAX5	2	2
KDM4C	23081	broad.mit.edu	37	9	6984176	6984176	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6984176G>T	uc003zkh.2	+	c.1126G>T	c.(1126-1128)GCT>TCT	p.A376S	KDM4C_uc010mhu.2_Missense_Mutation_p.A398S|KDM4C_uc011lmi.1_Missense_Mutation_p.A376S|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.2_Missense_Mutation_p.A376S|KDM4C_uc011lmk.1_Missense_Mutation_p.A195S|KDM4C_uc011lml.1_Missense_Mutation_p.A63S	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	376					oxidation-reduction process|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1														0.082192	-0.892597	12.068558	6	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6984176	6984176	8436	9	G	T	T	T	598	46	KDM4C	2	2
RORB	6096	broad.mit.edu	37	9	77275592	77275592	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77275592G>T	uc004aji.2	+	c.730G>T	c.(730-732)GAG>TAG	p.E244*	RORB_uc004ajh.2_Nonsense_Mutation_p.E233*	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	244	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of gene-specific transcription|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)	3														0.076923	-3.140921	13.538357	7	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77275592	77275592	14008	9	G	T	T	T	429	33	RORB	5	2
TRPM6	140803	broad.mit.edu	37	9	77397635	77397635	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77397635G>T	uc004ajl.1	-	c.3054C>A	c.(3052-3054)TAC>TAA	p.Y1018*	TRPM6_uc004ajk.1_Nonsense_Mutation_p.Y1013*|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Nonsense_Mutation_p.Y304*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1018					protein phosphorylation|response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4										879				0.133333	11.756644	19.589245	8	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77397635	77397635	17141	9	G	T	T	T	464	36	TRPM6	5	2
FLJ46321	389763	broad.mit.edu	37	9	84609145	84609145	+	Missense_Mutation	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84609145G>A	uc004amn.2	+	c.3760G>A	c.(3760-3762)GTG>ATG	p.V1254M		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1254						integral to membrane					0														0.261538	81.007446	87.691541	34	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84609145	84609145	6174	9	G	A	A	A	572	44	FLJ46321	2	2
DMRT1	1761	broad.mit.edu	37	9	847037	847037	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:847037G>C	uc003zgv.2	+	c.432G>C	c.(430-432)GAG>GAC	p.E144D	DMRT1_uc003zgu.1_Missense_Mutation_p.E144D	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor	144					cell differentiation|male gonad development|regulation of transcription, DNA-dependent|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)										0.080645	0.723304	11.86207	5	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	847037	847037	4765	9	G	C	C	C	438	34	DMRT1	3	3
PTPRD	5789	broad.mit.edu	37	9	8528611	8528611	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8528611C>A	uc003zkk.2	-	c.521G>T	c.(520-522)CGT>CTT	p.R174L	PTPRD_uc003zkp.2_Missense_Mutation_p.R174L|PTPRD_uc003zkq.2_Missense_Mutation_p.R174L|PTPRD_uc003zkr.2_Missense_Mutation_p.R174L|PTPRD_uc003zks.2_Missense_Mutation_p.R174L|PTPRD_uc003zkl.2_Missense_Mutation_p.R174L|PTPRD_uc003zkm.2_Missense_Mutation_p.R174L|PTPRD_uc003zkn.2_Missense_Mutation_p.R174L|PTPRD_uc003zko.2_Missense_Mutation_p.R174L|PTPRD_uc003zkt.1_Missense_Mutation_p.R174L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	174	Extracellular (Potential).|Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(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)			0.081081	1.973683	21.741768	9	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8528611	8528611	13256	9	C	A	A	A	247	19	PTPRD	1	1
SECISBP2	79048	broad.mit.edu	37	9	91943769	91943769	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:91943769G>C	uc004aqj.1	+	c.769G>C	c.(769-771)GAA>CAA	p.E257Q	SECISBP2_uc010mqn.1_Missense_Mutation_p.E257Q|SECISBP2_uc004aqi.1_Missense_Mutation_p.E184Q|SECISBP2_uc011ltk.1_Missense_Mutation_p.E256Q|SECISBP2_uc004aqk.1_Missense_Mutation_p.E184Q|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc011ltl.1_Missense_Mutation_p.E189Q	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	257					translation	nucleus	mRNA 3'-UTR binding			ovary(2)	2														0.114286	7.273292	12.406984	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91943769	91943769	14492	9	G	C	C	C	429	33	SECISBP2	3	3
SPTLC1	10558	broad.mit.edu	37	9	94821469	94821469	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:94821469C>T	uc004arl.1	-	c.682G>A	c.(682-684)GAT>AAT	p.D228N	SPTLC1_uc011ltv.1_Missense_Mutation_p.D228N|SPTLC1_uc004arm.1_Missense_Mutation_p.D228N	NM_006415	NP_006406	O15269	SPTC1_HUMAN	serine palmitoyltransferase subunit 1 isoform a	228	Cytoplasmic (Potential).					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			ovary(1)|breast(1)	2					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)									0.173913	9.285308	11.593761	4	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94821469	94821469	15637	9	C	T	T	T	416	32	SPTLC1	2	2
CENPP	401541	broad.mit.edu	37	9	95099903	95099903	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95099903G>T	uc004arz.2	+	c.370G>T	c.(370-372)GAA>TAA	p.E124*	CENPP_uc010mqx.2_Nonsense_Mutation_p.E12*|CENPP_uc004ary.1_Nonsense_Mutation_p.E124*	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN	centromere protein P	124					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				ovary(2)	2										10				0.207317	35.318756	41.855188	17	65	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	95099903	95099903	3373	9	G	T	T	T	533	41	CENPP	5	2
ZNF169	169841	broad.mit.edu	37	9	97062215	97062215	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:97062215A>T	uc004aum.1	+	c.375A>T	c.(373-375)GCA>GCT	p.A125A		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	125					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)												0.114286	4.978583	10.108556	4	31	KEEP	---	---	---	---	capture		Silent	SNP	97062215	97062215	18333	9	A	T	T	T	80	7	ZNF169	3	3
DMRT3	58524	broad.mit.edu	37	9	990523	990523	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:990523A>G	uc003zgw.1	+	c.937A>G	c.(937-939)ATC>GTC	p.I313V		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	313					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)										0.061538	-5.447485	7.59732	4	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	990523	990523	4767	9	A	G	G	G	104	8	DMRT3	4	4
ZMAT1	84460	broad.mit.edu	37	X	101138771	101138771	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101138771C>A	uc011mrl.1	-	c.1628G>T	c.(1627-1629)CGA>CTA	p.R543L	ZMAT1_uc004eim.2_Missense_Mutation_p.R372L|ZMAT1_uc004ein.2_Missense_Mutation_p.R372L|ZMAT1_uc011mrm.1_Missense_Mutation_p.R372L	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin type 1 isoform 1	372						nucleus	zinc ion binding			ovary(1)	1														0.145833	13.041109	18.790281	7	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101138771	101138771	18282	23	C	A	A	A	403	31	ZMAT1	1	1
TCEAL8	90843	broad.mit.edu	37	X	102508698	102508698	+	Missense_Mutation	SNP	C	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102508698C>G	uc004ejx.2	-	c.210G>C	c.(208-210)TTG>TTC	p.L70F	TCEAL8_uc004ejy.2_Missense_Mutation_p.L70F	NM_153333	NP_699164	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1														0.2	31.622081	37.474302	14	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102508698	102508698	16203	23	C	G	G	G	272	21	TCEAL8	3	3
PLP1	5354	broad.mit.edu	37	X	103041621	103041621	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:103041621A>G	uc010nov.2	+	c.419A>G	c.(418-420)CAT>CGT	p.H140R	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.H140R|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Missense_Mutation_p.H85R|PLP1_uc010now.1_Missense_Mutation_p.H144R|PLP1_uc010nox.2_Missense_Mutation_p.H94R	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1	140	Cytoplasmic (Probable).		H -> Y (in SPG2).|Missing (in HLD1).	H -> T (in Ref. 7; AAA60117).	cell death|synaptic transmission	integral to membrane				ovary(1)	1														0.119403	11.05527	20.579402	8	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103041621	103041621	12530	23	A	G	G	G	104	8	PLP1	4	4
VSIG1	340547	broad.mit.edu	37	X	107315961	107315961	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107315961C>A	uc011msk.1	+	c.575C>A	c.(574-576)ACT>AAT	p.T192N	VSIG1_uc004eno.2_Missense_Mutation_p.T156N	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	156	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane				ovary(1)	1														0.134328	14.229665	22.917651	9	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107315961	107315961	17789	23	C	A	A	A	260	20	VSIG1	2	2
GUCY2F	2986	broad.mit.edu	37	X	108631743	108631743	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:108631743G>T	uc004eod.3	-	c.2931C>A	c.(2929-2931)GTC>GTA	p.V977V	GUCY2F_uc011msq.1_Non-coding_Transcript	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	977	Guanylate cyclase.|Cytoplasmic (Potential).				intracellular signal transduction|protein phosphorylation|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8										308				0.205128	32.868302	39.153045	16	62	KEEP	---	---	---	---	capture		Silent	SNP	108631743	108631743	7178	23	G	T	T	T	522	41	GUCY2F	2	2
CAPN6	827	broad.mit.edu	37	X	110494471	110494471	+	Missense_Mutation	SNP	G	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110494471G>C	uc004epc.1	-	c.937C>G	c.(937-939)CTG>GTG	p.L313V	CAPN6_uc011msu.1_Missense_Mutation_p.L58V	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	313	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6														0.133333	5.279398	9.194448	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110494471	110494471	2748	23	G	C	C	C	451	35	CAPN6	3	3
TRPC5	7224	broad.mit.edu	37	X	111155830	111155830	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111155830G>A	uc004epl.1	-	c.589C>T	c.(589-591)CTG>TTG	p.L197L	TRPC5_uc004epm.1_Silent_p.L197L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	197	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1														0.264706	43.274723	46.718578	18	50	KEEP	---	---	---	---	capture		Silent	SNP	111155830	111155830	17133	23	G	A	A	A	464	36	TRPC5	2	2
AMELX	265	broad.mit.edu	37	X	11316810	11316810	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:11316810C>T	uc004cus.2	+	c.329C>T	c.(328-330)CCC>CTC	p.P110L	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.2_Missense_Mutation_p.P96L|AMELX_uc004cuu.2_Missense_Mutation_p.P80L	NM_182680	NP_872621	Q99217	AMELX_HUMAN	amelogenin (X chromosome) isoform 3 precursor	96					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	extracellular matrix part|proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel				0														0.053571	-5.109401	6.654204	3	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11316810	11316810	572	23	C	T	T	T	286	22	AMELX	2	2
HTR2C	3358	broad.mit.edu	37	X	114141823	114141823	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:114141823G>T	uc004epu.1	+	c.1222G>T	c.(1222-1224)GGG>TGG	p.G408W	HTR2C_uc010nqc.1_Missense_Mutation_p.G408W|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	408	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|serotonin receptor signaling pathway|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)									0.18	19.7456	24.559727	9	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114141823	114141823	7743	23	G	T	T	T	611	47	HTR2C	2	2
TLR7	51284	broad.mit.edu	37	X	12905856	12905856	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:12905856A>T	uc004cvc.2	+	c.2229A>T	c.(2227-2229)CTA>CTT	p.L743L		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	743	LRR 25.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of inflammatory response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(1)	1					Imiquimod(DB00724)					69				0.108108	3.483917	9.108571	4	33	KEEP	---	---	---	---	capture		Silent	SNP	12905856	12905856	16486	23	A	T	T	T	171	14	TLR7	3	3
BCORL1	63035	broad.mit.edu	37	X	129147031	129147031	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129147031C>T	uc004evb.1	+	c.283C>T	c.(283-285)CCC>TCC	p.P95S	BCORL1_uc010nrd.1_5'UTR	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	95					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7														0.129032	5.077437	9.233938	4	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129147031	129147031	1408	23	C	T	T	T	390	30	BCORL1	2	2
TLR8	51311	broad.mit.edu	37	X	12940186	12940186	+	Silent	SNP	G	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:12940186G>A	uc004cvd.2	+	c.3081G>A	c.(3079-3081)AAG>AAA	p.K1027K	TLR8_uc004cve.2_Silent_p.K1009K	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	1009	Cytoplasmic (Potential).|TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane|integral to membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|large_intestine(1)	5														0.169811	15.399977	20.967968	9	44	KEEP	---	---	---	---	capture		Silent	SNP	12940186	12940186	16487	23	G	A	A	A	451	35	TLR8	2	2
ARHGAP36	158763	broad.mit.edu	37	X	130219600	130219600	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130219600C>A	uc004evz.2	+	c.994C>A	c.(994-996)CTG>ATG	p.L332M	ARHGAP36_uc004ewa.2_Missense_Mutation_p.L320M|ARHGAP36_uc004ewb.2_Missense_Mutation_p.L301M|ARHGAP36_uc004ewc.2_Missense_Mutation_p.L196M	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	332	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3														0.121429	18.408895	38.051035	17	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130219600	130219600	895	23	C	A	A	A	363	28	ARHGAP36	2	2
SLC9A6	10479	broad.mit.edu	37	X	135098852	135098852	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135098852A>G	uc004ezk.2	+	c.1285A>G	c.(1285-1287)ATG>GTG	p.M429V	SLC9A6_uc004ezj.2_Missense_Mutation_p.M397V	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	397	Helical; (Potential).				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.125	4.376977	8.779826	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135098852	135098852	15215	23	A	G	G	G	104	8	SLC9A6	4	4
GPR112	139378	broad.mit.edu	37	X	135405537	135405537	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135405537G>T	uc004ezu.1	+	c.671G>T	c.(670-672)AGG>ATG	p.R224M	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	224	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				0.142857	7.851336	12.153727	5	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135405537	135405537	6903	23	G	T	T	T	455	35	GPR112	2	2
GPR112	139378	broad.mit.edu	37	X	135431491	135431491	+	Nonsense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135431491C>T	uc004ezu.1	+	c.5626C>T	c.(5626-5628)CAA>TAA	p.Q1876*	GPR112_uc010nsb.1_Nonsense_Mutation_p.Q1671*|GPR112_uc010nsc.1_Nonsense_Mutation_p.Q1643*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1876	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				0.183673	17.93207	22.557319	9	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	135431491	135431491	6903	23	C	T	T	T	273	21	GPR112	5	2
EGFL6	25975	broad.mit.edu	37	X	13641992	13641992	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:13641992G>T	uc004cvj.2	+	c.1236G>T	c.(1234-1236)TGG>TGT	p.W412C	EGFL6_uc004cvi.2_Missense_Mutation_p.W411C	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	411	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2														0.125	5.486102	9.875135	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13641992	13641992	5152	23	G	T	T	T	533	41	EGFL6	2	2
MAGEC3	139081	broad.mit.edu	37	X	140983191	140983192	+	Missense_Mutation	DNP	AA	TT	TT			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140983191_140983192AA>TT	uc011mwp.1	+	c.1046_1047AA>TT	c.(1045-1047)CAA>CTT	p.Q349L	MAGEC3_uc004fbs.2_5'UTR|MAGEC3_uc010nsj.2_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	349	MAGE 1.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.2	22.951841	26.716172	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	140983191	140983192	9563	23	AA	TT	TT	TT	65	5	MAGEC3	3	3
GLRA2	2742	broad.mit.edu	37	X	14625379	14625379	+	Missense_Mutation	SNP	A	G	G			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:14625379A>G	uc010nep.2	+	c.704A>G	c.(703-705)CAC>CGC	p.H235R	GLRA2_uc010neq.2_Missense_Mutation_p.H235R|GLRA2_uc004cwe.3_Missense_Mutation_p.H235R|GLRA2_uc011mio.1_Missense_Mutation_p.H146R|GLRA2_uc011mip.1_Missense_Mutation_p.H213R	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	235	Extracellular (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)									0.172414	9.463221	12.399946	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14625379	14625379	6723	23	A	G	G	G	78	6	GLRA2	4	4
MAMLD1	10046	broad.mit.edu	37	X	149638713	149638713	+	Missense_Mutation	SNP	C	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149638713C>T	uc004fee.1	+	c.868C>T	c.(868-870)CCT>TCT	p.P290S	MAMLD1_uc011mxt.1_Missense_Mutation_p.P252S|MAMLD1_uc011mxu.1_Missense_Mutation_p.P265S|MAMLD1_uc011mxv.1_Missense_Mutation_p.P265S|MAMLD1_uc011mxw.1_Missense_Mutation_p.P217S	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	290					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)													0.170213	12.826649	17.777285	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149638713	149638713	9591	23	C	T	T	T	286	22	MAMLD1	2	2
PLXNB3	5365	broad.mit.edu	37	X	153041515	153041515	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153041515G>T	uc010nuk.2	+	c.4644G>T	c.(4642-4644)GGG>GGT	p.G1548G	PLXNB3_uc004fii.2_Silent_p.G1525G|PLXNB3_uc011mzd.1_Silent_p.G1164G|SRPK3_uc004fik.2_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 2	1525	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)													0.8	13.606151	14.021239	4	1	KEEP	---	---	---	---	capture		Silent	SNP	153041515	153041515	12551	23	G	T	T	T	548	43	PLXNB3	2	2
PDZD4	57595	broad.mit.edu	37	X	153070179	153070179	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153070179G>T	uc004fja.1	-	c.957C>A	c.(955-957)CGC>CGA	p.R319R	PDZD4_uc004fiy.1_Silent_p.R238R|PDZD4_uc004fiz.1_Silent_p.R313R|PDZD4_uc004fix.2_Silent_p.R217R|PDZD4_uc011mze.1_Silent_p.R204R	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	313						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.277778	13.868772	14.667587	5	13	KEEP	---	---	---	---	capture		Silent	SNP	153070179	153070179	12124	23	G	T	T	T	587	46	PDZD4	2	2
ASMT	438	broad.mit.edu	37	X	1748721	1748721	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1748721G>T	uc004cqd.2	+	c.451G>T	c.(451-453)GGC>TGC	p.G151C	ASMT_uc010ncy.2_Missense_Mutation_p.G151C|ASMT_uc004cqe.2_Missense_Mutation_p.G151C	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	151					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		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)												0.125	10.865428	22.975853	11	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1748721	1748721	1064	23	G	T	T	T	559	43	ASMT	2	2
EIF1AX	1964	broad.mit.edu	37	X	20156717	20156717	+	Missense_Mutation	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:20156717T>A	uc004czt.2	-	c.40A>T	c.(40-42)AGG>TGG	p.R14W	SCARNA9L_uc010nfp.2_5'Flank	NM_001412	NP_001403	P47813	IF1AX_HUMAN	X-linked eukaryotic translation initiation	14						cytosol	translation initiation factor activity			ovary(1)	1														0.190476	18.075874	21.837069	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20156717	20156717	5181	23	T	A	A	A	713	55	EIF1AX	3	3
ZBED1	9189	broad.mit.edu	37	X	2407023	2407023	+	Missense_Mutation	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:2407023C>A	uc004cqg.2	-	c.1738G>T	c.(1738-1740)GTG>TTG	p.V580L	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.V580L	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	580						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.1	3.942049	11.929667	5	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2407023	2407023	18101	23	C	A	A	A	234	18	ZBED1	2	2
MXRA5	25878	broad.mit.edu	37	X	3239784	3239784	+	Silent	SNP	T	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3239784T>A	uc004crg.3	-	c.3942A>T	c.(3940-3942)CCA>CCT	p.P1314P		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1314						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.211538	27.197604	31.197275	11	41	KEEP	---	---	---	---	capture		Silent	SNP	3239784	3239784	10397	23	T	A	A	A	704	55	MXRA5	3	3
DMD	1756	broad.mit.edu	37	X	32862918	32862918	+	Silent	SNP	C	A	A			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32862918C>A	uc004dda.1	-	c.246G>T	c.(244-246)CGG>CGT	p.R82R	DMD_uc004dcz.2_5'UTR|DMD_uc004dcy.1_Silent_p.R78R|DMD_uc004ddb.1_Silent_p.R74R|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Silent_p.R74R|DMD_uc010ngq.1_Non-coding_Transcript|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	82	CH 1.|Actin-binding.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)												0.210526	9.406904	10.867023	4	15	KEEP	---	---	---	---	capture		Silent	SNP	32862918	32862918	4760	23	C	A	A	A	275	22	DMD	2	2
FAM47C	442444	broad.mit.edu	37	X	37027104	37027104	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37027104G>T	uc004ddl.1	+	c.621G>T	c.(619-621)GTG>GTT	p.V207V		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	207										ovary(3)	3														0.115385	3.228332	6.99776	3	23	KEEP	---	---	---	---	capture		Silent	SNP	37027104	37027104	5792	23	G	T	T	T	613	48	FAM47C	2	2
PRRG1	5638	broad.mit.edu	37	X	37312649	37312649	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37312649G>T	uc004ddn.2	+	c.432G>T	c.(430-432)TTG>TTT	p.L144F	PRRG1_uc004ddo.2_Missense_Mutation_p.L144F	NM_000950	NP_000941	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	144	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	calcium ion binding			ovary(1)|breast(1)	2														0.342857	34.789038	35.55275	12	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37312649	37312649	13054	23	G	T	T	T	620	48	PRRG1	2	2
NYX	60506	broad.mit.edu	37	X	41333679	41333679	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:41333679G>T	uc004dfh.2	+	c.973G>T	c.(973-975)GGC>TGC	p.G325C	NYX_uc011mku.1_Missense_Mutation_p.G320C	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	nyctalopin precursor	325					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				lung(2)	2														0.142857	5.911306	8.49166	3	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41333679	41333679	11202	23	G	T	T	T	507	39	NYX	1	1
CCNB3	85417	broad.mit.edu	37	X	50094330	50094330	+	Missense_Mutation	SNP	T	C	C			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50094330T>C	uc004dox.3	+	c.4051T>C	c.(4051-4053)TAC>CAC	p.Y1351H	CCNB3_uc004doy.2_Missense_Mutation_p.Y1351H|CCNB3_uc004doz.2_Missense_Mutation_p.Y247H|CCNB3_uc010njq.2_Missense_Mutation_p.Y243H|CCNB3_uc004dpa.2_Missense_Mutation_p.Y190H	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1351					cell division|meiosis	nucleus				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)													0.093333	4.269134	16.749913	7	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50094330	50094330	3041	23	T	C	C	C	793	61	CCNB3	4	4
VSIG4	11326	broad.mit.edu	37	X	65253608	65253608	+	Silent	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65253608G>T	uc004dwh.2	-	c.120C>A	c.(118-120)CCC>CCA	p.P40P	VSIG4_uc004dwi.2_Silent_p.P40P|VSIG4_uc010nkq.1_Silent_p.P40P|VSIG4_uc004dwj.2_Silent_p.P40P|VSIG4_uc011moy.1_Silent_p.P40P|VSIG4_uc004dwk.2_Silent_p.P40P|VSIG4_uc004dwl.2_De_novo_Start_OutOfFrame	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	40	Ig-like 1.|Extracellular (Potential).				complement activation, alternative pathway	integral to membrane	protein binding				0														0.275862	20.986484	22.298846	8	21	KEEP	---	---	---	---	capture		Silent	SNP	65253608	65253608	17793	23	G	T	T	T	444	35	VSIG4	2	2
KIF4A	24137	broad.mit.edu	37	X	69623846	69623846	+	Missense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69623846G>T	uc004dyg.2	+	c.2752G>T	c.(2752-2754)GCT>TCT	p.A918S	KIF4A_uc010nkw.2_Missense_Mutation_p.A918S	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	918	Potential.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4														0.333333	11.596081	11.891248	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69623846	69623846	8614	23	G	T	T	T	442	34	KIF4A	2	2
KIAA2022	340533	broad.mit.edu	37	X	73961230	73961230	+	Missense_Mutation	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73961230A>T	uc004eby.2	-	c.3162T>A	c.(3160-3162)GAT>GAA	p.D1054E		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1054					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|central_nervous_system(1)	14										126				0.088889	2.591402	10.250422	4	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73961230	73961230	8580	23	A	T	T	T	206	16	KIAA2022	3	3
TGIF2LX	90316	broad.mit.edu	37	X	89177796	89177796	+	Nonsense_Mutation	SNP	G	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:89177796G>T	uc004efe.2	+	c.712G>T	c.(712-714)GAG>TAG	p.E238*		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	238					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.153846	5.67877	8.666112	4	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	89177796	89177796	16355	23	G	T	T	T	429	33	TGIF2LX	5	2
PCDH11X	27328	broad.mit.edu	37	X	91134011	91134011	+	Silent	SNP	A	T	T			TCGA-50-5049-01	TCGA-50-5049-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91134011A>T	uc004efk.1	+	c.2772A>T	c.(2770-2772)ACA>ACT	p.T924T	PCDH11X_uc004efl.1_Silent_p.T924T|PCDH11X_uc004efo.1_Silent_p.T924T|PCDH11X_uc010nmv.1_Silent_p.T924T|PCDH11X_uc004efm.1_Silent_p.T924T|PCDH11X_uc004efn.1_Silent_p.T924T|PCDH11X_uc004efh.1_Silent_p.T924T|PCDH11X_uc004efj.1_Silent_p.T924T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	924	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.298507	57.666391	60.104481	20	47	KEEP	---	---	---	---	capture		Silent	SNP	91134011	91134011	11928	23	A	T	T	T	67	6	PCDH11X	3	3
