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
CNNM1	26507	broad.mit.edu	37	10	101136906	101136907	+	Nonsense_Mutation	DNP	CA	AG	AG			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101136906_101136907CA>AG	uc010qpi.1	+	c.2334_2335CA>AG	c.(2332-2337)TACAGC>TAAGGC	p.778_779YS>*G	CNNM1_uc001kpp.3_Nonsense_Mutation_p.757_758YS>*G|CNNM1_uc009xwf.2_Nonsense_Mutation_p.757_758YS>*G|CNNM1_uc009xwg.2_Nonsense_Mutation_p.157_158YS>*G	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	757_758					ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)										0.842105	112.522036	116.76458	32	6	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	101136906	101136907	3750	10	CA	AG	AG	AG	220	17	CNNM1	5	2
NKX2-3	159296	broad.mit.edu	37	10	101294877	101294877	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101294877G>A	uc009xwj.2	+	c.494G>A	c.(493-495)CGC>CAC	p.R165H		NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	165	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		Pancreas(173;2021 2035 19403 19989 27291)								0.138889	7.152657	11.689563	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101294877	101294877	10853	10	G	A	A	A	494	38	NKX2-3	1	1
SLC25A28	81894	broad.mit.edu	37	10	101373554	101373554	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101373554C>A	uc001kpx.2	-	c.419G>T	c.(418-420)GGC>GTC	p.G140V	SLC25A28_uc001kpy.2_5'UTR|SLC25A28_uc009xwk.1_Missense_Mutation_p.G140V	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	solute carrier family 25, member 28	140	Helical; Name=2; (Potential).|Solcar 1.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)										0.392157	56.520298	57.028585	20	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101373554	101373554	14988	10	C	A	A	A	338	26	SLC25A28	2	2
CUTC	51076	broad.mit.edu	37	10	101502997	101502997	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101502997G>T	uc001kqd.3	+	c.281G>T	c.(280-282)CGT>CTT	p.R94L	CUTC_uc010qpk.1_Missense_Mutation_p.R94L|CUTC_uc001kqe.3_Non-coding_Transcript	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	cutC copper transporter homolog	94					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)										0.388889	86.889299	87.666015	28	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101502997	101502997	4223	10	G	T	T	T	520	40	CUTC	1	1
CPN1	1369	broad.mit.edu	37	10	101808580	101808580	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101808580C>A	uc001kql.2	-	c.1165G>T	c.(1165-1167)GCC>TCC	p.A389S		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	389					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)										0.92638	499.2224	527.64041	151	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101808580	101808580	3947	10	C	A	A	A	325	25	CPN1	2	2
WNT8B	7479	broad.mit.edu	37	10	102242450	102242450	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102242450C>A	uc001krb.2	+	c.933C>A	c.(931-933)TGC>TGA	p.C311*		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family,	311					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|skin(1)	2		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)								OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.333333	14.375786	14.741909	5	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	102242450	102242450	17971	10	C	A	A	A	324	25	WNT8B	5	2
LBX1	10660	broad.mit.edu	37	10	102987515	102987515	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102987515G>T	uc001ksx.2	-	c.358C>A	c.(358-360)CAG>AAG	p.Q120K		NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	120					muscle organ development		sequence-specific DNA binding|transcription regulator activity				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)										1	117.857786	117.857786	32	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102987515	102987515	8976	10	G	T	T	T	598	46	LBX1	2	2
BTRC	8945	broad.mit.edu	37	10	103294633	103294633	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103294633A>T	uc001kta.2	+	c.1313A>T	c.(1312-1314)TAC>TTC	p.Y438F	BTRC_uc001ktb.2_Missense_Mutation_p.Y402F|BTRC_uc001ktc.2_Missense_Mutation_p.Y412F	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	438	WD 4.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of gene-specific transcription|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex	specific transcriptional repressor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)						243				0.456376	203.978463	204.225614	68	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103294633	103294633	1603	10	A	T	T	T	182	14	BTRC	3	3
DPCD	25911	broad.mit.edu	37	10	103348126	103348126	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:103348126G>T	uc001ktn.2	+	c.33G>T	c.(31-33)CGG>CGT	p.R11R	DPCD_uc010qpz.1_Silent_p.R181R|POLL_uc001ktg.1_5'Flank|POLL_uc001kth.1_5'Flank|POLL_uc001kti.1_5'Flank|POLL_uc001ktj.1_5'Flank|POLL_uc001ktf.2_5'Flank|POLL_uc001ktk.1_5'Flank|POLL_uc010qqa.1_5'Flank|POLL_uc010qqb.1_5'Flank|POLL_uc001ktm.2_5'Flank|POLL_uc001ktl.2_5'Flank|POLL_uc010qqc.1_5'Flank|POLL_uc010qqd.1_5'Flank	NM_015448	NP_056263	Q9BVM2	DPCD_HUMAN	DPCD protein	11							protein binding				0														1	23.44148	23.433661	7	0	KEEP	---	---	---	---	capture		Silent	SNP	103348126	103348126	4895	10	G	T	T	T	522	41	DPCD	2	2
CNNM2	54805	broad.mit.edu	37	10	104679104	104679104	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:104679104C>T	uc001kwm.2	+	c.867C>T	c.(865-867)ATC>ATT	p.I289I	CNNM2_uc001kwn.2_Silent_p.I289I|CNNM2_uc001kwl.2_Silent_p.I289I	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	289					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)										0.433333	39.772877	39.888581	13	17	KEEP	---	---	---	---	capture		Silent	SNP	104679104	104679104	3751	10	C	T	T	T	395	31	CNNM2	1	1
PDCD11	22984	broad.mit.edu	37	10	105198552	105198552	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105198552G>C	uc001kwy.1	+	c.4012G>C	c.(4012-4014)GGT>CGT	p.G1338R		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	1338	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)						545				0.333333	36.046236	37.074389	14	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105198552	105198552	12038	10	G	C	C	C	507	39	PDCD11	3	3
CALHM2	51063	broad.mit.edu	37	10	105209246	105209246	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105209246G>T	uc001kwz.2	-	c.453C>A	c.(451-453)GCC>GCA	p.A151A	CALHM2_uc001kxa.2_Silent_p.A151A|CALHM2_uc001kxc.2_Silent_p.A151A|CALHM2_uc001kxb.2_Silent_p.A151A|CALHM2_uc001kxd.1_Silent_p.A151A	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	151						integral to membrane					0														0.37931	61.030043	61.772958	22	36	KEEP	---	---	---	---	capture		Silent	SNP	105209246	105209246	2699	10	G	T	T	T	548	43	CALHM2	2	2
SH3PXD2A	9644	broad.mit.edu	37	10	105372657	105372657	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105372657T>A	uc001kxj.1	-	c.1127A>T	c.(1126-1128)CAG>CTG	p.Q376L	SH3PXD2A_uc010qqr.1_Missense_Mutation_p.Q266L|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.Q211L|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.Q253L|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.Q211L|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.Q319L	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	SH3 multiple domains 1	404					cell communication	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding				0		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)										0.923077	37.179405	38.767518	12	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105372657	105372657	14748	10	T	A	A	A	715	55	SH3PXD2A	3	3
COL17A1	1308	broad.mit.edu	37	10	105799241	105799241	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105799241G>C	uc001kxr.2	-	c.2858C>G	c.(2857-2859)CCA>CGA	p.P953R		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	alpha 1 type XVII collagen	953	Extracellular (Potential).|Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane				ovary(4)|pancreas(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)										0.959184	322.897746	332.053888	94	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105799241	105799241	3812	10	G	C	C	C	611	47	COL17A1	3	3
CCDC147	159686	broad.mit.edu	37	10	106139908	106139908	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106139908G>T	uc001kyh.2	+	c.1295G>T	c.(1294-1296)AGA>ATA	p.R432I		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	432	Potential.									ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)										0.874317	506.987057	532.032556	160	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106139908	106139908	2901	10	G	T	T	T	429	33	CCDC147	2	2
SORCS3	22986	broad.mit.edu	37	10	106849559	106849559	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:106849559C>A	uc001kyi.1	+	c.1055C>A	c.(1054-1056)GCG>GAG	p.A352E		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	352	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)								0.411765	128.05494	128.740981	42	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106849559	106849559	15432	10	C	A	A	A	351	27	SORCS3	1	1
SORCS3	22986	broad.mit.edu	37	10	107022242	107022242	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:107022242G>T	uc001kyi.1	+	c.3597G>T	c.(3595-3597)CGG>CGT	p.R1199R		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1199	Cytoplasmic (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)								0.316667	50.5032	52.296815	19	41	KEEP	---	---	---	---	capture		Silent	SNP	107022242	107022242	15432	10	G	T	T	T	548	43	SORCS3	2	2
SORCS1	114815	broad.mit.edu	37	10	108371772	108371772	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:108371772C>A	uc001kyl.2	-	c.2930G>T	c.(2929-2931)CGG>CTG	p.R977L	SORCS1_uc001kym.2_Missense_Mutation_p.R977L|SORCS1_uc009xxs.2_Missense_Mutation_p.R977L|SORCS1_uc001kyn.1_Missense_Mutation_p.R977L|SORCS1_uc001kyo.2_Missense_Mutation_p.R977L	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform b	977	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)										0.946667	265.55447	271.994201	71	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108371772	108371772	15430	10	C	A	A	A	299	23	SORCS1	1	1
PDCD4	27250	broad.mit.edu	37	10	112653952	112653952	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:112653952A>T	uc001kzh.2	+	c.1094A>T	c.(1093-1095)TAT>TTT	p.Y365F	PDCD4_uc001kzg.2_Missense_Mutation_p.Y354F|PDCD4_uc010qre.1_Missense_Mutation_p.Y351F	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	programmed cell death 4 isoform 1	365	MI 2.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			ovary(1)|breast(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		Ovarian(115;1498 1603 9363 40056 40885)								0.916667	273.035281	287.069336	77	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112653952	112653952	12042	10	A	T	T	T	208	16	PDCD4	3	3
NRAP	4892	broad.mit.edu	37	10	115365556	115365556	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115365556G>T	uc001lal.3	-	c.3880C>A	c.(3880-3882)CAG>AAG	p.Q1294K	NRAP_uc009xyb.2_Intron|NRAP_uc001laj.2_Missense_Mutation_p.Q1294K|NRAP_uc001lak.2_Missense_Mutation_p.Q1259K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1294	Nebulin 34.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)	9		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)										0.510121	393.238518	393.260244	126	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115365556	115365556	11043	10	G	T	T	T	611	47	NRAP	2	2
CASP7	840	broad.mit.edu	37	10	115485261	115485261	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115485261A>C	uc001lao.2	+	c.616A>C	c.(616-618)ACC>CCC	p.T206P	CASP7_uc001lam.2_Intron|CASP7_uc001lan.2_Missense_Mutation_p.T173P|CASP7_uc001lap.2_Missense_Mutation_p.T173P|CASP7_uc001laq.2_Missense_Mutation_p.T173P|CASP7_uc010qsa.1_Missense_Mutation_p.T258P|CASP7_uc010qsb.1_Missense_Mutation_p.T148P	NM_033338	NP_203124	P55210	CASP7_HUMAN	caspase 7 isoform delta	173					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)						231				0.442623	85.905076	86.081507	27	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115485261	115485261	2795	10	A	C	C	C	26	2	CASP7	4	4
C10orf81	79949	broad.mit.edu	37	10	115526456	115526456	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:115526456G>T	uc001lat.1	+	c.185G>T	c.(184-186)CGA>CTA	p.R62L	C10orf81_uc001lar.1_Missense_Mutation_p.R68L|C10orf81_uc009xyc.1_5'UTR|C10orf81_uc001las.1_Intron	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN	hypothetical protein LOC79949	62	PH.									central_nervous_system(1)	1		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)										0.384615	83.613478	84.529191	30	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115526456	115526456	1656	10	G	T	T	T	481	37	C10orf81	1	1
ABLIM1	3983	broad.mit.edu	37	10	116203838	116203838	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:116203838C>A	uc010qsg.1	-	c.1883G>T	c.(1882-1884)CGG>CTG	p.R628L	ABLIM1_uc010qsh.1_Missense_Mutation_p.R596L|ABLIM1_uc010qsi.1_Missense_Mutation_p.R568L|ABLIM1_uc010qsk.1_Missense_Mutation_p.R505L|ABLIM1_uc009xyp.2_Missense_Mutation_p.R592L|ABLIM1_uc010qsf.1_Missense_Mutation_p.R305L|ABLIM1_uc009xyn.2_Missense_Mutation_p.R244L|ABLIM1_uc010qsj.1_Missense_Mutation_p.R223L|ABLIM1_uc009xyo.2_Missense_Mutation_p.R441L	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	628					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)										0.431579	259.130845	259.903378	82	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116203838	116203838	95	10	C	A	A	A	299	23	ABLIM1	1	1
TRUB1	142940	broad.mit.edu	37	10	116735031	116735031	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:116735031T>G	uc001lcd.2	+	c.943T>G	c.(943-945)TTG>GTG	p.L315V	TRUB1_uc010qsl.1_Missense_Mutation_p.L217V	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	315					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)										0.479167	296.571841	296.644533	92	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116735031	116735031	17153	10	T	G	G	G	777	60	TRUB1	4	4
ATRNL1	26033	broad.mit.edu	37	10	116919961	116919961	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:116919961T>C	uc001lcg.2	+	c.990T>C	c.(988-990)TTT>TTC	p.F330F	ATRNL1_uc001lce.2_Non-coding_Transcript|ATRNL1_uc001lcf.2_Silent_p.F330F|ATRNL1_uc009xyq.2_Silent_p.F330F	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	330	Extracellular (Potential).|Kelch 1.					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)										0.213018	91.91862	104.772433	36	133	KEEP	---	---	---	---	capture		Silent	SNP	116919961	116919961	1226	10	T	C	C	C	803	62	ATRNL1	4	4
ATRNL1	26033	broad.mit.edu	37	10	117309038	117309038	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:117309038C>A	uc001lcg.2	+	c.3787C>A	c.(3787-3789)CGG>AGG	p.R1263R	ATRNL1_uc010qsm.1_Silent_p.R392R|ATRNL1_uc010qsn.1_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1263	Cytoplasmic (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)										0.909091	74.471454	77.633015	20	2	KEEP	---	---	---	---	capture		Silent	SNP	117309038	117309038	1226	10	C	A	A	A	243	19	ATRNL1	1	1
C10orf96	374355	broad.mit.edu	37	10	118100281	118100281	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118100281G>T	uc001lck.2	+	c.201G>T	c.(199-201)CAG>CAT	p.Q67H		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	hypothetical protein LOC374355	67	Potential.									ovary(2)	2		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)										0.457143	47.09469	47.150822	16	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118100281	118100281	1664	10	G	T	T	T	438	34	C10orf96	2	2
KIAA1598	57698	broad.mit.edu	37	10	118689514	118689514	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118689514C>A	uc009xyw.2	-	c.859_splice	c.e10-1	p.V287_splice	KIAA1598_uc001lcz.3_Splice_Site_SNP_p.V287_splice|KIAA1598_uc010qso.1_Splice_Site_SNP_p.V227_splice|KIAA1598_uc010qsp.1_Splice_Site_SNP_p.V287_splice|KIAA1598_uc010qsq.1_Splice_Site_SNP_p.V227_splice|KIAA1598_uc001lcy.3_Splice_Site_SNP_p.V257_splice	NM_001127211	NP_001120683			shootin1 isoform a						axon guidance	axon					0				all cancers(201;0.00494)										0.87037	154.056959	161.263727	47	7	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	118689514	118689514	8555	10	C	A	A	A	312	24	KIAA1598	5	2
RAB11FIP2	22841	broad.mit.edu	37	10	119805345	119805345	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:119805345C>A	uc009xyz.1	-	c.330G>T	c.(328-330)GAG>GAT	p.E110D	RAB11FIP2_uc001ldj.1_Missense_Mutation_p.E110D|CASC2_uc001ldm.3_5'Flank|CASC2_uc009xzc.2_5'Flank|CASC2_uc001ldk.2_5'Flank|CASC2_uc009xza.2_5'Flank|CASC2_uc009xzb.2_5'Flank	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2	110					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity				0		Colorectal(252;0.235)		all cancers(201;0.0238)										0.111111	3.604595	7.641951	3	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119805345	119805345	13353	10	C	A	A	A	311	24	RAB11FIP2	2	2
PRLHR	2834	broad.mit.edu	37	10	120354228	120354228	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:120354228C>G	uc001ldp.1	-	c.529G>C	c.(529-531)GCC>CCC	p.A177P		NM_004248	NP_004239	P49683	PRLHR_HUMAN	G protein-coupled receptor 10	177	Helical; Name=4; (Potential).				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity				0		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)										0.5	12.800329	12.800329	4	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120354228	120354228	12973	10	C	G	G	G	351	27	PRLHR	3	3
DHTKD1	55526	broad.mit.edu	37	10	12131232	12131232	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:12131232G>A	uc001ild.3	+	c.965G>A	c.(964-966)GGG>GAG	p.G322E		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain	322					glycolysis|oxidation-reduction process	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			ovary(1)|central_nervous_system(1)	2		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)											0.293651	101.920777	106.725832	37	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12131232	12131232	4679	10	G	A	A	A	559	43	DHTKD1	2	2
BTBD16	118663	broad.mit.edu	37	10	124036380	124036380	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124036380G>T	uc001lgc.1	+	c.93G>T	c.(91-93)GGG>GGT	p.G31G	BTBD16_uc001lgd.1_Silent_p.G30G	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	31											0		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)												0.428571	99.11171	99.44254	33	44	KEEP	---	---	---	---	capture		Silent	SNP	124036380	124036380	1573	10	G	T	T	T	548	43	BTBD16	2	2
CTBP2	1488	broad.mit.edu	37	10	126715712	126715712	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:126715712G>A	uc001lie.3	-	c.617C>T	c.(616-618)CCC>CTC	p.P206L	CTBP2_uc009yak.2_Intron|CTBP2_uc009yal.2_Intron|CTBP2_uc001lif.3_Intron|CTBP2_uc001lih.3_Intron	NM_022802	NP_073713	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 2	Error:Variant_position_missing_in_P56545_after_alignment					negative regulation of cell proliferation|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|transcription repressor activity				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)						463				0.487805	59.999015	60.004027	20	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126715712	126715712	4157	10	G	A	A	A	559	43	CTBP2	2	2
C10orf137	26098	broad.mit.edu	37	10	127408457	127408457	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:127408457G>T	uc001liq.1	+	c.81G>T	c.(79-81)CAG>CAT	p.Q27H	C10orf137_uc001lin.2_Missense_Mutation_p.Q27H|C10orf137_uc001lio.1_Missense_Mutation_p.Q27H|C10orf137_uc001lip.1_De_novo_Start_InFrame	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)	8		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)												0.625	16.076555	16.186169	5	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127408457	127408457	1631	10	G	T	T	T	451	35	C10orf137	2	2
C10orf137	26098	broad.mit.edu	37	10	127438099	127438099	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:127438099T>C	uc001liq.1	+	c.3242T>C	c.(3241-3243)CTA>CCA	p.L1081P	C10orf137_uc001lio.1_Missense_Mutation_p.L1047P|C10orf137_uc001lip.1_Missense_Mutation_p.L785P|C10orf137_uc001lis.1_Missense_Mutation_p.L407P|C10orf137_uc001lit.1_5'UTR	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)	8		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)												0.393701	167.232859	168.485896	50	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127438099	127438099	1631	10	T	C	C	C	689	53	C10orf137	4	4
FRG2B	441581	broad.mit.edu	37	10	135439016	135439016	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135439016C>A	uc010qvg.1	-	c.424G>T	c.(424-426)GAT>TAT	p.D142Y		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	142						nucleus					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)										0.221649	98.839753	112.659804	43	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135439016	135439016	6296	10	C	A	A	A	377	29	FRG2B	2	2
FRG2B	441581	broad.mit.edu	37	10	135440180	135440180	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:135440180G>T	uc010qvg.1	-	c.67C>A	c.(67-69)CCT>ACT	p.P23T		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	23						nucleus					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)										0.118644	22.43717	47.765092	21	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135440180	135440180	6296	10	G	T	T	T	559	43	FRG2B	2	2
PTER	9317	broad.mit.edu	37	10	16528617	16528617	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:16528617G>T	uc001iog.1	+	c.698_splice	c.e4+1	p.R233_splice	PTER_uc001ioh.1_Splice_Site_SNP_p.R233_splice|PTER_uc001ioi.1_Splice_Site_SNP_p.R233_splice|PTER_uc009xjp.1_Splice_Site_SNP_p.R233_splice	NM_030664	NP_109589			phosphotriesterase related						catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	p.?(1)		ovary(2)	2						Ovarian(2;46 150 15648 38137 47908)								0.42437	307.836508	309.022526	101	137	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	16528617	16528617	13193	10	G	T	T	T	572	44	PTER	5	2
CUBN	8029	broad.mit.edu	37	10	16960652	16960652	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:16960652T>A	uc001ioo.2	-	c.6969A>T	c.(6967-6969)ACA>ACT	p.T2323T		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2323	CUB 16.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)	18					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)					2704				0.284091	137.58822	144.947561	50	126	KEEP	---	---	---	---	capture		Silent	SNP	16960652	16960652	4211	10	T	A	A	A	756	59	CUBN	3	3
ST8SIA6	338596	broad.mit.edu	37	10	17373409	17373409	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:17373409C>A	uc001ipd.2	-	c.520G>T	c.(520-522)GTG>TTG	p.V174L	ST8SIA6_uc010qce.1_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	174	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1														0.404908	200.306301	201.597063	66	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17373409	17373409	15754	10	C	A	A	A	260	20	ST8SIA6	2	2
SLC39A12	221074	broad.mit.edu	37	10	18242350	18242350	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18242350G>A	uc001ipo.2	+	c.145G>A	c.(145-147)GTT>ATT	p.V49I	SLC39A12_uc001ipn.2_Missense_Mutation_p.V49I|SLC39A12_uc001ipp.2_Missense_Mutation_p.V49I|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	49	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.062893	-12.166009	19.482579	10	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18242350	18242350	15112	10	G	A	A	A	572	44	SLC39A12	2	2
SLC39A12	221074	broad.mit.edu	37	10	18331665	18331665	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18331665G>T	uc001ipo.2	+	c.1979G>T	c.(1978-1980)CGA>CTA	p.R660L	SLC39A12_uc001ipn.2_Missense_Mutation_p.R623L|SLC39A12_uc001ipp.2_Missense_Mutation_p.R659L|SLC39A12_uc010qck.1_Missense_Mutation_p.R526L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	660	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.175	56.81238	72.759935	28	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18331665	18331665	15112	10	G	T	T	T	481	37	SLC39A12	1	1
PLXDC2	84898	broad.mit.edu	37	10	20506404	20506404	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:20506404G>C	uc001iqg.1	+	c.1172G>C	c.(1171-1173)CGA>CCA	p.R391P	PLXDC2_uc001iqh.1_Missense_Mutation_p.R342P|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	391	Extracellular (Potential).|Thr-rich.					integral to membrane				ovary(2)|central_nervous_system(1)	3														0.25	170.788285	185.050925	63	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20506404	20506404	12544	10	G	C	C	C	481	37	PLXDC2	3	3
MLLT10	8028	broad.mit.edu	37	10	21962540	21962540	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:21962540G>T	uc001iqs.2	+	c.1313G>T	c.(1312-1314)GGA>GTA	p.G438V	MLLT10_uc001iqt.2_Missense_Mutation_p.G438V|MLLT10_uc001iqv.2_Non-coding_Transcript|MLLT10_uc001iqy.2_Missense_Mutation_p.G438V|MLLT10_uc001ira.2_Intron|MLLT10_uc001irb.2_5'Flank|MLLT10_uc001iqz.2_Missense_Mutation_p.G193V	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	438	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1										395				0.208383	368.97181	434.759756	174	661	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21962540	21962540	10016	10	G	T	T	T	533	41	MLLT10	2	2
DNAJC1	64215	broad.mit.edu	37	10	22209839	22209839	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:22209839T>C	uc001irc.2	-	c.425A>G	c.(424-426)TAC>TGC	p.Y142C	DNAJC1_uc001ird.2_Missense_Mutation_p.Y28C	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	142	Lumenal (By similarity).				negative regulation of proteolysis|regulation of protein secretion	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)												0.22	57.300996	64.517334	22	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22209839	22209839	4811	10	T	C	C	C	741	57	DNAJC1	4	4
SPAG6	9576	broad.mit.edu	37	10	22653940	22653940	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:22653940G>T	uc001iri.2	+	c.280G>T	c.(280-282)GAA>TAA	p.E94*	SPAG6_uc001irj.2_Nonsense_Mutation_p.E94*|SPAG6_uc010qct.1_Nonsense_Mutation_p.E64*|SPAG6_uc009xkh.2_Nonsense_Mutation_p.E72*	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	94	ARM 2.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1														0.363636	44.285974	45.006635	16	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22653940	22653940	15485	10	G	T	T	T	429	33	SPAG6	5	2
SPAG6	9576	broad.mit.edu	37	10	22676834	22676834	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:22676834C>A	uc001iri.2	+	c.761C>A	c.(760-762)CCA>CAA	p.P254Q	SPAG6_uc001irj.2_Missense_Mutation_p.P254Q|SPAG6_uc010qct.1_Missense_Mutation_p.P224Q|SPAG6_uc009xkh.2_Missense_Mutation_p.P232Q	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	254	ARM 6.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1														0.265306	69.011858	73.886031	26	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22676834	22676834	15485	10	C	A	A	A	273	21	SPAG6	2	2
MYO3A	53904	broad.mit.edu	37	10	26455078	26455078	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26455078C>G	uc001isn.2	+	c.3082C>G	c.(3082-3084)CTC>GTC	p.L1028V	MYO3A_uc009xko.1_Missense_Mutation_p.L1028V|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1028	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|lung(3)|central_nervous_system(2)|breast(1)|kidney(1)|pancreas(1)	14										781				0.463483	1052.486909	1053.311703	330	382	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26455078	26455078	10471	10	C	G	G	G	416	32	MYO3A	3	3
ANKRD26	22852	broad.mit.edu	37	10	27301833	27301833	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:27301833C>A	uc009xku.1	-	c.4931G>T	c.(4930-4932)AGC>ATC	p.S1644I	ANKRD26_uc001itg.2_Missense_Mutation_p.S1330I|ANKRD26_uc001ith.2_Missense_Mutation_p.S1643I	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1643										large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4														0.195402	111.673993	134.252688	51	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27301833	27301833	659	10	C	A	A	A	364	28	ANKRD26	2	2
KIAA1462	57608	broad.mit.edu	37	10	30336463	30336463	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:30336463C>A	uc009xle.1	-	c.279G>T	c.(277-279)GCG>GCT	p.A93A	KIAA1462_uc001iux.2_Silent_p.A93A|KIAA1462_uc001iuy.2_Silent_p.A93A|KIAA1462_uc001iuz.2_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	93										ovary(4)	4														0.229508	65.333015	73.53502	28	94	KEEP	---	---	---	---	capture		Silent	SNP	30336463	30336463	8543	10	C	A	A	A	288	23	KIAA1462	1	1
ZEB1	6935	broad.mit.edu	37	10	31812931	31812931	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:31812931C>T	uc001ivu.3	+	c.2675C>T	c.(2674-2676)CCG>CTG	p.P892L	ZEB1_uc001ivr.3_Missense_Mutation_p.P673L|ZEB1_uc010qee.1_Missense_Mutation_p.P673L|ZEB1_uc010qef.1_Missense_Mutation_p.P673L|ZEB1_uc009xlk.1_Missense_Mutation_p.P673L|ZEB1_uc001ivs.3_Missense_Mutation_p.P891L|ZEB1_uc001ivt.3_Missense_Mutation_p.P673L|ZEB1_uc001ivv.3_Missense_Mutation_p.P871L|ZEB1_uc010qeh.1_Missense_Mutation_p.P824L|ZEB1_uc009xlp.2_Missense_Mutation_p.P875L	NM_030751	NP_001121600	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	891					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)								0.19403	92.533228	110.069791	39	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31812931	31812931	18211	10	C	T	T	T	299	23	ZEB1	1	1
PITRM1	10531	broad.mit.edu	37	10	3212375	3212375	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:3212375C>T	uc001igt.1	-	c.80G>A	c.(79-81)CGA>CAA	p.R27Q	PITRM1_uc001igr.1_Missense_Mutation_p.R27Q|PITRM1_uc010qah.1_Intron|PITRM1_uc001igu.1_Missense_Mutation_p.R19Q|PITRM1_uc010qai.1_Missense_Mutation_p.D8N|PITRM1_uc001igw.1_Missense_Mutation_p.R27Q	NM_014889	NP_055704	Q5JRX3	PREP_HUMAN	metalloprotease 1 precursor	27					proteolysis	mitochondrial matrix|nucleus	enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			pancreas(1)	1														0.136986	15.105508	24.412746	10	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3212375	3212375	12377	10	C	T	T	T	403	31	PITRM1	1	1
CCDC7	221016	broad.mit.edu	37	10	32806872	32806872	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:32806872G>T	uc001iwj.2	+	c.873_splice	c.e11-1	p.R291_splice	CCDC7_uc001iwk.2_Splice_Site_SNP_p.R291_splice|CCDC7_uc009xlv.2_Splice_Site_SNP|CCDC7_uc009xlw.1_Splice_Site_SNP|CCDC7_uc009xlx.1_Splice_Site_SNP_p.S171_splice|CCDC7_uc009xly.1_Splice_Site_SNP	NM_145023	NP_659460			coiled-coil domain containing 7												0		Breast(68;0.000207)|Prostate(175;0.0107)												0.195804	60.218961	72.552893	28	115	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	32806872	32806872	2965	10	G	T	T	T	429	33	CCDC7	5	2
CCNY	219771	broad.mit.edu	37	10	35842023	35842023	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:35842023C>T	uc001iyw.3	+	c.656C>T	c.(655-657)GCG>GTG	p.A219V	CCNY_uc001iyu.3_Missense_Mutation_p.A165V|CCNY_uc001iyv.3_Missense_Mutation_p.A165V|CCNY_uc001iyx.3_Missense_Mutation_p.A165V|CCNY_uc009xmb.2_Missense_Mutation_p.A194V|CCNY_uc010qet.1_Missense_Mutation_p.A86V	NM_145012	NP_659449	Q8ND76	CCNY_HUMAN	cyclin Y isoform 1	219	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein binding				0														0.276471	120.76278	128.402349	47	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35842023	35842023	3063	10	C	T	T	T	351	27	CCNY	1	1
ANKRD30A	91074	broad.mit.edu	37	10	37490217	37490217	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:37490217C>A	uc001iza.1	+	c.2665C>A	c.(2665-2667)CAA>AAA	p.Q889K		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	945					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)	8														0.188482	74.683948	92.036953	36	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37490217	37490217	663	10	C	A	A	A	377	29	ANKRD30A	2	2
C10orf71	118461	broad.mit.edu	37	10	50531556	50531556	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50531556C>A	uc010qgp.1	+	c.966C>A	c.(964-966)GTC>GTA	p.V322V		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	322											0														0.385246	129.395268	130.803476	47	75	KEEP	---	---	---	---	capture		Silent	SNP	50531556	50531556	1651	10	C	A	A	A	405	32	C10orf71	2	2
SLC18A3	6572	broad.mit.edu	37	10	50819662	50819662	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:50819662C>A	uc001jhw.2	+	c.876C>A	c.(874-876)GCC>GCA	p.A292A	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	292	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(1)	1														0.383333	67.5232	68.234363	23	37	KEEP	---	---	---	---	capture		Silent	SNP	50819662	50819662	14923	10	C	A	A	A	288	23	SLC18A3	1	1
NET1	10276	broad.mit.edu	37	10	5496321	5496321	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:5496321G>T	uc001iia.2	+	c.862G>T	c.(862-864)GAC>TAC	p.D288Y	NET1_uc010qar.1_Missense_Mutation_p.D107Y|NET1_uc001iib.2_Missense_Mutation_p.D234Y|NET1_uc010qas.1_Missense_Mutation_p.D107Y	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	288	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1														0.198347	47.324885	57.585038	24	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5496321	5496321	10737	10	G	T	T	T	429	33	NET1	2	2
PCDH15	65217	broad.mit.edu	37	10	55581965	55581965	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55581965C>A	uc010qhy.1	-	c.5542G>T	c.(5542-5544)GTC>TTC	p.V1848F	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.V1838F|PCDH15_uc010qhw.1_Missense_Mutation_p.V1801F|PCDH15_uc010qhx.1_Missense_Mutation_p.V1772F|PCDH15_uc010qhz.1_Missense_Mutation_p.V1843F|PCDH15_uc010qia.1_Missense_Mutation_p.V1821F|PCDH15_uc001jju.1_Missense_Mutation_p.V1841F|PCDH15_uc010qib.1_Missense_Mutation_p.V1818F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	1841	Cytoplasmic (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				0.472222	105.14427	105.192582	34	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55581965	55581965	11931	10	C	A	A	A	221	17	PCDH15	2	2
PCDH15	65217	broad.mit.edu	37	10	56129003	56129003	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:56129003C>A	uc010qhy.1	-	c.366G>T	c.(364-366)CAG>CAT	p.Q122H	PCDH15_uc010qhq.1_Missense_Mutation_p.Q122H|PCDH15_uc010qhr.1_Missense_Mutation_p.Q117H|PCDH15_uc010qhs.1_Missense_Mutation_p.Q122H|PCDH15_uc010qht.1_Missense_Mutation_p.Q117H|PCDH15_uc010qhu.1_Missense_Mutation_p.Q117H|PCDH15_uc001jjv.1_Missense_Mutation_p.Q95H|PCDH15_uc010qhv.1_Missense_Mutation_p.Q117H|PCDH15_uc010qhw.1_Missense_Mutation_p.Q117H|PCDH15_uc010qhx.1_Missense_Mutation_p.Q117H|PCDH15_uc010qhz.1_Missense_Mutation_p.Q117H|PCDH15_uc010qia.1_Missense_Mutation_p.Q95H|PCDH15_uc001jju.1_Missense_Mutation_p.Q117H|PCDH15_uc010qib.1_Missense_Mutation_p.Q95H|PCDH15_uc001jjw.2_Missense_Mutation_p.Q117H	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	117	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				0.944444	178.389297	185.590552	51	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56129003	56129003	11931	10	C	A	A	A	311	24	PCDH15	2	2
C10orf18	54906	broad.mit.edu	37	10	5788150	5788150	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:5788150G>T	uc001iij.2	+	c.2766G>T	c.(2764-2766)GGG>GGT	p.G922G	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	922										ovary(1)|central_nervous_system(1)	2														0.228916	86.456734	97.651587	38	128	KEEP	---	---	---	---	capture		Silent	SNP	5788150	5788150	1633	10	G	T	T	T	548	43	C10orf18	2	2
IPMK	253430	broad.mit.edu	37	10	59956113	59956113	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:59956113A>G	uc001jkb.2	-	c.975T>C	c.(973-975)TAT>TAC	p.Y325Y		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	325	Nuclear localization signal.					nucleus	ATP binding|inositol trisphosphate 6-kinase activity			ovary(1)	1														0.877551	309.721272	323.40505	86	12	KEEP	---	---	---	---	capture		Silent	SNP	59956113	59956113	8093	10	A	G	G	G	206	16	IPMK	4	4
ZNF365	22891	broad.mit.edu	37	10	64136068	64136068	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:64136068G>A	uc001jmc.2	+	c.116G>A	c.(115-117)AGC>AAC	p.S39N	ZNF365_uc001jly.3_Missense_Mutation_p.S54N|ZNF365_uc001jmb.3_Missense_Mutation_p.S39N|ZNF365_uc001jlz.3_Missense_Mutation_p.S39N|ZNF365_uc001jma.3_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform C	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)	1	Prostate(12;0.0297)|all_hematologic(501;0.228)													0.52381	34.42449	34.434756	11	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64136068	64136068	18461	10	G	A	A	A	442	34	ZNF365	2	2
NRBF2	29982	broad.mit.edu	37	10	64913808	64913808	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:64913808C>T	uc001jmj.3	+	c.694C>T	c.(694-696)CCA>TCA	p.P232S	NRBF2_uc010qip.1_Missense_Mutation_p.P222S	NM_030759	NP_110386	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	232					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding				0	Prostate(12;0.0119)|all_hematologic(501;0.191)													0.318182	56.555691	58.492958	21	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64913808	64913808	11046	10	C	T	T	T	234	18	NRBF2	2	2
PRKCQ	5588	broad.mit.edu	37	10	6498683	6498683	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:6498683C>A	uc001iji.1	-	c.1699G>T	c.(1699-1701)GCC>TCC	p.A567S	PRKCQ_uc009xim.1_Missense_Mutation_p.A534S|PRKCQ_uc001ijj.1_Missense_Mutation_p.A534S|PRKCQ_uc009xin.1_Missense_Mutation_p.A498S|PRKCQ_uc010qax.1_Missense_Mutation_p.A409S	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	534	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|protein phosphorylation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						Ovarian(50;572 1126 10530 25349 30594)				435				0.388489	313.2813	316.293229	108	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6498683	6498683	12958	10	C	A	A	A	325	25	PRKCQ	2	2
SIRT1	23411	broad.mit.edu	37	10	69666588	69666588	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:69666588A>G	uc001jnd.2	+	c.984A>G	c.(982-984)AAA>AAG	p.K328K	SIRT1_uc010qis.1_Silent_p.K33K|SIRT1_uc009xpp.2_Silent_p.K136K|SIRT1_uc001jne.2_Silent_p.K25K	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	328	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|transcription repressor activity|zinc ion binding				0										395				0.918919	125.270396	131.297463	34	3	KEEP	---	---	---	---	capture		Silent	SNP	69666588	69666588	14832	10	A	G	G	G	50	4	SIRT1	4	4
TET1	80312	broad.mit.edu	37	10	70332191	70332192	+	Nonsense_Mutation	DNP	GG	CT	CT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70332191_70332192GG>CT	uc001jok.3	+	c.96_97GG>CT	c.(94-99)AAGGGA>AACTGA	p.32_33KG>N*		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	32_33					DNA demethylation|inner cell mass cell differentiation|oxidation-reduction process|stem cell maintenance	nucleus	iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)	5										280				0.418182	75.315501	75.636957	23	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	70332191	70332192	16296	10	GG	CT	CT	CT	451	35	TET1	5	3
DDX21	9188	broad.mit.edu	37	10	70726924	70726924	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70726924A>T	uc001jov.1	+	c.1055A>T	c.(1054-1056)CAA>CTA	p.Q352L	DDX21_uc001jow.1_Missense_Mutation_p.Q284L	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 21	352	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)	3														0.857143	121.826485	126.988378	36	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70726924	70726924	4520	10	A	T	T	T	65	5	DDX21	3	3
SUPV3L1	6832	broad.mit.edu	37	10	70958934	70958934	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:70958934A>T	uc001jpe.1	+	c.1279A>T	c.(1279-1281)ATT>TTT	p.I427F	SUPV3L1_uc010qjd.1_Missense_Mutation_p.I296F	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 precursor	427	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2														0.411765	67.767666	68.113969	21	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70958934	70958934	15922	10	A	T	T	T	52	4	SUPV3L1	3	3
TACR2	6865	broad.mit.edu	37	10	71164609	71164609	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:71164609G>T	uc001jpn.2	-	c.1170C>A	c.(1168-1170)GCC>GCA	p.A390A	TACR2_uc001jpm.2_Silent_p.A178A	NM_001057	NP_001048	P21452	NK2R_HUMAN	tachykinin receptor 2	390	Cytoplasmic (Potential).				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity				0					Clonidine(DB00575)|Octreotide(DB00104)									0.538462	19.222463	19.238952	7	6	KEEP	---	---	---	---	capture		Silent	SNP	71164609	71164609	16027	10	G	T	T	T	548	43	TACR2	2	2
CDH23	64072	broad.mit.edu	37	10	73544806	73544806	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73544806C>T	uc001jrx.3	+	c.5661C>T	c.(5659-5661)ACC>ACT	p.T1887T		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1887	Cadherin 18.|Extracellular (Potential).		T -> I.		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.390625	76.542313	77.218224	25	39	KEEP	---	---	---	---	capture		Silent	SNP	73544806	73544806	3237	10	C	T	T	T	301	24	CDH23	2	2
SPOCK2	9806	broad.mit.edu	37	10	73830120	73830120	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73830120C>A	uc001jso.1	-	c.424G>T	c.(424-426)GCC>TCC	p.A142S	SPOCK2_uc001jsp.2_Missense_Mutation_p.A142S	NM_014767	NP_055582	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	142	Kazal-like.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding				0														0.3125	12.366834	12.868963	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73830120	73830120	15593	10	C	A	A	A	338	26	SPOCK2	2	2
ITIH5	80760	broad.mit.edu	37	10	7618494	7618494	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7618494C>A	uc001ijq.2	-	c.1900G>T	c.(1900-1902)GAG>TAG	p.E634*	ITIH5_uc001ijp.2_Nonsense_Mutation_p.E420*|ITIH5_uc001ijr.1_Nonsense_Mutation_p.E634*	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	634					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4														0.194444	14.103341	17.239715	7	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7618494	7618494	8211	10	C	A	A	A	390	30	ITIH5	5	2
MYST4	23522	broad.mit.edu	37	10	76788500	76788500	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:76788500G>A	uc001jwn.1	+	c.3918G>A	c.(3916-3918)AGG>AGA	p.R1306R	MYST4_uc001jwo.1_Silent_p.R1014R|MYST4_uc001jwp.1_Silent_p.R1123R	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1306					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription activator activity|transcription factor binding|transcription repressor activity|zinc ion binding			central_nervous_system(5)|ovary(3)|breast(1)	9	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)									319				0.416667	196.646803	197.59272	65	91	KEEP	---	---	---	---	capture		Silent	SNP	76788500	76788500	10500	10	G	A	A	A	529	41	MYST4	2	2
ITIH2	3698	broad.mit.edu	37	10	7745435	7745435	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7745435T>G	uc001ijs.2	+	c.38T>G	c.(37-39)CTT>CGT	p.L13R		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	13					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.238095	129.657717	144.196153	55	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7745435	7745435	8208	10	T	G	G	G	728	56	ITIH2	4	4
KCNMA1	3778	broad.mit.edu	37	10	78708918	78708918	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:78708918G>T	uc001jxn.2	-	c.2691C>A	c.(2689-2691)CCC>CCA	p.P897P	KCNMA1_uc001jxj.2_Silent_p.P843P|KCNMA1_uc001jxk.1_Silent_p.P515P|KCNMA1_uc009xrt.1_Silent_p.P688P|KCNMA1_uc001jxl.1_Silent_p.P522P|KCNMA1_uc001jxo.2_Silent_p.P880P|KCNMA1_uc001jxm.2_Silent_p.P839P|KCNMA1_uc001jxq.2_Silent_p.P842P	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	897	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|catalytic activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)									0.887205	1788.643655	1876.610914	527	67	KEEP	---	---	---	---	capture		Silent	SNP	78708918	78708918	8378	10	G	T	T	T	600	47	KCNMA1	2	2
KCNMA1	3778	broad.mit.edu	37	10	78880746	78880746	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:78880746T>C	uc001jxn.2	-	c.869A>G	c.(868-870)AAT>AGT	p.N290S	KCNMA1_uc001jxj.2_Missense_Mutation_p.N290S|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.N110S|KCNMA1_uc001jxo.2_Missense_Mutation_p.N290S|KCNMA1_uc001jxm.2_Missense_Mutation_p.N290S|KCNMA1_uc001jxq.2_Missense_Mutation_p.N290S	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	290	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|catalytic activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)									0.464286	42.672964	42.703991	13	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78880746	78880746	8378	10	T	C	C	C	676	52	KCNMA1	4	4
TAF3	83860	broad.mit.edu	37	10	8006869	8006869	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:8006869A>G	uc010qbd.1	+	c.1396A>G	c.(1396-1398)ATG>GTG	p.M466V		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	466					maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1														0.44473	571.479367	572.504549	173	216	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8006869	8006869	16046	10	A	G	G	G	52	4	TAF3	4	4
GATA3	2625	broad.mit.edu	37	10	8100536	8100536	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:8100536A>T	uc001ijz.2	+	c.510A>T	c.(508-510)CCA>CCT	p.P170P	GATA3_uc001ika.2_Silent_p.P170P	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 1	170					blood coagulation|cell fate determination|defense response|mesonephros development|negative regulation of cell proliferation|nephric duct formation|norepinephrine biosynthetic process|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of interleukin-4 production|regulation of cytokine biosynthetic process|response to estrogen stimulus|signal transduction|sympathetic nervous system development|transcription from RNA polymerase II promoter|ureteric bud formation	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(2)|central_nervous_system(2)	21														0.342857	34.997298	35.757081	12	23	KEEP	---	---	---	---	capture		Silent	SNP	8100536	8100536	6519	10	A	T	T	T	80	7	GATA3	3	3
NRG3	10718	broad.mit.edu	37	10	84744866	84744866	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:84744866T>G	uc001kco.2	+	c.1596T>G	c.(1594-1596)AGT>AGG	p.S532R	NRG3_uc010qlz.1_Missense_Mutation_p.S531R|NRG3_uc001kcp.2_Missense_Mutation_p.S335R|NRG3_uc001kcq.2_Missense_Mutation_p.S182R|NRG3_uc001kcr.2_Missense_Mutation_p.S206R	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	556	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity				0				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)										0.904437	955.795707	1004.052455	265	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84744866	84744866	11054	10	T	G	G	G	764	59	NRG3	4	4
OPN4	94233	broad.mit.edu	37	10	88416013	88416013	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:88416013C>T	uc010qmk.1	+	c.246C>T	c.(244-246)CTC>CTT	p.L82L	OPN4_uc001kdp.2_Silent_p.L82L|OPN4_uc001kdq.2_Silent_p.L82L	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	opsin 4 isoform 2	82	Helical; Name=1; (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			ovary(1)	1														0.465517	77.715162	77.775561	27	31	KEEP	---	---	---	---	capture		Silent	SNP	88416013	88416013	11288	10	C	T	T	T	366	29	OPN4	2	2
PTEN	5728	broad.mit.edu	37	10	89685269	89685269	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:89685269G>T	uc001kfb.2	+	c.165_splice	c.e4-1	p.R55_splice		NM_000314	NP_000305			phosphatase and tensin homolog						apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.?(5)|p.V54fs*29(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)				31		264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.238095	12.163707	13.480071	5	16	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	89685269	89685269	13192	10	G	T	T	T	455	35	PTEN	5	2
PTEN	5728	broad.mit.edu	37	10	89692790	89692790	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:89692790G>T	uc001kfb.2	+	c.274G>T	c.(274-276)GAC>TAC	p.D92Y		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	92	Phosphatase tensin-type.			D->A: 700-fold reduction in phosphatase activity towards PtdIns(3,4,5)P3. Loss of protein phosphatase activity. Unable to inhibit focal adhesion formation.	apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D92H(3)|p.D92N(2)|p.Y27_N212>Y(2)|p.D92Y(1)|p.Q87_P96del(1)|p.F90_P95>L(1)|p.N82_P95del(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)				31	p.D92H(CAMA1-Tumor)	264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.403361	137.671597	138.644417	48	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89692790	89692790	13192	10	G	T	T	T	429	33	PTEN	2	2
FAS	355	broad.mit.edu	37	10	90774097	90774097	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:90774097A>G	uc001kfr.2	+	c.898A>G	c.(898-900)AAA>GAA	p.K300E	FAS_uc010qna.1_Non-coding_Transcript|FAS_uc001kfs.2_3'UTR|FAS_uc001kft.2_Missense_Mutation_p.K279E|FAS_uc010qnb.1_Non-coding_Transcript|FAS_uc010qnc.1_Non-coding_Transcript|FAS_uc001kfw.2_3'UTR|FAS_uc010qnd.1_Non-coding_Transcript|FAS_uc010qne.1_Non-coding_Transcript|FAS_uc009xtp.2_Non-coding_Transcript	NM_000043	NP_000034	P25445	TNR6_HUMAN	tumor necrosis factor receptor superfamily,	300	Death.|Interaction with HIPK3 (By similarity).|Cytoplasmic (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			upper_aerodigestive_tract(1)	1		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)						171				0.87069	333.541514	349.019801	101	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90774097	90774097	5917	10	A	G	G	G	13	1	FAS	4	4
KIF20B	9585	broad.mit.edu	37	10	91514305	91514305	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:91514305A>G	uc001kgs.1	+	c.4378A>G	c.(4378-4380)AAG>GAG	p.K1460E	KIF20B_uc001kgr.1_Missense_Mutation_p.K1420E|KIF20B_uc001kgt.1_Missense_Mutation_p.K671E|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1460					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)	2														0.948276	212.601374	219.207862	55	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91514305	91514305	8598	10	A	G	G	G	13	1	KIF20B	4	4
BTAF1	9044	broad.mit.edu	37	10	93711234	93711234	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:93711234G>T	uc001khr.2	+	c.475G>T	c.(475-477)GAA>TAA	p.E159*	BTAF1_uc009xua.1_Non-coding_Transcript	NM_003972	NP_003963	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription	159					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0846)												0.388889	79.982144	80.76136	28	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	93711234	93711234	1568	10	G	T	T	T	429	33	BTAF1	5	2
TUBB8	347688	broad.mit.edu	37	10	94595	94595	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94595C>A	uc001ifi.2	-	c.237G>T	c.(235-237)GGG>GGT	p.G79G	TUBB8_uc009xhe.2_Intron|TUBB8_uc010pzs.1_Silent_p.G7G	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 isoform 1	79					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		Pancreas(192;2041 3010 9013 18103)								0.291971	100.504902	105.782222	40	97	KEEP	---	---	---	---	capture		Silent	SNP	94595	94595	17316	10	C	A	A	A	327	26	TUBB8	2	2
EXOC6	54536	broad.mit.edu	37	10	94757306	94757306	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:94757306A>T	uc010qnr.1	+	c.2077A>T	c.(2077-2079)AGT>TGT	p.S693C	EXOC6_uc001kie.2_Missense_Mutation_p.S672C|EXOC6_uc001kig.2_Missense_Mutation_p.S677C|EXOC6_uc009xub.2_Missense_Mutation_p.S676C|EXOC6_uc009xuc.2_Missense_Mutation_p.S574C|EXOC6_uc001kih.2_Non-coding_Transcript|EXOC6_uc001kii.2_Missense_Mutation_p.S251C	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform b	677					protein transport|vesicle docking involved in exocytosis	exocyst					0		Colorectal(252;0.123)												0.926829	269.987598	284.316809	76	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94757306	94757306	5501	10	A	T	T	T	91	7	EXOC6	3	3
PLCE1	51196	broad.mit.edu	37	10	96018805	96018805	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96018805G>T	uc001kjk.2	+	c.3712G>T	c.(3712-3714)GAT>TAT	p.D1238Y	PLCE1_uc010qnx.1_Missense_Mutation_p.D1222Y|PLCE1_uc001kjm.2_Missense_Mutation_p.D930Y	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1238					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|phospholipid metabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)												0.901235	727.277293	766.388516	219	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96018805	96018805	12460	10	G	T	T	T	585	45	PLCE1	2	2
DNTT	1791	broad.mit.edu	37	10	98087245	98087245	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98087245C>A	uc001kmf.2	+	c.895C>A	c.(895-897)CTT>ATT	p.L299I	DNTT_uc001kmg.2_Missense_Mutation_p.L299I	NM_004088	NP_004079	P04053	TDT_HUMAN	terminal deoxynucleotidyltransferase isoform 1	299	Mediates interaction with DNTTIP2.			L -> P (in Ref. 4; BAD97037).	DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			ovary(1)	1		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)										0.89759	998.958522	1051.199298	298	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98087245	98087245	4863	10	C	A	A	A	312	24	DNTT	2	2
MMS19	64210	broad.mit.edu	37	10	99225839	99225839	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:99225839T>A	uc001kns.3	-	c.1583A>T	c.(1582-1584)AAG>ATG	p.K528M	MMS19_uc009xvs.2_Missense_Mutation_p.K113M|MMS19_uc009xvt.2_Missense_Mutation_p.K272M|MMS19_uc001knr.2_Missense_Mutation_p.K369M|MMS19_uc010qox.1_Missense_Mutation_p.K506M|MMS19_uc001knt.2_Missense_Mutation_p.K528M|MMS19_uc001knu.1_Non-coding_Transcript	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog	528					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)										0.419355	38.670358	38.846119	13	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99225839	99225839	10063	10	T	A	A	A	728	56	MMS19	3	3
TMEM133	83935	broad.mit.edu	37	11	100863141	100863141	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:100863141G>T	uc001pgf.2	+	c.102G>T	c.(100-102)TTG>TTT	p.L34F		NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	34						integral to membrane					0		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)										0.291139	116.086036	122.262635	46	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100863141	100863141	16581	11	G	T	T	T	581	45	TMEM133	2	2
TRPC6	7225	broad.mit.edu	37	11	101374793	101374793	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:101374793C>A	uc001pgk.3	-	c.907G>T	c.(907-909)GAA>TAA	p.E303*	TRPC6_uc009ywy.2_Nonsense_Mutation_p.E303*|TRPC6_uc009ywz.1_Nonsense_Mutation_p.E303*	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	303	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		Colon(166;1315 1927 11094 12848 34731)								0.294776	204.333147	214.425596	79	189	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	101374793	101374793	17134	11	C	A	A	A	377	29	TRPC6	5	2
TRPC6	7225	broad.mit.edu	37	11	101374826	101374827	+	Missense_Mutation	DNP	CT	AA	AA			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:101374826_101374827CT>AA	uc001pgk.3	-	c.873_874AG>TT	c.(871-876)GAAGAT>GATTAT	p.291_292ED>DY	TRPC6_uc009ywy.2_Missense_Mutation_p.291_292ED>DY|TRPC6_uc009ywz.1_Missense_Mutation_p.291_292ED>DY	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel,	291_292	Cytoplasmic (Potential).				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		Colon(166;1315 1927 11094 12848 34731)								0.538961	513.510594	513.924735	166	142	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	101374826	101374827	17134	11	CT	AA	AA	AA	416	32	TRPC6	2	2
MUC6	4588	broad.mit.edu	37	11	1017147	1017147	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1017147G>T	uc001lsw.2	-	c.5654C>A	c.(5653-5655)GCC>GAC	p.A1885D		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1885	Thr-rich.|2.|Approximate repeats.			PTTIKA -> LTTLMN (in Ref. 5; AAA35866).	maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)										0.216749	92.08037	107.120888	44	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1017147	1017147	10374	11	G	T	T	T	546	42	MUC6	2	2
ANGPTL5	253935	broad.mit.edu	37	11	101762169	101762169	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:101762169G>T	uc001pgl.2	-	c.1008C>A	c.(1006-1008)AAC>AAA	p.N336K		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5 precursor	336	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)										0.304813	331.921773	344.57509	114	260	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101762169	101762169	620	11	G	T	T	T	516	40	ANGPTL5	1	1
C11orf70	85016	broad.mit.edu	37	11	101953855	101953855	+	Silent	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:101953855T>G	uc001pgp.2	+	c.729T>G	c.(727-729)TCT>TCG	p.S243S	C11orf70_uc001pgq.2_Silent_p.S205S	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	hypothetical protein LOC85016	243											0	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)										0.084034	-0.839701	20.081442	10	109	KEEP	---	---	---	---	capture		Silent	SNP	101953855	101953855	1698	11	T	G	G	G	717	56	C11orf70	4	4
DYNC2H1	79659	broad.mit.edu	37	11	103023009	103023009	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103023009G>C	uc001phn.1	+	c.3091G>C	c.(3091-3093)GAC>CAC	p.D1031H	DYNC2H1_uc001pho.2_Missense_Mutation_p.D1031H|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1031	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)										0.288288	99.055223	103.515388	32	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103023009	103023009	5032	11	G	C	C	C	429	33	DYNC2H1	3	3
PDGFD	80310	broad.mit.edu	37	11	103780540	103780540	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:103780540T>A	uc001phq.2	-	c.995A>T	c.(994-996)CAG>CTG	p.Q332L	PDGFD_uc001php.2_Missense_Mutation_p.Q326L	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	332					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			large_intestine(1)	1		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)										0.327526	270.651064	278.223073	94	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103780540	103780540	12081	11	T	A	A	A	715	55	PDGFD	3	3
CWF19L2	143884	broad.mit.edu	37	11	107288935	107288935	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:107288935C>A	uc010rvp.1	-	c.1512G>T	c.(1510-1512)GAG>GAT	p.E504D	CWF19L2_uc001pjh.3_Non-coding_Transcript|CWF19L2_uc009yxo.2_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	504	Potential.						catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)										0.206897	74.482525	88.363787	36	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107288935	107288935	4232	11	C	A	A	A	415	32	CWF19L2	2	2
EXPH5	23086	broad.mit.edu	37	11	108381673	108381673	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108381673C>A	uc001pkk.2	-	c.4561G>T	c.(4561-4563)GAG>TAG	p.E1521*	EXPH5_uc010rvy.1_Nonsense_Mutation_p.E1333*|EXPH5_uc010rvz.1_Nonsense_Mutation_p.E1365*|EXPH5_uc010rwa.1_Nonsense_Mutation_p.E1445*	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	1521					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)										0.633803	139.266408	140.37806	45	26	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108381673	108381673	5516	11	C	A	A	A	377	29	EXPH5	5	2
ARHGAP20	57569	broad.mit.edu	37	11	110451883	110451883	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:110451883A>C	uc001pkz.1	-	c.1787T>G	c.(1786-1788)GTT>GGT	p.V596G	ARHGAP20_uc001pky.1_Missense_Mutation_p.V573G|ARHGAP20_uc009yyb.1_Missense_Mutation_p.V560G|ARHGAP20_uc001pla.1_Missense_Mutation_p.V560G|ARHGAP20_uc001plb.2_Missense_Mutation_p.V139G	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	596					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)|kidney(2)	5		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)										0.287582	127.848245	134.03297	44	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110451883	110451883	881	11	A	C	C	C	26	2	ARHGAP20	4	4
BTG4	54766	broad.mit.edu	37	11	111368797	111368797	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111368797A>T	uc001plj.2	-	c.237T>A	c.(235-237)AGT>AGA	p.S79R	BTG4_uc001plk.2_Missense_Mutation_p.S79R	NM_017589	NP_060059	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	79					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation						0		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)										0.609649	450.685696	453.096681	139	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111368797	111368797	1590	11	A	T	T	T	180	14	BTG4	3	3
NCAM1	4684	broad.mit.edu	37	11	113105836	113105836	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113105836A>T	uc009yyq.1	+	c.1499A>T	c.(1498-1500)AAA>ATA	p.K500I		NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	592	Extracellular (Potential).|Fibronectin type-III 1.				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)						700				0.241379	15.108881	16.880076	7	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113105836	113105836	10601	11	A	T	T	T	13	1	NCAM1	3	3
ANKK1	255239	broad.mit.edu	37	11	113270007	113270007	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:113270007G>A	uc001pny.2	+	c.1316G>A	c.(1315-1317)GGG>GAG	p.G439E		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	439	ANK 3.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			lung(5)|ovary(1)|breast(1)	7		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)						305				0.705882	40.106322	40.75124	12	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113270007	113270007	634	11	G	A	A	A	559	43	ANKK1	2	2
GALNTL4	374378	broad.mit.edu	37	11	11362513	11362513	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:11362513G>A	uc001mjo.2	-	c.1131C>T	c.(1129-1131)TGC>TGT	p.C377C		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	377	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)										0.916849	1399.083287	1479.783634	419	38	KEEP	---	---	---	---	capture		Silent	SNP	11362513	11362513	6487	11	G	A	A	A	438	34	GALNTL4	2	2
GALNTL4	374378	broad.mit.edu	37	11	11362515	11362515	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:11362515A>T	uc001mjo.2	-	c.1129T>A	c.(1129-1131)TGC>AGC	p.C377S		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	377	Lumenal (Potential).|Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)										0.92053	1409.969429	1491.293577	417	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11362515	11362515	6487	11	A	T	T	T	91	7	GALNTL4	3	3
CEP164	22897	broad.mit.edu	37	11	117265080	117265080	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117265080G>T	uc001prc.2	+	c.2631G>T	c.(2629-2631)CGG>CGT	p.R877R	CEP164_uc001prb.2_Silent_p.R880R|CEP164_uc010rxk.1_Silent_p.R851R|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Silent_p.R310R	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	877	Glu-rich.				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)										0.529412	26.974401	26.98711	9	8	KEEP	---	---	---	---	capture		Silent	SNP	117265080	117265080	3382	11	G	T	T	T	548	43	CEP164	2	2
CEP164	22897	broad.mit.edu	37	11	117278678	117278678	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117278678G>T	uc001prc.2	+	c.3539G>T	c.(3538-3540)CGG>CTG	p.R1180L	CEP164_uc001prb.2_Missense_Mutation_p.R1183L|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.R613L	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1180	Potential.				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)										0.375	35.193528	35.631842	12	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117278678	117278678	3382	11	G	T	T	T	507	39	CEP164	1	1
DSCAML1	57453	broad.mit.edu	37	11	117310621	117310621	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117310621G>T	uc001prh.1	-	c.4074C>A	c.(4072-4074)ACC>ACA	p.T1358T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1298	Extracellular (Potential).|Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)										0.277778	93.379865	98.973531	35	91	KEEP	---	---	---	---	capture		Silent	SNP	117310621	117310621	4953	11	G	T	T	T	496	39	DSCAML1	1	1
IFT46	56912	broad.mit.edu	37	11	118428453	118428453	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118428453C>G	uc001pto.1	-	c.198G>C	c.(196-198)AAG>AAC	p.K66N	IFT46_uc001ptp.1_Intron|IFT46_uc009zaf.1_Missense_Mutation_p.K66N	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	IFT46	15					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding				0														0.253333	86.689983	94.970126	38	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118428453	118428453	7861	11	C	G	G	G	311	24	IFT46	3	3
CXCR5	643	broad.mit.edu	37	11	118764713	118764713	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:118764713G>A	uc001pue.3	+	c.460G>A	c.(460-462)GCC>ACC	p.A154T	CXCR5_uc001puf.2_Missense_Mutation_p.A109T	NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	154	Cytoplasmic (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)										0.204545	20.673931	24.220255	9	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118764713	118764713	4254	11	G	A	A	A	494	38	CXCR5	1	1
HINFP	25988	broad.mit.edu	37	11	119003699	119003699	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119003699G>A	uc001pvp.2	+	c.1001G>A	c.(1000-1002)CGC>CAC	p.R334H	HINFP_uc001pvq.2_Missense_Mutation_p.R334H|HINFP_uc001pvr.2_Missense_Mutation_p.R87H	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	334	C2H2-type 8.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|promoter binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription coactivator activity|zinc ion binding			pancreas(2)|ovary(1)	3														0.033149	-31.497756	11.535175	6	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119003699	119003699	7395	11	G	A	A	A	494	38	HINFP	1	1
TRIM29	23650	broad.mit.edu	37	11	119986053	119986053	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119986053G>T	uc001pwz.2	-	c.1697C>A	c.(1696-1698)ACT>AAT	p.T566N	TRIM29_uc001pwx.2_Non-coding_Transcript|TRIM29_uc001pwy.2_Missense_Mutation_p.T99N|TRIM29_uc010rzi.1_Missense_Mutation_p.T305N|TRIM29_uc010rzj.1_Missense_Mutation_p.T299N|TRIM29_uc001pxa.2_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	566					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)	3		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)										0.354839	31.015356	31.591367	11	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119986053	119986053	17047	11	G	T	T	T	468	36	TRIM29	2	2
TMEM136	219902	broad.mit.edu	37	11	120198204	120198204	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120198204G>T	uc001pxj.2	+	c.120G>T	c.(118-120)TCG>TCT	p.S40S	TMEM136_uc001pxg.2_Silent_p.S40S|TMEM136_uc010rzm.1_Silent_p.S18S|TMEM136_uc009zas.1_5'UTR|TMEM136_uc001pxh.1_Silent_p.S18S|TMEM136_uc001pxi.1_Intron	NM_174926	NP_777586	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	18	Helical; (Potential).					integral to membrane				ovary(1)	1		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)										0.581967	216.439593	217.195407	71	51	KEEP	---	---	---	---	capture		Silent	SNP	120198204	120198204	16584	11	G	T	T	T	483	38	TMEM136	1	1
ARHGEF12	23365	broad.mit.edu	37	11	120298878	120298878	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120298878G>T	uc001pxl.1	+	c.507G>T	c.(505-507)ATG>ATT	p.M169I	ARHGEF12_uc009zat.2_Missense_Mutation_p.M150I|ARHGEF12_uc010rzn.1_Missense_Mutation_p.M66I|ARHGEF12_uc009zau.1_Missense_Mutation_p.M66I	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	169					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)						1000				0.623729	609.745124	613.711305	184	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120298878	120298878	911	11	G	T	T	T	624	48	ARHGEF12	2	2
GRIK4	2900	broad.mit.edu	37	11	120831681	120831681	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120831681G>T	uc001pxn.2	+	c.1938G>T	c.(1936-1938)GTG>GTT	p.V646V	GRIK4_uc009zav.1_Silent_p.V646V|GRIK4_uc009zaw.1_Silent_p.V646V|GRIK4_uc009zax.1_Silent_p.V646V	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	646	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)									0.606061	127.151374	127.822675	40	26	KEEP	---	---	---	---	capture		Silent	SNP	120831681	120831681	7055	11	G	T	T	T	587	46	GRIK4	2	2
TECTA	7007	broad.mit.edu	37	11	121000422	121000422	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:121000422A>G	uc010rzo.1	+	c.2443A>G	c.(2443-2445)ACG>GCG	p.T815A		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	815	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)										0.268775	188.989461	201.198998	68	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121000422	121000422	16274	11	A	G	G	G	182	14	TECTA	4	4
SORL1	6653	broad.mit.edu	37	11	121491932	121491932	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:121491932A>G	uc001pxx.2	+	c.6049A>G	c.(6049-6051)ATA>GTA	p.I2017V	SORL1_uc010rzp.1_Missense_Mutation_p.I863V|SORL1_uc010rzq.1_Missense_Mutation_p.I632V	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	2017	Extracellular (Potential).|Fibronectin type-III 5.				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				0.225806	48.950195	55.464063	21	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121491932	121491932	15434	11	A	G	G	G	104	8	SORL1	4	4
GRAMD1B	57476	broad.mit.edu	37	11	123477487	123477487	+	Silent	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123477487T>G	uc001pyw.2	+	c.1086T>G	c.(1084-1086)TCT>TCG	p.S362S	GRAMD1B_uc001pyx.2_Silent_p.S355S|GRAMD1B_uc010rzw.1_Silent_p.S315S|GRAMD1B_uc010rzx.1_Silent_p.S315S|GRAMD1B_uc009zbe.1_Silent_p.S351S|GRAMD1B_uc001pyy.2_5'Flank	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	355						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)						1503				0.253061	145.301135	158.996332	62	183	KEEP	---	---	---	---	capture		Silent	SNP	123477487	123477487	7024	11	T	G	G	G	717	56	GRAMD1B	4	4
GRAMD1B	57476	broad.mit.edu	37	11	123485468	123485468	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123485468G>T	uc001pyw.2	+	c.1835G>T	c.(1834-1836)CGG>CTG	p.R612L	GRAMD1B_uc001pyx.2_Missense_Mutation_p.R605L|GRAMD1B_uc010rzw.1_Missense_Mutation_p.R565L|GRAMD1B_uc010rzx.1_Missense_Mutation_p.R565L|GRAMD1B_uc001pyy.2_Missense_Mutation_p.R296L	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	605						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)						1503				0.308943	108.628693	112.61635	38	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123485468	123485468	7024	11	G	T	T	T	507	39	GRAMD1B	1	1
OR4D5	219875	broad.mit.edu	37	11	123810906	123810906	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123810906T>C	uc001pzk.1	+	c.583T>C	c.(583-585)TTA>CTA	p.L195L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)										0.082803	10.012251	65.579544	26	288	KEEP	---	---	---	---	capture		Silent	SNP	123810906	123810906	11464	11	T	C	C	C	725	56	OR4D5	4	4
OR10G7	390265	broad.mit.edu	37	11	123909484	123909484	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:123909484C>A	uc001pzq.1	-	c.225G>T	c.(223-225)ACG>ACT	p.T75T		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G,	75	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)										0.131926	81.246926	131.08901	50	329	KEEP	---	---	---	---	capture		Silent	SNP	123909484	123909484	11308	11	C	A	A	A	288	23	OR10G7	1	1
ROBO3	64221	broad.mit.edu	37	11	124740532	124740532	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124740532G>A	uc001qbc.2	+	c.941G>A	c.(940-942)GGG>GAG	p.G314E		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3	314	Ig-like C2-type 3.|Extracellular (Potential).				axon midline choice point recognition	integral to membrane	receptor activity			breast(1)|central_nervous_system(1)	2	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)										0.142857	10.226593	15.385593	6	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124740532	124740532	13994	11	G	A	A	A	559	43	ROBO3	2	2
ROBO4	54538	broad.mit.edu	37	11	124767670	124767670	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:124767670G>T	uc001qbg.2	-	c.22C>A	c.(22-24)CTC>ATC	p.L8I	ROBO4_uc010sas.1_5'UTR|ROBO4_uc001qbh.2_Missense_Mutation_p.L8I|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	8					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)										0.322581	27.738978	28.605521	10	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124767670	124767670	13995	11	G	T	T	T	455	35	ROBO4	2	2
DDX25	29118	broad.mit.edu	37	11	125780320	125780320	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:125780320T>A	uc001qcz.3	+	c.569T>A	c.(568-570)ATG>AAG	p.M190K	DDX25_uc010sbk.1_Missense_Mutation_p.M190K	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 25	190	Helicase ATP-binding.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			ovary(1)	1	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)										0.285171	216.54709	227.421909	75	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125780320	125780320	4523	11	T	A	A	A	663	51	DDX25	3	3
ARHGAP32	9743	broad.mit.edu	37	11	128994765	128994766	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:128994765_128994766TC>AA	uc009zcp.2	-	c.249_250GA>TT	c.(247-252)GAGATT>GATTTT	p.83_84EI>DF	ARHGAP32_uc009zcq.1_Missense_Mutation_p.43_44EI>DF	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	83_84					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5														0.293103	139.839258	146.519423	51	123	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	128994765	128994766	893	11	TC	AA	AA	AA	650	50	ARHGAP32	3	3
APLP2	334	broad.mit.edu	37	11	129996650	129996650	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:129996650A>T	uc010sby.1	+	c.1146A>T	c.(1144-1146)GCA>GCT	p.A382A	APLP2_uc001qfp.2_Silent_p.A382A|APLP2_uc001qfq.2_Silent_p.A326A|APLP2_uc010sbz.1_Silent_p.A170A|APLP2_uc001qfr.2_Silent_p.A148A|APLP2_uc001qfs.2_Silent_p.A153A|APLP2_uc001qfv.2_Silent_p.A273A	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	382	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)										0.579137	537.620673	539.141419	161	117	KEEP	---	---	---	---	capture		Silent	SNP	129996650	129996650	790	11	A	T	T	T	80	7	APLP2	3	3
ADAMTS15	170689	broad.mit.edu	37	11	130319699	130319699	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:130319699C>A	uc010scd.1	+	c.831C>A	c.(829-831)TCC>TCA	p.S277S		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	277	Peptidase M12B.				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)								OREG0021518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.290909	39.763424	41.931561	16	39	KEEP	---	---	---	---	capture		Silent	SNP	130319699	130319699	261	11	C	A	A	A	288	23	ADAMTS15	1	1
ADAMTS15	170689	broad.mit.edu	37	11	130341207	130341208	+	Missense_Mutation	DNP	CG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:130341207_130341208CG>TT	uc010scd.1	+	c.2007_2008CG>TT	c.(2005-2010)TTCGAC>TTTTAC	p.D670Y		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	670	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)										0.236364	32.960354	36.445776	13	42	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	130341207	130341208	261	11	CG	TT	TT	TT	402	31	ADAMTS15	1	1
SNX19	399979	broad.mit.edu	37	11	130773244	130773244	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:130773244G>C	uc001qgk.3	-	c.2479C>G	c.(2479-2481)CTG>GTG	p.L827V	SNX19_uc009zcw.2_Missense_Mutation_p.L64V|SNX19_uc010sce.1_Missense_Mutation_p.L207V|SNX19_uc010scf.1_Missense_Mutation_p.L270V|SNX19_uc010scg.1_Missense_Mutation_p.L64V	NM_014758	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	827					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|lung(2)	4	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)						728				0.291971	115.943065	121.253857	40	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130773244	130773244	15390	11	G	C	C	C	425	33	SNX19	3	3
NTM	50863	broad.mit.edu	37	11	132016219	132016219	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:132016219C>A	uc010sci.1	+	c.211C>A	c.(211-213)CGC>AGC	p.R71S	NTM_uc001qgm.2_Missense_Mutation_p.R71S|NTM_uc010sch.1_Missense_Mutation_p.R62S|NTM_uc010scj.1_Missense_Mutation_p.R30S|NTM_uc001qgo.2_Missense_Mutation_p.R71S|NTM_uc001qgq.2_Missense_Mutation_p.R71S|NTM_uc001qgp.2_Missense_Mutation_p.R71S	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	neurotrimin isoform 3	71	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.R71C(1)		ovary(4)|central_nervous_system(1)	5														0.296774	124.697853	130.418689	46	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132016219	132016219	11104	11	C	A	A	A	299	23	NTM	1	1
PDE3B	5140	broad.mit.edu	37	11	14856571	14856571	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:14856571G>T	uc001mln.2	+	c.2250G>T	c.(2248-2250)TGG>TGT	p.W750C	PDE3B_uc010rcr.1_Missense_Mutation_p.W699C	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	750	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of cAMP-mediated signaling|negative regulation of cell adhesion mediated by integrin|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0														0.413223	150.542347	151.333766	50	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14856571	14856571	12059	11	G	T	T	T	572	44	PDE3B	2	2
SOX6	55553	broad.mit.edu	37	11	16010602	16010602	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:16010602C>T	uc001mme.2	-	c.1946G>A	c.(1945-1947)AGG>AAG	p.R649K	SOX6_uc001mmd.2_Missense_Mutation_p.R612K|SOX6_uc001mmf.2_Missense_Mutation_p.R609K|SOX6_uc001mmg.2_Missense_Mutation_p.R616K	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	636	HMG box.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3												OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.325581	158.92292	163.575044	56	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16010602	16010602	15455	11	C	T	T	T	312	24	SOX6	2	2
MYOD1	4654	broad.mit.edu	37	11	17741528	17741528	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17741528G>T	uc001mni.2	+	c.199G>T	c.(199-201)GCG>TCG	p.A67S		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	67					muscle cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3														0.92	73.008836	77.122362	23	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17741528	17741528	10483	11	G	T	T	T	494	38	MYOD1	1	1
MYOD1	4654	broad.mit.edu	37	11	17741777	17741777	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17741777C>A	uc001mni.2	+	c.448C>A	c.(448-450)CTG>ATG	p.L150M		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	150	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3														0.444444	33.573199	33.648746	12	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17741777	17741777	10483	11	C	A	A	A	311	24	MYOD1	2	2
SPTY2D1	144108	broad.mit.edu	37	11	18636397	18636397	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18636397A>C	uc001moy.2	-	c.1424T>G	c.(1423-1425)CTT>CGT	p.L475R	SPTY2D1_uc010rdi.1_Missense_Mutation_p.L475R	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1	475	Ser-rich.									breast(1)	1														0.410256	45.369545	45.649051	16	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18636397	18636397	15640	11	A	C	C	C	39	3	SPTY2D1	4	4
E2F8	79733	broad.mit.edu	37	11	19261656	19261656	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:19261656T>C	uc001mpm.2	-	c.13A>G	c.(13-15)AAG>GAG	p.K5E	E2F8_uc009yhv.2_Non-coding_Transcript|E2F8_uc001mpn.3_Missense_Mutation_p.K5E|E2F8_uc001mpo.1_Missense_Mutation_p.K5E	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	5					cell cycle|regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity				0														0.109375	9.28442	18.947635	7	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19261656	19261656	5059	11	T	C	C	C	832	64	E2F8	4	4
TNNT3	7140	broad.mit.edu	37	11	1953717	1953717	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:1953717C>A	uc001luu.3	+	c.144C>A	c.(142-144)ATC>ATA	p.I48I	TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.3_Silent_p.I40I|TNNT3_uc001luo.3_Silent_p.I40I|TNNT3_uc001lup.3_Silent_p.I46I|TNNT3_uc001luq.3_Silent_p.I40I|TNNT3_uc001lur.2_Silent_p.I40I|TNNT3_uc010qxf.1_Silent_p.I46I|TNNT3_uc010qxg.1_5'UTR|TNNT3_uc001lut.1_Non-coding_Transcript|TNNT3_uc001lus.1_Non-coding_Transcript	NM_006757	NP_006748	P45378	TNNT3_HUMAN	troponin T3, skeletal, fast isoform 1	59					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding				0		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)										0.903226	91.42154	96.470417	28	3	KEEP	---	---	---	---	capture		Silent	SNP	1953717	1953717	16873	11	C	A	A	A	382	30	TNNT3	2	2
SLC17A6	57084	broad.mit.edu	37	11	22398157	22398157	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:22398157G>T	uc001mqk.2	+	c.1352G>T	c.(1351-1353)GGT>GTT	p.G451V		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	451	Helical; (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4														0.635593	244.451964	246.360263	75	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22398157	22398157	14917	11	G	T	T	T	572	44	SLC17A6	2	2
MUC15	143662	broad.mit.edu	37	11	26584732	26584732	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:26584732A>G	uc001mqw.2	-	c.856T>C	c.(856-858)TTG>CTG	p.L286L	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqx.2_Silent_p.L259L|MUC15_uc001mqy.2_Intron	NM_001135091	NP_001128563	Q8N387	MUC15_HUMAN	mucin 15 isoform a	259	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.086124	10.983359	47.257434	18	191	KEEP	---	---	---	---	capture		Silent	SNP	26584732	26584732	10366	11	A	G	G	G	37	3	MUC15	4	4
SLC22A18	5002	broad.mit.edu	37	11	2940624	2940624	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:2940624G>T	uc001lwx.2	+	c.851G>T	c.(850-852)GGG>GTG	p.G284V	SLC22A18_uc001lwy.2_Missense_Mutation_p.G284V|SLC22A18_uc001lwz.2_Missense_Mutation_p.G186V	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	tumor suppressing subtransferable candidate 5	284	Helical; (Potential).				excretion|organic cation transport|response to antibiotic	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	symporter activity|tetracycline:hydrogen antiporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|ovary(1)	3		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)										0.894737	58.491141	61.431018	17	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2940624	2940624	14945	11	G	T	T	T	559	43	SLC22A18	2	2
DCDC1	341019	broad.mit.edu	37	11	31327937	31327937	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31327937T>A	uc001msv.2	-	c.435_splice	c.e5-1	p.R145_splice	DCDC1_uc001msu.1_Splice_Site_SNP	NM_181807	NP_861523			doublecortin domain containing 1						intracellular signal transduction						0	Lung SC(675;0.225)													0.958333	260.777614	266.897706	69	3	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	31327937	31327937	4455	11	T	A	A	A	715	55	DCDC1	5	3
C11orf41	25758	broad.mit.edu	37	11	33596337	33596337	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:33596337C>A	uc001mup.3	+	c.3447C>A	c.(3445-3447)ACC>ACA	p.T1149T	C11orf41_uc001mun.1_Silent_p.T1149T	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1143						integral to membrane				ovary(2)	2														0.320113	307.720472	317.833762	113	240	KEEP	---	---	---	---	capture		Silent	SNP	33596337	33596337	1679	11	C	A	A	A	288	23	C11orf41	1	1
NAT10	55226	broad.mit.edu	37	11	34149018	34149018	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:34149018T>C	uc001mvk.2	+	c.1116T>C	c.(1114-1116)CAT>CAC	p.H372H	NAT10_uc010ren.1_Silent_p.H300H	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	372						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)												0.064516	-23.306878	68.347591	30	435	KEEP	---	---	---	---	capture		Silent	SNP	34149018	34149018	10570	11	T	C	C	C	647	50	NAT10	4	4
PDHX	8050	broad.mit.edu	37	11	34988231	34988231	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:34988231C>A	uc001mvt.2	+	c.686C>A	c.(685-687)ACC>AAC	p.T229N	PDHX_uc010rep.1_Missense_Mutation_p.T214N|PDHX_uc010req.1_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	229					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			kidney(1)	1	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)											0.172862	194.259325	248.625865	93	445	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34988231	34988231	12088	11	C	A	A	A	234	18	PDHX	2	2
RAG1	5896	broad.mit.edu	37	11	36597979	36597979	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36597979A>G	uc001mwu.3	+	c.3125A>G	c.(3124-3126)GAA>GGA	p.E1042G	RAG1_uc001mwt.2_Intron	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	1042					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4	all_lung(20;0.226)	all_hematologic(20;0.107)				Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)				117				0.217993	165.472559	186.656796	63	226	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36597979	36597979	13463	11	A	G	G	G	117	9	RAG1	4	4
ACCSL	390110	broad.mit.edu	37	11	44074273	44074273	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:44074273A>G	uc001mxw.1	+	c.834A>G	c.(832-834)GCA>GCG	p.A278A	ACCSL_uc009ykr.2_Silent_p.A97A	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	278							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5														0.054094	-65.294039	78.099143	37	647	KEEP	---	---	---	---	capture		Silent	SNP	44074273	44074273	135	11	A	G	G	G	54	5	ACCSL	4	4
OR52K1	390036	broad.mit.edu	37	11	4510679	4510679	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4510679C>A	uc001lza.1	+	c.549C>A	c.(547-549)CAC>CAA	p.H183Q		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	183	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;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)										0.927928	719.879904	759.549548	206	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4510679	4510679	11533	11	C	A	A	A	220	17	OR52K1	2	2
OR51D1	390038	broad.mit.edu	37	11	4661117	4661117	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4661117G>A	uc010qyk.1	+	c.97G>A	c.(97-99)GGG>AGG	p.G33R		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	33	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.562	908.782656	910.458833	281	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4661117	4661117	11503	11	G	A	A	A	559	43	OR51D1	2	2
LRP4	4038	broad.mit.edu	37	11	46924422	46924422	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:46924422A>T	uc001ndn.3	-	c.111T>A	c.(109-111)AGT>AGA	p.S37R	LRP4_uc009ylh.1_Intron	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	37	Extracellular (Potential).|LDL-receptor class A 1.				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)										0.180328	22.900708	28.752265	11	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46924422	46924422	9332	11	A	T	T	T	76	6	LRP4	3	3
PACSIN3	29763	broad.mit.edu	37	11	47203976	47203976	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47203976C>A	uc001ndw.2	-	c.189G>T	c.(187-189)AAG>AAT	p.K63N	PACSIN3_uc001ndx.2_Missense_Mutation_p.K63N|PACSIN3_uc001ndy.2_Missense_Mutation_p.K63N|PACSIN3_uc001ndz.2_Non-coding_Transcript|PACSIN3_uc001nea.2_Non-coding_Transcript	NM_016223	NP_057307	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in	63	FCH.				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding				0														0.390625	70.241966	70.917746	25	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47203976	47203976	11792	11	C	A	A	A	259	20	PACSIN3	2	2
AGBL2	79841	broad.mit.edu	37	11	47698822	47698822	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47698822C>A	uc001ngg.2	-	c.2147_splice	c.e13+1	p.S716_splice	AGBL2_uc001ngf.2_Splice_Site_SNP|AGBL2_uc010rhq.1_Splice_Site_SNP_p.S678_splice|AGBL2_uc001ngh.1_Intron	NM_024783	NP_079059			carboxypeptidase 2, cytosolic						proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2														0.380952	48.290402	48.812344	16	26	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	47698822	47698822	378	11	C	A	A	A	234	18	AGBL2	5	2
FNBP4	23360	broad.mit.edu	37	11	47774472	47774472	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:47774472T>A	uc009ylv.2	-	c.633A>T	c.(631-633)GCA>GCT	p.A211A	FNBP4_uc001ngj.2_Silent_p.A118A|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	211										ovary(1)	1														0.637037	288.181972	290.411952	86	49	KEEP	---	---	---	---	capture		Silent	SNP	47774472	47774472	6209	11	T	A	A	A	704	55	FNBP4	3	3
OR4C3	256144	broad.mit.edu	37	11	48347428	48347428	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:48347428T>A	uc010rhv.1	+	c.936T>A	c.(934-936)TAT>TAA	p.Y312*		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.322674	310.424668	320.018605	111	233	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48347428	48347428	11456	11	T	A	A	A	634	49	OR4C3	5	3
OR4A47	403253	broad.mit.edu	37	11	48510568	48510568	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:48510568T>G	uc010rhx.1	+	c.224T>G	c.(223-225)ATT>AGT	p.I75S		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.41039	520.313134	523.003794	158	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48510568	48510568	11448	11	T	G	G	G	676	52	OR4A47	4	4
FOLH1	2346	broad.mit.edu	37	11	49207376	49207376	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:49207376C>G	uc001ngy.2	-	c.671G>C	c.(670-672)GGA>GCA	p.G224A	FOLH1_uc001ngz.2_Missense_Mutation_p.G224A|FOLH1_uc009yly.2_Missense_Mutation_p.G209A|FOLH1_uc009ylz.2_Missense_Mutation_p.G209A|FOLH1_uc009yma.2_Intron	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	224	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)	1					Capromab(DB00089)|L-Glutamic Acid(DB00142)									0.188406	61.156301	73.714463	26	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49207376	49207376	6221	11	C	G	G	G	390	30	FOLH1	3	3
OR51G1	79324	broad.mit.edu	37	11	4945559	4945559	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4945559A>C	uc010qyr.1	-	c.11T>G	c.(10-12)CTT>CGT	p.L4R		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.367816	80.350746	81.696559	32	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4945559	4945559	11508	11	A	C	C	C	39	3	OR51G1	4	4
OR4C12	283093	broad.mit.edu	37	11	50003201	50003201	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:50003201C>A	uc010ria.1	-	c.837G>T	c.(835-837)ATG>ATT	p.M279I		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	279	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.368644	264.57541	268.149732	87	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50003201	50003201	11452	11	C	A	A	A	221	17	OR4C12	2	2
OR4C12	283093	broad.mit.edu	37	11	50003744	50003744	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:50003744T>C	uc010ria.1	-	c.294A>G	c.(292-294)CAA>CAG	p.Q98Q		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.078402	6.740189	129.533689	53	623	KEEP	---	---	---	---	capture		Silent	SNP	50003744	50003744	11452	11	T	C	C	C	725	56	OR4C12	4	4
OR4C12	283093	broad.mit.edu	37	11	50003863	50003863	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:50003863A>C	uc010ria.1	-	c.175T>G	c.(175-177)TTC>GTC	p.F59V		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	59	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.190661	89.172785	112.240907	49	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50003863	50003863	11452	11	A	C	C	C	39	3	OR4C12	4	4
OR51V1	283111	broad.mit.edu	37	11	5221133	5221133	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5221133G>T	uc010qyz.1	-	c.798C>A	c.(796-798)AGC>AGA	p.S266R		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V,	266	Helical; Name=6; (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)										0.918699	364.744461	386.71776	113	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5221133	5221133	11517	11	G	T	T	T	542	42	OR51V1	2	2
OR51B4	79339	broad.mit.edu	37	11	5322897	5322897	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5322897C>A	uc010qza.1	-	c.280G>T	c.(280-282)GCC>TCC	p.A94S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.92228	595.567503	629.72932	178	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5322897	5322897	11500	11	C	A	A	A	325	25	OR51B4	2	2
OR51I2	390064	broad.mit.edu	37	11	5474877	5474877	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5474877C>A	uc010qzf.1	+	c.159C>A	c.(157-159)CCC>CCA	p.P53P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.900662	459.337459	483.778321	136	15	KEEP	---	---	---	---	capture		Silent	SNP	5474877	5474877	11511	11	C	A	A	A	262	21	OR51I2	2	2
TRIM48	79097	broad.mit.edu	37	11	55032609	55032609	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55032609C>A	uc010rid.1	+	c.278C>A	c.(277-279)GCC>GAC	p.A93D		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	77						intracellular	zinc ion binding				0														0.619048	123.535987	124.318363	39	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55032609	55032609	17068	11	C	A	A	A	338	26	TRIM48	2	2
TRIM48	79097	broad.mit.edu	37	11	55036730	55036730	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55036730G>T	uc010rid.1	+	c.591G>T	c.(589-591)GTG>GTT	p.V197V		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	181						intracellular	zinc ion binding				0														0.387755	51.286969	51.83548	19	30	KEEP	---	---	---	---	capture		Silent	SNP	55036730	55036730	17068	11	G	T	T	T	587	46	TRIM48	2	2
OR4A16	81327	broad.mit.edu	37	11	55111453	55111453	+	Silent	SNP	C	T	T	rs79231280	by1000genomes	TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55111453C>T	uc010rie.1	+	c.777C>T	c.(775-777)CCC>CCT	p.P259P		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3														0.311828	83.015125	85.907721	29	64	KEEP	---	---	---	---	capture		Silent	SNP	55111453	55111453	11447	11	C	T	T	T	288	23	OR4A16	1	1
OR4A15	81328	broad.mit.edu	37	11	55136147	55136147	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55136147A>T	uc010rif.1	+	c.788A>T	c.(787-789)AAA>ATA	p.K263I		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	263	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.084034	0.839279	42.642796	20	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55136147	55136147	11446	11	A	T	T	T	13	1	OR4A15	3	3
OR4A15	81328	broad.mit.edu	37	11	55136265	55136265	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55136265T>A	uc010rif.1	+	c.906T>A	c.(904-906)GTT>GTA	p.V302V		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	302	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.614973	701.986746	706.312687	230	144	KEEP	---	---	---	---	capture		Silent	SNP	55136265	55136265	11446	11	T	A	A	A	795	62	OR4A15	3	3
OR4A15	81328	broad.mit.edu	37	11	55136271	55136271	+	Silent	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55136271T>G	uc010rif.1	+	c.912T>G	c.(910-912)ACT>ACG	p.T304T		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	304	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.322404	325.027234	335.2751	118	248	KEEP	---	---	---	---	capture		Silent	SNP	55136271	55136271	11446	11	T	G	G	G	717	56	OR4A15	4	4
UBQLN3	50613	broad.mit.edu	37	11	5530706	5530706	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5530706G>T	uc001may.1	-	c.83C>A	c.(82-84)ACG>AAG	p.T28K	HBG2_uc001mak.1_Intron	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	ubiquilin 3	28	Ubiquitin-like.									ovary(3)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		Ovarian(72;684 1260 12332 41642 52180)								0.6625	179.599468	181.469591	53	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5530706	5530706	17456	11	G	T	T	T	520	40	UBQLN3	1	1
OR5D13	390142	broad.mit.edu	37	11	55541412	55541412	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55541412G>T	uc010ril.1	+	c.499G>T	c.(499-501)GAC>TAC	p.D167Y		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		all_epithelial(135;0.196)												0.295775	216.587283	227.184475	84	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55541412	55541412	11564	11	G	T	T	T	585	45	OR5D13	2	2
OR5D13	390142	broad.mit.edu	37	11	55541613	55541613	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55541613A>C	uc010ril.1	+	c.700A>C	c.(700-702)AGT>CGT	p.S234R		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		all_epithelial(135;0.196)												0.090426	7.432367	39.243396	17	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55541613	55541613	11564	11	A	C	C	C	39	3	OR5D13	4	4
OR5L1	219437	broad.mit.edu	37	11	55579717	55579717	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55579717T>C	uc001nhw.1	+	c.775T>C	c.(775-777)TAT>CAT	p.Y259H		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		all_epithelial(135;0.208)												0.349398	186.810549	190.128071	58	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55579717	55579717	11580	11	T	C	C	C	793	61	OR5L1	4	4
SPRYD5	84767	broad.mit.edu	37	11	55657435	55657435	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55657435T>A	uc010rip.1	+	c.779T>A	c.(778-780)CTG>CAG	p.L260Q	SPRYD5_uc010riq.1_Missense_Mutation_p.L117Q	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	260						intracellular	zinc ion binding				0		all_epithelial(135;0.226)												0.188119	41.363972	50.56237	19	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55657435	55657435	15625	11	T	A	A	A	715	55	SPRYD5	3	3
OR5W2	390148	broad.mit.edu	37	11	55681959	55681959	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55681959C>T	uc010rir.1	-	c.100G>A	c.(100-102)GTT>ATT	p.V34I		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						Melanoma(48;171 1190 15239 43886 49348)								0.32716	143.714903	148.009536	53	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55681959	55681959	11595	11	C	T	T	T	221	17	OR5W2	2	2
OR5F1	338674	broad.mit.edu	37	11	55761807	55761807	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55761807G>T	uc010riv.1	-	c.295C>A	c.(295-297)CTA>ATA	p.L99I		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	99	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)													0.35274	276.591755	282.194472	103	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55761807	55761807	11568	11	G	T	T	T	451	35	OR5F1	2	2
OR5AS1	219447	broad.mit.edu	37	11	55798329	55798329	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55798329T>C	uc010riw.1	+	c.435T>C	c.(433-435)ATT>ATC	p.I145I		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)	4	Esophageal squamous(21;0.00693)													0.28629	185.621647	195.785682	71	177	KEEP	---	---	---	---	capture		Silent	SNP	55798329	55798329	11556	11	T	C	C	C	809	63	OR5AS1	4	4
OR5AS1	219447	broad.mit.edu	37	11	55798664	55798664	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55798664T>G	uc010riw.1	+	c.770T>G	c.(769-771)TTT>TGT	p.F257C		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	257	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)	4	Esophageal squamous(21;0.00693)													0.361111	196.325223	199.381444	65	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55798664	55798664	11556	11	T	G	G	G	832	64	OR5AS1	4	4
OR5J2	282775	broad.mit.edu	37	11	55944611	55944611	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55944611C>A	uc010rjb.1	+	c.518C>A	c.(517-519)GCT>GAT	p.A173D		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)													0.268908	78.740214	84.483467	32	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55944611	55944611	11575	11	C	A	A	A	364	28	OR5J2	2	2
OR5J2	282775	broad.mit.edu	37	11	55944894	55944894	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55944894T>A	uc010rjb.1	+	c.801T>A	c.(799-801)TTT>TTA	p.F267L		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)													0.27907	131.428111	138.977823	48	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55944894	55944894	11575	11	T	A	A	A	816	63	OR5J2	3	3
OR5T2	219464	broad.mit.edu	37	11	56000231	56000231	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56000231C>A	uc010rjc.1	-	c.431G>T	c.(430-432)TGT>TTT	p.C144F		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T,	144	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)													0.259414	162.538893	175.068469	62	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56000231	56000231	11592	11	C	A	A	A	221	17	OR5T2	2	2
OR5T3	390154	broad.mit.edu	37	11	56020091	56020091	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56020091C>A	uc010rjd.1	+	c.416C>A	c.(415-417)ACT>AAT	p.T139N		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	139	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)													0.26556	175.90661	187.865424	64	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56020091	56020091	11593	11	C	A	A	A	260	20	OR5T3	2	2
OR5T1	390155	broad.mit.edu	37	11	56043691	56043691	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56043691A>G	uc001nio.1	+	c.577A>G	c.(577-579)ATG>GTG	p.M193V		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)													0.637037	885.035149	891.740403	258	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56043691	56043691	11591	11	A	G	G	G	208	16	OR5T1	4	4
OR8K3	219473	broad.mit.edu	37	11	56086192	56086192	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56086192C>A	uc010rjf.1	+	c.410C>A	c.(409-411)TCA>TAA	p.S137*		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)													0.263473	109.041088	117.480716	44	123	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56086192	56086192	11655	11	C	A	A	A	377	29	OR8K3	5	2
OR5M9	390162	broad.mit.edu	37	11	56230560	56230560	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56230560G>A	uc010rjj.1	-	c.318C>T	c.(316-318)GTC>GTT	p.V106V		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(21;0.00448)													0.568966	418.167393	419.121229	132	100	KEEP	---	---	---	---	capture		Silent	SNP	56230560	56230560	11587	11	G	A	A	A	522	41	OR5M9	2	2
OR5M10	390167	broad.mit.edu	37	11	56344651	56344651	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56344651G>C	uc001niz.1	-	c.547C>G	c.(547-549)CCT>GCT	p.P183A		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.294686	176.189816	184.000046	61	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56344651	56344651	11583	11	G	C	C	C	533	41	OR5M10	3	3
OR5AP2	338675	broad.mit.edu	37	11	56409188	56409188	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56409188G>A	uc001njb.1	-	c.728C>T	c.(727-729)GCC>GTC	p.A243V		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	243	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3														0.29805	275.218803	288.28936	107	252	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56409188	56409188	11554	11	G	A	A	A	546	42	OR5AP2	2	2
OR9G9	504191	broad.mit.edu	37	11	56468742	56468742	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56468742T>C	uc010rjn.1	+	c.879T>C	c.(877-879)AAT>AAC	p.N293N		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	293	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.108247	27.142367	56.642311	21	173	KEEP	---	---	---	---	capture		Silent	SNP	56468742	56468742	11663	11	T	C	C	C	634	49	OR9G9	4	4
OR9G4	283189	broad.mit.edu	37	11	56511219	56511219	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:56511219G>T	uc010rjo.1	-	c.69C>A	c.(67-69)ATC>ATA	p.I23I		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	23	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.288991	155.896561	164.626378	63	155	KEEP	---	---	---	---	capture		Silent	SNP	56511219	56511219	11662	11	G	T	T	T	525	41	OR9G4	2	2
SLC43A3	29015	broad.mit.edu	37	11	57193471	57193471	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57193471C>A	uc010rjr.1	-	c.175G>T	c.(175-177)GGG>TGG	p.G59W	PRG2_uc001nke.2_5'Flank|SLC43A3_uc001nkg.2_Missense_Mutation_p.G59W|SLC43A3_uc001nkh.2_Missense_Mutation_p.G59W|SLC43A3_uc009yme.2_Missense_Mutation_p.G59W|SLC43A3_uc001nki.2_Missense_Mutation_p.G59W|SLC43A3_uc009ymf.1_Missense_Mutation_p.G59W|SLC43A3_uc010rjs.1_Missense_Mutation_p.G59W|SLC43A3_uc009ymg.1_Missense_Mutation_p.G59W	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	59					transmembrane transport	integral to membrane				central_nervous_system(1)	1														0.314815	186.421378	193.0126	68	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57193471	57193471	15131	11	C	A	A	A	312	24	SLC43A3	2	2
OR9I1	219954	broad.mit.edu	37	11	57885982	57885982	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57885982A>C	uc001nml.1	-	c.935T>G	c.(934-936)CTG>CGG	p.L312R	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	312	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)												0.100467	28.483639	96.76653	43	385	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57885982	57885982	11664	11	A	C	C	C	91	7	OR9I1	4	4
OR9I1	219954	broad.mit.edu	37	11	57886033	57886033	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57886033T>G	uc001nml.1	-	c.884A>C	c.(883-885)AAA>ACA	p.K295T	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)												0.116456	64.675325	121.850121	46	349	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57886033	57886033	11664	11	T	G	G	G	832	64	OR9I1	4	4
OR9I1	219954	broad.mit.edu	37	11	57886573	57886573	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57886573A>T	uc001nml.1	-	c.344T>A	c.(343-345)CTG>CAG	p.L115Q	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)												0.324503	139.530425	143.65383	49	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57886573	57886573	11664	11	A	T	T	T	91	7	OR9I1	3	3
OR9Q1	219956	broad.mit.edu	37	11	57946994	57946994	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57946994T>C	uc001nmj.2	+	c.78T>C	c.(76-78)CCT>CCC	p.P26P		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	26	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)												0.31746	351.767926	363.024809	120	258	KEEP	---	---	---	---	capture		Silent	SNP	57946994	57946994	11666	11	T	C	C	C	691	54	OR9Q1	4	4
OR9Q1	219956	broad.mit.edu	37	11	57947584	57947584	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57947584T>C	uc001nmj.2	+	c.668T>C	c.(667-669)GTG>GCG	p.V223A		NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q,	223	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.222)												0.633987	611.906524	616.711863	194	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57947584	57947584	11666	11	T	C	C	C	767	59	OR9Q1	4	4
OR1S2	219958	broad.mit.edu	37	11	57970791	57970791	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57970791G>C	uc010rkb.1	-	c.863C>G	c.(862-864)GCT>GGT	p.A288G		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	288	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)												0.609195	356.114431	357.918413	106	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57970791	57970791	11379	11	G	C	C	C	442	34	OR1S2	3	3
OR1S1	219959	broad.mit.edu	37	11	57982334	57982334	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:57982334C>T	uc010rkc.1	+	c.118C>T	c.(118-120)CTC>TTC	p.L40F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Breast(21;0.0589)												0.59542	527.367315	529.467113	156	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57982334	57982334	11378	11	C	T	T	T	312	24	OR1S1	2	2
OR5B21	219968	broad.mit.edu	37	11	58275240	58275240	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:58275240C>A	uc010rki.1	-	c.339G>T	c.(337-339)CTG>CTT	p.L113L		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)												0.267559	200.493437	215.074715	80	219	KEEP	---	---	---	---	capture		Silent	SNP	58275240	58275240	11561	11	C	A	A	A	262	21	OR5B21	2	2
OR52N2	390077	broad.mit.edu	37	11	5841866	5841866	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5841866G>T	uc010qzp.1	+	c.301G>T	c.(301-303)GCC>TCC	p.A101S	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	101	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.902098	847.839308	894.123336	258	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5841866	5841866	11538	11	G	T	T	T	546	42	OR52N2	2	2
OR10V1	390201	broad.mit.edu	37	11	59481231	59481232	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59481231_59481232CC>AA	uc001nof.1	-	c.87_88GG>TT	c.(85-90)GTGGTC>GTTTTC	p.V30F		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V,	30	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.220183	58.351086	66.203079	24	85	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	59481231	59481232	11326	11	CC	AA	AA	AA	234	18	OR10V1	2	2
TCN1	6947	broad.mit.edu	37	11	59620692	59620692	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59620692G>A	uc001noj.2	-	c.1224C>T	c.(1222-1224)GGC>GGT	p.G408G		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	408					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(1)	1		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.332215	254.141772	261.565315	99	199	KEEP	---	---	---	---	capture		Silent	SNP	59620692	59620692	16232	11	G	A	A	A	483	38	TCN1	1	1
PLAC1L	219990	broad.mit.edu	37	11	59812175	59812175	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59812175C>A	uc001nol.2	+	c.275C>A	c.(274-276)ACC>AAC	p.T92N		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	placenta-specific 1-like precursor	92						extracellular region				ovary(2)	2														0.262626	69.569927	74.575289	26	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59812175	59812175	12439	11	C	A	A	A	234	18	PLAC1L	2	2
MS4A3	932	broad.mit.edu	37	11	59834493	59834493	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:59834493C>G	uc001nom.2	+	c.421C>G	c.(421-423)CTA>GTA	p.L141V	MS4A3_uc001non.2_Missense_Mutation_p.L95V|MS4A3_uc001noo.2_Missense_Mutation_p.L18V	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member	141	Helical; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			ovary(2)	2		all_epithelial(135;0.245)												0.541667	89.951472	90.023742	26	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59834493	59834493	10254	11	C	G	G	G	259	20	MS4A3	3	3
MS4A6E	245802	broad.mit.edu	37	11	60102465	60102465	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60102465G>A	uc001npd.2	+	c.97G>A	c.(97-99)GGG>AGG	p.G33R		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member	33	Cytoplasmic (Potential).					integral to membrane	receptor activity				0														0.616541	278.277286	279.85992	82	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60102465	60102465	10258	11	G	A	A	A	559	43	MS4A6E	2	2
MS4A7	58475	broad.mit.edu	37	11	60156904	60156904	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60156904T>C	uc001npe.2	+	c.381T>C	c.(379-381)ACT>ACC	p.T127T	MS4A7_uc001npf.2_Silent_p.T127T|MS4A7_uc001npg.2_Silent_p.T82T|MS4A7_uc001nph.2_Silent_p.T82T|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Silent_p.T82T	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	127	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2														0.25641	47.623923	51.858084	20	58	KEEP	---	---	---	---	capture		Silent	SNP	60156904	60156904	10259	11	T	C	C	C	704	55	MS4A7	4	4
MS4A12	54860	broad.mit.edu	37	11	60264992	60264992	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60264992A>C	uc001npr.2	+	c.201A>C	c.(199-201)CAA>CAC	p.Q67H	MS4A12_uc009ynb.2_Missense_Mutation_p.Q67H	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member	67	Cytoplasmic (Potential).					integral to membrane	receptor activity				0														0.327869	49.073338	50.679119	20	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60264992	60264992	10249	11	A	C	C	C	37	3	MS4A12	4	4
ZP1	22917	broad.mit.edu	37	11	60635067	60635067	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60635067C>G	uc001nqd.2	+	c.33C>G	c.(31-33)TAC>TAG	p.Y11*	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	11					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0														0.272727	17.241447	18.264902	6	16	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	60635067	60635067	18819	11	C	G	G	G	233	18	ZP1	5	3
VWCE	220001	broad.mit.edu	37	11	61035004	61035004	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61035004G>A	uc001nra.2	-	c.1895C>T	c.(1894-1896)ACA>ATA	p.T632I	VWCE_uc001nrb.2_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	632	VWFC 5.					extracellular region	calcium ion binding			ovary(1)	1														0.653846	413.818849	418.161328	136	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61035004	61035004	17816	11	G	A	A	A	624	48	VWCE	2	2
DAK	26007	broad.mit.edu	37	11	61106796	61106796	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61106796C>A	uc001nre.2	+	c.375C>A	c.(373-375)GCC>GCA	p.A125A	DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_Silent_p.A55A	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	125	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0														0.227273	32.528401	37.011368	15	51	KEEP	---	---	---	---	capture		Silent	SNP	61106796	61106796	4395	11	C	A	A	A	275	22	DAK	2	2
TMEM138	51524	broad.mit.edu	37	11	61133627	61133627	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61133627G>T	uc010rli.1	+	c.239G>T	c.(238-240)GGG>GTG	p.G80V	TMEM138_uc001nrl.1_Missense_Mutation_p.G80V|TMEM138_uc001nrm.2_Missense_Mutation_p.G80V	NM_016464	NP_057548	Q9NPI0	TM138_HUMAN	transmembrane protein 138	80	Helical; (Potential).					integral to membrane					0														0.242718	60.627786	66.841714	25	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61133627	61133627	16585	11	G	T	T	T	559	43	TMEM138	2	2
AHNAK	79026	broad.mit.edu	37	11	62289878	62289878	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62289878G>A	uc001ntl.2	-	c.12011C>T	c.(12010-12012)CCT>CTT	p.P4004L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4004					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.281768	292.007368	307.491817	102	260	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62289878	62289878	417	11	G	A	A	A	455	35	AHNAK	2	2
EML3	256364	broad.mit.edu	37	11	62375672	62375672	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62375672C>A	uc001ntu.1	-	c.1206_splice	c.e10+1	p.K402_splice	EML3_uc001ntr.1_Splice_Site_SNP_p.K374_splice|EML3_uc001nts.1_Splice_Site_SNP_p.K374_splice|EML3_uc001ntt.1_Splice_Site_SNP_p.K286_splice|EML3_uc010rly.1_Splice_Site_SNP_p.K402_splice|EML3_uc009yny.1_Splice_Site_SNP_p.K185_splice	NM_153265	NP_694997			echinoderm microtubule associated protein like							cytoplasm|microtubule	protein binding				0														0.364583	209.499067	212.595694	70	122	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	62375672	62375672	5290	11	C	A	A	A	234	18	EML3	5	2
SLC3A2	6520	broad.mit.edu	37	11	62656036	62656036	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62656036C>T	uc001nwb.2	+	c.1857C>T	c.(1855-1857)AGC>AGT	p.S619S	SLC3A2_uc001nwc.2_Silent_p.S589S|SLC3A2_uc001nwd.2_Silent_p.S588S|SLC3A2_uc001nwe.2_Silent_p.S557S|SLC3A2_uc001nwf.2_Silent_p.S526S|SLC3A2_uc001nwg.2_Silent_p.S487S	NM_001012661	NP_001012679	P08195	4F2_HUMAN	solute carrier family 3, member 2 isoform a	588	Extracellular (Potential).				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding				0														0.439024	47.939912	48.073239	18	23	KEEP	---	---	---	---	capture		Silent	SNP	62656036	62656036	15124	11	C	T	T	T	337	26	SLC3A2	2	2
SLC22A6	9356	broad.mit.edu	37	11	62747341	62747341	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62747341T>G	uc001nwk.2	-	c.1117A>C	c.(1117-1119)ATC>CTC	p.I373L	SLC22A6_uc001nwl.2_Missense_Mutation_p.I373L|SLC22A6_uc001nwj.2_Missense_Mutation_p.I373L|SLC22A6_uc001nwm.2_Missense_Mutation_p.I373L	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	373	Helical; (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0														0.181034	43.956894	55.156744	21	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62747341	62747341	14955	11	T	G	G	G	650	50	SLC22A6	4	4
MARK2	2011	broad.mit.edu	37	11	63670188	63670188	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:63670188A>T	uc001nxw.2	+	c.1350A>T	c.(1348-1350)ACA>ACT	p.T450T	MARK2_uc001nxx.2_Silent_p.T450T|MARK2_uc001nxy.2_Silent_p.T449T|MARK2_uc001nxv.3_Silent_p.T449T|MARK2_uc001nxz.3_Silent_p.T416T|MARK2_uc009yoy.2_Silent_p.T416T	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	450					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|protein phosphorylation|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2										218				0.336735	96.646839	98.956549	33	65	KEEP	---	---	---	---	capture		Silent	SNP	63670188	63670188	9696	11	A	T	T	T	80	7	MARK2	3	3
SMPD1	6609	broad.mit.edu	37	11	6412057	6412057	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6412057G>T	uc001mcw.2	+	c.229G>T	c.(229-231)GTG>TTG	p.V77L	SMPD1_uc001mcv.1_Non-coding_Transcript|SMPD1_uc009yex.2_Non-coding_Transcript|SMPD1_uc001mcx.2_Missense_Mutation_p.V77L|SMPD1_uc009yew.2_Missense_Mutation_p.V77L	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	75					cell death|nervous system development|signal transduction|sphingomyelin catabolic process	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)									0.550265	330.009355	330.424474	104	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6412057	6412057	15304	11	G	T	T	T	468	36	SMPD1	2	2
APBB1	322	broad.mit.edu	37	11	6432455	6432455	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6432455C>G	uc001mdb.1	-	c.123G>C	c.(121-123)CAG>CAC	p.Q41H	APBB1_uc001mdc.1_Missense_Mutation_p.Q41H|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	41					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription activator activity|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GBM(147;1810 2556 5672 39622)								0.360215	182.232048	185.447893	67	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6432455	6432455	769	11	C	G	G	G	311	24	APBB1	3	3
SPDYC	387778	broad.mit.edu	37	11	64938909	64938909	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64938909G>T	uc010rnz.1	+	c.138G>T	c.(136-138)GGG>GGT	p.G46G		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	speedy C	46					cell cycle	nucleus	protein kinase binding				0														0.326531	43.379195	44.689265	16	33	KEEP	---	---	---	---	capture		Silent	SNP	64938909	64938909	15538	11	G	T	T	T	548	43	SPDYC	2	2
POLA2	23649	broad.mit.edu	37	11	65048481	65048481	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65048481G>T	uc001odj.2	+	c.763G>T	c.(763-765)GGC>TGC	p.G255C	POLA2_uc010rod.1_Missense_Mutation_p.G47C|POLA2_uc001odk.2_5'UTR	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	255					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)									0.223529	43.578983	49.55351	19	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65048481	65048481	12616	11	G	T	T	T	559	43	POLA2	2	2
POLA2	23649	broad.mit.edu	37	11	65064706	65064706	+	Missense_Mutation	SNP	G	T	T	rs7123885	byFrequency;by1000genomes	TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65064706G>T	uc001odj.2	+	c.1763G>T	c.(1762-1764)AGC>ATC	p.S588I	POLA2_uc001odk.2_Missense_Mutation_p.S285I	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	588					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)									0.327586	48.775063	50.26954	19	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65064706	65064706	12616	11	G	T	T	T	442	34	POLA2	2	2
EFEMP2	30008	broad.mit.edu	37	11	65638652	65638652	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65638652G>C	uc001ofy.3	-	c.343C>G	c.(343-345)CCC>GCC	p.P115A	EFEMP2_uc001ofz.2_Non-coding_Transcript|EFEMP2_uc001oga.2_Missense_Mutation_p.P115A	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	115					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)										0.266667	31.879313	34.092591	12	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65638652	65638652	5130	11	G	C	C	C	546	42	EFEMP2	3	3
FOSL1	8061	broad.mit.edu	37	11	65664377	65664377	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65664377G>T	uc001ogg.1	-	c.200C>A	c.(199-201)CCT>CAT	p.P67H	FOSL1_uc010ros.1_Intron	NM_005438	NP_005429	P15407	FOSL1_HUMAN	FOS-like antigen 1	67					cellular defense response|chemotaxis|positive regulation of cell proliferation|response to virus|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				READ - Rectum adenocarcinoma(159;0.168)										0.372549	49.898353	50.630736	19	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65664377	65664377	6229	11	G	T	T	T	455	35	FOSL1	2	2
CATSPER1	117144	broad.mit.edu	37	11	65793318	65793318	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65793318G>T	uc001ogt.2	-	c.533C>A	c.(532-534)TCC>TAC	p.S178Y		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	178	His-rich.|Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2														0.38	48.90629	49.53996	19	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65793318	65793318	2806	11	G	T	T	T	533	41	CATSPER1	2	2
SF3B2	10992	broad.mit.edu	37	11	65819874	65819874	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65819874G>T	uc001ogy.1	+	c.19G>T	c.(19-21)GAG>TAG	p.E7*	SF3B2_uc001ogx.1_Nonsense_Mutation_p.E7*	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	7					interspecies interaction between organisms|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3														0.333333	14.671896	15.039958	5	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	65819874	65819874	14640	11	G	T	T	T	481	37	SF3B2	5	1
DNHD1	144132	broad.mit.edu	37	11	6592889	6592889	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6592889G>T	uc001mdw.3	+	c.13935G>T	c.(13933-13935)ACG>ACT	p.T4645T	DNHD1_uc001mea.3_Silent_p.T914T|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Silent_p.T913T|DNHD1_uc010rao.1_Silent_p.T903T|DNHD1_uc009yfg.2_Silent_p.T270T	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4645					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)										0.705882	79.610886	80.901206	24	10	KEEP	---	---	---	---	capture		Silent	SNP	6592889	6592889	4851	11	G	T	T	T	496	39	DNHD1	1	1
PACS1	55690	broad.mit.edu	37	11	65998365	65998365	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65998365A>G	uc001oha.1	+	c.1580A>G	c.(1579-1581)AAC>AGC	p.N527S	PACS1_uc010rou.1_Missense_Mutation_p.N63S	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	527					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding			ovary(6)	6														0.283505	155.826512	164.006184	55	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65998365	65998365	11788	11	A	G	G	G	26	2	PACS1	4	4
NPAS4	266743	broad.mit.edu	37	11	66188688	66188689	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66188688_66188689GG>TT	uc001ohx.1	+	c.38_39GG>TT	c.(37-39)CGG>CTT	p.R13L	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	13	Potential.|Basic motif.				transcription, DNA-dependent		DNA binding|signal transducer activity				0														0.575	76.232322	76.429289	23	17	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	66188688	66188689	10969	11	GG	TT	TT	TT	507	39	NPAS4	1	1
NPAS4	266743	broad.mit.edu	37	11	66190613	66190613	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66190613T>G	uc001ohx.1	+	c.718T>G	c.(718-720)TTT>GTT	p.F240V	NPAS4_uc010rpc.1_Intron	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	240	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity				0														0.238095	11.763847	13.08024	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66190613	66190613	10969	11	T	G	G	G	728	56	NPAS4	4	4
DPP3	10072	broad.mit.edu	37	11	66262853	66262853	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66262853G>T	uc001oig.1	+	c.1470G>T	c.(1468-1470)CGG>CGT	p.R490R	DPP3_uc001oif.1_Silent_p.R490R|DPP3_uc010rpe.1_Silent_p.R479R|DPP3_uc001oih.1_5'Flank	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	490					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)	1														0.310345	21.648742	22.587453	9	20	KEEP	---	---	---	---	capture		Silent	SNP	66262853	66262853	4912	11	G	T	T	T	522	41	DPP3	2	2
ACTN3	89	broad.mit.edu	37	11	66326838	66326838	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66326838G>T	uc001oio.1	+	c.1408G>T	c.(1408-1410)GCG>TCG	p.A470S	ACTN3_uc010rpi.1_Non-coding_Transcript	NM_001104	NP_001095	Q08043	ACTN3_HUMAN	actinin, alpha 3	470	Spectrin 2.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle				0														0.428571	17.648711	17.710747	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66326838	66326838	207	11	G	T	T	T	494	38	ACTN3	1	1
CCDC87	55231	broad.mit.edu	37	11	66358815	66358815	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66358815A>G	uc001oiq.3	-	c.1672T>C	c.(1672-1674)TCC>CCC	p.S558P	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	558										ovary(1)	1														0.623377	165.906167	166.93331	48	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66358815	66358815	2987	11	A	G	G	G	130	10	CCDC87	4	4
CCDC87	55231	broad.mit.edu	37	11	66359146	66359146	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66359146C>A	uc001oiq.3	-	c.1341G>T	c.(1339-1341)CGG>CGT	p.R447R	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	447										ovary(1)	1														0.25	28.220487	30.91956	12	36	KEEP	---	---	---	---	capture		Silent	SNP	66359146	66359146	2987	11	C	A	A	A	275	22	CCDC87	2	2
SPTBN2	6712	broad.mit.edu	37	11	66468181	66468181	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:66468181T>G	uc001ojd.2	-	c.3389A>C	c.(3388-3390)GAG>GCG	p.E1130A		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1130	Spectrin 8.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4														0.631579	38.403759	38.692867	12	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66468181	66468181	15634	11	T	G	G	G	702	54	SPTBN2	4	4
DCHS1	8642	broad.mit.edu	37	11	6653761	6653761	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6653761A>T	uc001mem.1	-	c.2982T>A	c.(2980-2982)CGT>CGA	p.R994R		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	994	Cadherin 9.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.894737	53.207452	56.117942	17	2	KEEP	---	---	---	---	capture		Silent	SNP	6653761	6653761	4458	11	A	T	T	T	67	6	DCHS1	3	3
RPS6KB2	6199	broad.mit.edu	37	11	67200238	67200239	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67200238_67200239GG>TT	uc001old.2	+	c.546_547GG>TT	c.(544-549)CTGGGC>CTTTGC	p.G183C	RPS6KB2_uc001olf.2_5'UTR|RPS6KB2_uc001olg.2_Missense_Mutation_p.G183C|RPS6KB2_uc009yrq.2_5'UTR|RPS6KB2_uc001ole.2_Non-coding_Transcript|RPS6KB2_uc001olh.2_Non-coding_Transcript|RPS6KB2_uc009yrr.2_Intron	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	183	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|salivary_gland(1)	5			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)							179				0.39726	85.784962	86.448522	29	44	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	67200238	67200239	14137	11	GG	TT	TT	TT	600	47	RPS6KB2	2	2
TBX10	347853	broad.mit.edu	37	11	67399882	67399882	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67399882G>T	uc001omp.2	-	c.775C>A	c.(775-777)CCT>ACT	p.P259T	NUDT8_uc001omn.2_5'Flank|NUDT8_uc001omo.1_5'Flank	NM_005995	NP_005986	O75333	TBX10_HUMAN	T-box 10	259					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity				0														0.282051	28.955812	30.592194	11	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67399882	67399882	16177	11	G	T	T	T	546	42	TBX10	2	2
ACY3	91703	broad.mit.edu	37	11	67410235	67410235	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:67410235G>A	uc001omq.2	-	c.920C>T	c.(919-921)GCC>GTC	p.A307V		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	aspartoacylase 3	307					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding				0					L-Aspartic Acid(DB00128)	GBM(56;346 1011 27014 29495 46841)								0.37037	27.642083	28.041079	10	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67410235	67410235	228	11	G	A	A	A	546	42	ACY3	2	2
OR10A5	144124	broad.mit.edu	37	11	6867317	6867317	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6867317T>G	uc001met.1	+	c.404T>G	c.(403-405)GTC>GGC	p.V135G		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		Pancreas(44;21 1072 25662 28041 45559)								0.290503	146.558681	153.649211	52	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6867317	6867317	11299	11	T	G	G	G	754	58	OR10A5	4	4
IGHMBP2	3508	broad.mit.edu	37	11	68703791	68703791	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:68703791C>A	uc001ook.1	+	c.1843C>A	c.(1843-1845)CGT>AGT	p.R615S	IGHMBP2_uc001ool.1_Missense_Mutation_p.R239S|IGHMBP2_uc001oom.1_Missense_Mutation_p.R193S	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	615					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)											0.284211	142.068845	150.017131	54	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68703791	68703791	7892	11	C	A	A	A	299	23	IGHMBP2	1	1
OR10A2	341276	broad.mit.edu	37	11	6891839	6891839	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6891839A>C	uc001meu.1	+	c.854A>C	c.(853-855)AAG>ACG	p.K285T		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	285	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)										0.203125	77.109681	92.833854	39	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6891839	6891839	11296	11	A	C	C	C	39	3	OR10A2	4	4
FGF19	9965	broad.mit.edu	37	11	69514322	69514322	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:69514322C>A	uc001opf.2	-	c.359G>T	c.(358-360)TGT>TTT	p.C120F		NM_005117	NP_005108	O95750	FGF19_HUMAN	fibroblast growth factor 19 precursor	120					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of bile acid biosynthetic process|nervous system development|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import|positive regulation of JNK cascade	extracellular region	fibroblast growth factor receptor binding|growth factor activity			skin(1)	1	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;3.05e-56)|all cancers(3;2.69e-50)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)							15				0.366667	31.915848	32.385281	11	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69514322	69514322	6084	11	C	A	A	A	221	17	FGF19	2	2
ZNF214	7761	broad.mit.edu	37	11	7024026	7024026	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7024026C>A	uc001mfa.2	-	c.41G>T	c.(40-42)TGG>TTG	p.W14L	ZNF214_uc010ray.1_Missense_Mutation_p.W14L|ZNF214_uc009yfh.1_Missense_Mutation_p.W14L	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	zinc finger protein 214	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		Ovarian(22;251 657 736 21522 46864)								0.582734	261.391996	262.221662	81	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7024026	7024026	18361	11	C	A	A	A	273	21	ZNF214	2	2
SHANK2	22941	broad.mit.edu	37	11	70332419	70332419	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:70332419C>A	uc001oqc.2	-	c.3979G>T	c.(3979-3981)GCC>TCC	p.A1327S	SHANK2_uc010rqn.1_Missense_Mutation_p.A739S|SHANK2_uc001opz.2_Missense_Mutation_p.A732S|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	948	SH3-binding (Potential).				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)											0.380952	46.393317	46.914039	16	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70332419	70332419	14757	11	C	A	A	A	351	27	SHANK2	1	1
NLRP14	338323	broad.mit.edu	37	11	7063863	7063863	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7063863G>T	uc001mfb.1	+	c.606G>T	c.(604-606)GAG>GAT	p.E202D		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	202	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)										0.829932	405.524202	420.655236	122	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7063863	7063863	10879	11	G	T	T	T	451	35	NLRP14	2	2
KRTAP5-10	387273	broad.mit.edu	37	11	71276782	71276782	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:71276782A>C	uc001oqt.1	+	c.149A>C	c.(148-150)AAG>ACG	p.K50T		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	50	1.|7 X 4 AA repeats of C-C-X-P.					keratin filament					0														0.242236	87.137806	96.902954	39	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71276782	71276782	8881	11	A	C	C	C	39	3	KRTAP5-10	4	4
INPPL1	3636	broad.mit.edu	37	11	71948775	71948775	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:71948775G>T	uc001osf.2	+	c.3487G>T	c.(3487-3489)GGC>TGC	p.G1163C	INPPL1_uc001osg.2_Missense_Mutation_p.G921C	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1163					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)	3														0.444444	36.796063	36.868746	12	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71948775	71948775	8062	11	G	T	T	T	611	47	INPPL1	2	2
ARAP1	116985	broad.mit.edu	37	11	72398509	72398509	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:72398509C>A	uc001osu.2	-	c.4160G>T	c.(4159-4161)TGG>TTG	p.W1387L	ARAP1_uc001osv.2_Missense_Mutation_p.W1376L|ARAP1_uc001osr.2_Missense_Mutation_p.W1147L|ARAP1_uc001oss.2_Missense_Mutation_p.W1142L|ARAP1_uc009yth.2_Missense_Mutation_p.W1070L|ARAP1_uc010rre.1_Missense_Mutation_p.W1131L	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1387	PH 4.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding				0						Ovarian(102;1198 1520 13195 17913 37529)								0.229885	91.79802	103.450271	40	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72398509	72398509	849	11	C	A	A	A	273	21	ARAP1	2	2
ARAP1	116985	broad.mit.edu	37	11	72418409	72418409	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:72418409C>G	uc001osu.2	-	c.1534G>C	c.(1534-1536)GAC>CAC	p.D512H	ARAP1_uc001osv.2_Missense_Mutation_p.D512H|ARAP1_uc001osr.2_Missense_Mutation_p.D272H|ARAP1_uc001oss.2_Missense_Mutation_p.D267H|ARAP1_uc009yth.2_Missense_Mutation_p.D267H|ARAP1_uc010rre.1_Missense_Mutation_p.D267H	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	512	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding				0						Ovarian(102;1198 1520 13195 17913 37529)								0.138889	6.034806	10.610599	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72418409	72418409	849	11	C	G	G	G	377	29	ARAP1	3	3
PLEKHB1	58473	broad.mit.edu	37	11	73372606	73372606	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:73372606G>T	uc001oua.2	+	c.691G>T	c.(691-693)GCG>TCG	p.A231S	PLEKHB1_uc001oub.2_Missense_Mutation_p.A196S|PLEKHB1_uc001ouc.2_Missense_Mutation_p.A212S|PLEKHB1_uc001oud.2_Missense_Mutation_p.A177S|PLEKHB1_uc009ytq.2_Missense_Mutation_p.A177S	NM_021200	NP_067023	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B	231					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			ovary(1)|lung(1)	2												OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.377049	119.691826	121.319717	46	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73372606	73372606	12490	11	G	T	T	T	546	42	PLEKHB1	2	2
NEU3	10825	broad.mit.edu	37	11	74717042	74717042	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:74717042G>T	uc001ovw.2	+	c.891G>T	c.(889-891)CAG>CAT	p.Q297H	NEU3_uc001ovv.2_Missense_Mutation_p.Q287H|NEU3_uc010rrl.1_Missense_Mutation_p.Q188H	NM_006656	NP_006647	A8K327	A8K327_HUMAN	sialidase 3	297										ovary(2)	2														0.321168	115.859735	119.747415	44	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74717042	74717042	10742	11	G	T	T	T	425	33	NEU3	2	2
WNT11	7481	broad.mit.edu	37	11	75907653	75907653	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:75907653G>C	uc001oxe.2	-	c.193C>G	c.(193-195)CTC>GTC	p.L65V	WNT11_uc001oxf.1_Missense_Mutation_p.L65V	NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	65					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|promoter binding|protein kinase activator activity|Ras GTPase activator activity|transcription activator activity|transcription repressor activity			skin(1)	1														0.318841	62.707422	64.731436	22	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75907653	75907653	17958	11	G	C	C	C	442	34	WNT11	3	3
PAK1	5058	broad.mit.edu	37	11	77070048	77070048	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:77070048C>A	uc001oyg.3	-	c.492G>T	c.(490-492)GTG>GTT	p.V164V	PAK1_uc010rso.1_Silent_p.V66V|PAK1_uc001oyh.3_Silent_p.V164V|PAK1_uc001oyi.1_Silent_p.V164V|PAK1_uc010rsn.1_5'UTR	NM_001128620	NP_001122092	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 1	164	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2	all_cancers(14;1.75e-18)									735				0.086957	2.555852	22.424553	10	105	KEEP	---	---	---	---	capture		Silent	SNP	77070048	77070048	11815	11	C	A	A	A	210	17	PAK1	2	2
OVCH2	341277	broad.mit.edu	37	11	7721932	7721932	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7721932T>G	uc010rbf.1	-	c.812A>C	c.(811-813)AAC>ACC	p.N271T		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)										0.183908	33.049373	41.206293	16	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7721932	7721932	11737	11	T	G	G	G	780	60	OVCH2	4	4
RSF1	51773	broad.mit.edu	37	11	77402204	77402204	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:77402204C>A	uc001oyn.2	-	c.2900G>T	c.(2899-2901)AGA>ATA	p.R967I	RSF1_uc001oym.2_Missense_Mutation_p.R715I	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	967	Potential.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|transcription activator activity|transcription repressor activity|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)											0.55	140.905088	141.078897	44	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77402204	77402204	14179	11	C	A	A	A	312	24	RSF1	2	2
INTS4	92105	broad.mit.edu	37	11	77635818	77635818	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:77635818T>C	uc001oys.2	-	c.1492A>G	c.(1492-1494)ACT>GCT	p.T498A	INTS4_uc001oyt.2_Non-coding_Transcript|INTS4_uc001oyu.1_Missense_Mutation_p.T498A	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	498					snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)											0.321429	86.703382	89.078169	27	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77635818	77635818	8081	11	T	C	C	C	741	57	INTS4	4	4
ODZ4	26011	broad.mit.edu	37	11	78369524	78369524	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:78369524G>T	uc001ozl.3	-	c.7889C>A	c.(7888-7890)GCC>GAC	p.A2630D	ODZ4_uc001ozk.3_Missense_Mutation_p.A855D|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2630	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4														0.318182	56.094795	58.011816	21	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78369524	78369524	11242	11	G	T	T	T	546	42	ODZ4	2	2
RAB30	27314	broad.mit.edu	37	11	82693360	82693360	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:82693360G>T	uc001ozu.2	-	c.459C>A	c.(457-459)GCC>GCA	p.A153A	RAB30_uc009yve.2_Silent_p.A151A|RAB30_uc010rst.1_Silent_p.A151A|RAB30_uc001ozv.2_Missense_Mutation_p.P150Q	NM_014488	NP_055303	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	153					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity				0														0.228814	64.66184	72.622921	27	91	KEEP	---	---	---	---	capture		Silent	SNP	82693360	82693360	13378	11	G	T	T	T	600	47	RAB30	2	2
RAB30	27314	broad.mit.edu	37	11	82708265	82708266	+	Splice_Site_DNP	DNP	CC	AA	AA			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:82708265_82708266CC>AA	uc001ozu.2	-	c.93_splice	c.e3+1	p.Q31_splice	RAB30_uc009yve.2_Splice_Site_DNP_p.Q29_splice|RAB30_uc010rst.1_Splice_Site_DNP_p.Q29_splice|RAB30_uc001ozv.2_Splice_Site_DNP_p.Q29_splice|RAB30_uc009yvg.1_Splice_Site_DNP_p.Q29_splice	NM_014488	NP_055303			RAB30, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity				0														0.338028	144.55825	147.851781	48	94	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	82708265	82708266	13378	11	CC	AA	AA	AA	234	18	RAB30	5	2
PRSS23	11098	broad.mit.edu	37	11	86519020	86519020	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:86519020G>T	uc001pcb.2	+	c.335G>T	c.(334-336)GGG>GTG	p.G112V	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.G80V	NM_007173	NP_009104	O95084	PRS23_HUMAN	protease, serine, 23 precursor	112					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.410256	87.987949	88.535232	32	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86519020	86519020	13070	11	G	T	T	T	559	43	PRSS23	2	2
TMEM135	65084	broad.mit.edu	37	11	86868446	86868446	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:86868446G>T	uc001pch.2	+	c.460G>T	c.(460-462)GAA>TAA	p.E154*	TMEM135_uc010rtt.1_Nonsense_Mutation_p.E15*|TMEM135_uc001pci.2_Intron|TMEM135_uc001pcg.1_Intron	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	transmembrane protein 135	154	Helical; (Potential).					integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.275591	173.440552	184.95944	70	184	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	86868446	86868446	16583	11	G	T	T	T	429	33	TMEM135	5	2
FOLH1B	219595	broad.mit.edu	37	11	89403576	89403576	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:89403576C>A	uc001pda.2	+	c.114C>A	c.(112-114)ATC>ATA	p.I38I		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	38					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|central_nervous_system(1)	4														0.306818	70.893091	73.820836	27	61	KEEP	---	---	---	---	capture		Silent	SNP	89403576	89403576	6222	11	C	A	A	A	382	30	FOLH1B	2	2
CHID1	66005	broad.mit.edu	37	11	903072	903072	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:903072C>A	uc010qwv.1	-	c.334G>T	c.(334-336)GTC>TTC	p.V112F	CHID1_uc010qwu.1_Missense_Mutation_p.V81F|CHID1_uc001lsl.2_Missense_Mutation_p.V51F|CHID1_uc001lsn.2_Missense_Mutation_p.V76L|CHID1_uc001lsm.2_Missense_Mutation_p.V51L|CHID1_uc001lso.2_Missense_Mutation_p.V51L|CHID1_uc001lsp.2_Missense_Mutation_p.V51L|CHID1_uc010qww.1_Missense_Mutation_p.V51L	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1 isoform a	51					chitin catabolic process	extracellular region|lysosome	cation binding|chitinase activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		Pancreas(117;992 2327 5172 41921)								0.3125	13.370498	13.870563	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	903072	903072	3479	11	C	A	A	A	234	18	CHID1	2	2
FAT3	120114	broad.mit.edu	37	11	92085369	92085369	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92085369C>A	uc001pdj.3	+	c.91C>A	c.(91-93)CAG>AAG	p.Q31K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	31					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.673469	102.881689	104.187545	33	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92085369	92085369	5927	11	C	A	A	A	273	21	FAT3	2	2
FAT3	120114	broad.mit.edu	37	11	92088162	92088162	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92088162G>C	uc001pdj.3	+	c.2884G>C	c.(2884-2886)GAT>CAT	p.D962H		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	962	Cadherin 9.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.335664	151.949025	155.369264	48	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92088162	92088162	5927	11	G	C	C	C	585	45	FAT3	3	3
FAT3	120114	broad.mit.edu	37	11	92616192	92616192	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92616192G>T	uc001pdj.3	+	c.12570G>T	c.(12568-12570)ACG>ACT	p.T4190T	FAT3_uc001pdi.3_Silent_p.T630T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4190	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)			0.25	29.679452	32.405682	12	36	KEEP	---	---	---	---	capture		Silent	SNP	92616192	92616192	5927	11	G	T	T	T	483	38	FAT3	1	1
FAT3	120114	broad.mit.edu	37	11	92616245	92616245	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92616245C>A	uc001pdj.3	+	c.12623C>A	c.(12622-12624)CCG>CAG	p.P4208Q	FAT3_uc001pdi.3_Missense_Mutation_p.P648Q	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4208	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)			0.323529	63.837445	65.71147	22	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92616245	92616245	5927	11	C	A	A	A	299	23	FAT3	1	1
CCDC67	159989	broad.mit.edu	37	11	93088627	93088627	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:93088627G>A	uc001pdq.2	+	c.120G>A	c.(118-120)ATG>ATA	p.M40I	CCDC67_uc001pdo.1_Missense_Mutation_p.M40I|CCDC67_uc001pdp.2_Missense_Mutation_p.M40I	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	40	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)												0.584337	297.789362	298.818531	97	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93088627	93088627	2962	11	G	A	A	A	598	46	CCDC67	2	2
HEPHL1	341208	broad.mit.edu	37	11	93803634	93803634	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:93803634T>A	uc001pep.2	+	c.1158T>A	c.(1156-1158)GCT>GCA	p.A386A		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	386	Plastocyanin-like 3.|Extracellular (Potential).				copper ion transport|oxidation-reduction process	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)												0.306122	41.509429	43.150474	15	34	KEEP	---	---	---	---	capture		Silent	SNP	93803634	93803634	7338	11	T	A	A	A	704	55	HEPHL1	3	3
HEPHL1	341208	broad.mit.edu	37	11	93806538	93806538	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:93806538G>A	uc001pep.2	+	c.1437G>A	c.(1435-1437)AAG>AAA	p.K479K		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	479	Plastocyanin-like 3.|Extracellular (Potential).				copper ion transport|oxidation-reduction process	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)												0.314815	101.111966	104.406534	34	74	KEEP	---	---	---	---	capture		Silent	SNP	93806538	93806538	7338	11	G	A	A	A	451	35	HEPHL1	2	2
PANX1	24145	broad.mit.edu	37	11	93912879	93912879	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:93912879G>C	uc001per.2	+	c.657G>C	c.(655-657)CTG>CTC	p.L219L	PANX1_uc001peq.2_Silent_p.L219L	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	219	Helical; (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												0.345679	87.977704	89.679983	28	53	KEEP	---	---	---	---	capture		Silent	SNP	93912879	93912879	11837	11	G	C	C	C	574	45	PANX1	3	3
IPO7	10527	broad.mit.edu	37	11	9435846	9435846	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:9435846A>T	uc001mho.2	+	c.524A>T	c.(523-525)CAG>CTG	p.Q175L		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	175					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)										0.254237	38.696373	41.930772	15	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9435846	9435846	8098	11	A	T	T	T	91	7	IPO7	3	3
ENDOD1	23052	broad.mit.edu	37	11	94862456	94862456	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:94862456G>T	uc001pfh.2	+	c.1216G>T	c.(1216-1218)GCC>TCC	p.A406S		NM_015036	NP_055851	O94919	ENDD1_HUMAN	endonuclease domain containing 1 precursor	406						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding				0		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)												0.352564	152.414876	155.38893	55	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94862456	94862456	5307	11	G	T	T	T	546	42	ENDOD1	2	2
MAML2	84441	broad.mit.edu	37	11	95825224	95825224	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:95825224T>C	uc001pfw.1	-	c.1971A>G	c.(1969-1971)CAA>CAG	p.Q657Q		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	657					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			lung(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)							p.Q657Q(HEC1A-Tumor)	501				0.5	14.400207	14.400207	4	4	KEEP	---	---	---	---	capture		Silent	SNP	95825224	95825224	9589	11	T	C	C	C	777	60	MAML2	4	4
ANKS1B	56899	broad.mit.edu	37	12	100200223	100200223	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100200223C>A	uc001tge.1	-	c.628G>T	c.(628-630)GTG>TTG	p.V210L	ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.V210L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	210	ANK 6.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)										0.514851	172.105008	172.124532	52	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100200223	100200223	697	12	C	A	A	A	247	19	ANKS1B	1	1
SLC17A8	246213	broad.mit.edu	37	12	100811813	100811813	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:100811813A>C	uc010svi.1	+	c.1304A>C	c.(1303-1305)AAT>ACT	p.N435T	SLC17A8_uc009ztx.2_Missense_Mutation_p.N385T	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	435	Cytoplasmic (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3														0.114286	20.499638	41.033095	16	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100811813	100811813	14919	12	A	C	C	C	52	4	SLC17A8	4	4
C12orf42	374470	broad.mit.edu	37	12	103699929	103699929	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:103699929C>A	uc001tjt.2	-	c.454G>T	c.(454-456)GAG>TAG	p.E152*	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Nonsense_Mutation_p.E152*|C12orf42_uc001tju.2_Nonsense_Mutation_p.E57*	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	152										ovary(1)|central_nervous_system(1)	2														0.921348	264.447967	280.158575	82	7	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	103699929	103699929	1732	12	C	A	A	A	390	30	C12orf42	5	2
CHST11	50515	broad.mit.edu	37	12	105151495	105151495	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:105151495G>T	uc001tkx.1	+	c.973G>T	c.(973-975)GAG>TAG	p.E325*	CHST11_uc001tky.2_Nonsense_Mutation_p.E320*	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	325	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0														0.506024	126.343686	126.346222	42	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	105151495	105151495	3533	12	G	T	T	T	429	33	CHST11	5	2
NUAK1	9891	broad.mit.edu	37	12	106500286	106500286	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:106500286A>T	uc001tlj.1	-	c.258T>A	c.(256-258)ATT>ATA	p.I86I		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	86	Protein kinase.			I -> V (in Ref. 3; BAB55026).	protein phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2										125				0.871429	196.016661	205.427204	61	9	KEEP	---	---	---	---	capture		Silent	SNP	106500286	106500286	11117	12	A	T	T	T	112	9	NUAK1	3	3
BTBD11	121551	broad.mit.edu	37	12	107713182	107713182	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:107713182C>A	uc001tmk.1	+	c.465C>A	c.(463-465)GCC>GCA	p.A155A	BTBD11_uc009zut.1_Silent_p.A155A|BTBD11_uc001tmj.2_Silent_p.A155A	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	155						integral to membrane	DNA binding			ovary(1)	1														0.4	11.297133	11.384816	4	6	KEEP	---	---	---	---	capture		Silent	SNP	107713182	107713182	1571	12	C	A	A	A	262	21	BTBD11	2	2
BTBD11	121551	broad.mit.edu	37	12	108011113	108011113	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108011113G>A	uc001tmk.1	+	c.2131G>A	c.(2131-2133)GGT>AGT	p.G711S	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.G711S|BTBD11_uc001tml.1_Missense_Mutation_p.G248S	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	711	ANK 3.					integral to membrane	DNA binding			ovary(1)	1														0.913978	288.23937	304.387774	85	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108011113	108011113	1571	12	G	A	A	A	611	47	BTBD11	2	2
CMKLR1	1240	broad.mit.edu	37	12	108686013	108686013	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:108686013T>C	uc009zuw.2	-	c.727A>G	c.(727-729)ATC>GTC	p.I243V	CMKLR1_uc001tmw.2_Missense_Mutation_p.I243V|CMKLR1_uc001tmv.2_Missense_Mutation_p.I241V|CMKLR1_uc009zuv.2_Missense_Mutation_p.I243V	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	243	Helical; Name=5; (Potential).				chemotaxis|immune response|positive regulation of macrophage chemotaxis|skeletal system development	integral to plasma membrane	chemokine receptor activity			ovary(1)	1														0.910714	162.400548	171.391595	51	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108686013	108686013	3717	12	T	C	C	C	663	51	CMKLR1	4	4
MVK	4598	broad.mit.edu	37	12	110034265	110034265	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:110034265G>T	uc001toy.3	+	c.1074G>T	c.(1072-1074)CAG>CAT	p.Q358H	MVK_uc009zvk.2_Missense_Mutation_p.Q358H|MVK_uc010sxr.1_Missense_Mutation_p.Q306H|MVK_uc001toz.3_Missense_Mutation_p.Q164H|MVK_uc001tpc.3_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	358					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0														0.851852	74.839789	78.047264	23	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110034265	110034265	10389	12	G	T	T	T	451	35	MVK	2	2
IFT81	28981	broad.mit.edu	37	12	110655869	110655869	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:110655869A>C	uc001tqi.2	+	c.1869A>C	c.(1867-1869)AAA>AAC	p.K623N	IFT81_uc001tqh.2_Missense_Mutation_p.K623N|IFT81_uc001tqj.2_Non-coding_Transcript	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	623					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1														0.533333	25.900629	25.915096	8	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110655869	110655869	7866	12	A	C	C	C	37	3	IFT81	4	4
HVCN1	84329	broad.mit.edu	37	12	111099189	111099189	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111099189G>A	uc001trs.1	-	c.86C>T	c.(85-87)ACG>ATG	p.T29M	HVCN1_uc001trq.1_Missense_Mutation_p.T29M|HVCN1_uc001trt.1_Missense_Mutation_p.T29M|HVCN1_uc010syd.1_Missense_Mutation_p.T9M	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	29	Cytoplasmic (Potential).				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity				0														0.476923	91.80986	91.840389	31	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111099189	111099189	7762	12	G	A	A	A	520	40	HVCN1	1	1
ERC1	23085	broad.mit.edu	37	12	1137381	1137381	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:1137381G>T	uc001qjb.2	+	c.312G>T	c.(310-312)ATG>ATT	p.M104I	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.M104I|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.M104I	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	104					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(1)	3	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)							378				0.217241	139.463756	160.851063	63	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1137381	1137381	5403	12	G	T	T	T	585	45	ERC1	2	2
TBX5	6910	broad.mit.edu	37	12	114793495	114793495	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:114793495C>A	uc001tvo.2	-	c.1399G>T	c.(1399-1401)GTC>TTC	p.V467F	TBX5_uc001tvp.2_Missense_Mutation_p.V467F|TBX5_uc001tvq.2_Missense_Mutation_p.V417F	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	467					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)	7	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		NSCLC(152;1358 1980 4050 23898 40356)								0.452381	56.62192	56.704522	19	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114793495	114793495	16187	12	C	A	A	A	234	18	TBX5	2	2
TBX5	6910	broad.mit.edu	37	12	114793508	114793508	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:114793508G>T	uc001tvo.2	-	c.1386C>A	c.(1384-1386)GCC>GCA	p.A462A	TBX5_uc001tvp.2_Silent_p.A462A|TBX5_uc001tvq.2_Silent_p.A412A	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	462					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)	7	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		NSCLC(152;1358 1980 4050 23898 40356)								0.424242	38.949329	39.113021	14	19	KEEP	---	---	---	---	capture		Silent	SNP	114793508	114793508	16187	12	G	T	T	T	548	43	TBX5	2	2
CIT	11113	broad.mit.edu	37	12	120214606	120214606	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120214606T>A	uc001txj.1	-	c.1706A>T	c.(1705-1707)AAT>ATT	p.N569I	CIT_uc001txh.1_Missense_Mutation_p.N103I|CIT_uc001txi.1_Missense_Mutation_p.N569I	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	569	Potential.				intracellular signal transduction|protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)						1263				0.375	580.38233	587.519662	195	325	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120214606	120214606	3573	12	T	A	A	A	676	52	CIT	3	3
CCDC64	92558	broad.mit.edu	37	12	120502555	120502555	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120502555C>T	uc001txl.1	+	c.781C>T	c.(781-783)CGG>TGG	p.R261W	CCDC64_uc001txk.2_Missense_Mutation_p.R261W|CCDC64_uc009zwv.1_Non-coding_Transcript|CCDC64_uc010sze.1_Missense_Mutation_p.R5W	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	261	Potential.				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.903226	470.998401	496.259293	140	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120502555	120502555	2958	12	C	T	T	T	399	31	CCDC64	1	1
SIRT4	23409	broad.mit.edu	37	12	120741790	120741790	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120741790C>T	uc001tyc.2	+	c.426C>T	c.(424-426)ACC>ACT	p.T142T		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	142	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.219512	23.055829	26.024597	9	32	KEEP	---	---	---	---	capture		Silent	SNP	120741790	120741790	14835	12	C	T	T	T	275	22	SIRT4	2	2
COQ5	84274	broad.mit.edu	37	12	120960118	120960118	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:120960118T>C	uc001tyn.2	-	c.251A>G	c.(250-252)GAT>GGT	p.D84G	COQ5_uc001tyo.2_Missense_Mutation_p.D3G|COQ5_uc010szj.1_Missense_Mutation_p.D84G	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase	84					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)													0.422222	62.019172	62.256328	19	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120960118	120960118	3886	12	T	C	C	C	650	50	COQ5	4	4
RSRC2	65117	broad.mit.edu	37	12	122992897	122992897	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:122992897G>A	uc001ucu.2	-	c.906C>T	c.(904-906)GCC>GCT	p.A302A	RSRC2_uc001uco.2_Silent_p.A70A|RSRC2_uc001ucp.2_Silent_p.A242A|RSRC2_uc001ucr.2_Silent_p.A301A|RSRC2_uc001ucq.2_Silent_p.A69A|RSRC2_uc001ucs.2_Silent_p.A70A|RSRC2_uc001uct.2_Silent_p.A253A	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	301										ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)										0.578947	100.555991	100.862551	33	24	KEEP	---	---	---	---	capture		Silent	SNP	122992897	122992897	14195	12	G	A	A	A	548	43	RSRC2	2	2
MPHOSPH9	10198	broad.mit.edu	37	12	123694650	123694650	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123694650C>A	uc001uel.2	-	c.691G>T	c.(691-693)GAG>TAG	p.E231*	MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_Non-coding_Transcript|MPHOSPH9_uc001uem.2_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	231					M phase of mitotic cell cycle	Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)										0.357143	82.822123	84.333982	30	54	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	123694650	123694650	10120	12	C	A	A	A	416	32	MPHOSPH9	5	2
SBNO1	55206	broad.mit.edu	37	12	123782558	123782558	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:123782558G>A	uc010tap.1	-	c.4006C>T	c.(4006-4008)CGG>TGG	p.R1336W	SBNO1_uc009zxv.2_Non-coding_Transcript|SBNO1_uc010tao.1_Missense_Mutation_p.R1335W|SBNO1_uc010taq.1_Missense_Mutation_p.R287W	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	1336							ATP binding|DNA binding|hydrolase activity			breast(5)|ovary(1)|kidney(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)										0.396947	153.466518	154.685158	52	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123782558	123782558	14343	12	G	A	A	A	493	38	SBNO1	1	1
UBC	7316	broad.mit.edu	37	12	125398153	125398153	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:125398153G>A	uc001ugs.3	-	c.165C>T	c.(163-165)ACC>ACT	p.T55T	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.T55T|UBC_uc001ugt.2_Silent_p.T55T|UBC_uc001ugv.2_Silent_p.T55T|UBC_uc001ugw.2_5'UTR|UBC_uc009zyf.1_Non-coding_Transcript	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	55	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)										0.358744	233.960488	237.868517	80	143	KEEP	---	---	---	---	capture		Silent	SNP	125398153	125398153	17399	12	G	A	A	A	548	43	UBC	2	2
TMEM132B	114795	broad.mit.edu	37	12	126128773	126128773	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:126128773A>T	uc001uhe.1	+	c.1574A>T	c.(1573-1575)GAC>GTC	p.D525V	TMEM132B_uc001uhf.1_Missense_Mutation_p.D37V	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	525	Extracellular (Potential).					integral to membrane				ovary(5)|large_intestine(1)|breast(1)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)										0.428571	114.715557	115.119086	39	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126128773	126128773	16577	12	A	T	T	T	130	10	TMEM132B	3	3
TMEM132B	114795	broad.mit.edu	37	12	126135490	126135490	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:126135490C>A	uc001uhe.1	+	c.1890C>A	c.(1888-1890)ACC>ACA	p.T630T	TMEM132B_uc001uhf.1_Silent_p.T142T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	630	Extracellular (Potential).					integral to membrane				ovary(5)|large_intestine(1)|breast(1)|pancreas(1)	8	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)										0.912281	173.761727	183.538855	52	5	KEEP	---	---	---	---	capture		Silent	SNP	126135490	126135490	16577	12	C	A	A	A	262	21	TMEM132B	2	2
TMEM132D	121256	broad.mit.edu	37	12	129558885	129558885	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:129558885G>T	uc009zyl.1	-	c.2835C>A	c.(2833-2835)TAC>TAA	p.Y945*	TMEM132D_uc001uia.2_Nonsense_Mutation_p.Y483*	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	945	Cytoplasmic (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.353659	254.143652	258.791437	87	159	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	129558885	129558885	16579	12	G	T	T	T	620	48	TMEM132D	5	2
TMEM132D	121256	broad.mit.edu	37	12	129566496	129566496	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:129566496C>G	uc009zyl.1	-	c.1731G>C	c.(1729-1731)GTG>GTC	p.V577V	TMEM132D_uc001uia.2_Silent_p.V115V	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	577	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)	12	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)										0.65	85.757081	86.550415	26	14	KEEP	---	---	---	---	capture		Silent	SNP	129566496	129566496	16579	12	C	G	G	G	314	25	TMEM132D	3	3
PIWIL1	9271	broad.mit.edu	37	12	130831604	130831604	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130831604G>T	uc001uik.2	+	c.650G>T	c.(649-651)AGG>ATG	p.R217M	PIWIL1_uc001uij.1_Missense_Mutation_p.R217M	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	217					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)										0.9	216.07592	227.267055	63	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130831604	130831604	12381	12	G	T	T	T	455	35	PIWIL1	2	2
ZNF10	7556	broad.mit.edu	37	12	133732556	133732556	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:133732556G>C	uc009zzb.2	+	c.724G>C	c.(724-726)GAT>CAT	p.D242H	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.D242H	NM_015394	NP_056209	P21506	ZNF10_HUMAN	zinc finger protein 10	242				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)										0.257576	49.44293	52.959069	17	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133732556	133732556	18303	12	G	C	C	C	585	45	ZNF10	3	3
WNT5B	81029	broad.mit.edu	37	12	1748995	1748995	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:1748995G>C	uc009zdq.2	+	c.474G>C	c.(472-474)TGG>TGC	p.W158C	WNT5B_uc001qjj.2_Missense_Mutation_p.W158C|WNT5B_uc001qjk.2_Missense_Mutation_p.W158C|WNT5B_uc001qjl.2_Missense_Mutation_p.W158C	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family,	158					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)											0.416667	11.966504	12.040248	5	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1748995	1748995	17966	12	G	C	C	C	559	43	WNT5B	3	3
WNT5B	81029	broad.mit.edu	37	12	1755323	1755323	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:1755323G>T	uc009zdq.2	+	c.985G>T	c.(985-987)GTG>TTG	p.V329L	WNT5B_uc001qjj.2_Missense_Mutation_p.V329L|WNT5B_uc001qjk.2_Missense_Mutation_p.V329L|WNT5B_uc001qjl.2_Missense_Mutation_p.V329L	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family,	329					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)											0.125	4.62526	7.907576	3	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1755323	1755323	17966	12	G	T	T	T	520	40	WNT5B	1	1
CAPZA3	93661	broad.mit.edu	37	12	18891236	18891236	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:18891236G>T	uc001rdy.2	+	c.34G>T	c.(34-36)GAA>TAA	p.E12*	PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	capping protein alpha 3	12					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			ovary(1)|central_nervous_system(1)	2	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)												0.201072	152.215746	183.208837	75	298	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	18891236	18891236	2761	12	G	T	T	T	533	41	CAPZA3	5	2
LST-3TM12	338821	broad.mit.edu	37	12	21207570	21207570	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:21207570G>T	uc010sim.1	+	c.1682G>T	c.(1681-1683)AGG>ATG	p.R561M	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sin.1_Missense_Mutation_p.R514M	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	514						membrane	transporter activity				0														0.109091	5.307715	13.636035	6	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21207570	21207570	9442	12	G	T	T	T	455	35	LST-3TM12	2	2
CACNA1C	775	broad.mit.edu	37	12	2659199	2659199	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2659199C>G	uc009zdu.1	+	c.1481C>G	c.(1480-1482)GCC>GGC	p.A494G	CACNA1C_uc009zdv.1_Missense_Mutation_p.A491G|CACNA1C_uc001qkb.2_Missense_Mutation_p.A494G|CACNA1C_uc001qkc.2_Missense_Mutation_p.A494G|CACNA1C_uc001qke.2_Missense_Mutation_p.A494G|CACNA1C_uc001qkf.2_Missense_Mutation_p.A494G|CACNA1C_uc001qjz.2_Missense_Mutation_p.A494G|CACNA1C_uc001qkd.2_Missense_Mutation_p.A494G|CACNA1C_uc001qkg.2_Missense_Mutation_p.A494G|CACNA1C_uc009zdw.1_Missense_Mutation_p.A494G|CACNA1C_uc001qkh.2_Missense_Mutation_p.A494G|CACNA1C_uc001qkl.2_Missense_Mutation_p.A494G|CACNA1C_uc001qkn.2_Missense_Mutation_p.A494G|CACNA1C_uc001qko.2_Missense_Mutation_p.A494G|CACNA1C_uc001qkp.2_Missense_Mutation_p.A494G|CACNA1C_uc001qkr.2_Missense_Mutation_p.A494G|CACNA1C_uc001qku.2_Missense_Mutation_p.A494G|CACNA1C_uc001qkq.2_Missense_Mutation_p.A494G|CACNA1C_uc001qks.2_Missense_Mutation_p.A494G|CACNA1C_uc001qkt.2_Missense_Mutation_p.A494G|CACNA1C_uc001qka.1_Missense_Mutation_p.A29G|CACNA1C_uc001qki.1_Missense_Mutation_p.A230G|CACNA1C_uc001qkj.1_Missense_Mutation_p.A230G|CACNA1C_uc001qkk.1_Missense_Mutation_p.A230G|CACNA1C_uc001qkm.1_Missense_Mutation_p.A230G|CACNA1C_uc009zdy.1_Missense_Mutation_p.A119G|CACNA1C_uc001qkv.1_Missense_Mutation_p.A64G	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	494	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)									0.315789	18.844938	19.417422	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2659199	2659199	2656	12	C	G	G	G	351	27	CACNA1C	3	3
CACNA1C	775	broad.mit.edu	37	12	2675717	2675717	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2675717C>T	uc009zdu.1	+	c.1638C>T	c.(1636-1638)TAC>TAT	p.Y546Y	CACNA1C_uc009zdv.1_Silent_p.Y543Y|CACNA1C_uc001qkb.2_Silent_p.Y546Y|CACNA1C_uc001qkc.2_Silent_p.Y546Y|CACNA1C_uc001qke.2_Silent_p.Y546Y|CACNA1C_uc001qkf.2_Silent_p.Y546Y|CACNA1C_uc001qjz.2_Silent_p.Y546Y|CACNA1C_uc001qkd.2_Silent_p.Y546Y|CACNA1C_uc001qkg.2_Silent_p.Y546Y|CACNA1C_uc009zdw.1_Silent_p.Y546Y|CACNA1C_uc001qkh.2_Silent_p.Y546Y|CACNA1C_uc001qkl.2_Silent_p.Y546Y|CACNA1C_uc001qkn.2_Silent_p.Y546Y|CACNA1C_uc001qko.2_Silent_p.Y546Y|CACNA1C_uc001qkp.2_Silent_p.Y546Y|CACNA1C_uc001qkr.2_Silent_p.Y546Y|CACNA1C_uc001qku.2_Silent_p.Y546Y|CACNA1C_uc001qkq.2_Silent_p.Y546Y|CACNA1C_uc001qks.2_Silent_p.Y546Y|CACNA1C_uc001qkt.2_Silent_p.Y546Y|CACNA1C_uc001qka.1_Silent_p.Y81Y|CACNA1C_uc001qki.1_Silent_p.Y282Y|CACNA1C_uc001qkj.1_Silent_p.Y282Y|CACNA1C_uc001qkk.1_Silent_p.Y282Y|CACNA1C_uc001qkm.1_Silent_p.Y282Y|CACNA1C_uc009zdy.1_Silent_p.Y211Y|CACNA1C_uc001qkv.1_Silent_p.Y116Y	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	546	Extracellular (Potential).|II.				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)									0.4	10.89683	10.984588	4	6	KEEP	---	---	---	---	capture		Silent	SNP	2675717	2675717	2656	12	C	T	T	T	220	17	CACNA1C	2	2
CACNA1C	775	broad.mit.edu	37	12	2721178	2721178	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:2721178A>C	uc009zdu.1	+	c.3887A>C	c.(3886-3888)AAG>ACG	p.K1296T	CACNA1C_uc009zdv.1_Missense_Mutation_p.K1273T|CACNA1C_uc001qkb.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qkc.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qke.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qkf.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qjz.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qkd.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qkg.2_Missense_Mutation_p.K1276T|CACNA1C_uc009zdw.1_Missense_Mutation_p.K1276T|CACNA1C_uc001qkh.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qkl.2_Missense_Mutation_p.K1296T|CACNA1C_uc001qkn.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qko.2_Missense_Mutation_p.K1296T|CACNA1C_uc001qkp.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qkr.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qku.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qkq.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qks.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qkt.2_Missense_Mutation_p.K1276T|CACNA1C_uc001qka.1_Missense_Mutation_p.K811T|CACNA1C_uc001qki.1_Missense_Mutation_p.K1012T|CACNA1C_uc001qkj.1_Missense_Mutation_p.K1012T|CACNA1C_uc001qkk.1_Missense_Mutation_p.K1012T|CACNA1C_uc001qkm.1_Missense_Mutation_p.K1012T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1296	Cytoplasmic (Potential).|IV.				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)									0.073733	-10.784228	29.769073	16	201	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2721178	2721178	2656	12	A	C	C	C	39	3	CACNA1C	4	4
CAPRIN2	65981	broad.mit.edu	37	12	30863016	30863016	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:30863016T>A	uc001rji.1	-	c.3204A>T	c.(3202-3204)GAA>GAT	p.E1068D	CAPRIN2_uc001rjf.1_3'UTR|CAPRIN2_uc001rjg.1_Missense_Mutation_p.E735D|CAPRIN2_uc001rjh.1_Missense_Mutation_p.E1018D|CAPRIN2_uc001rjj.1_Missense_Mutation_p.E734D|CAPRIN2_uc001rjk.3_3'UTR|CAPRIN2_uc001rjl.3_3'UTR	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	1068	C1q.				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)													0.913043	210.774735	222.688453	63	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30863016	30863016	2755	12	T	A	A	A	725	56	CAPRIN2	3	3
DENND5B	160518	broad.mit.edu	37	12	31566440	31566441	+	Silent	DNP	TT	GA	GA			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:31566440_31566441TT>GA	uc001rkh.1	-	c.2715_2716AA>TC	c.(2713-2718)ATAAGA>ATTCGA	p.905_906IR>IR	DENND5B_uc001rki.1_Silent_p.870_871IR>IR|DENND5B_uc009zjq.1_Intron	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	870_871	RUN 1.					integral to membrane				ovary(1)|central_nervous_system(1)	2														0.848485	88.175991	91.993897	28	5	KEEP	---	---	---	---	capture		Silent	DNP	31566440	31566441	4616	12	TT	GA	GA	GA	726	56	DENND5B	4	4
BICD1	636	broad.mit.edu	37	12	32458750	32458750	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32458750A>T	uc001rku.2	+	c.699A>T	c.(697-699)GAA>GAT	p.E233D	BICD1_uc001rkv.2_Missense_Mutation_p.E233D|BICD1_uc010skd.1_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	233	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)	1	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)											0.571429	101.404082	101.652568	32	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32458750	32458750	1453	12	A	T	T	T	37	3	BICD1	3	3
SLC6A13	6540	broad.mit.edu	37	12	333264	333264	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:333264A>T	uc001qic.1	-	c.1205T>A	c.(1204-1206)CTG>CAG	p.L402Q	SLC6A13_uc009zdj.1_Missense_Mutation_p.L392Q|SLC6A13_uc010sdl.1_Missense_Mutation_p.L310Q	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	402					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)											0.171171	39.660447	51.004448	19	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	333264	333264	15173	12	A	T	T	T	91	7	SLC6A13	3	3
C12orf40	283461	broad.mit.edu	37	12	40040149	40040149	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40040149C>A	uc001rmc.2	+	c.221C>A	c.(220-222)ACC>AAC	p.T74N	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	74										ovary(6)	6														0.727778	449.997031	458.418777	131	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40040149	40040149	1730	12	C	A	A	A	234	18	C12orf40	2	2
KDM5A	5927	broad.mit.edu	37	12	404814	404814	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:404814G>A	uc001qif.1	-	c.4380C>T	c.(4378-4380)GAC>GAT	p.D1460D	KDM5A_uc001qie.1_Silent_p.D1465D	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	1460					chromatin modification|multicellular organismal development|oxidation-reduction process|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			skin(2)|ovary(1)	3										958				0.225	402.827488	455.424953	171	589	KEEP	---	---	---	---	capture		Silent	SNP	404814	404814	8439	12	G	A	A	A	516	40	KDM5A	1	1
LRRK2	120892	broad.mit.edu	37	12	40758836	40758836	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:40758836G>A	uc001rmg.3	+	c.7374G>A	c.(7372-7374)ATG>ATA	p.M2458I	LRRK2_uc009zjw.2_Missense_Mutation_p.M1296I|LRRK2_uc001rmi.2_Missense_Mutation_p.M1291I	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2458					activation of MAPKK activity|determination of adult lifespan|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(11)|lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|urinary_tract(1)|pancreas(1)	18	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)								1771				0.588235	193.813752	194.50635	60	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40758836	40758836	9409	12	G	A	A	A	585	45	LRRK2	2	2
CNTN1	1272	broad.mit.edu	37	12	41323682	41323682	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41323682G>T	uc001rmm.1	+	c.581G>T	c.(580-582)GGC>GTC	p.G194V	CNTN1_uc009zjy.1_Missense_Mutation_p.G194V|CNTN1_uc001rmn.1_Missense_Mutation_p.G183V|CNTN1_uc001rmo.2_Missense_Mutation_p.G194V	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	194	Ig-like C2-type 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.335484	419.178746	430.303369	156	309	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41323682	41323682	3778	12	G	T	T	T	546	42	CNTN1	2	2
CNTN1	1272	broad.mit.edu	37	12	41410621	41410621	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41410621G>A	uc001rmm.1	+	c.2322G>A	c.(2320-2322)ATG>ATA	p.M774I	CNTN1_uc001rmn.1_Missense_Mutation_p.M763I	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	774	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.254167	152.672508	165.828337	61	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41410621	41410621	3778	12	G	A	A	A	585	45	CNTN1	2	2
CNTN1	1272	broad.mit.edu	37	12	41422924	41422924	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:41422924C>A	uc001rmm.1	+	c.2883C>A	c.(2881-2883)TCC>TCA	p.S961S	CNTN1_uc001rmn.1_Silent_p.S950S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	961	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				ovary(3)|lung(2)|large_intestine(1)	6	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)								952				0.284595	297.723367	313.671755	109	274	KEEP	---	---	---	---	capture		Silent	SNP	41422924	41422924	3778	12	C	A	A	A	262	21	CNTN1	2	2
ADAMTS20	80070	broad.mit.edu	37	12	43856708	43856708	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43856708C>A	uc010skx.1	-	c.1604G>T	c.(1603-1605)GGT>GTT	p.G535V		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	535	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)						2149				0.2	12.260123	14.353006	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43856708	43856708	267	12	C	A	A	A	234	18	ADAMTS20	2	2
IRAK4	51135	broad.mit.edu	37	12	44180237	44180237	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:44180237G>T	uc001rnu.3	+	c.1224G>T	c.(1222-1224)AAG>AAT	p.K408N	IRAK4_uc001rnt.3_Missense_Mutation_p.K408N|IRAK4_uc001rnx.3_Missense_Mutation_p.K284N|IRAK4_uc001rny.3_Missense_Mutation_p.K284N|IRAK4_uc010sky.1_Missense_Mutation_p.K284N|IRAK4_uc001rnv.3_Missense_Mutation_p.K284N|IRAK4_uc001rnw.3_Missense_Mutation_p.K284N	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	408	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)						243				0.6125	151.882695	152.767638	49	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44180237	44180237	8128	12	G	T	T	T	425	33	IRAK4	2	2
TWF1	5756	broad.mit.edu	37	12	44196110	44196110	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:44196110T>A	uc001rob.2	-	c.363A>T	c.(361-363)GCA>GCT	p.A121A	TWF1_uc001rnz.2_5'UTR|TWF1_uc001roa.2_Silent_p.A121A|TWF1_uc001roc.2_5'UTR	NM_002822	NP_002813	Q12792	TWF1_HUMAN	twinfilin 1	87	ADF-H 1.				protein phosphorylation	actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			stomach(1)	1	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)						111				0.62963	117.764187	118.561814	34	20	KEEP	---	---	---	---	capture		Silent	SNP	44196110	44196110	17337	12	T	A	A	A	652	51	TWF1	3	3
NELL2	4753	broad.mit.edu	37	12	45171087	45171087	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:45171087T>A	uc010skz.1	-	c.767A>T	c.(766-768)CAA>CTA	p.Q256L	NELL2_uc001rof.3_Missense_Mutation_p.Q205L|NELL2_uc001rog.2_Missense_Mutation_p.Q206L|NELL2_uc001roh.2_Missense_Mutation_p.Q206L|NELL2_uc009zkd.2_Missense_Mutation_p.Q205L|NELL2_uc010sla.1_Missense_Mutation_p.Q229L|NELL2_uc001roi.1_Missense_Mutation_p.Q206L|NELL2_uc010slb.1_Missense_Mutation_p.Q205L|NELL2_uc001roj.2_Missense_Mutation_p.Q206L	NM_001145107	NP_001138579	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform a	206	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			central_nervous_system(1)	1	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)										0.609929	294.982477	296.476169	86	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45171087	45171087	10733	12	T	A	A	A	819	63	NELL2	3	3
SLC38A1	81539	broad.mit.edu	37	12	46622958	46622958	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:46622958T>A	uc009zkj.1	-	c.292A>T	c.(292-294)AAC>TAC	p.N98Y	SLC38A1_uc001rpb.2_Missense_Mutation_p.N98Y|SLC38A1_uc001rpc.2_Missense_Mutation_p.N98Y|SLC38A1_uc001rpd.2_Missense_Mutation_p.N98Y|SLC38A1_uc001rpe.2_Missense_Mutation_p.N98Y|SLC38A1_uc010slh.1_Missense_Mutation_p.N71Y|SLC38A1_uc001rpa.2_Missense_Mutation_p.N98Y	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	98	Extracellular (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|central_nervous_system(1)	3	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)											0.276316	50.036426	53.464483	21	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46622958	46622958	15098	12	T	A	A	A	832	64	SLC38A1	3	3
AKAP3	10566	broad.mit.edu	37	12	4735925	4735925	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4735925A>C	uc001qnb.3	-	c.2143T>G	c.(2143-2145)TAT>GAT	p.Y715D		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	715					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(2)|large_intestine(1)|ovary(1)|kidney(1)	5														0.252809	123.805418	133.670853	45	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4735925	4735925	455	12	A	C	C	C	208	16	AKAP3	4	4
AKAP3	10566	broad.mit.edu	37	12	4737038	4737038	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4737038C>T	uc001qnb.3	-	c.1030G>A	c.(1030-1032)GTC>ATC	p.V344I		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	344					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(2)|large_intestine(1)|ovary(1)|kidney(1)	5														0.209677	119.183463	138.516307	52	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4737038	4737038	455	12	C	T	T	T	247	19	AKAP3	1	1
COL2A1	1280	broad.mit.edu	37	12	48370314	48370314	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48370314C>G	uc001rqu.2	-	c.3472G>C	c.(3472-3474)GGT>CGT	p.G1158R	COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_Non-coding_Transcript|COL2A1_uc001rqv.2_Missense_Mutation_p.G1089R	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	1158	Triple-helical region.		G -> A (in STL1).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	extracellular matrix structural constituent conferring tensile strength|identical protein binding|platelet-derived growth factor binding			ovary(1)	1		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)									0.193182	33.718061	41.459242	17	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48370314	48370314	3825	12	C	G	G	G	273	21	COL2A1	3	3
PFKM	5213	broad.mit.edu	37	12	48538854	48538854	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48538854A>C	uc001rrb.1	+	c.2246A>C	c.(2245-2247)AAG>ACG	p.K749T	PFKM_uc001rra.1_Missense_Mutation_p.K363T|PFKM_uc001rrc.2_Missense_Mutation_p.K678T|PFKM_uc001rrd.2_Missense_Mutation_p.K363T|PFKM_uc001rre.1_Missense_Mutation_p.K678T|PFKM_uc001rrg.1_Missense_Mutation_p.K647T	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	678					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(1)|kidney(1)	2														0.321101	98.184053	101.284147	35	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48538854	48538854	12187	12	A	C	C	C	39	3	PFKM	4	4
H1FNT	341567	broad.mit.edu	37	12	48723814	48723814	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48723814A>C	uc001rrm.2	+	c.740A>C	c.(739-741)AAG>ACG	p.K247T		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	247					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			pancreas(1)	1														0.238095	10.560312	11.88054	5	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48723814	48723814	7201	12	A	C	C	C	39	3	H1FNT	4	4
ADCY6	112	broad.mit.edu	37	12	49166296	49166296	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49166296C>A	uc001rsh.3	-	c.2652G>T	c.(2650-2652)CTG>CTT	p.L884L	ADCY6_uc001rsj.3_Silent_p.L884L|ADCY6_uc001rsi.3_Silent_p.L831L|ADCY6_uc010slw.1_Silent_p.L115L	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	884					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0														0.367816	91.478848	92.814322	32	55	KEEP	---	---	---	---	capture		Silent	SNP	49166296	49166296	299	12	C	A	A	A	262	21	ADCY6	2	2
DDX23	9416	broad.mit.edu	37	12	49231390	49231390	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49231390C>A	uc001rsm.2	-	c.670G>T	c.(670-672)GAG>TAG	p.E224*		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	224	Glu-rich.				cis assembly of pre-catalytic spliceosome	catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)	5														0.27381	52.402048	56.267332	23	61	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	49231390	49231390	4521	12	C	A	A	A	390	30	DDX23	5	2
MLL2	8085	broad.mit.edu	37	12	49420124	49420124	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49420124C>A	uc001rta.3	-	c.15625G>T	c.(15625-15627)GGC>TGC	p.G5209C		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5209	FY-rich N-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|promoter binding|protein binding|zinc ion binding			kidney(16)|lung(4)|skin(4)|ovary(3)|pancreas(2)	29														0.361111	70.518894	71.7458	26	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49420124	49420124	10011	12	C	A	A	A	286	22	MLL2	2	2
TUBA1C	84790	broad.mit.edu	37	12	49666756	49666756	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49666756G>T	uc010smh.1	+	c.1306G>T	c.(1306-1308)GGA>TGA	p.G436*	TUBA1C_uc001rts.2_Nonsense_Mutation_p.G331*|TUBA1C_uc001rtt.1_Nonsense_Mutation_p.G366*	NM_032704	NP_116093	Q9BQE3	TBA1C_HUMAN	tubulin alpha 6	366					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0														0.359649	122.461693	124.430831	41	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	49666756	49666756	17300	12	G	T	T	T	507	39	TUBA1C	5	1
KCNH3	23416	broad.mit.edu	37	12	49948152	49948152	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49948152C>G	uc001ruh.1	+	c.1951C>G	c.(1951-1953)CGG>GGG	p.R651G	KCNH3_uc010smj.1_Missense_Mutation_p.R591G	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	651	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0														0.255319	25.872346	28.445055	12	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49948152	49948152	8338	12	C	G	G	G	295	23	KCNH3	3	3
KCNH3	23416	broad.mit.edu	37	12	49948284	49948284	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49948284G>T	uc001ruh.1	+	c.2083G>T	c.(2083-2085)GGC>TGC	p.G695C	KCNH3_uc010smj.1_Missense_Mutation_p.G635C	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	695	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0														0.222222	22.633135	25.822929	10	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49948284	49948284	8338	12	G	T	T	T	611	47	KCNH3	2	2
FAIM2	23017	broad.mit.edu	37	12	50284484	50284484	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50284484C>A	uc001rvj.1	-	c.507G>T	c.(505-507)CTG>CTT	p.L169L	FAIM2_uc001rvi.1_Silent_p.L123L|FAIM2_uc001rvk.1_Non-coding_Transcript	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	169	Helical; (Potential).				anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|ovary(1)	2														0.284644	195.564381	206.698718	76	191	KEEP	---	---	---	---	capture		Silent	SNP	50284484	50284484	5573	12	C	A	A	A	366	29	FAIM2	2	2
AQP6	363	broad.mit.edu	37	12	50367074	50367074	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50367074T>C	uc001rvr.1	+	c.118T>C	c.(118-120)TTT>CTT	p.F40L	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	aquaporin 6	40	Helical; (Potential).				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity				0														0.288462	219.920117	230.351067	75	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50367074	50367074	841	12	T	C	C	C	728	56	AQP6	4	4
TMPRSS12	283471	broad.mit.edu	37	12	51252735	51252735	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51252735A>T	uc001rwx.3	+	c.551A>T	c.(550-552)AAT>ATT	p.N184I	TMPRSS12_uc001rwy.2_Missense_Mutation_p.N184I	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane protease, serine 12 precursor	184	Peptidase S1.|Extracellular (Potential).				proteolysis	integral to membrane	serine-type endopeptidase activity				0														0.37931	32.918971	33.289197	11	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51252735	51252735	16785	12	A	T	T	T	52	4	TMPRSS12	3	3
KCNA5	3741	broad.mit.edu	37	12	5153858	5153858	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5153858G>T	uc001qni.2	+	c.545G>T	c.(544-546)GGG>GTG	p.G182V		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	182						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4														0.294118	48.573768	51.153802	20	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5153858	5153858	8311	12	G	T	T	T	559	43	KCNA5	2	2
KRT81	3887	broad.mit.edu	37	12	52681806	52681806	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52681806G>T	uc001sab.2	-	c.862C>A	c.(862-864)CGC>AGC	p.R288S	KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	keratin, hair, basic, 1	288	Rod.|Coil 2.					keratin filament	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.32	88.068202	90.945486	32	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52681806	52681806	8810	12	G	T	T	T	507	39	KRT81	1	1
KRT6B	3854	broad.mit.edu	37	12	52844334	52844334	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52844334T>G	uc001sak.2	-	c.611A>C	c.(610-612)AAG>ACG	p.K204T		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	204	Rod.|Linker 1.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)										0.083333	2.241129	38.229745	17	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52844334	52844334	8796	12	T	G	G	G	728	56	KRT6B	4	4
KRT6B	3854	broad.mit.edu	37	12	52845504	52845504	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52845504C>A	uc001sak.2	-	c.359G>T	c.(358-360)GGT>GTT	p.G120V		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	120	Head.			AGG -> LC (in Ref. 2; AAA59466).	ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)										0.096386	4.739255	18.293228	8	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52845504	52845504	8796	12	C	A	A	A	234	18	KRT6B	2	2
KRT6A	3853	broad.mit.edu	37	12	52886967	52886967	+	Silent	SNP	G	T	T	rs11540285		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52886967G>T	uc001sam.2	-	c.6C>A	c.(4-6)GCC>GCA	p.A2A		NM_005554	NP_005545	P02538	K2C6A_HUMAN	keratin 6A	2	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			ovary(4)	4				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.268293	28.705258	30.693377	11	30	KEEP	---	---	---	---	capture		Silent	SNP	52886967	52886967	8795	12	G	T	T	T	600	47	KRT6A	2	2
KRT5	3852	broad.mit.edu	37	12	52913793	52913793	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52913793G>T	uc001san.2	-	c.288C>A	c.(286-288)GGC>GGA	p.G96G	KRT5_uc009zmh.2_Silent_p.G96G	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	96	Head.|Gly-rich.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)										0.284916	129.786469	137.198753	51	128	KEEP	---	---	---	---	capture		Silent	SNP	52913793	52913793	8794	12	G	T	T	T	431	34	KRT5	2	2
KRT71	112802	broad.mit.edu	37	12	52943834	52943834	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52943834A>G	uc001sao.2	-	c.635T>C	c.(634-636)GTA>GCA	p.V212A		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	keratin 71	212	Coil 1B.|Rod.						structural molecule activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(357;0.194)										0.332031	271.50223	277.894138	85	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52943834	52943834	8799	12	A	G	G	G	182	14	KRT71	4	4
KRT72	140807	broad.mit.edu	37	12	52986695	52986695	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:52986695T>G	uc001sar.2	-	c.683A>C	c.(682-684)GAG>GCG	p.E228A	KRT72_uc001saq.2_Missense_Mutation_p.E228A|KRT72_uc010sns.1_Missense_Mutation_p.E228A|KRT72_uc010snt.1_Missense_Mutation_p.E40A	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	228	Coil 1B.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)										0.223684	79.972959	90.641093	34	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52986695	52986695	8800	12	T	G	G	G	702	54	KRT72	4	4
KRT1	3848	broad.mit.edu	37	12	53070112	53070112	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53070112G>T	uc001sau.1	-	c.1422C>A	c.(1420-1422)GCC>GCA	p.A474A	KRT1_uc001sav.1_Silent_p.A474A	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	474	Rod.|Coil 2.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)	1														0.234234	57.896809	65.072311	26	85	KEEP	---	---	---	---	capture		Silent	SNP	53070112	53070112	8762	12	G	T	T	T	548	43	KRT1	2	2
KRT77	374454	broad.mit.edu	37	12	53086372	53086372	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53086372G>T	uc001saw.2	-	c.1260C>A	c.(1258-1260)GCC>GCA	p.A420A	KRT77_uc009zmi.2_Silent_p.A178A	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	420	Rod.|Coil 2.					keratin filament	structural molecule activity			ovary(1)	1														0.340278	128.809161	132.066616	49	95	KEEP	---	---	---	---	capture		Silent	SNP	53086372	53086372	8805	12	G	T	T	T	548	43	KRT77	2	2
KRT76	51350	broad.mit.edu	37	12	53165751	53165751	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53165751C>A	uc001sax.2	-	c.1167G>T	c.(1165-1167)AGG>AGT	p.R389S		NM_015848	NP_056932	Q01546	K22O_HUMAN	keratin 76	389	Rod.|Coil 2.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)	1														0.302521	87.33926	91.492721	36	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53165751	53165751	8804	12	C	A	A	A	337	26	KRT76	2	2
SP7	121340	broad.mit.edu	37	12	53722395	53722395	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53722395C>A	uc001sct.2	-	c.831G>T	c.(829-831)GAG>GAT	p.E277D	SP7_uc001scu.2_Missense_Mutation_p.E259D|SP7_uc001scv.2_Missense_Mutation_p.E277D	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	osterix	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.36	26.069474	26.500259	9	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53722395	53722395	15469	12	C	A	A	A	363	28	SP7	2	2
SP1	6667	broad.mit.edu	37	12	53800476	53800476	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:53800476G>T	uc001scw.2	+	c.1783G>T	c.(1783-1785)GCC>TCC	p.A595S	SP1_uc010sog.1_Missense_Mutation_p.A588S	NM_138473	NP_612482	P08047	SP1_HUMAN	Sp1 transcription factor isoform a	595	Transactivation domain C (highly charged).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter, global	cytoplasm|nucleus	double-stranded DNA binding|histone deacetylase binding|promoter binding|protein C-terminus binding|protein homodimerization activity|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)						103				0.681818	134.076395	136.011156	45	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53800476	53800476	15459	12	G	T	T	T	442	34	SP1	2	2
HNRNPA1	3178	broad.mit.edu	37	12	54676198	54676198	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54676198A>G	uc001sfl.2	+	c.511A>G	c.(511-513)AAT>GAT	p.N171D	CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.N171D|HNRNPA1_uc009zng.2_Missense_Mutation_p.N171D|HNRNPA1_uc009znh.2_Missense_Mutation_p.N171D|HNRNPA1_uc009zni.2_Missense_Mutation_p.N171D|HNRNPA1_uc001sfn.2_Missense_Mutation_p.N171D|HNRNPA1_uc001sfo.3_Non-coding_Transcript|HNRNPA1_uc001sfp.1_Missense_Mutation_p.N126D|HNRNPA1_uc009znj.1_Missense_Mutation_p.N126D	NM_031157	NP_112420	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	171	Globular B domain.|RRM 2.				interspecies interaction between organisms|mRNA transport|nuclear import|nuclear mRNA splicing, via spliceosome|RNA export from nucleus	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding|single-stranded RNA binding			ovary(1)	1						Colon(83;502 1289 8436 16406 24870)								0.75	17.450965	17.904509	6	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54676198	54676198	7549	12	A	G	G	G	117	9	HNRNPA1	4	4
ITGA5	3678	broad.mit.edu	37	12	54793518	54793518	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54793518T>A	uc001sga.2	-	c.2752A>T	c.(2752-2754)AGG>TGG	p.R918W		NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	918	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(1)	1										322		OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.64497	364.111199	367.240371	109	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54793518	54793518	8183	12	T	A	A	A	713	55	ITGA5	3	3
PPP1R1A	5502	broad.mit.edu	37	12	54976577	54976577	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:54976577G>A	uc001sgg.2	-	c.186C>T	c.(184-186)TCC>TCT	p.S62S		NM_006741	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	62					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity				0														0.260714	194.700033	209.181718	73	207	KEEP	---	---	---	---	capture		Silent	SNP	54976577	54976577	12802	12	G	A	A	A	600	47	PPP1R1A	2	2
KIAA0748	9840	broad.mit.edu	37	12	55359894	55359894	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55359894A>C	uc001sgn.3	-	c.389T>G	c.(388-390)CTT>CGT	p.L130R	KIAA0748_uc001sgl.3_5'UTR|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_5'UTR|KIAA0748_uc010spd.1_Missense_Mutation_p.L130R|KIAA0748_uc001sgo.3_Non-coding_Transcript	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	130										ovary(1)|central_nervous_system(1)	2														0.287356	60.633783	64.165984	25	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55359894	55359894	8497	12	A	C	C	C	39	3	KIAA0748	4	4
OR9K2	441639	broad.mit.edu	37	12	55524038	55524038	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55524038C>A	uc010spe.1	+	c.486C>A	c.(484-486)TCC>TCA	p.S162S		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K,	162	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2														0.615385	360.522884	362.643172	112	70	KEEP	---	---	---	---	capture		Silent	SNP	55524038	55524038	11665	12	C	A	A	A	262	21	OR9K2	2	2
OR6C1	390321	broad.mit.edu	37	12	55715252	55715252	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55715252T>A	uc010spi.1	+	c.869T>A	c.(868-870)CTA>CAA	p.L290Q		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C,	290	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.299145	192.468704	200.899304	70	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55715252	55715252	11600	12	T	A	A	A	689	53	OR6C1	3	3
OR6C3	254786	broad.mit.edu	37	12	55725587	55725587	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55725587A>C	uc010spj.1	+	c.103A>C	c.(103-105)AGT>CGT	p.S35R		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	35	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.374558	309.066014	312.980533	106	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55725587	55725587	11602	12	A	C	C	C	39	3	OR6C3	4	4
OR6C3	254786	broad.mit.edu	37	12	55725638	55725638	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55725638C>T	uc010spj.1	+	c.154C>T	c.(154-156)CTG>TTG	p.L52L		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C,	52	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.3125	290.982442	300.99781	100	220	KEEP	---	---	---	---	capture		Silent	SNP	55725638	55725638	11602	12	C	T	T	T	415	32	OR6C3	2	2
OR6C75	390323	broad.mit.edu	37	12	55759174	55759174	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55759174G>T	uc010spk.1	+	c.280G>T	c.(280-282)GGG>TGG	p.G94W		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2														0.295455	176.879757	185.120199	65	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55759174	55759174	11609	12	G	T	T	T	611	47	OR6C75	2	2
OR6C76	390326	broad.mit.edu	37	12	55820397	55820397	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55820397T>C	uc010spm.1	+	c.360T>C	c.(358-360)TAT>TAC	p.Y120Y		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.282051	159.705589	169.729068	66	168	KEEP	---	---	---	---	capture		Silent	SNP	55820397	55820397	11610	12	T	C	C	C	660	51	OR6C76	4	4
OR6C68	403284	broad.mit.edu	37	12	55886799	55886799	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55886799T>G	uc010spo.1	+	c.653T>G	c.(652-654)GTT>GGT	p.V218G		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.142857	19.473098	28.938071	11	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55886799	55886799	11606	12	T	G	G	G	780	60	OR6C68	4	4
OR6C68	403284	broad.mit.edu	37	12	55887043	55887043	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55887043A>C	uc010spo.1	+	c.897A>C	c.(895-897)CAA>CAC	p.Q299H		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C,	294	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.0875	0.85898	14.640176	7	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55887043	55887043	11606	12	A	C	C	C	37	3	OR6C68	4	4
MMP19	4327	broad.mit.edu	37	12	56233400	56233401	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56233400_56233401GG>AT	uc001sib.2	-	c.645_646CC>AT	c.(643-648)GGCCAT>GGATAT	p.H216Y	MMP19_uc001sia.2_5'UTR|MMP19_uc001sid.2_Non-coding_Transcript|MMP19_uc010spw.1_Intron	NM_002429	NP_002420	Q99542	MMP19_HUMAN	matrix metalloproteinase 19 isoform rasi-1	216		Zinc; catalytic (By similarity).			angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)	1														0.289855	51.971371	54.702626	20	49	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	56233400	56233401	10047	12	GG	AT	AT	AT	611	47	MMP19	2	2
SUOX	6821	broad.mit.edu	37	12	56398063	56398063	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56398063G>T	uc001six.2	+	c.890G>T	c.(889-891)CGG>CTG	p.R297L	SUOX_uc001siy.2_Missense_Mutation_p.R297L|SUOX_uc001siz.2_Missense_Mutation_p.R297L|SUOX_uc001sja.2_Missense_Mutation_p.R297L	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	297	Molybdenum-pterin domain (By similarity).				oxidation-reduction process	mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)											0.293103	47.353274	49.575175	17	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56398063	56398063	15915	12	G	T	T	T	507	39	SUOX	1	1
ZC3H10	84872	broad.mit.edu	37	12	56514389	56514389	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56514389G>T	uc001sjp.1	+	c.43G>T	c.(43-45)GGT>TGT	p.G15C		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	15	Gly-rich.						nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)											0.304348	20.718617	21.502846	7	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56514389	56514389	18147	12	G	T	T	T	507	39	ZC3H10	1	1
ESYT1	23344	broad.mit.edu	37	12	56531639	56531639	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:56531639C>G	uc001sjr.2	+	c.2169C>G	c.(2167-2169)GGC>GGG	p.G723G	ESYT1_uc001sjq.2_Silent_p.G713G	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	713	C2 3.					integral to membrane				ovary(4)	4														0.291367	240.261222	251.104033	81	197	KEEP	---	---	---	---	capture		Silent	SNP	56531639	56531639	5457	12	C	G	G	G	327	26	ESYT1	3	3
ANO2	57101	broad.mit.edu	37	12	5685159	5685159	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:5685159G>T	uc001qnm.2	-	c.2462C>A	c.(2461-2463)TCC>TAC	p.S821Y		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	826	Extracellular (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7														0.814815	65.656089	68.166258	22	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5685159	5685159	705	12	G	T	T	T	533	41	ANO2	2	2
PTGES3	10728	broad.mit.edu	37	12	57066595	57066595	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57066595T>A	uc001slu.3	-	c.117_splice	c.e3-1	p.S39_splice	PTGES3_uc001slw.3_Splice_Site_SNP|PTGES3_uc010sqs.1_Splice_Site_SNP_p.S39_splice|PTGES3_uc001slv.3_Splice_Site_SNP_p.S39_splice|PTGES3_uc010sqt.1_Splice_Site_SNP_p.S39_splice|PTGES3_uc009zox.2_Intron	NM_006601	NP_006592			prostaglandin-E synthase 3						chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction	chromosome, telomeric region|cytosol|telomerase holoenzyme complex	prostaglandin-E synthase activity|telomerase activity|unfolded protein binding				0														0.333333	27.974299	28.634382	9	18	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	57066595	57066595	13203	12	T	A	A	A	715	55	PTGES3	5	3
INHBE	83729	broad.mit.edu	37	12	57849344	57849344	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:57849344T>C	uc001snw.2	+	c.25T>C	c.(25-27)TGG>CGG	p.W9R		NM_031479	NP_113667	P58166	INHBE_HUMAN	activin beta E precursor	9					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)	3						GBM(191;1808 2166 15720 36624 50371)								0.236842	40.408909	45.222809	18	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57849344	57849344	8045	12	T	C	C	C	715	55	INHBE	4	4
GEFT	115557	broad.mit.edu	37	12	58010136	58010136	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58010136C>G	uc009zpy.2	+	c.1607C>G	c.(1606-1608)CCT>CGT	p.P536R	GEFT_uc001spb.2_Missense_Mutation_p.P497R|GEFT_uc001spa.2_Missense_Mutation_p.P391R|GEFT_uc001spd.2_Missense_Mutation_p.P202R	NM_001111270	NP_001104740	Q86VW2	ARHGP_HUMAN	RhoA/RAC/CDC42 exchange factor isoform 3	497					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity				0	Melanoma(17;0.122)													0.333333	110.356263	113.310207	40	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58010136	58010136	6596	12	C	G	G	G	312	24	GEFT	3	3
SLC26A10	65012	broad.mit.edu	37	12	58018915	58018915	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:58018915A>T	uc001spe.2	+	c.1354A>T	c.(1354-1356)AAG>TAG	p.K452*	SLC26A10_uc001spf.2_Non-coding_Transcript|SLC26A10_uc009zpz.1_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	452	STAS.					integral to membrane	antiporter activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(17;0.122)													0.351738	458.903427	468.40484	172	317	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	58018915	58018915	15012	12	A	T	T	T	13	1	SLC26A10	5	3
VWF	7450	broad.mit.edu	37	12	6122739	6122739	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6122739G>T	uc001qnn.1	-	c.5528C>A	c.(5527-5529)GCA>GAA	p.A1843E	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1843	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7					Antihemophilic Factor(DB00025)									0.504673	162.615024	162.616733	54	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6122739	6122739	17818	12	G	T	T	T	598	46	VWF	2	2
SRGAP1	57522	broad.mit.edu	37	12	64536284	64536284	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:64536284C>T	uc010ssp.1	+	c.3090C>T	c.(3088-3090)TCC>TCT	p.S1030S	SRGAP1_uc001srv.2_Silent_p.S967S	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1030	Poly-Ser.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)										0.138728	42.428068	64.213443	24	149	KEEP	---	---	---	---	capture		Silent	SNP	64536284	64536284	15659	12	C	T	T	T	301	24	SRGAP1	2	2
NINJ2	4815	broad.mit.edu	37	12	675315	675315	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:675315G>T	uc001qil.2	-	c.201C>A	c.(199-201)CCC>CCA	p.P67P	NINJ2_uc010sdr.1_5'UTR|NINJ2_uc010sds.1_Silent_p.P67P	NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	ninjurin 2	21	Extracellular (Potential).				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				ovary(2)	2	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)											0.227848	43.581891	48.900493	18	61	KEEP	---	---	---	---	capture		Silent	SNP	675315	675315	10820	12	G	T	T	T	600	47	NINJ2	2	2
IFNG	3458	broad.mit.edu	37	12	68553297	68553297	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:68553297G>T	uc001stw.1	-	c.99C>A	c.(97-99)AAC>AAA	p.N33K		NM_000619	NP_000610	P01579	IFNG_HUMAN	interferon, gamma precursor	33					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)					63				0.368421	19.819851	20.10906	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68553297	68553297	7849	12	G	T	T	T	568	44	IFNG	2	2
GPR162	27239	broad.mit.edu	37	12	6936304	6936304	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6936304A>C	uc001qqw.1	+	c.1702A>C	c.(1702-1704)AGT>CGT	p.S568R	LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Missense_Mutation_p.S284R|GPR162_uc009zfd.1_Missense_Mutation_p.S264R|GPR162_uc001qqy.1_Intron	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	568	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.146341	6.220251	11.157452	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6936304	6936304	6941	12	A	C	C	C	39	3	GPR162	4	4
LEPREL2	10536	broad.mit.edu	37	12	6946733	6946733	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6946733A>G	uc001qra.1	+	c.1707A>G	c.(1705-1707)ATA>ATG	p.I569M	LEPREL2_uc001qqz.1_Missense_Mutation_p.I376M|LEPREL2_uc001qrb.1_Missense_Mutation_p.I376M	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2 precursor	569	Fe2OG dioxygenase.				negative regulation of cell proliferation|oxidation-reduction process	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)									0.25	28.247438	30.508697	10	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6946733	6946733	9055	12	A	G	G	G	189	15	LEPREL2	4	4
USP5	8078	broad.mit.edu	37	12	6965537	6965537	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:6965537G>T	uc001qri.3	+	c.507G>T	c.(505-507)TGG>TGT	p.W169C	USP5_uc001qrh.3_Missense_Mutation_p.W169C	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	169					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding				0														0.471429	195.650508	195.748081	66	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6965537	6965537	17645	12	G	T	T	T	559	43	USP5	2	2
LRRC23	10233	broad.mit.edu	37	12	7014888	7014888	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7014888G>T	uc001qrt.3	+	c.91G>T	c.(91-93)GAC>TAC	p.D31Y	LRRC23_uc001qrn.1_Missense_Mutation_p.D31Y|LRRC23_uc009zfg.2_Intron|LRRC23_uc001qrp.2_Missense_Mutation_p.D31Y|LRRC23_uc001qrq.2_Missense_Mutation_p.D31Y|LRRC23_uc001qrr.2_Missense_Mutation_p.R16S|LRRC23_uc001qrs.2_Missense_Mutation_p.R16S|LRRC23_uc009zfh.2_Missense_Mutation_p.D31Y	NM_001135217	NP_001128689	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23 isoform a	31										ovary(1)	1														0.217391	62.69491	72.846675	30	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7014888	7014888	9352	12	G	T	T	T	533	41	LRRC23	2	2
ATN1	1822	broad.mit.edu	37	12	7050065	7050065	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7050065C>G	uc001qrw.1	+	c.3237C>G	c.(3235-3237)CTC>CTG	p.L1079L	ATN1_uc001qrx.1_Silent_p.L1079L|C12orf57_uc009zfj.1_5'Flank	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	1079					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)	5														0.171717	39.91465	49.996159	17	82	KEEP	---	---	---	---	capture		Silent	SNP	7050065	7050065	1130	12	C	G	G	G	366	29	ATN1	3	3
CNOT2	4848	broad.mit.edu	37	12	70723271	70723271	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:70723271G>A	uc001svv.2	+	c.307G>A	c.(307-309)GGC>AGC	p.G103S	CNOT2_uc009zro.2_Missense_Mutation_p.G103S|CNOT2_uc009zrp.2_Missense_Mutation_p.G83S|CNOT2_uc009zrq.2_Missense_Mutation_p.G103S	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	103					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter, global|transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA polymerase II transcription mediator activity				0	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)											0.376884	458.164447	463.454541	150	248	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70723271	70723271	3757	12	G	A	A	A	455	35	CNOT2	2	2
ACSM4	341392	broad.mit.edu	37	12	7476108	7476108	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7476108C>A	uc001qsx.1	+	c.1260C>A	c.(1258-1260)GCC>GCA	p.A420A		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	420					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0														0.197605	70.206515	84.408942	33	134	KEEP	---	---	---	---	capture		Silent	SNP	7476108	7476108	187	12	C	A	A	A	275	22	ACSM4	2	2
CD163L1	283316	broad.mit.edu	37	12	7531839	7531839	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:7531839T>G	uc010sge.1	-	c.2136A>C	c.(2134-2136)AAA>AAC	p.K712N	CD163L1_uc001qsy.2_Missense_Mutation_p.K702N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	702	SRCR 7.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|central_nervous_system(1)	9														0.12069	8.283395	16.466596	7	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7531839	7531839	3095	12	T	G	G	G	725	56	CD163L1	4	4
BBS10	79738	broad.mit.edu	37	12	76740920	76740920	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:76740920T>A	uc001syd.1	-	c.845A>T	c.(844-846)CAG>CTG	p.Q282L		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	282					cellular protein metabolic process|photoreceptor cell maintenance|response to stimulus|retina homeostasis|sensory cilium assembly	cilium	ATP binding			ovary(1)	1														0.380952	23.594203	23.855516	8	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76740920	76740920	1357	12	T	A	A	A	715	55	BBS10	3	3
E2F7	144455	broad.mit.edu	37	12	77421834	77421834	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:77421834C>A	uc001sym.3	-	c.1969G>T	c.(1969-1971)GGC>TGC	p.G657C	E2F7_uc009zse.2_Missense_Mutation_p.G144C	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	657					cell cycle|regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|identical protein binding			ovary(1)|kidney(1)	2														0.416	158.877504	159.647727	52	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77421834	77421834	5058	12	C	A	A	A	273	21	E2F7	2	2
NAV3	89795	broad.mit.edu	37	12	78400870	78400870	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78400870G>A	uc001syp.2	+	c.1552G>A	c.(1552-1554)GAA>AAA	p.E518K	NAV3_uc001syo.2_Missense_Mutation_p.E518K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	518						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.160256	46.47025	63.618881	25	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78400870	78400870	10581	12	G	A	A	A	533	41	NAV3	2	2
NAV3	89795	broad.mit.edu	37	12	78513494	78513494	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78513494C>T	uc001syp.2	+	c.3518C>T	c.(3517-3519)GCC>GTC	p.A1173V	NAV3_uc001syo.2_Missense_Mutation_p.A1173V|NAV3_uc010sub.1_Missense_Mutation_p.A673V|NAV3_uc009zsf.2_Missense_Mutation_p.A181V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1173	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|kidney(1)|pancreas(1)	16										1091				0.898876	257.946044	272.06802	80	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78513494	78513494	10581	12	C	T	T	T	338	26	NAV3	2	2
PPFIA2	8499	broad.mit.edu	37	12	82147948	82147948	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:82147948C>T	uc001szo.1	-	c.53G>A	c.(52-54)AGG>AAG	p.R18K	PPFIA2_uc010suj.1_Non-coding_Transcript|PPFIA2_uc009zsi.1_Non-coding_Transcript	NM_003625	NP_003616	O75334	LIPA2_HUMAN	PTPRF interacting protein alpha 2	18					cell-matrix adhesion	cell surface|cytoplasm	protein binding			ovary(3)|lung(2)|pancreas(1)	6														0.474576	92.997453	93.030575	28	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82147948	82147948	12740	12	C	T	T	T	312	24	PPFIA2	2	2
FAM90A1	55138	broad.mit.edu	37	12	8374535	8374535	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8374535C>G	uc001qui.2	-	c.1278G>C	c.(1276-1278)CAG>CAC	p.Q426H	FAM90A1_uc001quh.2_Missense_Mutation_p.Q426H	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	426							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)										0.58	97.681545	97.960459	29	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8374535	8374535	5876	12	C	G	G	G	415	32	FAM90A1	3	3
CLEC6A	93978	broad.mit.edu	37	12	8628802	8628802	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8628802T>C	uc001qum.1	+	c.451T>C	c.(451-453)TGG>CGG	p.W151R		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	dectin-2	151	Extracellular (Potential).|C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)	1	Lung SC(5;0.184)													0.306667	129.293307	134.292956	46	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8628802	8628802	3658	12	T	C	C	C	663	51	CLEC6A	4	4
A2ML1	144568	broad.mit.edu	37	12	8990976	8990976	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8990976C>A	uc001quz.3	+	c.900C>A	c.(898-900)ACC>ACA	p.T300T		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1 precursor	144						extracellular space	endopeptidase inhibitor activity			ovary(2)	2														0.29386	171.805951	180.501504	67	161	KEEP	---	---	---	---	capture		Silent	SNP	8990976	8990976	6	12	C	A	A	A	301	24	A2ML1	2	2
A2ML1	144568	broad.mit.edu	37	12	9002792	9002792	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9002792C>A	uc001quz.3	+	c.2156C>A	c.(2155-2157)ACT>AAT	p.T719N	A2ML1_uc001qva.1_Missense_Mutation_p.T299N|A2ML1_uc010sgm.1_Missense_Mutation_p.T219N	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1 precursor	563						extracellular space	endopeptidase inhibitor activity			ovary(2)	2														0.265487	450.4643	484.141266	180	498	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9002792	9002792	6	12	C	A	A	A	260	20	A2ML1	2	2
KLRG1	10219	broad.mit.edu	37	12	9147751	9147751	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9147751G>T	uc001qvh.2	+	c.224G>T	c.(223-225)TGC>TTC	p.C75F	KLRG1_uc001qvg.2_Missense_Mutation_p.C75F	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G,	75	Extracellular (Potential).				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			central_nervous_system(1)	1														0.322917	87.19917	89.867919	31	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9147751	9147751	8735	12	G	T	T	T	598	46	KLRG1	2	2
PZP	5858	broad.mit.edu	37	12	9344805	9344805	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:9344805A>T	uc001qvl.2	-	c.1530T>A	c.(1528-1530)CCT>CCA	p.P510P	PZP_uc009zgl.2_Silent_p.P379P	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.340541	183.069889	187.226996	63	122	KEEP	---	---	---	---	capture		Silent	SNP	9344805	9344805	13327	12	A	T	T	T	80	7	PZP	3	3
WNK1	65125	broad.mit.edu	37	12	936338	936338	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:936338A>G	uc001qio.3	+	c.1063A>G	c.(1063-1065)ATC>GTC	p.I355V	WNK1_uc001qin.2_Missense_Mutation_p.I355V|WNK1_uc001qip.3_Missense_Mutation_p.I355V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	355	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development|protein phosphorylation	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			ovary(5)|breast(4)|large_intestine(1)|lung(1)|central_nervous_system(1)	12	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			Colon(19;451 567 6672 12618 28860)			p.C352fs(EBC1-Tumor)	913				0.244604	236.440672	261.239978	102	315	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	936338	936338	17951	12	A	G	G	G	104	8	WNK1	4	4
LTA4H	4048	broad.mit.edu	37	12	96408740	96408740	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:96408740A>C	uc001ten.1	-	c.1097T>G	c.(1096-1098)CTT>CGT	p.L366R	LTA4H_uc010suy.1_Missense_Mutation_p.L328R|LTA4H_uc010suz.1_Missense_Mutation_p.L328R|LTA4H_uc010sva.1_Non-coding_Transcript|LTA4H_uc009ztj.2_Non-coding_Transcript	NM_000895	NP_000886	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	366					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)	1														0.5375	376.646091	376.936278	129	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96408740	96408740	9445	12	A	C	C	C	39	3	LTA4H	4	4
ANKS1B	56899	broad.mit.edu	37	12	99194797	99194797	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:99194797T>A	uc001tge.1	-	c.3173A>T	c.(3172-3174)CAG>CTG	p.Q1058L	ANKS1B_uc001tgf.1_Missense_Mutation_p.Q574L|ANKS1B_uc001tgk.2_Missense_Mutation_p.Q355L|ANKS1B_uc010svd.1_Missense_Mutation_p.Q64L|ANKS1B_uc001tgd.1_Missense_Mutation_p.Q224L|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_Missense_Mutation_p.Q88L|ANKS1B_uc001tgh.3_Missense_Mutation_p.Q64L|ANKS1B_uc001tgi.2_Missense_Mutation_p.Q308L|ANKS1B_uc009ztr.2_Missense_Mutation_p.Q248L|ANKS1B_uc001tgj.2_Missense_Mutation_p.Q224L|ANKS1B_uc009ztp.2_Missense_Mutation_p.Q89L|ANKS1B_uc010svf.1_Missense_Mutation_p.Q88L|ANKS1B_uc001tgg.3_Missense_Mutation_p.Q156L|ANKS1B_uc010svg.1_Missense_Mutation_p.Q193L|ANKS1B_uc009zts.1_Missense_Mutation_p.Q284L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	1058	PID.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)										0.842697	256.779658	266.749337	75	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99194797	99194797	697	12	T	A	A	A	715	55	ANKS1B	3	3
TM9SF2	9375	broad.mit.edu	37	13	100188942	100188942	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:100188942G>T	uc001voj.1	+	c.542G>T	c.(541-543)GGC>GTC	p.G181V	TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	181	Lumenal (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)													0.127273	27.682275	50.020538	21	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100188942	100188942	16508	13	G	T	T	T	546	42	TM9SF2	2	2
TMTC4	84899	broad.mit.edu	37	13	101287161	101287161	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101287161G>A	uc001vot.2	-	c.1404C>T	c.(1402-1404)ATC>ATT	p.I468I	TMTC4_uc001vou.2_Silent_p.I449I|TMTC4_uc010tja.1_Silent_p.I338I|TMTC4_uc001vov.1_Silent_p.I194I|TMTC4_uc001vow.1_Silent_p.I232I	NM_032813	NP_116202	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	449	TPR 1.|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)													0.164474	100.254046	132.75018	50	254	KEEP	---	---	---	---	capture		Silent	SNP	101287161	101287161	16804	13	G	A	A	A	421	33	TMTC4	2	2
TMTC4	84899	broad.mit.edu	37	13	101321050	101321050	+	Splice_Site_SNP	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101321050T>C	uc001vot.2	-	c.4_splice	c.e3-1	p.I2_splice	TMTC4_uc001vou.2_Splice_Site_SNP|TMTC4_uc010tja.1_Splice_Site_SNP	NM_032813	NP_116202			transmembrane and tetratricopeptide repeat							integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)													0.233871	56.662885	64.756989	29	95	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	101321050	101321050	16804	13	T	C	C	C	715	55	TMTC4	5	4
NALCN	259232	broad.mit.edu	37	13	101710324	101710324	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101710324G>A	uc001vox.1	-	c.4990C>T	c.(4990-4992)CAG>TAG	p.Q1664*		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1664	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.258065	164.496587	177.644256	64	184	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	101710324	101710324	10544	13	G	A	A	A	611	47	NALCN	5	2
MYO16	23026	broad.mit.edu	37	13	109475610	109475610	+	Missense_Mutation	SNP	G	T	T	rs405397	byFrequency;by1000genomes	TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:109475610G>T	uc010agk.1	+	c.1081G>T	c.(1081-1083)GTA>TTA	p.V361L	MYO16_uc001vqt.1_Missense_Mutation_p.V339L|MYO16_uc001vqu.1_Missense_Mutation_p.V139L	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	339					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)											0.22	166.515438	188.155314	66	234	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109475610	109475610	10459	13	G	T	T	T	520	40	MYO16	1	1
MYO16	23026	broad.mit.edu	37	13	109507876	109507876	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:109507876A>T	uc010agk.1	+	c.1334A>T	c.(1333-1335)AAG>ATG	p.K445M	MYO16_uc001vqt.1_Missense_Mutation_p.K423M|MYO16_uc001vqu.1_Missense_Mutation_p.K223M	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	423	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(5)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	9	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)											0.190244	82.299029	100.695318	39	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109507876	109507876	10459	13	A	T	T	T	39	3	MYO16	3	3
COL4A1	1282	broad.mit.edu	37	13	110822021	110822021	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:110822021G>T	uc001vqw.3	-	c.3831C>A	c.(3829-3831)CCC>CCA	p.P1277P	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1277	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)											0.216783	79.169732	89.73167	31	112	KEEP	---	---	---	---	capture		Silent	SNP	110822021	110822021	3827	13	G	T	T	T	496	39	COL4A1	1	1
COL4A2	1284	broad.mit.edu	37	13	111143618	111143618	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:111143618G>T	uc001vqx.2	+	c.3385G>T	c.(3385-3387)GAC>TAC	p.D1129Y		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1129	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)											0.157895	5.211963	7.333167	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111143618	111143618	3828	13	G	T	T	T	585	45	COL4A2	2	2
LAMP1	3916	broad.mit.edu	37	13	113960865	113960865	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:113960865A>G	uc001vtm.1	+	c.127A>G	c.(127-129)ATG>GTG	p.M43V	LAMP1_uc010tka.1_Missense_Mutation_p.M43V	NM_005561	NP_005552	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	43	Lumenal (Potential).|First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				central_nervous_system(2)	2	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)							242				0.203008	66.864225	77.746487	27	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113960865	113960865	8940	13	A	G	G	G	52	4	LAMP1	4	4
RASA3	22821	broad.mit.edu	37	13	114786936	114786936	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:114786936C>A	uc001vui.2	-	c.729G>T	c.(727-729)CTG>CTT	p.L243L	RASA3_uc010tkk.1_Silent_p.L211L|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_Non-coding_Transcript|RASA3_uc010aha.1_Non-coding_Transcript	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	243	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(1)|skin(1)	2	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)							4289				0.225	21.668364	24.437396	9	31	KEEP	---	---	---	---	capture		Silent	SNP	114786936	114786936	13522	13	C	A	A	A	262	21	RASA3	2	2
RASA3	22821	broad.mit.edu	37	13	114839306	114839306	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:114839306G>T	uc001vui.2	-	c.62C>A	c.(61-63)GCC>GAC	p.A21D	RASA3_uc010tkk.1_5'UTR|RASA3_uc001vuj.2_5'UTR|RASA3_uc010tkl.1_Non-coding_Transcript	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	21	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(1)|skin(1)	2	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)							4289				0.205882	46.014317	54.199546	21	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114839306	114839306	13522	13	G	T	T	T	546	42	RASA3	2	2
TPTE2	93492	broad.mit.edu	37	13	19997208	19997208	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:19997208C>A	uc001umd.2	-	c.1563G>T	c.(1561-1563)GAG>GAT	p.E521D	TPTE2_uc009zzk.2_Non-coding_Transcript|TPTE2_uc009zzl.2_Missense_Mutation_p.E410D|TPTE2_uc001ume.2_Missense_Mutation_p.E444D|TPTE2_uc009zzm.2_Missense_Mutation_p.E192D|TPTE2_uc010tcm.1_Non-coding_Transcript|TPTE2_uc010tcl.1_Missense_Mutation_p.E192D	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	521	C2 tensin-type.			E -> K (in Ref. 1; CAD13144 and 2; AAP45146).		endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)										0.914286	206.441579	218.61166	64	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19997208	19997208	16975	13	C	A	A	A	415	32	TPTE2	2	2
SACS	26278	broad.mit.edu	37	13	23907231	23907231	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:23907231A>C	uc001uon.2	-	c.10784T>G	c.(10783-10785)CTT>CGT	p.L3595R	SACS_uc001uoo.2_Missense_Mutation_p.L3448R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3595					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)						738				0.344828	27.840016	28.457235	10	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23907231	23907231	14284	13	A	C	C	C	39	3	SACS	4	4
SACS	26278	broad.mit.edu	37	13	23908500	23908500	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:23908500T>C	uc001uon.2	-	c.9515A>G	c.(9514-9516)AAG>AGG	p.K3172R	SACS_uc001uoo.2_Missense_Mutation_p.K3025R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3172					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)|skin(1)	11		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)						738				0.333333	27.866046	28.53024	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23908500	23908500	14284	13	T	C	C	C	728	56	SACS	4	4
C1QTNF9	338872	broad.mit.edu	37	13	24895697	24895697	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:24895697T>A	uc001upj.2	+	c.793T>A	c.(793-795)TCT>ACT	p.S265T	C1QTNF9_uc001upe.2_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	265	C1q.					collagen	hormone activity				0		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)										0.383333	127.823296	129.254397	46	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24895697	24895697	2037	13	T	A	A	A	754	58	C1QTNF9	3	3
WASF3	10810	broad.mit.edu	37	13	27256784	27256784	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:27256784G>T	uc001uqv.2	+	c.1024G>T	c.(1024-1026)GGA>TGA	p.G342*	WASF3_uc001uqw.2_Nonsense_Mutation_p.G339*	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	342					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)										0.435185	287.023127	287.81138	94	122	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27256784	27256784	17826	13	G	T	T	T	507	39	WASF3	5	1
GPR12	2835	broad.mit.edu	37	13	27332968	27332968	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:27332968C>A	uc010aal.2	-	c.997G>T	c.(997-999)GAT>TAT	p.D333Y	GPR12_uc010tdl.1_Missense_Mutation_p.D174Y	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	333	Cytoplasmic (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)										0.3125	13.369247	13.869966	5	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27332968	27332968	6909	13	C	A	A	A	377	29	GPR12	2	2
FRY	10129	broad.mit.edu	37	13	32811610	32811610	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:32811610A>T	uc001utx.2	+	c.5905A>T	c.(5905-5907)AAC>TAC	p.N1969Y	FRY_uc010tdw.1_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1969					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)	6		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)										0.9	125.529878	131.921772	36	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32811610	32811610	6313	13	A	T	T	T	65	5	FRY	3	3
N4BP2L2	10443	broad.mit.edu	37	13	33016677	33016677	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:33016677C>G	uc010abe.1	-	c.1997G>C	c.(1996-1998)AGA>ACA	p.R666T	N4BP2L2_uc001uug.2_Missense_Mutation_p.R549T|N4BP2L2_uc010abd.1_Missense_Mutation_p.R579T|N4BP2L2_uc001uuh.2_Missense_Mutation_p.R497T|N4BP2L2_uc001uuj.2_Missense_Mutation_p.R85T|N4BP2L2_uc010tdz.1_Missense_Mutation_p.R651T	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	Error:Variant_position_missing_in_Q92802_after_alignment					cell killing		ATP binding				0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)										0.485714	57.67418	57.680388	17	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33016677	33016677	10507	13	C	G	G	G	416	32	N4BP2L2	3	3
RFC3	5983	broad.mit.edu	37	13	34404010	34404010	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:34404010T>C	uc001uuz.2	+	c.429T>C	c.(427-429)GAT>GAC	p.D143D	RFC3_uc001uva.2_Silent_p.D143D|RFC3_uc010ted.1_Silent_p.D143D	NM_002915	NP_002906	P40938	RFC3_HUMAN	replication factor C 3 isoform 1	143					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding				0		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)										0.875	441.033946	461.899107	133	19	KEEP	---	---	---	---	capture		Silent	SNP	34404010	34404010	13717	13	T	C	C	C	660	51	RFC3	4	4
MAB21L1	4081	broad.mit.edu	37	13	36049420	36049420	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:36049420G>T	uc001uvc.2	-	c.856C>A	c.(856-858)CCC>ACC	p.P286T	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	286					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)										0.369048	78.610201	79.872247	31	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36049420	36049420	9518	13	G	T	T	T	533	41	MAB21L1	2	2
NAA16	79612	broad.mit.edu	37	13	41929322	41929322	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:41929322C>A	uc001uyf.2	+	c.1057C>A	c.(1057-1059)CTT>ATT	p.L353I	NAA16_uc010tfg.1_Non-coding_Transcript|NAA16_uc001uye.3_Missense_Mutation_p.L353I|NAA16_uc001uyd.3_3'UTR	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	NMDA receptor regulated 1-like protein isoform	353					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			central_nervous_system(1)	1														0.87931	337.11246	353.46511	102	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41929322	41929322	10514	13	C	A	A	A	416	32	NAA16	2	2
RB1	5925	broad.mit.edu	37	13	48941739	48941739	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:48941739G>T	uc001vcb.2	+	c.1049G>T	c.(1048-1050)AGT>ATT	p.S350I	RB1_uc010act.1_Missense_Mutation_p.S51I	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	350					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|transcription repressor activity|ubiquitin protein ligase binding			lung(93)|eye(89)|central_nervous_system(47)|bone(22)|breast(20)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|soft_tissue(8)|prostate(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	355		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)			6		568	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			0.721311	141.512044	144.194545	44	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48941739	48941739	13559	13	G	T	T	T	455	35	RB1	2	2
ATP7B	540	broad.mit.edu	37	13	52548913	52548913	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:52548913C>A	uc001vfw.2	-	c.443G>T	c.(442-444)CGG>CTG	p.R148L	ATP7B_uc010adv.2_Missense_Mutation_p.R148L|ATP7B_uc001vfx.2_Missense_Mutation_p.R148L|ATP7B_uc001vfy.2_Missense_Mutation_p.R148L|ATP7B_uc010tgt.1_Missense_Mutation_p.R148L|ATP7B_uc010tgu.1_Missense_Mutation_p.R148L|ATP7B_uc010tgv.1_Missense_Mutation_p.R148L|ATP7B_uc010tgw.1_Missense_Mutation_p.R116L	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	148	HMA 2.|Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										0.325581	38.641793	39.799047	14	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52548913	52548913	1210	13	C	A	A	A	299	23	ATP7B	1	1
PCDH8	5100	broad.mit.edu	37	13	53422150	53422150	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:53422150G>T	uc001vhi.2	-	c.422C>A	c.(421-423)CCG>CAG	p.P141Q	PCDH8_uc001vhj.2_Missense_Mutation_p.P141Q	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	141	Extracellular (Potential).|Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GBM(36;25 841 9273 49207)								0.333333	19.319885	19.835556	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53422150	53422150	11937	13	G	T	T	T	507	39	PCDH8	1	1
PCDH17	27253	broad.mit.edu	37	13	58207066	58207066	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58207066C>A	uc001vhq.1	+	c.386C>A	c.(385-387)GCG>GAG	p.A129E	PCDH17_uc010aec.1_Missense_Mutation_p.A129E	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	129	Extracellular (Potential).|Cadherin 1.				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)								0.457143	52.143864	52.192717	16	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58207066	58207066	11932	13	C	A	A	A	351	27	PCDH17	1	1
PCDH17	27253	broad.mit.edu	37	13	58207348	58207348	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58207348G>T	uc001vhq.1	+	c.668G>T	c.(667-669)CGT>CTT	p.R223L	PCDH17_uc010aec.1_Missense_Mutation_p.R223L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	223	Extracellular (Potential).|Cadherin 2.				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)								0.487805	61.499773	61.504605	20	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58207348	58207348	11932	13	G	T	T	T	520	40	PCDH17	1	1
PCDH17	27253	broad.mit.edu	37	13	58207777	58207777	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58207777C>T	uc001vhq.1	+	c.1097C>T	c.(1096-1098)CCT>CTT	p.P366L	PCDH17_uc010aec.1_Missense_Mutation_p.P366L	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	366	Extracellular (Potential).|Cadherin 4.				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)								0.428571	38.496378	38.620821	12	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58207777	58207777	11932	13	C	T	T	T	312	24	PCDH17	2	2
PCDH17	27253	broad.mit.edu	37	13	58298838	58298838	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:58298838G>T	uc001vhq.1	+	c.2890G>T	c.(2890-2892)GCT>TCT	p.A964S	PCDH17_uc010aec.1_Missense_Mutation_p.A963S|PCDH17_uc001vhr.1_Missense_Mutation_p.A53S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	964	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)								0.903846	154.353187	162.851796	47	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58298838	58298838	11932	13	G	T	T	T	546	42	PCDH17	2	2
TDRD3	81550	broad.mit.edu	37	13	61103100	61103100	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:61103100A>T	uc010aeg.2	+	c.1741A>T	c.(1741-1743)AAT>TAT	p.N581Y	TDRD3_uc010aef.2_Missense_Mutation_p.N313Y|TDRD3_uc001via.2_Missense_Mutation_p.N488Y|TDRD3_uc001vhz.3_Missense_Mutation_p.N488Y|TDRD3_uc001vib.3_Missense_Mutation_p.N487Y	NM_001146070	NP_001139542	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 1	488					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity				0		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		Colon(36;164 906 35820 50723)								0.477273	64.072466	64.092176	21	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61103100	61103100	16259	13	A	T	T	T	169	13	TDRD3	3	3
PCDH20	64881	broad.mit.edu	37	13	61987879	61987879	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:61987879G>T	uc001vid.3	-	c.353C>A	c.(352-354)TCC>TAC	p.S118Y	PCDH20_uc010thj.1_Missense_Mutation_p.S118Y	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	91	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)										0.371429	34.262548	34.772084	13	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61987879	61987879	11935	13	G	T	T	T	533	41	PCDH20	2	2
PCDH9	5101	broad.mit.edu	37	13	67205351	67205351	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:67205351G>T	uc001vik.2	-	c.3331C>A	c.(3331-3333)CCC>ACC	p.P1111T	PCDH9_uc010aei.2_Non-coding_Transcript|PCDH9_uc001vil.2_Missense_Mutation_p.P1077T|PCDH9_uc010thl.1_Missense_Mutation_p.P1069T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	1111	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)										0.371134	94.01634	95.452519	36	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67205351	67205351	11938	13	G	T	T	T	533	41	PCDH9	2	2
LMO7	4008	broad.mit.edu	37	13	76393660	76393660	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:76393660G>T	uc001vjv.2	+	c.1497G>T	c.(1495-1497)ATG>ATT	p.M499I	LMO7_uc010thv.1_Missense_Mutation_p.M450I|LMO7_uc001vjt.1_Missense_Mutation_p.M398I|LMO7_uc010thw.1_Missense_Mutation_p.M349I|LMO7_uc001vjw.1_Missense_Mutation_p.M405I	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	784						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)	2		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)										0.421053	194.676083	195.502303	64	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76393660	76393660	9184	13	G	T	T	T	598	46	LMO7	2	2
MYCBP2	23077	broad.mit.edu	37	13	77664259	77664259	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:77664259C>A	uc001vkf.2	-	c.10393G>T	c.(10393-10395)GTT>TTT	p.V3465F	MYCBP2_uc010aev.2_Missense_Mutation_p.V2869F|MYCBP2_uc001vke.2_Missense_Mutation_p.V85F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3465					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)										0.204651	105.098396	122.485191	44	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77664259	77664259	10413	13	C	A	A	A	260	20	MYCBP2	2	2
SLITRK1	114798	broad.mit.edu	37	13	84455387	84455387	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:84455387T>C	uc001vlk.2	-	c.256A>G	c.(256-258)AGT>GGT	p.S86G		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	86	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(2)|central_nervous_system(1)	3	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)										0.190476	45.740544	55.143538	20	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84455387	84455387	15240	13	T	C	C	C	689	53	SLITRK1	4	4
SLITRK1	114798	broad.mit.edu	37	13	84455389	84455389	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:84455389A>G	uc001vlk.2	-	c.254T>C	c.(253-255)GTT>GCT	p.V85A		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	85	Extracellular (Potential).|LRR 2.					integral to membrane				ovary(2)|central_nervous_system(1)	3	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)										0.205607	55.494305	64.090663	22	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84455389	84455389	15240	13	A	G	G	G	26	2	SLITRK1	4	4
SLITRK5	26050	broad.mit.edu	37	13	88329046	88329046	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:88329046G>T	uc001vln.2	+	c.1403G>T	c.(1402-1404)AGG>ATG	p.R468M	SLITRK5_uc010tic.1_Missense_Mutation_p.R227M	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	468	LRR 9.|Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)													0.322034	102.593979	105.920918	38	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88329046	88329046	15244	13	G	T	T	T	455	35	SLITRK5	2	2
GPC5	2262	broad.mit.edu	37	13	92345499	92345499	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:92345499T>G	uc010tif.1	+	c.384T>G	c.(382-384)AGT>AGG	p.S128R		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	128						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)	2	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)												0.193333	67.782382	80.963675	29	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92345499	92345499	6875	13	T	G	G	G	738	57	GPC5	4	4
GPC5	2262	broad.mit.edu	37	13	92346038	92346038	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:92346038G>C	uc010tif.1	+	c.923G>C	c.(922-924)GGA>GCA	p.G308A		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	308						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)	2	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)												0.106109	37.241189	85.086156	33	278	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92346038	92346038	6875	13	G	C	C	C	533	41	GPC5	3	3
GPC5	2262	broad.mit.edu	37	13	93518665	93518665	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:93518665G>A	uc010tif.1	+	c.1692G>A	c.(1690-1692)GTG>GTA	p.V564V		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	564						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)	2	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)												0.755224	854.926195	874.830861	253	82	KEEP	---	---	---	---	capture		Silent	SNP	93518665	93518665	6875	13	G	A	A	A	600	47	GPC5	2	2
ABCC4	10257	broad.mit.edu	37	13	95830321	95830321	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:95830321C>A	uc001vmd.3	-	c.1570G>T	c.(1570-1572)GAT>TAT	p.D524Y	ABCC4_uc010afk.2_Missense_Mutation_p.D524Y|ABCC4_uc001vme.2_Missense_Mutation_p.D524Y|ABCC4_uc010tih.1_Missense_Mutation_p.D449Y|ABCC4_uc001vmf.2_Missense_Mutation_p.D481Y|ABCC4_uc010afl.1_Missense_Mutation_p.D481Y|ABCC4_uc010afm.1_Missense_Mutation_p.D537Y	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	524	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)	3	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)					1222				0.152062	102.96097	147.938734	59	329	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95830321	95830321	56	13	C	A	A	A	377	29	ABCC4	2	2
GPR18	2841	broad.mit.edu	37	13	99907330	99907330	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99907330G>A	uc001voe.3	-	c.797C>T	c.(796-798)CCC>CTC	p.P266L	UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Missense_Mutation_p.P266L	NM_005292	NP_005283	Q14330	GPR18_HUMAN	G protein-coupled receptor 18	266	Extracellular (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)									0.164671	103.902781	139.597203	55	279	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99907330	99907330	6950	13	G	A	A	A	559	43	GPR18	2	2
C14orf73	91828	broad.mit.edu	37	14	103574772	103574772	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:103574772G>T	uc001ymk.2	+	c.1894G>T	c.(1894-1896)GTG>TTG	p.V632L		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	hypothetical protein LOC91828	632											0		Melanoma(154;0.155)	Epithelial(46;0.221)											0.346304	266.820117	272.169168	89	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103574772	103574772	1829	14	G	T	T	T	520	40	C14orf73	1	1
AHNAK2	113146	broad.mit.edu	37	14	105412494	105412494	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105412494C>A	uc010axc.1	-	c.9294G>T	c.(9292-9294)ACG>ACT	p.T3098T	AHNAK2_uc001ypx.2_Silent_p.T2998T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3098						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)											0.343284	64.105539	65.558657	23	44	KEEP	---	---	---	---	capture		Silent	SNP	105412494	105412494	418	14	C	A	A	A	288	23	AHNAK2	1	1
AHNAK2	113146	broad.mit.edu	37	14	105414042	105414042	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105414042C>A	uc010axc.1	-	c.7746G>T	c.(7744-7746)AAG>AAT	p.K2582N	AHNAK2_uc001ypx.2_Missense_Mutation_p.K2482N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2582						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)											0.333333	93.812158	96.323343	34	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105414042	105414042	418	14	C	A	A	A	311	24	AHNAK2	2	2
POTEG	404785	broad.mit.edu	37	14	19563531	19563531	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:19563531C>A	uc001vuz.1	+	c.1045C>A	c.(1045-1047)CAT>AAT	p.H349N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	349				H -> R (in Ref. 1; AAS58868/AAS58871).						ovary(1)	1														0.101362	53.312121	158.126048	67	594	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19563531	19563531	12696	14	C	A	A	A	377	29	POTEG	2	2
OR4Q3	441669	broad.mit.edu	37	14	20216351	20216351	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20216351C>T	uc010tkt.1	+	c.765C>T	c.(763-765)TGC>TGT	p.C255C		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.036193	-126.17966	47.851626	27	719	KEEP	---	---	---	---	capture		Silent	SNP	20216351	20216351	11491	14	C	T	T	T	350	27	OR4Q3	1	1
OR4M1	441670	broad.mit.edu	37	14	20248670	20248670	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20248670G>T	uc010tku.1	+	c.189G>T	c.(187-189)TTG>TTT	p.L63F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.187845	361.112265	443.680512	170	735	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20248670	20248670	11485	14	G	T	T	T	607	47	OR4M1	2	2
OR4M1	441670	broad.mit.edu	37	14	20248915	20248915	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20248915T>G	uc010tku.1	+	c.434T>G	c.(433-435)GTG>GGG	p.V145G		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.03949	-119.898166	60.294836	31	754	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20248915	20248915	11485	14	T	G	G	G	767	59	OR4M1	4	4
OR4M1	441670	broad.mit.edu	37	14	20249016	20249016	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20249016T>A	uc010tku.1	+	c.535T>A	c.(535-537)TGT>AGT	p.C179S		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.193009	281.847819	339.747579	127	531	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20249016	20249016	11485	14	T	A	A	A	715	55	OR4M1	3	3
OR4N2	390429	broad.mit.edu	37	14	20295925	20295925	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20295925C>T	uc010tkv.1	+	c.318C>T	c.(316-318)TTC>TTT	p.F106F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	106	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.135431	140.777907	235.013772	99	632	KEEP	---	---	---	---	capture		Silent	SNP	20295925	20295925	11487	14	C	T	T	T	389	30	OR4N2	2	2
OR4K15	81127	broad.mit.edu	37	14	20444296	20444296	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20444296C>A	uc010tkx.1	+	c.619C>A	c.(619-621)CTA>ATA	p.L207I		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	207	Extracellular (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;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)										0.479798	555.903326	556.04495	190	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20444296	20444296	11480	14	C	A	A	A	415	32	OR4K15	2	2
OR4K17	390436	broad.mit.edu	37	14	20585586	20585586	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20585586C>T	uc001vwo.1	+	c.21C>T	c.(19-21)CTC>CTT	p.L7L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	Error:Variant_position_missing_in_Q8NGC6_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)										0.068966	-8.702681	30.271722	14	189	KEEP	---	---	---	---	capture		Silent	SNP	20585586	20585586	11481	14	C	T	T	T	366	29	OR4K17	2	2
OR4N5	390437	broad.mit.edu	37	14	20612013	20612013	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20612013C>A	uc010tla.1	+	c.119C>A	c.(118-120)CCT>CAT	p.P40H		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	40	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;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)										0.532594	1212.44841	1213.117395	384	337	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20612013	20612013	11489	14	C	A	A	A	312	24	OR4N5	2	2
OR11G2	390439	broad.mit.edu	37	14	20665805	20665805	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20665805T>G	uc010tlb.1	+	c.311T>G	c.(310-312)TTC>TGC	p.F104C		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G,	104	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;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)										0.195122	91.011949	108.761882	40	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20665805	20665805	11331	14	T	G	G	G	806	62	OR11G2	4	4
OR11H6	122748	broad.mit.edu	37	14	20691979	20691979	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20691979T>C	uc010tlc.1	+	c.111T>C	c.(109-111)GGT>GGC	p.G37G		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H,	37	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)										0.118774	47.077701	84.298511	31	230	KEEP	---	---	---	---	capture		Silent	SNP	20691979	20691979	11335	14	T	C	C	C	743	58	OR11H6	4	4
TMEM55B	90809	broad.mit.edu	37	14	20926799	20926799	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20926799G>A	uc001vxk.2	-	c.774C>T	c.(772-774)ATC>ATT	p.I258I	TMEM55B_uc001vxl.2_Silent_p.I251I	NM_001100814	NP_001094284	Q86T03	TM55B_HUMAN	transmembrane protein 55B isoform 1	251	Helical; (Potential).					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)										0.528926	201.102528	201.190369	64	57	KEEP	---	---	---	---	capture		Silent	SNP	20926799	20926799	16721	14	G	A	A	A	525	41	TMEM55B	2	2
RNASE10	338879	broad.mit.edu	37	14	20978700	20978700	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20978700G>T	uc001vxp.2	+	c.154G>T	c.(154-156)GGG>TGG	p.G52W	RNASE10_uc010tlj.1_Missense_Mutation_p.G24W	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	24						extracellular region	nucleic acid binding|pancreatic ribonuclease activity				0	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)										0.597345	416.2174	418.081284	135	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20978700	20978700	13877	14	G	T	T	T	559	43	RNASE10	2	2
SLC39A2	29986	broad.mit.edu	37	14	21467673	21467673	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21467673G>T	uc001vyr.2	+	c.68G>T	c.(67-69)GGC>GTC	p.G23V	SLC39A2_uc001vys.2_5'UTR	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter),	23	Helical; (Potential).					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			ovary(2)|central_nervous_system(1)	3	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)										0.497778	342.79108	342.792038	112	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21467673	21467673	15115	14	G	T	T	T	546	42	SLC39A2	2	2
OR10G2	26534	broad.mit.edu	37	14	22102412	22102412	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:22102412T>C	uc010tmc.1	-	c.587A>G	c.(586-588)GAC>GGC	p.D196G		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	196	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)										0.210117	128.308621	148.303737	54	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22102412	22102412	11305	14	T	C	C	C	754	58	OR10G2	4	4
OR4E2	26686	broad.mit.edu	37	14	22134197	22134197	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:22134197C>G	uc010tmd.1	+	c.901C>G	c.(901-903)CTC>GTC	p.L301V		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)						64				0.366667	104.25417	105.65979	33	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22134197	22134197	11467	14	C	G	G	G	364	28	OR4E2	3	3
HOMEZ	57594	broad.mit.edu	37	14	23746319	23746319	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23746319C>A	uc001wjb.2	-	c.124G>T	c.(124-126)GGG>TGG	p.G42W	HOMEZ_uc001wja.2_Missense_Mutation_p.G40W	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	homeodomain leucine zipper protein	40					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)										0.435897	144.49787	144.917988	51	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23746319	23746319	7573	14	C	A	A	A	286	22	HOMEZ	2	2
CMTM5	116173	broad.mit.edu	37	14	23847948	23847948	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23847948C>A	uc010akm.2	+	c.350C>A	c.(349-351)CCC>CAC	p.P117H	CMTM5_uc001wjs.2_Intron|CMTM5_uc001wjt.2_Intron|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	chemokine-like factor superfamily 5 isoform a	117	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)										0.404762	48.664285	48.997894	17	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23847948	23847948	3724	14	C	A	A	A	274	22	CMTM5	2	2
MYH6	4624	broad.mit.edu	37	14	23851757	23851757	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23851757G>A	uc001wjv.2	-	c.5676C>T	c.(5674-5676)AAC>AAT	p.N1892N		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1892	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.237864	114.973457	127.905238	49	157	KEEP	---	---	---	---	capture		Silent	SNP	23851757	23851757	10433	14	G	A	A	A	620	48	MYH6	2	2
MYH6	4624	broad.mit.edu	37	14	23858206	23858206	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23858206C>G	uc001wjv.2	-	c.4037G>C	c.(4036-4038)CGG>CCG	p.R1346P	MIR208A_hsa-mir-208a|MI0000251_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1346	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)	3	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)										0.402597	91.529079	92.161124	31	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23858206	23858206	10433	14	C	G	G	G	299	23	MYH6	3	3
LRRC16B	90668	broad.mit.edu	37	14	24528179	24528179	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24528179T>G	uc001wlj.2	+	c.1555T>G	c.(1555-1557)TTC>GTC	p.F519V	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	519	LRR 10.									ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)								OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.317073	66.982318	69.444493	26	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24528179	24528179	9346	14	T	G	G	G	728	56	LRRC16B	4	4
LRRC16B	90668	broad.mit.edu	37	14	24528928	24528928	+	Silent	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24528928A>C	uc001wlj.2	+	c.1855A>C	c.(1855-1857)AGG>CGG	p.R619R	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	619										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)										0.275	28.416815	30.234964	11	29	KEEP	---	---	---	---	capture		Silent	SNP	24528928	24528928	9346	14	A	C	C	C	36	3	LRRC16B	4	4
ADCY4	196883	broad.mit.edu	37	14	24798698	24798698	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24798698C>A	uc001wov.2	-	c.1259G>T	c.(1258-1260)GGG>GTG	p.G420V	ADCY4_uc001wow.2_Missense_Mutation_p.G420V|ADCY4_uc010toh.1_Missense_Mutation_p.G106V|ADCY4_uc001wox.2_Missense_Mutation_p.G420V|ADCY4_uc001woy.2_Missense_Mutation_p.G420V	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	420	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				0.409091	75.501805	75.980669	27	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24798698	24798698	297	14	C	A	A	A	286	22	ADCY4	2	2
NFATC4	4776	broad.mit.edu	37	14	24842929	24842929	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24842929C>G	uc010tol.1	+	c.1777C>G	c.(1777-1779)CGG>GGG	p.R593G	NFATC4_uc010tok.1_Missense_Mutation_p.R593G|NFATC4_uc010alr.2_Missense_Mutation_p.R593G|NFATC4_uc010als.2_Missense_Mutation_p.R543G|NFATC4_uc010tom.1_Missense_Mutation_p.R543G|NFATC4_uc010ton.1_Missense_Mutation_p.R543G|NFATC4_uc010too.1_Missense_Mutation_p.R543G|NFATC4_uc010alt.2_Missense_Mutation_p.R562G|NFATC4_uc010top.1_Missense_Mutation_p.R562G|NFATC4_uc010toq.1_Missense_Mutation_p.R562G|NFATC4_uc010alu.2_Missense_Mutation_p.R222G|NFATC4_uc001wpc.2_Missense_Mutation_p.R530G|NFATC4_uc010tor.1_Missense_Mutation_p.R530G|NFATC4_uc010tos.1_Missense_Mutation_p.R460G|NFATC4_uc010tot.1_Missense_Mutation_p.R518G|NFATC4_uc010tou.1_Missense_Mutation_p.R460G|NFATC4_uc010tov.1_Missense_Mutation_p.R518G|NFATC4_uc010tow.1_Missense_Mutation_p.R460G|NFATC4_uc010alv.2_Missense_Mutation_p.R518G|NFATC4_uc010tox.1_Missense_Mutation_p.R460G|NFATC4_uc001wpd.2_Missense_Mutation_p.R65G|NFATC4_uc010toy.1_Missense_Mutation_p.R65G|NFATC4_uc010toz.1_Missense_Mutation_p.R65G|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	530	RHD.				cell differentiation|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(265;0.018)										0.253731	97.936287	105.279357	34	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24842929	24842929	10765	14	C	G	G	G	399	31	NFATC4	3	3
NYNRIN	57523	broad.mit.edu	37	14	24878083	24878083	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24878083G>T	uc001wpf.3	+	c.1083G>T	c.(1081-1083)CCG>CCT	p.P361P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	361					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.45679	119.1744	119.304817	37	44	KEEP	---	---	---	---	capture		Silent	SNP	24878083	24878083	11201	14	G	T	T	T	496	39	NYNRIN	1	1
NYNRIN	57523	broad.mit.edu	37	14	24879320	24879320	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24879320G>T	uc001wpf.3	+	c.2320G>T	c.(2320-2322)GCC>TCC	p.A774S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	hypothetical protein LOC57523	774					DNA integration	integral to membrane	DNA binding			ovary(2)|central_nervous_system(1)	3										473				0.199052	85.49261	103.158523	42	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24879320	24879320	11201	14	G	T	T	T	546	42	NYNRIN	2	2
FOXG1	2290	broad.mit.edu	37	14	29237250	29237250	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:29237250G>T	uc001wqe.2	+	c.765G>T	c.(763-765)TGG>TGT	p.W255C		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	255	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)										0.341463	71.373064	73.195125	28	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29237250	29237250	6252	14	G	T	T	T	533	41	FOXG1	2	2
FOXG1	2290	broad.mit.edu	37	14	29237821	29237821	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:29237821C>A	uc001wqe.2	+	c.1336C>A	c.(1336-1338)CAG>AAG	p.Q446K		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	446				Q -> P (in Ref. 1; CAA52239).|QAPST -> AGPPRP (in Ref. 1; CAA52240 and 2; CAA55038).	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)										0.363636	44.187488	44.907425	16	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29237821	29237821	6252	14	C	A	A	A	325	25	FOXG1	2	2
FOXG1	2290	broad.mit.edu	37	14	29237837	29237837	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:29237837T>A	uc001wqe.2	+	c.1352T>A	c.(1351-1353)CTG>CAG	p.L451Q		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	451					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)										0.357143	57.091086	58.094652	20	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29237837	29237837	6252	14	T	A	A	A	715	55	FOXG1	3	3
SLC25A21	89874	broad.mit.edu	37	14	37641526	37641526	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:37641526C>T	uc001wtz.1	-	c.30G>A	c.(28-30)GTG>GTA	p.V10V		NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial	10					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			skin(1)	1	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)										0.391304	25.869178	26.107394	9	14	KEEP	---	---	---	---	capture		Silent	SNP	37641526	37641526	14981	14	C	T	T	T	314	25	SLC25A21	2	2
FOXA1	3169	broad.mit.edu	37	14	38064152	38064152	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:38064152C>A	uc001wuf.2	-	c.26G>T	c.(25-27)GGG>GTG	p.G9V	FOXA1_uc010tpz.1_5'Flank	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	9					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)										0.346939	43.272191	44.279835	17	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38064152	38064152	6231	14	C	A	A	A	286	22	FOXA1	2	2
FAM179B	23116	broad.mit.edu	37	14	45475266	45475266	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45475266G>A	uc001wvw.2	+	c.2700G>A	c.(2698-2700)TCG>TCA	p.S900S	FAM179B_uc001wvv.2_Silent_p.S900S|FAM179B_uc010anc.2_Non-coding_Transcript|FAM179B_uc001wvu.2_Silent_p.S900S	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	900							binding				0														0.298667	301.255613	314.849896	112	263	KEEP	---	---	---	---	capture		Silent	SNP	45475266	45475266	5712	14	G	A	A	A	483	38	FAM179B	1	1
RPL10L	140801	broad.mit.edu	37	14	47120603	47120603	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47120603T>C	uc001wwg.2	-	c.337A>G	c.(337-339)ACA>GCA	p.T113A		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	113					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1														0.518182	186.472658	186.504319	57	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47120603	47120603	14035	14	T	C	C	C	754	58	RPL10L	4	4
MDGA2	161357	broad.mit.edu	37	14	47530529	47530529	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47530529G>A	uc001wwj.3	-	c.1241C>T	c.(1240-1242)ACG>ATG	p.T414M	MDGA2_uc001wwi.3_Missense_Mutation_p.T185M|MDGA2_uc010ani.2_De_novo_Start_OutOfFrame	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	414	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.219697	138.33972	157.421341	58	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47530529	47530529	9796	14	G	A	A	A	520	40	MDGA2	1	1
MDGA2	161357	broad.mit.edu	37	14	47600949	47600949	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47600949T>C	uc001wwj.3	-	c.686A>G	c.(685-687)AAG>AGG	p.K229R	MDGA2_uc001wwi.3_5'UTR|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	229	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.056604	-6.840594	15.051995	6	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47600949	47600949	9796	14	T	C	C	C	728	56	MDGA2	4	4
KLHDC1	122773	broad.mit.edu	37	14	50177066	50177066	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50177066G>T	uc001www.2	+	c.371G>T	c.(370-372)CGT>CTT	p.R124L	SDCCAG1_uc010anj.1_Intron|KLHDC1_uc010tqg.1_Missense_Mutation_p.R79L|KLHDC1_uc010tqh.1_Missense_Mutation_p.R67L	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	124	Kelch 2.					cytoplasm				pancreas(1)	1	all_epithelial(31;0.00244)|Breast(41;0.00964)													0.471311	377.813446	377.987405	115	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50177066	50177066	8666	14	G	T	T	T	520	40	KLHDC1	1	1
L2HGDH	79944	broad.mit.edu	37	14	50735895	50735895	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50735895C>A	uc001wxu.2	-	c.892G>T	c.(892-894)GGA>TGA	p.G298*	L2HGDH_uc010tqn.1_Nonsense_Mutation_p.G298*|L2HGDH_uc010tqo.1_Nonsense_Mutation_p.G298*	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase precursor	298					2-oxoglutarate metabolic process|cellular protein metabolic process|oxidation-reduction process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			ovary(2)	2	all_epithelial(31;0.000599)|Breast(41;0.0102)													0.455882	283.495262	283.833322	93	111	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	50735895	50735895	8913	14	C	A	A	A	312	24	L2HGDH	5	2
CDKL1	8814	broad.mit.edu	37	14	50845129	50845129	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:50845129G>A	uc010anu.1	-	c.1120C>T	c.(1120-1122)CGG>TGG	p.R374W	CDKL1_uc001wxz.2_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1	Error:Variant_position_missing_in_Q00532_after_alignment					protein phosphorylation	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1	all_epithelial(31;0.000746)|Breast(41;0.0102)									153				0.274725	63.149883	67.301008	25	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50845129	50845129	3282	14	G	A	A	A	508	40	CDKL1	1	1
TRIM9	114088	broad.mit.edu	37	14	51561429	51561429	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:51561429C>A	uc001wyy.2	-	c.229G>T	c.(229-231)GGC>TGC	p.G77C	TRIM9_uc001wyx.3_Missense_Mutation_p.G77C|TRIM9_uc001wyz.3_Missense_Mutation_p.G77C	NM_052978	NP_443210	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 2	77					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|skin(1)	2	all_epithelial(31;0.00418)|Breast(41;0.148)													0.55	36.627623	36.671271	11	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51561429	51561429	17099	14	C	A	A	A	299	23	TRIM9	1	1
C14orf166	51637	broad.mit.edu	37	14	52458077	52458077	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52458077A>G	uc010aod.2	+	c.104A>G	c.(103-105)CAG>CGG	p.Q35R		NM_016039	NP_057123	Q9Y224	CN166_HUMAN	homeobox prox 1	35						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding				0	Breast(41;0.0639)|all_epithelial(31;0.101)													0.044586	-22.402783	12.433728	7	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52458077	52458077	1804	14	A	G	G	G	91	7	C14orf166	4	4
NID2	22795	broad.mit.edu	37	14	52486851	52486851	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52486851C>T	uc001wzo.2	-	c.2720G>A	c.(2719-2721)TGC>TAC	p.C907Y	NID2_uc010tqs.1_Missense_Mutation_p.C859Y|NID2_uc010tqt.1_Missense_Mutation_p.C907Y|NID2_uc001wzp.2_Missense_Mutation_p.C907Y	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	907	EGF-like 5; calcium-binding (Potential).				bioluminescence|protein-chromophore linkage	basement membrane|membrane	calcium ion binding|collagen binding			breast(2)|pancreas(2)|ovary(1)|liver(1)	6	Breast(41;0.0639)|all_epithelial(31;0.123)													0.346341	189.850137	194.129265	71	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52486851	52486851	10816	14	C	T	T	T	325	25	NID2	2	2
NID2	22795	broad.mit.edu	37	14	52520549	52520549	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52520549T>G	uc001wzo.2	-	c.1177A>C	c.(1177-1179)AGC>CGC	p.S393R	NID2_uc010tqs.1_Missense_Mutation_p.S393R|NID2_uc010tqt.1_Missense_Mutation_p.S393R|NID2_uc001wzp.2_Missense_Mutation_p.S393R	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	393					bioluminescence|protein-chromophore linkage	basement membrane|membrane	calcium ion binding|collagen binding			breast(2)|pancreas(2)|ovary(1)|liver(1)	6	Breast(41;0.0639)|all_epithelial(31;0.123)													0.06391	-17.745862	34.888222	17	249	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52520549	52520549	10816	14	T	G	G	G	728	56	NID2	4	4
GCH1	2643	broad.mit.edu	37	14	55310842	55310842	+	Missense_Mutation	SNP	G	C	C	rs41298440		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:55310842G>C	uc001xbh.1	-	c.646C>G	c.(646-648)CGA>GGA	p.R216G	GCH1_uc001xbi.1_Missense_Mutation_p.R216G|GCH1_uc001xbj.1_Intron|GCH1_uc001xbk.1_Intron|GCH1_uc010aol.1_Intron	NM_001024024	NP_001019195	P30793	GCH1_HUMAN	GTP cyclohydrolase 1 isoform 1	216					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding				0						Pancreas(198;1245 2204 4807 21567 38372)								0.231806	237.501689	261.912094	86	285	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55310842	55310842	6557	14	G	C	C	C	493	38	GCH1	3	3
ARID4A	5926	broad.mit.edu	37	14	58817917	58817917	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:58817917G>T	uc001xdp.2	+	c.1531G>T	c.(1531-1533)GAG>TAG	p.E511*	ARID4A_uc001xdo.2_Nonsense_Mutation_p.E511*|ARID4A_uc001xdq.2_Nonsense_Mutation_p.E511*|ARID4A_uc010apg.1_Nonsense_Mutation_p.E189*	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	511					chromatin assembly or disassembly|negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromatin|transcriptional repressor complex	chromatin binding|DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			ovary(3)|lung(1)	4														0.208511	103.373305	121.851553	49	186	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	58817917	58817917	934	14	G	T	T	T	429	33	ARID4A	5	2
DHRS7	51635	broad.mit.edu	37	14	60619815	60619815	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:60619815T>C	uc001xeu.2	-	c.475A>G	c.(475-477)ATA>GTA	p.I159V	C14orf135_uc001xeq.2_Intron|DHRS7_uc001xes.2_Missense_Mutation_p.I159V|DHRS7_uc001xet.2_Missense_Mutation_p.I109V	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	159					oxidation-reduction process		binding|oxidoreductase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.121)										0.251121	157.395704	169.943701	56	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60619815	60619815	4674	14	T	C	C	C	676	52	DHRS7	4	4
SLC38A6	145389	broad.mit.edu	37	14	61512086	61512086	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:61512086T>G	uc001xfh.1	+	c.767T>G	c.(766-768)ATG>AGG	p.M256R	SLC38A6_uc001xfg.1_Missense_Mutation_p.M256R|SLC38A6_uc001xfi.2_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.2_Non-coding_Transcript|SLC38A6_uc010trz.1_Missense_Mutation_p.M233R	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	256	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0981)										0.533333	142.708103	142.780859	40	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61512086	61512086	15105	14	T	G	G	G	663	51	SLC38A6	4	4
SLC38A6	145389	broad.mit.edu	37	14	61518588	61518588	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:61518588T>A	uc001xfh.1	+	c.1134T>A	c.(1132-1134)AAT>AAA	p.N378K	SLC38A6_uc001xfg.1_Missense_Mutation_p.N378K|SLC38A6_uc001xfi.2_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.2_Non-coding_Transcript|SLC38A6_uc010trz.1_Missense_Mutation_p.N355K	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	378	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0981)										0.265625	89.995453	96.346944	34	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61518588	61518588	15105	14	T	A	A	A	634	49	SLC38A6	3	3
SNAPC1	6617	broad.mit.edu	37	14	62229216	62229216	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:62229216C>T	uc001xft.2	+	c.38C>T	c.(37-39)GCG>GTG	p.A13V		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex,	13	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		NSCLC(27;223 907 37180 39193 46568)								0.265487	128.997546	140.243376	60	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62229216	62229216	15334	14	C	T	T	T	351	27	SNAPC1	1	1
SYT16	83851	broad.mit.edu	37	14	62463151	62463151	+	Silent	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:62463151T>G	uc001xfu.1	+	c.414T>G	c.(412-414)TCT>TCG	p.S138S	SYT16_uc010tsd.1_Silent_p.S138S	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	138										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)										0.271449	474.626982	508.146485	193	518	KEEP	---	---	---	---	capture		Silent	SNP	62463151	62463151	15993	14	T	G	G	G	717	56	SYT16	4	4
KCNH5	27133	broad.mit.edu	37	14	63416862	63416862	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:63416862A>T	uc001xfx.2	-	c.1358T>A	c.(1357-1359)ATG>AAG	p.M453K	KCNH5_uc001xfy.2_Missense_Mutation_p.M453K|KCNH5_uc001xfz.1_Missense_Mutation_p.M395K|KCNH5_uc001xga.2_Missense_Mutation_p.M395K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	453	Helical; Name=Segment S6; (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)										0.230483	165.416648	183.319736	62	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63416862	63416862	8340	14	A	T	T	T	104	8	KCNH5	3	3
SYNE2	23224	broad.mit.edu	37	14	64476712	64476712	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64476712C>A	uc001xgl.2	+	c.4606C>A	c.(4606-4608)CTC>ATC	p.L1536I	SYNE2_uc001xgm.2_Missense_Mutation_p.L1536I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1536	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)										0.075758	-2.559349	21.799822	10	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64476712	64476712	15967	14	C	A	A	A	364	28	SYNE2	2	2
ESR2	2100	broad.mit.edu	37	14	64727411	64727411	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:64727411G>T	uc001xha.1	-	c.708C>A	c.(706-708)GAC>GAA	p.D236E	ESR2_uc001xgu.2_Missense_Mutation_p.D236E|ESR2_uc001xgv.2_Missense_Mutation_p.D236E|ESR2_uc001xgw.2_Non-coding_Transcript|ESR2_uc001xgx.2_Missense_Mutation_p.D236E|ESR2_uc001xgy.1_Missense_Mutation_p.D236E|ESR2_uc001xgz.1_Missense_Mutation_p.D236E|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.D236E|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	236	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)					196				0.465116	126.839248	126.924295	40	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64727411	64727411	5450	14	G	T	T	T	516	40	ESR2	1	1
PLEKHH1	57475	broad.mit.edu	37	14	68046582	68046582	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:68046582G>A	uc001xjl.1	+	c.3172G>A	c.(3172-3174)GGA>AGA	p.G1058R	PLEKHH1_uc010tsw.1_Missense_Mutation_p.G626R|PLEKHH1_uc001xjn.1_Missense_Mutation_p.G573R|PLEKHH1_uc010tsx.1_5'UTR|PLEKHH1_uc001xjo.1_5'Flank|PLEKHH1_uc001xjp.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	1058	FERM.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)										0.294118	14.369432	15.013627	5	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68046582	68046582	12502	14	G	A	A	A	559	43	PLEKHH1	2	2
SIPA1L1	26037	broad.mit.edu	37	14	72165840	72165840	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:72165840G>T	uc001xms.2	+	c.3517G>T	c.(3517-3519)GAA>TAA	p.E1173*	SIPA1L1_uc001xmt.2_Nonsense_Mutation_p.E1173*|SIPA1L1_uc001xmu.2_Nonsense_Mutation_p.E1173*|SIPA1L1_uc001xmv.2_Nonsense_Mutation_p.E1173*|SIPA1L1_uc010ttm.1_Nonsense_Mutation_p.E648*	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1173					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)										0.266055	148.053439	158.833216	58	160	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72165840	72165840	14824	14	G	T	T	T	481	37	SIPA1L1	5	1
ZFYVE1	53349	broad.mit.edu	37	14	73448514	73448514	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:73448514G>A	uc001xnm.2	-	c.1293C>T	c.(1291-1293)TCC>TCT	p.S431S	ZFYVE1_uc001xnl.2_Silent_p.S16S|ZFYVE1_uc010arj.2_Silent_p.S431S	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1 isoform 1	431						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding				0		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)										0.387435	232.204227	234.325751	74	117	KEEP	---	---	---	---	capture		Silent	SNP	73448514	73448514	18253	14	G	A	A	A	444	35	ZFYVE1	2	2
LTBP2	4053	broad.mit.edu	37	14	74969991	74969991	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:74969991T>G	uc001xqa.2	-	c.4819A>C	c.(4819-4821)ACG>CCG	p.T1607P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1607	TB 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)										0.274194	46.045169	48.895993	17	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74969991	74969991	9450	14	T	G	G	G	767	59	LTBP2	4	4
KIAA0317	9870	broad.mit.edu	37	14	75130730	75130730	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75130730C>A	uc001xqb.2	-	c.2241G>T	c.(2239-2241)GAG>GAT	p.E747D	KIAA0317_uc010tut.1_Missense_Mutation_p.E586D	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	747	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)										0.333333	47.720382	48.99424	17	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75130730	75130730	8474	14	C	A	A	A	259	20	KIAA0317	2	2
PROX2	283571	broad.mit.edu	37	14	75329253	75329253	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75329253G>T	uc001xqr.1	-	c.1285C>A	c.(1285-1287)CTG>ATG	p.L429M	PROX2_uc001xqq.1_Intron	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	429					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)										0.452381	232.589195	232.919297	76	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75329253	75329253	13004	14	G	T	T	T	464	36	PROX2	2	2
ESRRB	2103	broad.mit.edu	37	14	76949017	76949017	+	Missense_Mutation	SNP	G	T	T	rs79273904	byFrequency;by1000genomes	TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:76949017G>T	uc001xsr.2	+	c.702G>T	c.(700-702)GAG>GAT	p.E234D	ESRRB_uc001xso.2_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.E234D	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	234					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0213)										0.551136	294.935559	295.330504	97	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76949017	76949017	5454	14	G	T	T	T	451	35	ESRRB	2	2
ZDHHC22	283576	broad.mit.edu	37	14	77605928	77605928	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:77605928C>A	uc010asp.2	-	c.154G>T	c.(154-156)GCG>TCG	p.A52S		NM_174976	NP_777636	Q8N966	ZDH22_HUMAN	zinc finger, DHHC domain containing 22	52	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)								OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.55	34.430507	34.474917	11	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77605928	77605928	18201	14	C	A	A	A	338	26	ZDHHC22	2	2
DIO2	1734	broad.mit.edu	37	14	80669222	80669222	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:80669222A>T	uc010tvp.1	-	c.740T>A	c.(739-741)GTG>GAG	p.V247E	DIO2_uc001xut.2_Non-coding_Transcript|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvq.1_Missense_Mutation_p.V211E|DIO2_uc010tvr.1_Missense_Mutation_p.V211E|DIO2_uc010asy.2_3'UTR	NM_001007023	NP_001007024	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II isoform b	211					hormone biosynthetic process|oxidation-reduction process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding				0				BRCA - Breast invasive adenocarcinoma(234;0.0281)								OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.442396	291.067816	291.693533	96	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80669222	80669222	4704	14	A	T	T	T	78	6	DIO2	3	3
TSHR	7253	broad.mit.edu	37	14	81606050	81606051	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81606050_81606051CC>AG	uc001xvd.1	+	c.720_721CC>AG	c.(718-723)GCCCTT>GCAGTT	p.L241V		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	241	Extracellular (Potential).|LRR 6.				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)	298				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)					868				0.479592	297.347403	297.416482	94	102	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	81606050	81606051	17173	14	CC	AG	AG	AG	275	22	TSHR	2	2
FLRT2	23768	broad.mit.edu	37	14	86088361	86088361	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:86088361A>G	uc001xvr.2	+	c.503A>G	c.(502-504)AAG>AGG	p.K168R	FLRT2_uc010atd.2_Missense_Mutation_p.K168R	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	168	Extracellular (Potential).|LRR 5.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(234;0.0319)										0.076271	0.979072	22.684058	9	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86088361	86088361	6181	14	A	G	G	G	39	3	FLRT2	4	4
GPR65	8477	broad.mit.edu	37	14	88478017	88478017	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:88478017G>A	uc001xvv.2	+	c.826G>A	c.(826-828)GTT>ATT	p.V276I		NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	276	Helical; Name=7; (Potential).				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity				0														0.32381	88.998148	91.899883	34	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88478017	88478017	6981	14	G	A	A	A	572	44	GPR65	2	2
KCNK10	54207	broad.mit.edu	37	14	88729606	88729606	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:88729606C>A	uc001xwm.2	-	c.342G>T	c.(340-342)AAG>AAT	p.K114N	KCNK10_uc001xwn.2_Missense_Mutation_p.K114N|KCNK10_uc001xwo.2_Missense_Mutation_p.K109N	NM_138318	NP_612191	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	109					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|pancreas(1)	3														0.345912	151.359423	154.700333	55	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88729606	88729606	8364	14	C	A	A	A	311	24	KCNK10	2	2
SPATA7	55812	broad.mit.edu	37	14	88883135	88883135	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:88883135A>G	uc001xwq.2	+	c.319A>G	c.(319-321)ATG>GTG	p.M107V	SPATA7_uc001xwr.2_Missense_Mutation_p.M75V|SPATA7_uc001xws.2_Missense_Mutation_p.M43V|SPATA7_uc001xwt.2_Missense_Mutation_p.M1V	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	107					response to stimulus|visual perception					ovary(1)	1														0.066176	-6.732126	19.813923	9	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88883135	88883135	15524	14	A	G	G	G	52	4	SPATA7	4	4
CCDC88C	440193	broad.mit.edu	37	14	91804492	91804492	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:91804492C>A	uc010aty.2	-	c.907G>T	c.(907-909)GCA>TCA	p.A303S		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	303	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)												0.350877	52.979608	54.099173	20	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91804492	91804492	2990	14	C	A	A	A	338	26	CCDC88C	2	2
SMEK1	55671	broad.mit.edu	37	14	91948454	91948454	+	Silent	SNP	C	A	A	rs61757451	by1000genomes	TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:91948454C>A	uc001xzn.2	-	c.381G>T	c.(379-381)TCG>TCT	p.S127S	SMEK1_uc001xzm.2_Silent_p.S127S|SMEK1_uc001xzo.2_Silent_p.S127S|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_Non-coding_Transcript|SMEK1_uc001xzq.1_Silent_p.S3S	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	127						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)										0.265487	83.920917	89.522315	30	83	KEEP	---	---	---	---	capture		Silent	SNP	91948454	91948454	15291	14	C	A	A	A	340	27	SMEK1	1	1
CATSPERB	79820	broad.mit.edu	37	14	92139240	92139240	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:92139240C>A	uc001xzs.1	-	c.1099G>T	c.(1099-1101)GGT>TGT	p.G367C	CATSPERB_uc010aub.1_5'Flank	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	367					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|ovary(1)	3		all_cancers(154;0.0663)|all_epithelial(191;0.236)								637				0.521303	662.209926	662.367139	208	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92139240	92139240	2810	14	C	A	A	A	273	21	CATSPERB	2	2
GOLGA5	9950	broad.mit.edu	37	14	93263812	93263812	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:93263812G>A	uc001yaz.1	+	c.30G>A	c.(28-30)AAG>AAA	p.K10K		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	10	Cytoplasmic (Potential).				Golgi organization|protein phosphorylation	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)						351				0.366667	69.150968	70.08193	22	38	KEEP	---	---	---	---	capture		Silent	SNP	93263812	93263812	6825	14	G	A	A	A	451	35	GOLGA5	2	2
GOLGA5	9950	broad.mit.edu	37	14	93299644	93299644	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:93299644A>G	uc001yaz.1	+	c.1897A>G	c.(1897-1899)AGT>GGT	p.S633G	GOLGA5_uc001yba.1_Missense_Mutation_p.S30G	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	633	Cytoplasmic (Potential).				Golgi organization|protein phosphorylation	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)						351				0.347087	441.417368	449.913568	143	269	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93299644	93299644	6825	14	A	G	G	G	195	15	GOLGA5	4	4
GOLGA5	9950	broad.mit.edu	37	14	93305735	93305735	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:93305735A>G	uc001yaz.1	+	c.2140A>G	c.(2140-2142)ATT>GTT	p.I714V	GOLGA5_uc001yba.1_Nonstop_Mutation_p.*89W	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	714	Helical; Anchor for type IV membrane protein; (Potential).				Golgi organization|protein phosphorylation	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)						351				0.218543	84.094685	95.117326	33	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	93305735	93305735	6825	14	A	G	G	G	156	12	GOLGA5	4	4
COX8C	341947	broad.mit.edu	37	14	93813686	93813686	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:93813686C>G	uc001ybt.1	+	c.72C>G	c.(70-72)CCC>CCG	p.P24P	KIAA1409_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIc	24						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity				0		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		GBM(134;630 1800 8342 13106 15419)								0.384615	14.374248	14.525096	5	8	KEEP	---	---	---	---	capture		Silent	SNP	93813686	93813686	3924	14	C	G	G	G	288	23	COX8C	3	3
KIAA1409	57578	broad.mit.edu	37	14	94088850	94088850	+	Silent	SNP	C	A	A	rs7160631	byFrequency;by1000genomes	TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94088850C>A	uc001ybv.1	+	c.4806C>A	c.(4804-4806)CCC>CCA	p.P1602P	KIAA1409_uc001ybs.1_Silent_p.P1580P	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1757						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)					p.P1602P(JM1-Tumor)|p.P1602P(L3.3-Tumor)|p.P1602P(KG1-Tumor)|p.P1602P(NALM1-Tumor)|p.P1602P(NCIH810-Tumor)	1186				0.589041	721.619825	724.168458	215	150	KEEP	---	---	---	---	capture		Silent	SNP	94088850	94088850	8539	14	C	A	A	A	288	23	KIAA1409	1	1
KIAA1409	57578	broad.mit.edu	37	14	94120360	94120360	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94120360C>A	uc001ybv.1	+	c.5923C>A	c.(5923-5925)CAG>AAG	p.Q1975K	KIAA1409_uc001ybs.1_Missense_Mutation_p.Q1953K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2130						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.353116	340.316501	346.731266	119	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94120360	94120360	8539	14	C	A	A	A	377	29	KIAA1409	2	2
PAPOLA	10914	broad.mit.edu	37	14	96998700	96998700	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:96998700G>C	uc001yfq.2	+	c.640G>C	c.(640-642)GTA>CTA	p.V214L	PAPOLA_uc001yfp.2_Missense_Mutation_p.V214L|PAPOLA_uc001yfr.2_Missense_Mutation_p.V214L|PAPOLA_uc010twv.1_Missense_Mutation_p.V214L|PAPOLA_uc010avp.2_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	214				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding				0		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		NSCLC(19;254 734 11908 35501 39234)								0.206897	44.600148	51.52757	18	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96998700	96998700	11846	14	G	C	C	C	468	36	PAPOLA	3	3
MEF2A	4205	broad.mit.edu	37	15	100230591	100230591	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:100230591A>T	uc010urw.1	+	c.822A>T	c.(820-822)CGA>CGT	p.R274R	MEF2A_uc010urv.1_Silent_p.R204R|MEF2A_uc010bos.2_Silent_p.R272R|MEF2A_uc002bvf.2_Silent_p.R274R|MEF2A_uc002bve.2_Silent_p.R272R|MEF2A_uc002bvg.2_Silent_p.R272R|MEF2A_uc002bvi.2_Silent_p.R272R|MEF2A_uc010bot.2_Silent_p.R204R	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A isoform 1	274	Required for interaction with MAPKs.				apoptosis|innate immune response|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|nervous system development|positive regulation of muscle cell differentiation|regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear chromatin|nucleoplasm	sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)							195				0.595506	168.283501	168.991653	53	36	KEEP	---	---	---	---	capture		Silent	SNP	100230591	100230591	9844	15	A	T	T	T	132	11	MEF2A	3	3
ADAMTS17	170691	broad.mit.edu	37	15	100537704	100537704	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:100537704G>C	uc002bvv.1	-	c.2682C>G	c.(2680-2682)AAC>AAG	p.N894K		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	894	TSP type-1 3.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)										0.518519	42.726952	42.734179	14	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100537704	100537704	263	15	G	C	C	C	516	40	ADAMTS17	3	3
LRRK1	79705	broad.mit.edu	37	15	101598268	101598268	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:101598268G>T	uc002bwr.2	+	c.4601G>T	c.(4600-4602)TGT>TTT	p.C1534F	LRRK1_uc010usb.1_Non-coding_Transcript|LRRK1_uc010usc.1_Non-coding_Transcript|LRRK1_uc002bws.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1534					protein phosphorylation|small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)							1100				0.617391	237.648943	239.037865	71	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101598268	101598268	9408	15	G	T	T	T	624	48	LRRK1	2	2
OR4N4	283694	broad.mit.edu	37	15	22383138	22383138	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:22383138C>A	uc001yuc.1	+	c.666C>A	c.(664-666)CTC>CTA	p.L222L	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.L222L	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	222	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)										0.410569	282.307487	284.030406	101	145	KEEP	---	---	---	---	capture		Silent	SNP	22383138	22383138	11488	15	C	A	A	A	405	32	OR4N4	2	2
C15orf2	23742	broad.mit.edu	37	15	24921603	24921603	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24921603G>T	uc001ywo.2	+	c.589G>T	c.(589-591)GAC>TAC	p.D197Y		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	197					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|kidney(1)|central_nervous_system(1)	6		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)						443				0.434783	84.235335	84.491677	30	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24921603	24921603	1834	15	G	T	T	T	429	33	C15orf2	2	2
UBE3A	7337	broad.mit.edu	37	15	25601070	25601071	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:25601070_25601071TC>AT	uc001zaq.2	-	c.2101_2102GA>AT	c.(2101-2103)GAT>ATT	p.D701I	UBE3A_uc001zar.2_Missense_Mutation_p.D678I|UBE3A_uc001zas.2_Missense_Mutation_p.D698I|UBE3A_uc001zat.2_Missense_Mutation_p.D678I	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	701					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity				0		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)										0.375	63.962219	64.729995	21	35	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	25601070	25601071	17437	15	TC	AT	AT	AT	650	50	UBE3A	3	3
GABRB3	2562	broad.mit.edu	37	15	26793083	26793083	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:26793083G>T	uc001zbb.2	-	c.1447C>A	c.(1447-1449)CAT>AAT	p.H483N	GABRB3_uc010uae.1_Missense_Mutation_p.H342N|GABRB3_uc001zaz.2_Missense_Mutation_p.H427N|GABRB3_uc001zba.2_Missense_Mutation_p.H427N	NM_021912	NP_068712	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	427	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(1)|lung(1)|liver(1)|central_nervous_system(1)	4		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.964706	290.560116	295.476772	82	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26793083	26793083	6419	15	G	T	T	T	611	47	GABRB3	2	2
GABRB3	2562	broad.mit.edu	37	15	26866646	26866647	+	Missense_Mutation	DNP	CC	GA	GA			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:26866646_26866647CC>GA	uc001zbb.2	-	c.443_444GG>TC	c.(442-444)TGG>TTC	p.W148F	GABRB3_uc010uae.1_Missense_Mutation_p.W7F|GABRB3_uc001zaz.2_Missense_Mutation_p.W92F|GABRB3_uc001zba.2_Missense_Mutation_p.W92F|GABRB3_uc001zbc.2_Non-coding_Transcript	NM_021912	NP_068712	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	92	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	4		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.426829	111.96498	112.355898	35	47	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	26866646	26866647	6419	15	CC	GA	GA	GA	390	30	GABRB3	3	3
OCA2	4948	broad.mit.edu	37	15	28211920	28211920	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28211920G>A	uc001zbh.3	-	c.1552C>T	c.(1552-1554)CTT>TTT	p.L518F	OCA2_uc010ayv.2_Missense_Mutation_p.L494F	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	518	Helical; (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)										0.414634	55.170426	55.430595	17	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28211920	28211920	11220	15	G	A	A	A	455	35	OCA2	2	2
HERC2	8924	broad.mit.edu	37	15	28520107	28520107	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28520107C>A	uc001zbj.2	-	c.587G>T	c.(586-588)GGA>GTA	p.G196V	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	196					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)						1580				0.434783	51.169631	51.343689	20	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28520107	28520107	7341	15	C	A	A	A	390	30	HERC2	2	2
TRPM1	4308	broad.mit.edu	37	15	31342759	31342759	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31342759C>T	uc001zfm.2	-	c.1224G>A	c.(1222-1224)ACG>ACA	p.T408T	TRPM1_uc010azy.2_Silent_p.T315T|TRPM1_uc001zfl.2_Non-coding_Transcript	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	408	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)										0.137931	17.449377	28.475605	12	75	KEEP	---	---	---	---	capture		Silent	SNP	31342759	31342759	17136	15	C	T	T	T	288	23	TRPM1	1	1
RYR3	6263	broad.mit.edu	37	15	33954739	33954739	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33954739C>A	uc001zhi.2	+	c.5008C>A	c.(5008-5010)CCT>ACT	p.P1670T	RYR3_uc010bar.2_Missense_Mutation_p.P1670T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1670	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)										0.428571	97.990659	98.325995	33	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33954739	33954739	14250	15	C	A	A	A	286	22	RYR3	2	2
RYR3	6263	broad.mit.edu	37	15	34123242	34123242	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34123242G>A	uc001zhi.2	+	c.11413G>A	c.(11413-11415)GCT>ACT	p.A3805T	RYR3_uc010bar.2_Missense_Mutation_p.A3800T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3805					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)										0.844828	167.010468	173.599355	49	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34123242	34123242	14250	15	G	A	A	A	442	34	RYR3	2	2
C15orf55	256646	broad.mit.edu	37	15	34640339	34640339	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:34640339G>A	uc010ucc.1	+	c.270G>A	c.(268-270)ATG>ATA	p.M90I	C15orf55_uc010ucd.1_Missense_Mutation_p.M80I|C15orf55_uc001zif.2_Missense_Mutation_p.M62I	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	62	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)						408				0.450704	270.171175	270.620308	96	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34640339	34640339	1853	15	G	A	A	A	598	46	C15orf55	2	2
ACTC1	70	broad.mit.edu	37	15	35082644	35082644	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35082644C>T	uc001ziu.1	-	c.1103G>A	c.(1102-1104)GGC>GAC	p.G368D		NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	368					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			ovary(1)	1		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)										0.919643	328.988236	348.390148	103	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35082644	35082644	196	15	C	T	T	T	338	26	ACTC1	2	2
PLCB2	5330	broad.mit.edu	37	15	40591413	40591414	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40591413_40591414GG>TT	uc001zld.2	-	c.598_599CC>AA	c.(598-600)CCT>AAT	p.P200N	PLCB2_uc010bbo.2_Missense_Mutation_p.P200N|PLCB2_uc010ucm.1_Missense_Mutation_p.P200N	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	200					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(3)|breast(3)|kidney(1)|pancreas(1)	8		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)						1073				0.823529	192.617349	199.314167	56	12	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	40591413	40591414	12454	15	GG	TT	TT	TT	455	35	PLCB2	2	2
C15orf52	388115	broad.mit.edu	37	15	40630806	40630806	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40630806C>A	uc001zlh.3	-	c.575G>T	c.(574-576)GGG>GTG	p.G192V	C15orf52_uc001zli.1_Missense_Mutation_p.G124V|C15orf52_uc010ucn.1_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	192										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)								OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.39726	78.977942	79.644921	29	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40630806	40630806	1850	15	C	A	A	A	286	22	C15orf52	2	2
IVD	3712	broad.mit.edu	37	15	40699843	40699843	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40699843C>A	uc001zls.3	+	c.160C>A	c.(160-162)CAG>AAG	p.Q54K	IVD_uc001zlq.2_Intron	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	51					leucine catabolic process|oxidation-reduction process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GBM(31;293 617 7486 32527 34655)								0.378788	72.357367	73.208802	25	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40699843	40699843	8232	15	C	A	A	A	377	29	IVD	2	2
BAHD1	22893	broad.mit.edu	37	15	40757559	40757559	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:40757559C>G	uc001zlu.2	+	c.2078C>G	c.(2077-2079)TCG>TGG	p.S693W	BAHD1_uc001zlt.2_Missense_Mutation_p.S692W|BAHD1_uc010bbp.1_Missense_Mutation_p.S689W|BAHD1_uc001zlv.2_Missense_Mutation_p.S690W	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	693	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)										0.2	28.697366	33.297781	11	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40757559	40757559	1318	15	C	G	G	G	403	31	BAHD1	3	3
ZFYVE19	84936	broad.mit.edu	37	15	41102329	41102329	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41102329A>C	uc001zmt.1	+	c.632A>C	c.(631-633)CAG>CCG	p.Q211P	DNAJC17_uc001zms.1_5'Flank|DNAJC17_uc010bbz.1_5'Flank|DNAJC17_uc010bca.1_5'Flank|DNAJC17_uc010bcb.1_5'Flank|ZFYVE19_uc001zmu.1_Missense_Mutation_p.Q211P|ZFYVE19_uc001zmv.1_Missense_Mutation_p.Q36P|ZFYVE19_uc001zmw.1_Missense_Mutation_p.Q36P|ZFYVE19_uc001zmx.1_Missense_Mutation_p.Q36P|ZFYVE19_uc010bcc.1_Missense_Mutation_p.Q36P	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	211							zinc ion binding				0		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)										0.511111	65.81439	65.818979	23	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41102329	41102329	18255	15	A	C	C	C	91	7	ZFYVE19	4	4
NUSAP1	51203	broad.mit.edu	37	15	41657777	41657777	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:41657777A>G	uc001zns.3	+	c.838A>G	c.(838-840)ACG>GCG	p.T280A	NUSAP1_uc001znq.3_Missense_Mutation_p.T85A|NUSAP1_uc001znr.3_Missense_Mutation_p.T279A|NUSAP1_uc010bce.2_Missense_Mutation_p.T280A|NUSAP1_uc001znt.3_Missense_Mutation_p.T265A|NUSAP1_uc001znv.3_Missense_Mutation_p.T278A|NUSAP1_uc001znu.3_Missense_Mutation_p.T279A|NUSAP1_uc010ucw.1_Missense_Mutation_p.T256A|NUSAP1_uc001znw.3_Missense_Mutation_p.T84A	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	280	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding				0		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)										0.857143	44.611275	46.332434	12	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41657777	41657777	11183	15	A	G	G	G	26	2	NUSAP1	4	4
TGM5	9333	broad.mit.edu	37	15	43533162	43533162	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:43533162G>C	uc001zrd.1	-	c.889C>G	c.(889-891)CGT>GGT	p.R297G	TGM5_uc001zrc.1_5'Flank|TGM5_uc001zre.1_Missense_Mutation_p.R215G	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	297					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)									0.431818	103.613208	103.973218	38	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43533162	43533162	16361	15	G	C	C	C	507	39	TGM5	3	3
SEMA6D	80031	broad.mit.edu	37	15	48058162	48058162	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:48058162C>T	uc010bek.2	+	c.1524C>T	c.(1522-1524)ATC>ATT	p.I508I	SEMA6D_uc001zvw.2_Silent_p.I508I|SEMA6D_uc001zvy.2_Silent_p.I508I|SEMA6D_uc001zvz.2_Silent_p.I508I|SEMA6D_uc001zwa.2_Silent_p.I508I|SEMA6D_uc001zwb.2_Silent_p.I508I|SEMA6D_uc001zwc.2_Silent_p.I508I	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	508	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)										0.546961	314.916752	315.263013	99	82	KEEP	---	---	---	---	capture		Silent	SNP	48058162	48058162	14528	15	C	T	T	T	382	30	SEMA6D	2	2
SECISBP2L	9728	broad.mit.edu	37	15	49320347	49320347	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:49320347A>C	uc001zxe.1	-	c.913T>G	c.(913-915)TGT>GGT	p.C305G	SECISBP2L_uc001zxd.1_Missense_Mutation_p.C305G|SECISBP2L_uc010bep.1_Missense_Mutation_p.C67G|SECISBP2L_uc010beq.1_Missense_Mutation_p.C222G	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	305										breast(1)	1														0.473684	25.968906	25.980613	9	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49320347	49320347	14493	15	A	C	C	C	78	6	SECISBP2L	4	4
ATP8B4	79895	broad.mit.edu	37	15	50154462	50154462	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:50154462A>G	uc001zxu.2	-	c.3277T>C	c.(3277-3279)TAC>CAC	p.Y1093H	ATP8B4_uc010ber.2_Missense_Mutation_p.Y966H|ATP8B4_uc010ufd.1_Missense_Mutation_p.Y903H|ATP8B4_uc010ufe.1_Non-coding_Transcript|ATP8B4_uc001zxt.2_Missense_Mutation_p.Y96H	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1093	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|breast(2)|large_intestine(1)	5		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)										0.276596	38.759631	40.867868	13	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50154462	50154462	1216	15	A	G	G	G	208	16	ATP8B4	4	4
AP4E1	23431	broad.mit.edu	37	15	51240291	51240291	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:51240291A>T	uc001zyx.1	+	c.1251A>T	c.(1249-1251)TTA>TTT	p.L417F	AP4E1_uc010ufi.1_3'UTR|AP4E1_uc010ufj.1_Non-coding_Transcript|AP4E1_uc010ufk.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	417					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)										0.6	89.246882	89.647008	27	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51240291	51240291	762	15	A	T	T	T	180	14	AP4E1	3	3
DMXL2	23312	broad.mit.edu	37	15	51830521	51830521	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:51830521G>A	uc010ufy.1	-	c.1234C>T	c.(1234-1236)CGA>TGA	p.R412*	DMXL2_uc002abf.2_Nonsense_Mutation_p.R412*|DMXL2_uc010bfa.2_Nonsense_Mutation_p.R412*	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	412						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)	6				all cancers(107;0.00494)										0.323077	114.025833	117.627667	42	88	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	51830521	51830521	4777	15	G	A	A	A	519	40	DMXL2	5	1
TMOD3	29766	broad.mit.edu	37	15	52181289	52181289	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:52181289A>T	uc002abm.2	+	c.443A>T	c.(442-444)AAG>ATG	p.K148M	TMOD3_uc010bfc.1_Non-coding_Transcript	NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	148						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1				all cancers(107;0.00194)		Colon(122;1837 2251 18387 22826)								0.534653	170.452266	170.557372	54	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52181289	52181289	16775	15	A	T	T	T	39	3	TMOD3	3	3
NEDD4	4734	broad.mit.edu	37	15	56207664	56207664	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:56207664T>G	uc002adj.2	-	c.1366A>C	c.(1366-1368)AGT>CGT	p.S456R	NEDD4_uc002adl.2_Intron|NEDD4_uc002adi.2_Missense_Mutation_p.S456R|NEDD4_uc010ugj.1_Missense_Mutation_p.S456R|NEDD4_uc010bfm.2_Missense_Mutation_p.S456R|NEDD4_uc002adk.2_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	456					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)										0.212766	47.249705	54.415676	20	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56207664	56207664	10709	15	T	G	G	G	728	56	NEDD4	4	4
ALDH1A2	8854	broad.mit.edu	37	15	58302865	58302865	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:58302865C>G	uc002aex.2	-	c.475G>C	c.(475-477)GGG>CGG	p.G159R	ALDH1A2_uc002aey.2_Missense_Mutation_p.G159R|ALDH1A2_uc010ugv.1_Missense_Mutation_p.G138R|ALDH1A2_uc010ugw.1_Missense_Mutation_p.G130R|ALDH1A2_uc002aew.2_Missense_Mutation_p.G63R	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	159					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)									0.4375	74.1738	74.394113	28	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58302865	58302865	494	15	C	G	G	G	273	21	ALDH1A2	3	3
MYO1E	4643	broad.mit.edu	37	15	59494582	59494582	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:59494582C>G	uc002aga.2	-	c.1641G>C	c.(1639-1641)CCG>CCC	p.P547P		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	myosin IE	547	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			central_nervous_system(3)	3				all cancers(107;0.207)										0.057471	-8.59041	9.286591	5	82	KEEP	---	---	---	---	capture		Silent	SNP	59494582	59494582	10467	15	C	G	G	G	288	23	MYO1E	3	3
FOXB1	27023	broad.mit.edu	37	15	60297527	60297527	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:60297527C>A	uc002agj.1	+	c.365C>A	c.(364-366)CCA>CAA	p.P122Q	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	122					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|central_nervous_system(1)	2														0.846154	33.517692	35.000279	11	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60297527	60297527	6234	15	C	A	A	A	273	21	FOXB1	2	2
TLN2	83660	broad.mit.edu	37	15	63055787	63055787	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:63055787T>C	uc002alb.3	+	c.4987T>C	c.(4987-4989)TGT>CGT	p.C1663R	TLN2_uc002alc.3_Missense_Mutation_p.C56R|TLN2_uc002ald.2_Missense_Mutation_p.C56R	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1663					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cell-cell junction|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(4)|breast(2)	6														0.171233	41.479123	56.461153	25	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63055787	63055787	16478	15	T	C	C	C	767	59	TLN2	4	4
HERC1	8925	broad.mit.edu	37	15	63970559	63970559	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:63970559T>G	uc002amp.2	-	c.6555A>C	c.(6553-6555)AAA>AAC	p.K2185N		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2185	B30.2/SPRY.				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														0.146341	10.822151	15.752617	6	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63970559	63970559	7340	15	T	G	G	G	829	64	HERC1	4	4
HERC1	8925	broad.mit.edu	37	15	64067665	64067665	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:64067665T>A	uc002amp.2	-	c.158A>T	c.(157-159)CAA>CTA	p.Q53L	HERC1_uc010uil.1_Missense_Mutation_p.Q53L|HERC1_uc010bgt.1_Missense_Mutation_p.Q53L|HERC1_uc002amq.1_Missense_Mutation_p.Q53L	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	53					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														0.416667	136.256182	136.910741	45	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64067665	64067665	7340	15	T	A	A	A	819	63	HERC1	3	3
IGDCC3	9543	broad.mit.edu	37	15	65623870	65623870	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65623870G>T	uc002aos.2	-	c.1276C>A	c.(1276-1278)CCT>ACT	p.P426T	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	426	Extracellular (Potential).|Fibronectin type-III 1.									ovary(3)	3														0.222222	7.790481	9.069063	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65623870	65623870	7869	15	G	T	T	T	546	42	IGDCC3	2	2
C15orf44	81556	broad.mit.edu	37	15	65899626	65899626	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65899626T>A	uc010uix.1	-	c.201A>T	c.(199-201)GCA>GCT	p.A67A	C15orf44_uc002apd.2_Silent_p.A31A|C15orf44_uc010uiz.1_Silent_p.A31A|C15orf44_uc010uja.1_Intron|C15orf44_uc010ujb.1_Intron|C15orf44_uc002ape.3_Silent_p.A31A|C15orf44_uc010uiy.1_Intron|C15orf44_uc010ujc.1_Silent_p.A31A	NM_001136043	NP_001129515	Q96SY0	CO044_HUMAN	hypothetical protein LOC81556 isoform 1	31	VWFA.									ovary(1)	1														0.402778	88.953754	89.550419	29	43	KEEP	---	---	---	---	capture		Silent	SNP	65899626	65899626	1848	15	T	A	A	A	704	55	C15orf44	3	3
DENND4A	10260	broad.mit.edu	37	15	65998502	65998502	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:65998502C>T	uc002api.2	-	c.2014G>A	c.(2014-2016)GAA>AAA	p.E672K	DENND4A_uc002aph.2_Missense_Mutation_p.E672K|DENND4A_uc002apj.3_Missense_Mutation_p.E672K	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 1	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|skin(1)	3														0.489796	69.394081	69.398622	24	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65998502	65998502	4612	15	C	T	T	T	377	29	DENND4A	2	2
RPL4	6124	broad.mit.edu	37	15	66794968	66794968	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:66794968C>G	uc002apv.2	-	c.403G>C	c.(403-405)GCA>CCA	p.A135P	RPL4_uc010bhr.2_Missense_Mutation_p.A41P|RPL4_uc002apw.2_Missense_Mutation_p.A41P|RPL4_uc002apx.2_Missense_Mutation_p.A41P|RPL4_uc010ujq.1_Missense_Mutation_p.A135P|SNORD18C_uc010bhs.1_5'Flank|SNORD18B_uc002apy.1_5'Flank|ZWILCH_uc010bhu.1_5'Flank|ZWILCH_uc002aqb.2_5'Flank|ZWILCH_uc002aqa.2_5'Flank|ZWILCH_uc010bhv.2_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	ribosomal protein L4	135					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0														0.242857	40.176416	44.463218	17	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66794968	66794968	14074	15	C	G	G	G	364	28	RPL4	3	3
ITGA11	22801	broad.mit.edu	37	15	68606130	68606130	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:68606130C>A	uc010bib.2	-	c.2869G>T	c.(2869-2871)GTC>TTC	p.V957F	ITGA11_uc002ari.2_Missense_Mutation_p.V957F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	957	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)									0.285714	37.731599	39.749691	14	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68606130	68606130	8178	15	C	A	A	A	247	19	ITGA11	1	1
NOX5	79400	broad.mit.edu	37	15	69347677	69347677	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:69347677G>T	uc002ars.1	+	c.2003G>T	c.(2002-2004)CGC>CTC	p.R668L	NOX5_uc002arp.1_Missense_Mutation_p.R650L|NOX5_uc002arq.1_Missense_Mutation_p.R622L|NOX5_uc010bid.1_Missense_Mutation_p.R633L|NOX5_uc002arr.1_Missense_Mutation_p.R640L|NOX5_uc010bie.1_Missense_Mutation_p.R468L|NOX5_uc010bif.1_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	668	Extracellular (Potential).				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2														0.344828	115.072854	117.535666	40	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69347677	69347677	10963	15	G	T	T	T	494	38	NOX5	1	1
KIF23	9493	broad.mit.edu	37	15	69737187	69737187	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:69737187G>T	uc002asb.2	+	c.2438G>T	c.(2437-2439)CGC>CTC	p.R813L	KIF23_uc002asc.2_Missense_Mutation_p.R709L|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Missense_Mutation_p.R526L	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	813					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0														0.229412	96.344494	107.75669	39	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69737187	69737187	8602	15	G	T	T	T	494	38	KIF23	1	1
LARP6	55323	broad.mit.edu	37	15	71128756	71128757	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:71128756_71128757CC>TT	uc002ass.2	-	c.288_289GG>AA	c.(286-291)CTGGTG>CTAATG	p.V97M		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	97	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0														0.262295	122.647184	131.983673	48	135	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	71128756	71128757	8955	15	CC	TT	TT	TT	234	18	LARP6	2	2
C15orf60	283677	broad.mit.edu	37	15	73766187	73766187	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:73766187T>A	uc002avq.2	+	c.174T>A	c.(172-174)AAT>AAA	p.N58K	C15orf60_uc010bjb.2_Missense_Mutation_p.N58K	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	hypothetical protein LOC283677	58										pancreas(1)	1														0.428571	47.520908	47.676316	15	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73766187	73766187	1858	15	T	A	A	A	660	51	C15orf60	3	3
C15orf59	388135	broad.mit.edu	37	15	74032670	74032670	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74032670G>A	uc002avy.2	-	c.470C>T	c.(469-471)CCA>CTA	p.P157L		NM_001039614	NP_001034703	Q2T9L4	CO059_HUMAN	hypothetical protein LOC388135	157										pancreas(1)	1														0.383562	77.278246	78.147363	28	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74032670	74032670	1857	15	G	A	A	A	611	47	C15orf59	2	2
PML	5371	broad.mit.edu	37	15	74290568	74290568	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74290568T>A	uc002awv.2	+	c.353T>A	c.(352-354)GTG>GAG	p.V118E	PML_uc002awm.2_Missense_Mutation_p.V118E|PML_uc002awl.2_Missense_Mutation_p.V118E|PML_uc002awj.1_Missense_Mutation_p.V118E|PML_uc002awk.2_Missense_Mutation_p.V118E|PML_uc002awn.2_Missense_Mutation_p.V118E|PML_uc002awo.2_Missense_Mutation_p.V118E|PML_uc002awp.2_Missense_Mutation_p.V118E|PML_uc002awq.2_Missense_Mutation_p.V118E|PML_uc002awr.2_Missense_Mutation_p.V118E|PML_uc002aws.2_Missense_Mutation_p.V118E|PML_uc002awt.2_Missense_Mutation_p.V118E|PML_uc002awu.2_Missense_Mutation_p.V118E|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.V33E	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	118					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				0.153846	9.626864	14.094416	6	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74290568	74290568	12561	15	T	A	A	A	767	59	PML	3	3
SEMA7A	8482	broad.mit.edu	37	15	74704250	74704250	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:74704250C>A	uc002axv.2	-	c.1398G>T	c.(1396-1398)CAG>CAT	p.Q466H	SEMA7A_uc010ulk.1_Missense_Mutation_p.Q301H|SEMA7A_uc010ull.1_Missense_Mutation_p.Q452H	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	466	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2														0.409091	49.019016	49.341256	18	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74704250	74704250	14529	15	C	A	A	A	415	32	SEMA7A	2	2
CYP1A1	1543	broad.mit.edu	37	15	75013378	75013378	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75013378T>G	uc002ayp.3	-	c.1183A>C	c.(1183-1185)AGT>CGT	p.S395R	CYP1A1_uc010bjv.2_Non-coding_Transcript|CYP1A1_uc010bjw.2_Non-coding_Transcript|CYP1A1_uc010bju.2_Missense_Mutation_p.S131R|CYP1A1_uc010bjx.2_Missense_Mutation_p.S131R|CYP1A1_uc002ayq.3_Missense_Mutation_p.S395R|CYP1A1_uc010bjy.2_Intron|CYP1A1_uc010bjz.1_Missense_Mutation_p.S131R	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	395					cellular lipid metabolic process|drug metabolic process|oxidation-reduction process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			breast(2)|ovary(1)|pancreas(1)	4					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)									0.089888	3.02848	18.139841	8	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75013378	75013378	4314	15	T	G	G	G	728	56	CYP1A1	4	4
LMAN1L	79748	broad.mit.edu	37	15	75116745	75116745	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75116745G>T	uc002ayt.1	+	c.1377G>T	c.(1375-1377)TCG>TCT	p.S459S	LMAN1L_uc010bke.1_Silent_p.S447S|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	459	Lumenal (Potential).					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0														0.254237	73.886471	80.36716	30	88	KEEP	---	---	---	---	capture		Silent	SNP	75116745	75116745	9166	15	G	T	T	T	509	40	LMAN1L	1	1
CSPG4	1464	broad.mit.edu	37	15	75983079	75983079	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75983079G>A	uc002baw.2	-	c.327C>T	c.(325-327)CCC>CCT	p.P109P		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	109	Extracellular (Potential).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3										549				0.6	67.277427	67.582675	21	14	KEEP	---	---	---	---	capture		Silent	SNP	75983079	75983079	4101	15	G	A	A	A	548	43	CSPG4	2	2
AGPHD1	123688	broad.mit.edu	37	15	78825798	78825798	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:78825798G>T	uc010unc.1	+	c.908G>T	c.(907-909)GGT>GTT	p.G303V	AGPHD1_uc010ble.2_Intron	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	aminoglycoside phosphotransferase domain	303						cytoplasm	kinase activity				0														0.558824	240.007993	240.417027	76	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78825798	78825798	396	15	G	T	T	T	572	44	AGPHD1	2	2
C15orf26	161502	broad.mit.edu	37	15	81440257	81440257	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81440257G>T	uc002bgb.2	+	c.695G>T	c.(694-696)CGG>CTG	p.R232L		NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	232											0														0.243243	21.154897	23.314089	9	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81440257	81440257	1837	15	G	T	T	T	507	39	C15orf26	1	1
IL16	3603	broad.mit.edu	37	15	81592114	81592114	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:81592114C>A	uc010unp.1	+	c.2573C>A	c.(2572-2574)ACC>AAC	p.T858N	IL16_uc010blq.1_Missense_Mutation_p.T770N|IL16_uc002bge.3_Non-coding_Transcript|IL16_uc002bgh.3_Missense_Mutation_p.T816N|IL16_uc002bgg.2_Missense_Mutation_p.T816N|IL16_uc002bgi.1_Missense_Mutation_p.T206N|IL16_uc002bgj.2_Missense_Mutation_p.T310N|IL16_uc002bgk.2_Missense_Mutation_p.T115N|IL16_uc002bgl.1_Missense_Mutation_p.T115N|IL16_uc010unq.1_Missense_Mutation_p.T115N	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	816					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4														0.196429	24.095812	28.902677	11	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81592114	81592114	7934	15	C	A	A	A	234	18	IL16	2	2
BNC1	646	broad.mit.edu	37	15	83931885	83931885	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:83931885C>G	uc002bjt.1	-	c.2118G>C	c.(2116-2118)GTG>GTC	p.V706V	BNC1_uc010uos.1_Silent_p.V694V	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	706					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														0.234848	70.975178	79.454396	31	101	KEEP	---	---	---	---	capture		Silent	SNP	83931885	83931885	1499	15	C	G	G	G	262	21	BNC1	3	3
SH3GL3	6457	broad.mit.edu	37	15	84257444	84257444	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:84257444A>T	uc002bju.2	+	c.783A>T	c.(781-783)CGA>CGT	p.R261R	SH3GL3_uc010uot.1_Silent_p.R253R|SH3GL3_uc002bjw.2_Silent_p.R253R|SH3GL3_uc002bjx.2_Silent_p.R184R|SH3GL3_uc002bjv.2_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	253	Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|pancreas(1)	2														0.061069	-9.993505	16.349031	8	123	KEEP	---	---	---	---	capture		Silent	SNP	84257444	84257444	14744	15	A	T	T	T	132	11	SH3GL3	3	3
ADAMTSL3	57188	broad.mit.edu	37	15	84657463	84657463	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:84657463G>T	uc002bjz.3	+	c.3737G>T	c.(3736-3738)GGG>GTG	p.G1246V	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1246V|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.G1246V	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1246	Ig-like C2-type 2.					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				0.336538	94.804109	97.256832	35	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84657463	84657463	277	15	G	T	T	T	559	43	ADAMTSL3	2	2
PDE8A	5151	broad.mit.edu	37	15	85626803	85626803	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:85626803C>T	uc002blh.2	+	c.563C>T	c.(562-564)CCC>CTC	p.P188L	PDE8A_uc002bli.2_Missense_Mutation_p.P188L|PDE8A_uc010bnc.2_5'UTR|PDE8A_uc010bnd.2_5'UTR|PDE8A_uc002blj.2_5'UTR|PDE8A_uc002blk.2_5'UTR	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	188					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)	3	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)											0.293578	95.958285	100.114416	32	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85626803	85626803	12074	15	C	T	T	T	286	22	PDE8A	2	2
AGBL1	123624	broad.mit.edu	37	15	86697684	86697684	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:86697684C>A	uc002blz.1	+	c.148C>A	c.(148-150)CTA>ATA	p.L50I		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	50					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0														0.310078	112.049036	116.196003	40	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86697684	86697684	377	15	C	A	A	A	311	24	AGBL1	2	2
AGBL1	123624	broad.mit.edu	37	15	86807601	86807601	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:86807601A>T	uc002blz.1	+	c.1061A>T	c.(1060-1062)CAA>CTA	p.Q354L	AGBL1_uc002bma.1_Missense_Mutation_p.Q85L|AGBL1_uc002bmb.1_Missense_Mutation_p.Q48L	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	354					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0														0.361905	112.015228	113.779761	38	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86807601	86807601	377	15	A	T	T	T	65	5	AGBL1	3	3
AGBL1	123624	broad.mit.edu	37	15	87097715	87097715	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:87097715A>G	uc002blz.1	+	c.2803A>G	c.(2803-2805)AGA>GGA	p.R935G		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	935					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0														0.209302	18.955329	22.316996	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87097715	87097715	377	15	A	G	G	G	88	7	AGBL1	4	4
ACAN	176	broad.mit.edu	37	15	89401263	89401263	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:89401263T>A	uc010upo.1	+	c.5447T>A	c.(5446-5448)GTT>GAT	p.V1816D	ACAN_uc010upp.1_Missense_Mutation_p.V1816D|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)											0.525	64.876024	64.897906	21	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89401263	89401263	118	15	T	A	A	A	780	60	ACAN	3	3
PLIN1	5346	broad.mit.edu	37	15	90210328	90210328	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:90210328C>G	uc010upx.1	-	c.1048G>C	c.(1048-1050)GTG>CTG	p.V350L	PLIN1_uc002boh.2_Missense_Mutation_p.V350L	NM_001145311	NP_001138783	O60240	PLIN1_HUMAN	perilipin 1	350					triglyceride catabolic process	lipid particle	lipid binding			central_nervous_system(1)|skin(1)	2														0.552	236.798721	237.095484	69	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90210328	90210328	12515	15	C	G	G	G	221	17	PLIN1	3	3
FURIN	5045	broad.mit.edu	37	15	91419749	91419749	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:91419749G>T	uc002bpu.1	+	c.334G>T	c.(334-336)GAG>TAG	p.E112*		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	112					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|positive regulation of membrane protein ectodomain proteolysis|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)	4	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)							290				0.346154	22.847285	23.399498	9	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	91419749	91419749	6350	15	G	T	T	T	533	41	FURIN	5	2
IGF1R	3480	broad.mit.edu	37	15	99459972	99459972	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:99459972G>T	uc002bul.2	+	c.2068G>T	c.(2068-2070)GAG>TAG	p.E690*	IGF1R_uc010urq.1_Nonsense_Mutation_p.E690*|IGF1R_uc010bon.2_Nonsense_Mutation_p.E690*|IGF1R_uc010urr.1_Nonsense_Mutation_p.E140*	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	690					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	integral to plasma membrane|microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)					471				0.317647	68.984535	71.503126	27	58	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	99459972	99459972	7872	15	G	T	T	T	585	45	IGF1R	5	2
TXNDC11	51061	broad.mit.edu	37	16	11782228	11782228	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:11782228C>G	uc010buu.1	-	c.2055G>C	c.(2053-2055)CAG>CAC	p.Q685H	TXNDC11_uc002dbg.1_Missense_Mutation_p.Q658H	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	685	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0														0.842105	163.850087	170.170826	48	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11782228	11782228	17348	16	C	G	G	G	259	20	TXNDC11	3	3
CACNA1H	8912	broad.mit.edu	37	16	1245994	1245994	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1245994G>T	uc002cks.2	+	c.614G>T	c.(613-615)CGG>CTG	p.R205L	CACNA1H_uc002ckt.2_Missense_Mutation_p.R205L	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	205	Helical; Name=S4 of repeat I; (Potential).|I.				axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.8	26.305175	27.143437	8	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1245994	1245994	2661	16	G	T	T	T	507	39	CACNA1H	1	1
SNX29	92017	broad.mit.edu	37	16	12497316	12497316	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:12497316C>T	uc002dby.3	+	c.812C>T	c.(811-813)GCG>GTG	p.A271V		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	271	PX.				cell communication		phosphatidylinositol binding			ovary(1)	1														0.304348	18.917723	19.702505	7	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12497316	12497316	15398	16	C	T	T	T	351	27	SNX29	1	1
BAIAP3	8938	broad.mit.edu	37	16	1394694	1394694	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1394694C>A	uc002clk.1	+	c.1857C>A	c.(1855-1857)TTC>TTA	p.F619L	BAIAP3_uc002clj.2_Missense_Mutation_p.F601L|BAIAP3_uc010uuz.1_Missense_Mutation_p.F584L|BAIAP3_uc010uva.1_Missense_Mutation_p.F556L|BAIAP3_uc010uvc.1_Missense_Mutation_p.F548L	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	619					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)												0.9	26.226757	27.751412	9	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1394694	1394694	1325	16	C	A	A	A	389	30	BAIAP3	2	2
PARN	5073	broad.mit.edu	37	16	14576590	14576590	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:14576590C>T	uc010uzd.1	-	c.1575G>A	c.(1573-1575)AAG>AAA	p.K525K	PARN_uc010uzc.1_Silent_p.K464K|PARN_uc010uze.1_Silent_p.K479K|PARN_uc010uzf.1_Silent_p.K350K	NM_002582	NP_002573	O95453	PARN_HUMAN	poly(A)-specific ribonuclease (deadenylation	525					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			ovary(2)	2														0.621951	169.843168	170.913508	51	31	KEEP	---	---	---	---	capture		Silent	SNP	14576590	14576590	11870	16	C	T	T	T	259	20	PARN	2	2
TBL3	10607	broad.mit.edu	37	16	2026110	2026110	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2026110G>A	uc002cnu.1	+	c.1183G>A	c.(1183-1185)GCC>ACC	p.A395T	TBL3_uc002cnv.1_Missense_Mutation_p.A281T|TBL3_uc010bsb.1_Missense_Mutation_p.A184T|TBL3_uc010bsc.1_Missense_Mutation_p.A281T|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	395	WD 8.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						Melanoma(118;616 1651 35077 38081 48633)								0.272727	7.519885	8.032208	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2026110	2026110	16169	16	G	A	A	A	598	46	TBL3	2	2
GP2	2813	broad.mit.edu	37	16	20335513	20335513	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20335513G>T	uc002dgv.2	-	c.160C>A	c.(160-162)CCA>ACA	p.P54T	GP2_uc002dgw.2_Missense_Mutation_p.P54T|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	54						anchored to membrane|extracellular region|plasma membrane				ovary(3)	3														0.894309	369.134049	388.131216	110	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20335513	20335513	6856	16	G	T	T	T	559	43	GP2	2	2
UMOD	7369	broad.mit.edu	37	16	20357559	20357559	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20357559G>T	uc002dhb.2	-	c.1170C>A	c.(1168-1170)GTC>GTA	p.V390V	UMOD_uc002dgz.2_Silent_p.V357V|UMOD_uc002dha.2_Silent_p.V357V	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	357	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														0.298246	43.952868	46.026874	17	40	KEEP	---	---	---	---	capture		Silent	SNP	20357559	20357559	17537	16	G	T	T	T	418	33	UMOD	2	2
ACSM5	54988	broad.mit.edu	37	16	20422935	20422935	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20422935C>A	uc002dhe.2	+	c.129C>A	c.(127-129)AGC>AGA	p.S43R	ACSM5_uc002dhd.1_Missense_Mutation_p.S43R	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	43					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2														0.936508	199.411213	208.951639	59	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20422935	20422935	188	16	C	A	A	A	337	26	ACSM5	2	2
ANKS4B	257629	broad.mit.edu	37	16	21261872	21261872	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:21261872C>A	uc010bwp.1	+	c.985C>A	c.(985-987)CTG>ATG	p.L329M	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	harmonin-interacting ankyrin-repeat containing	329										ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0565)										0.858974	216.566224	226.26052	67	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21261872	21261872	699	16	C	A	A	A	415	32	ANKS4B	2	2
VWA3A	146177	broad.mit.edu	37	16	22144347	22144347	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:22144347G>C	uc010vbq.1	+	c.1999G>C	c.(1999-2001)GAC>CAC	p.D667H	VWA3A_uc010bxd.2_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.D675H	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	667	VWFA 1.					extracellular region				skin(1)	1				GBM - Glioblastoma multiforme(48;0.0439)										0.545455	77.898792	77.977525	24	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22144347	22144347	17809	16	G	C	C	C	585	45	VWA3A	3	3
CASKIN1	57524	broad.mit.edu	37	16	2237394	2237394	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2237394G>T	uc010bsg.1	-	c.686C>A	c.(685-687)GCG>GAG	p.A229E		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	229	ANK 6.				signal transduction	cytoplasm					0														0.384615	14.506738	14.645613	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2237394	2237394	2785	16	G	T	T	T	494	38	CASKIN1	1	1
C16orf79	283870	broad.mit.edu	37	16	2259431	2259431	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2259431G>C	uc010bsh.2	-	c.715C>G	c.(715-717)CTC>GTC	p.L239V	C16orf79_uc002cpi.1_Missense_Mutation_p.L207V	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	hypothetical protein LOC283870	239	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1														0.473684	26.269854	26.281515	9	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2259431	2259431	1889	16	G	C	C	C	429	33	C16orf79	3	3
USP31	57478	broad.mit.edu	37	16	23099057	23099057	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23099057C>A	uc002dll.2	-	c.1515G>T	c.(1513-1515)ACG>ACT	p.T505T	USP31_uc010bxm.2_5'Flank	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	505					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)										0.369565	101.429322	102.803478	34	58	KEEP	---	---	---	---	capture		Silent	SNP	23099057	23099057	17626	16	C	A	A	A	288	23	USP31	1	1
UBFD1	56061	broad.mit.edu	37	16	23570949	23570949	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:23570949G>T	uc002dlv.2	+	c.516G>T	c.(514-516)CAG>CAT	p.Q172H	EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank	NM_019116	NP_061989	O14562	UBFD1_HUMAN	ubiquitin-binding protein homolog	172											0				GBM - Glioblastoma multiforme(48;0.0331)		Melanoma(22;290 1069 22358 48158)								0.958333	81.489705	83.164313	23	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23570949	23570949	17442	16	G	T	T	T	451	35	UBFD1	2	2
PRKCB	5579	broad.mit.edu	37	16	24196450	24196450	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24196450T>A	uc002dme.2	+	c.1552T>A	c.(1552-1554)TAT>AAT	p.Y518N	PRKCB_uc002dmd.2_Missense_Mutation_p.Y518N	NM_002738	NP_002729	P05771	KPCB_HUMAN	protein kinase C, beta isoform 2	518	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)					395				0.8625	235.726813	245.895534	69	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24196450	24196450	12951	16	T	A	A	A	689	53	PRKCB	3	3
SLC5A11	115584	broad.mit.edu	37	16	24922713	24922713	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:24922713G>C	uc002dmu.2	+	c.1887G>C	c.(1885-1887)GAG>GAC	p.E629D	SLC5A11_uc002dms.2_Missense_Mutation_p.E565D|SLC5A11_uc010vcd.1_Missense_Mutation_p.E594D|SLC5A11_uc002dmt.2_Missense_Mutation_p.E473D|SLC5A11_uc010vce.1_Missense_Mutation_p.E559D|SLC5A11_uc010bxt.2_Missense_Mutation_p.E565D|SLC5A11_uc002dmv.2_Missense_Mutation_p.E252D	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	629	Cytoplasmic (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)										0.382775	248.558701	251.072927	80	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24922713	24922713	15160	16	G	C	C	C	425	33	SLC5A11	3	3
ZKSCAN2	342357	broad.mit.edu	37	16	25251549	25251549	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:25251549T>A	uc002dod.3	-	c.2492A>T	c.(2491-2493)TAC>TTC	p.Y831F	ZKSCAN2_uc010vcl.1_Missense_Mutation_p.Y627F	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	831	C2H2-type 3.				regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)										0.899441	547.502954	576.022742	161	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25251549	25251549	18278	16	T	A	A	A	741	57	ZKSCAN2	3	3
PDPK1	5170	broad.mit.edu	37	16	2607912	2607912	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2607912G>A	uc002cqs.2	+	c.233G>A	c.(232-234)CGG>CAG	p.R78Q	PDPK1_uc002cqt.2_Missense_Mutation_p.R78Q|PDPK1_uc010bsn.2_Missense_Mutation_p.R78Q|PDPK1_uc002cqu.2_Missense_Mutation_p.R51Q|PDPK1_uc002cqv.1_Missense_Mutation_p.R51Q|PDPK1_uc010uwe.1_Missense_Mutation_p.R78Q	NM_002613	NP_002604	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	78					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|ovary(1)	3		Ovarian(90;0.17)			Celecoxib(DB00482)					88				0.125	5.280577	9.674899	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2607912	2607912	12108	16	G	A	A	A	507	39	PDPK1	1	1
APOB48R	55911	broad.mit.edu	37	16	28508886	28508886	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28508886G>T	uc002dqb.1	+	c.2497G>T	c.(2497-2499)GAG>TAG	p.E833*	APOB48R_uc010byg.1_Nonsense_Mutation_p.E371*	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	833	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0														0.5	100.16036	100.16036	34	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	28508886	28508886	797	16	G	T	T	T	429	33	APOB48R	5	2
NFATC2IP	84901	broad.mit.edu	37	16	28975070	28975070	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28975070G>T	uc002dru.2	+	c.1146G>T	c.(1144-1146)ATG>ATT	p.M382I	NFATC2IP_uc002drt.2_Missense_Mutation_p.M103I|NFATC2IP_uc002drv.2_Missense_Mutation_p.M101I|NFATC2IP_uc010vdh.1_Missense_Mutation_p.M90I	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	382	Ubiquitin-like.					cytoplasm|nucleus				ovary(1)	1														0.892857	259.086048	271.950724	75	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28975070	28975070	10763	16	G	T	T	T	611	47	NFATC2IP	2	2
SPNS1	83985	broad.mit.edu	37	16	28993708	28993708	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:28993708G>A	uc010vdi.1	+	c.997G>A	c.(997-999)GGA>AGA	p.G333R	SPNS1_uc002drx.2_Missense_Mutation_p.G260R|SPNS1_uc002dsa.2_Missense_Mutation_p.G333R|SPNS1_uc002drz.2_Missense_Mutation_p.G281R|SPNS1_uc010byp.2_Missense_Mutation_p.G259R|SPNS1_uc010byq.1_Missense_Mutation_p.G265R|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	333	Helical; (Potential).				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0														0.423913	121.62703	122.087257	39	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28993708	28993708	15587	16	G	A	A	A	507	39	SPNS1	1	1
CLDN9	9080	broad.mit.edu	37	16	3063874	3063874	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:3063874G>T	uc010uwo.1	+	c.511G>T	c.(511-513)GCT>TCT	p.A171S		NM_020982	NP_066192	O95484	CLD9_HUMAN	claudin 9	171	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0														1	44.090479	44.090356	13	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3063874	3063874	3629	16	G	T	T	T	546	42	CLDN9	2	2
ITGAX	3687	broad.mit.edu	37	16	31372528	31372528	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31372528A>T	uc002ebt.2	+	c.1006A>T	c.(1006-1008)ATT>TTT	p.I336F	ITGAX_uc002ebu.1_Missense_Mutation_p.I336F|ITGAX_uc010vfk.1_5'Flank	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	336	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.962264	195.172129	198.238152	51	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31372528	31372528	8193	16	A	T	T	T	104	8	ITGAX	3	3
ITGAD	3681	broad.mit.edu	37	16	31422424	31422424	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31422424T>A	uc010cap.1	+	c.1384T>A	c.(1384-1386)TGC>AGC	p.C462S	ITGAD_uc002ebv.1_Missense_Mutation_p.C462S	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	462	Extracellular (Potential).|FG-GAP 5.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.820312	710.946135	735.648452	210	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31422424	31422424	8188	16	T	A	A	A	715	55	ITGAD	3	3
ITGAD	3681	broad.mit.edu	37	16	31435184	31435184	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31435184T>A	uc010cap.1	+	c.3067T>A	c.(3067-3069)TGC>AGC	p.C1023S	ITGAD_uc002ebv.1_Missense_Mutation_p.C1022S	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	1022	Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1														0.387097	37.795297	38.140756	12	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31435184	31435184	8188	16	T	A	A	A	715	55	ITGAD	3	3
AHSP	51327	broad.mit.edu	37	16	31539908	31539908	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31539908G>A	uc002ecj.2	+	c.205G>A	c.(205-207)GAG>AAG	p.E69K		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	erythroid associated factor	69					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding				0														0.428571	82.616318	82.896376	27	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31539908	31539908	424	16	G	A	A	A	533	41	AHSP	2	2
ITFG1	81533	broad.mit.edu	37	16	47294485	47294486	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:47294485_47294486CC>AG	uc002eet.2	-	c.1191_1192GG>CT	c.(1189-1194)ATGGTT>ATCTTT	p.397_398MV>IF	ITFG1_uc010vgg.1_Missense_Mutation_p.142_143MV>IF|ITFG1_uc010vgh.1_Missense_Mutation_p.284_285MV>IF	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	397_398						extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)												0.85	177.247976	184.290031	51	9	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	47294485	47294486	8173	16	CC	AG	AG	AG	234	18	ITFG1	2	2
ABCC11	85320	broad.mit.edu	37	16	48212534	48212534	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48212534C>A	uc002eff.1	-	c.3322G>T	c.(3322-3324)GTA>TTA	p.V1108L	ABCC11_uc002efg.1_Missense_Mutation_p.V1108L|ABCC11_uc002efh.1_Missense_Mutation_p.V1108L|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1108	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|central_nervous_system(1)	4		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												0.791667	61.426013	63.313661	19	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48212534	48212534	52	16	C	A	A	A	221	17	ABCC11	2	2
HEATR3	55027	broad.mit.edu	37	16	50128684	50128684	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50128684G>C	uc002efw.2	+	c.1579G>C	c.(1579-1581)GCC>CCC	p.A527P	HEATR3_uc002efx.2_Missense_Mutation_p.A441P	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	527							binding			ovary(1)	1														0.808989	250.834462	258.725207	72	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50128684	50128684	7312	16	G	C	C	C	546	42	HEATR3	3	3
ADCY7	113	broad.mit.edu	37	16	50324504	50324504	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:50324504G>T	uc002egd.1	+	c.308G>T	c.(307-309)TGC>TTC	p.C103F	ADCY7_uc002egb.1_Missense_Mutation_p.C103F|ADCY7_uc002egc.1_Missense_Mutation_p.C103F	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	103	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding				0		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)									0.722222	43.184583	43.987967	13	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50324504	50324504	300	16	G	T	T	T	598	46	ADCY7	2	2
RPGRIP1L	23322	broad.mit.edu	37	16	53670419	53670419	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:53670419C>A	uc002ehp.2	-	c.3226G>T	c.(3226-3228)GAG>TAG	p.E1076*	RPGRIP1L_uc002eho.3_Nonsense_Mutation_p.E1042*|RPGRIP1L_uc010vgy.1_Nonsense_Mutation_p.E1076*|RPGRIP1L_uc010cbx.2_Nonsense_Mutation_p.E1042*|RPGRIP1L_uc010vgz.1_Nonsense_Mutation_p.E1076*	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	1076					negative regulation of G-protein coupled receptor protein signaling pathway	centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)												0.888889	78.415328	82.449827	24	3	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	53670419	53670419	14029	16	C	A	A	A	416	32	RPGRIP1L	5	2
CAPNS2	84290	broad.mit.edu	37	16	55601073	55601073	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55601073G>A	uc002eid.1	+	c.405G>A	c.(403-405)ACG>ACA	p.T135T	LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN	calpain small subunit 2	135	EF-hand 1.|1 (Potential).					cytoplasm|plasma membrane	calcium ion binding				0														0.082707	3.453885	74.044831	33	366	KEEP	---	---	---	---	capture		Silent	SNP	55601073	55601073	2753	16	G	A	A	A	470	37	CAPNS2	1	1
SLC6A2	6530	broad.mit.edu	37	16	55725950	55725950	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55725950T>A	uc002eif.2	+	c.904T>A	c.(904-906)TTG>ATG	p.L302M	SLC6A2_uc010ccd.2_Missense_Mutation_p.L302M|SLC6A2_uc002eig.2_Missense_Mutation_p.L302M|SLC6A2_uc002eih.2_Missense_Mutation_p.L302M|SLC6A2_uc002eii.2_Missense_Mutation_p.L197M|SLC6A2_uc002eij.2_Intron	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	302					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			ovary(2)|pancreas(2)	4				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)									0.367816	181.956516	184.627932	64	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55725950	55725950	15180	16	T	A	A	A	725	56	SLC6A2	3	3
CES1	1066	broad.mit.edu	37	16	55862837	55862837	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55862837C>G	uc002eil.2	-	c.102G>C	c.(100-102)GTG>GTC	p.V34V	CES1_uc002eim.2_Silent_p.V33V|CES1_uc002ein.2_Silent_p.V33V	NM_001025195	NP_001020366	P23141	EST1_HUMAN	carboxylesterase 1 isoform a precursor	33					regulation of synaptic transmission|response to toxin	endoplasmic reticulum lumen	methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	NSCLC(162;1801 2756 42904 52896)								0.202381	40.024212	46.939086	17	67	KEEP	---	---	---	---	capture		Silent	SNP	55862837	55862837	3402	16	C	G	G	G	314	25	CES1	3	3
CES7	221223	broad.mit.edu	37	16	55890296	55890296	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:55890296T>G	uc002eip.2	-	c.1118A>C	c.(1117-1119)AAC>ACC	p.N373T	CES7_uc002eio.2_Missense_Mutation_p.N373T|CES7_uc002eiq.2_Missense_Mutation_p.N134T|CES7_uc002eir.2_Missense_Mutation_p.N267T	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	373					regulation of synaptic transmission	extracellular region	methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)										0.242063	158.985243	174.350035	61	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55890296	55890296	3405	16	T	G	G	G	780	60	CES7	4	4
NUP93	9688	broad.mit.edu	37	16	56871538	56871538	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:56871538G>T	uc002eka.2	+	c.1918G>T	c.(1918-1920)GAG>TAG	p.E640*	NUP93_uc002ekb.2_Nonsense_Mutation_p.E517*|NUP93_uc010vhi.1_Nonsense_Mutation_p.E517*	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	640					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						Colon(33;610 796 1305 1705 38917)								0.237569	100.144954	111.527787	43	138	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	56871538	56871538	11177	16	G	T	T	T	533	41	NUP93	5	2
POLR2C	5432	broad.mit.edu	37	16	57504192	57504192	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57504192G>C	uc002elt.1	+	c.609G>C	c.(607-609)TGG>TGC	p.W203C		NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	203					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0														0.212121	34.507224	39.574539	14	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57504192	57504192	12644	16	G	C	C	C	546	42	POLR2C	3	3
KIFC3	3801	broad.mit.edu	37	16	57794777	57794777	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57794777T>G	uc010vhz.1	-	c.2159A>C	c.(2158-2160)AAC>ACC	p.N720T	KIFC3_uc010vhw.1_Missense_Mutation_p.N596T|KIFC3_uc002emn.2_Non-coding_Transcript|KIFC3_uc002emm.2_Missense_Mutation_p.N559T|KIFC3_uc010vhx.1_Missense_Mutation_p.N556T|KIFC3_uc010cdf.2_Missense_Mutation_p.N559T|KIFC3_uc002emo.3_Missense_Mutation_p.N559T|KIFC3_uc010vhy.1_Missense_Mutation_p.N640T|KIFC3_uc002emq.2_Missense_Mutation_p.N698T|KIFC3_uc002emp.2_Missense_Mutation_p.N698T	NM_001130100	NP_001123572	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 2	698	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			ovary(1)|central_nervous_system(1)	2		all_neural(199;0.224)												0.307692	10.394556	10.823538	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57794777	57794777	8625	16	T	G	G	G	780	60	KIFC3	4	4
CNGB1	1258	broad.mit.edu	37	16	57953129	57953129	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:57953129G>T	uc002emt.2	-	c.1831C>A	c.(1831-1833)CCA>ACA	p.P611T	CNGB1_uc010cdh.2_Missense_Mutation_p.P605T	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	611	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						Colon(156;1293 1853 16336 28962 38659)								0.30303	77.110378	80.540092	30	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57953129	57953129	3738	16	G	T	T	T	533	41	CNGB1	2	2
CDH8	1006	broad.mit.edu	37	16	61687535	61687535	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:61687535C>A	uc002eog.1	-	c.2377G>T	c.(2377-2379)GGT>TGT	p.G793C		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	793	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|breast(1)	7		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)										0.934959	401.306011	420.776122	115	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61687535	61687535	3245	16	C	A	A	A	273	21	CDH8	2	2
CDH8	1006	broad.mit.edu	37	16	61687698	61687698	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:61687698G>T	uc002eog.1	-	c.2214C>A	c.(2212-2214)GCC>GCA	p.A738A		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	738	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|breast(1)	7		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)										0.505747	123.281003	123.283289	44	43	KEEP	---	---	---	---	capture		Silent	SNP	61687698	61687698	3245	16	G	T	T	T	548	43	CDH8	2	2
CDH8	1006	broad.mit.edu	37	16	61854963	61854963	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:61854963C>A	uc002eog.1	-	c.890G>T	c.(889-891)AGG>ATG	p.R297M	CDH8_uc002eoh.2_Missense_Mutation_p.R66M	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	297	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|breast(1)	7		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)										0.284848	123.05391	129.912229	47	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61854963	61854963	3245	16	C	A	A	A	312	24	CDH8	2	2
CDH5	1003	broad.mit.edu	37	16	66424346	66424346	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:66424346C>A	uc002eom.3	+	c.822C>A	c.(820-822)GGC>GGA	p.G274G	CDH5_uc002eon.1_Silent_p.G274G	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	274	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|central_nervous_system(1)	3		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)										0.277778	35.63948	38.088825	15	39	KEEP	---	---	---	---	capture		Silent	SNP	66424346	66424346	3242	16	C	A	A	A	314	25	CDH5	2	2
CMTM1	113540	broad.mit.edu	37	16	66612743	66612743	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:66612743C>G	uc002epr.3	+	c.700C>G	c.(700-702)CTC>GTC	p.L234V	CMTM1_uc002epb.3_Intron|CMTM1_uc002epc.3_Non-coding_Transcript|CMTM1_uc002epd.3_Non-coding_Transcript|CMTM1_uc002epe.3_Non-coding_Transcript|CMTM1_uc002epf.3_Intron|CMTM1_uc002epg.3_Non-coding_Transcript|CMTM1_uc002eph.3_Intron|CMTM1_uc002epi.3_Missense_Mutation_p.L117V|CMTM1_uc002epl.3_Missense_Mutation_p.L70V|CMTM1_uc002epj.3_Intron|CMTM1_uc002epk.3_Missense_Mutation_p.L64V|CMTM1_uc002epa.3_Intron|CMTM1_uc002epn.3_Intron|CMTM1_uc002epo.3_Non-coding_Transcript|CMTM1_uc002epp.3_Non-coding_Transcript|CMTM1_uc002epq.3_Intron|CMTM1_uc010cds.2_Intron|CMTM1_uc002epm.3_Intron|CMTM1_uc002eps.2_Non-coding_Transcript|CMTM2_uc002ept.2_5'Flank|CMTM2_uc010cdu.2_5'Flank	NM_052999	NP_443725	Q8IZ96	CKLF1_HUMAN	chemokine-like factor superfamily 1 isoform 13	117	MARVEL.|Helical; (Potential).				chemotaxis	extracellular space|integral to membrane	cytokine activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)										0.095238	3.28913	13.695565	6	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66612743	66612743	3720	16	C	G	G	G	416	32	CMTM1	3	3
PDP2	57546	broad.mit.edu	37	16	66918447	66918447	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:66918447G>A	uc002eqk.1	+	c.260G>A	c.(259-261)CGA>CAA	p.R87Q		NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	pyruvate dehydrogenase phosphatase isoenzyme 2	87					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)										0.402439	193.500677	194.868885	66	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66918447	66918447	12107	16	G	A	A	A	481	37	PDP2	1	1
ACD	65057	broad.mit.edu	37	16	67692248	67692248	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67692248C>A	uc002etq.3	-	c.1105G>T	c.(1105-1107)GGC>TGC	p.G369C	ACD_uc002etp.3_Missense_Mutation_p.G366C|ACD_uc002etr.3_Missense_Mutation_p.G366C|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	369	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)										0.258065	22.293758	23.932503	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67692248	67692248	136	16	C	A	A	A	299	23	ACD	1	1
DPEP3	64180	broad.mit.edu	37	16	68011701	68011701	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68011701A>C	uc002evc.3	-	c.863T>G	c.(862-864)ATG>AGG	p.M288R	DPEP3_uc010cex.2_Missense_Mutation_p.M288R	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	263					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)										0.416667	63.49268	63.783381	20	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68011701	68011701	4899	16	A	C	C	C	104	8	DPEP3	4	4
NFATC3	4775	broad.mit.edu	37	16	68156649	68156649	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68156649C>T	uc002evo.1	+	c.863C>T	c.(862-864)TCA>TTA	p.S288L	NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.S288L|NFATC3_uc002evm.1_Missense_Mutation_p.S288L|NFATC3_uc002evn.1_Missense_Mutation_p.S288L|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	288	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)										0.27193	76.373215	81.721301	31	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68156649	68156649	10764	16	C	T	T	T	377	29	NFATC3	2	2
NFATC3	4775	broad.mit.edu	37	16	68225225	68225225	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68225225C>G	uc002evo.1	+	c.2653C>G	c.(2653-2655)CAT>GAT	p.H885D	NFATC3_uc010vkl.1_Missense_Mutation_p.H406D|NFATC3_uc010vkm.1_Missense_Mutation_p.H406D|NFATC3_uc010vkn.1_Missense_Mutation_p.H406D|NFATC3_uc010vko.1_Missense_Mutation_p.H406D|NFATC3_uc010vkp.1_Missense_Mutation_p.H406D|NFATC3_uc010vkq.1_Missense_Mutation_p.H406D|NFATC3_uc002evl.2_Missense_Mutation_p.H406D|NFATC3_uc002evk.2_Missense_Mutation_p.H885D|NFATC3_uc002evm.1_Missense_Mutation_p.H885D|NFATC3_uc002evn.1_Missense_Mutation_p.H885D|NFATC3_uc010vkr.1_Missense_Mutation_p.H406D|NFATC3_uc010vks.1_Missense_Mutation_p.H406D|NFATC3_uc010vkt.1_Missense_Mutation_p.H406D|NFATC3_uc010vku.1_Missense_Mutation_p.H406D|NFATC3_uc010vkv.1_Missense_Mutation_p.H406D|NFATC3_uc010vkw.1_Missense_Mutation_p.H406D|NFATC3_uc010vkx.1_Missense_Mutation_p.H406D|NFATC3_uc010vky.1_Missense_Mutation_p.H406D|NFATC3_uc010vkz.1_Missense_Mutation_p.H406D|NFATC3_uc010vla.1_Missense_Mutation_p.H406D|NFATC3_uc010vlb.1_Missense_Mutation_p.H406D|NFATC3_uc010vlc.1_Missense_Mutation_p.H406D	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	885					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)										0.371681	132.817955	134.453773	42	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68225225	68225225	10764	16	C	G	G	G	377	29	NFATC3	3	3
PRMT7	54496	broad.mit.edu	37	16	68349919	68349919	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68349919G>C	uc002evy.1	+	c.37G>C	c.(37-39)GGG>CGG	p.G13R	PRMT7_uc002evx.1_Missense_Mutation_p.G13R|PRMT7_uc010vlg.1_Missense_Mutation_p.G13R	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	13					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of protein binding|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone binding|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)										0.2	7.880549	10.08841	5	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68349919	68349919	12984	16	G	C	C	C	559	43	PRMT7	3	3
ZFP90	146198	broad.mit.edu	37	16	68597847	68597847	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68597847G>T	uc010cff.2	+	c.1157G>T	c.(1156-1158)AGG>ATG	p.R386M	ZFP90_uc002ewb.2_Nonsense_Mutation_p.G192*|ZFP90_uc002ewc.2_Nonsense_Mutation_p.G192*|ZFP90_uc002ewd.2_Missense_Mutation_p.R386M|ZFP90_uc002ewe.2_Missense_Mutation_p.R386M	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	zinc finger protein 90	386	C2H2-type 6.				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)										0.390625	144.841814	146.17552	50	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68597847	68597847	18243	16	G	T	T	T	455	35	ZFP90	2	2
CDH3	1001	broad.mit.edu	37	16	68713832	68713832	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:68713832G>T	uc002ewf.2	+	c.822G>T	c.(820-822)CGG>CGT	p.R274R	CDH3_uc010vli.1_Silent_p.R219R	NM_001793	NP_001784	P22223	CADH3_HUMAN	cadherin 3, type 1 preproprotein	274	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)	3		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)						243				0.955056	282.406892	291.632286	85	4	KEEP	---	---	---	---	capture		Silent	SNP	68713832	68713832	3240	16	G	T	T	T	522	41	CDH3	2	2
VAC14	55697	broad.mit.edu	37	16	70721913	70721913	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70721913T>C	uc002ezm.2	-	c.2267A>G	c.(2266-2268)GAG>GGG	p.E756G	VAC14_uc010cfw.2_Missense_Mutation_p.E522G|VAC14_uc002ezn.2_Missense_Mutation_p.E321G|MTSS1L_uc002ezj.2_5'Flank|VAC14_uc002ezo.1_Non-coding_Transcript|VAC14_uc002ezl.2_Missense_Mutation_p.E188G	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Vac14 homolog	756					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			pancreas(1)	1		Ovarian(137;0.0699)												0.258065	23.385723	25.029626	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70721913	70721913	17676	16	T	C	C	C	702	54	VAC14	4	4
HYDIN	54768	broad.mit.edu	37	16	70942679	70942679	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:70942679T>A	uc002ezr.2	-	c.8087A>T	c.(8086-8088)GAC>GTC	p.D2696V		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	2697										ovary(1)	1		Ovarian(137;0.0654)												0.65896	355.767488	359.624282	114	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70942679	70942679	7767	16	T	A	A	A	754	58	HYDIN	3	3
TAT	6898	broad.mit.edu	37	16	71604270	71604270	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71604270G>T	uc002fap.2	-	c.943C>A	c.(943-945)CGC>AGC	p.R315S		NM_000353	NP_000344	P17735	ATTY_HUMAN	tyrosine aminotransferase	315					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(2)	2		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)								0.319672	107.003526	110.517378	39	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71604270	71604270	16112	16	G	T	T	T	494	38	TAT	1	1
HPR	3250	broad.mit.edu	37	16	72110641	72110641	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:72110641C>A	uc002fby.2	+	c.708C>A	c.(706-708)GAC>GAA	p.D236E	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	236	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)												0.312796	177.568868	184.100895	66	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72110641	72110641	7629	16	C	A	A	A	233	18	HPR	2	2
BCAR1	9564	broad.mit.edu	37	16	75263684	75263684	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:75263684C>A	uc010vnb.1	-	c.2476G>T	c.(2476-2478)GCG>TCG	p.A826S	BCAR1_uc002fdt.2_Missense_Mutation_p.A233S|BCAR1_uc002fdu.2_Missense_Mutation_p.A570S|BCAR1_uc010cgu.2_Missense_Mutation_p.A769S|BCAR1_uc010vna.1_Missense_Mutation_p.A778S|BCAR1_uc002fdv.2_Missense_Mutation_p.A780S|BCAR1_uc002fdw.2_Missense_Mutation_p.A780S|BCAR1_uc010vnc.1_Missense_Mutation_p.A632S|BCAR1_uc010vnd.1_Missense_Mutation_p.A798S|BCAR1_uc002fdx.2_Missense_Mutation_p.A798S	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	780	Divergent helix-loop-helix motif.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(221;0.169)						221				0.263158	25.099057	26.985339	10	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75263684	75263684	1369	16	C	A	A	A	338	26	BCAR1	2	2
CHST6	4166	broad.mit.edu	37	16	75512678	75512678	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:75512678G>A	uc002fef.2	-	c.1049C>T	c.(1048-1050)GCT>GTT	p.A350V	CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.A350V	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	350	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0														0.34375	31.715174	32.405315	11	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75512678	75512678	3542	16	G	A	A	A	442	34	CHST6	2	2
TMEM231	79583	broad.mit.edu	37	16	75579318	75579318	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:75579318C>A	uc002fek.2	-	c.601G>T	c.(601-603)GTG>TTG	p.V201L	CHST5_uc002fej.1_5'UTR|TMEM231_uc002fel.2_Missense_Mutation_p.V56L|TMEM231_uc002fem.2_Missense_Mutation_p.V172L|TMEM231_uc010vne.1_Missense_Mutation_p.V25L|TMEM231_uc010cgx.1_Missense_Mutation_p.V136L	NM_001077416	NP_001070884	Q9H6L2	TM231_HUMAN	transmembrane protein 231 isoform 1	172						integral to membrane					0														0.330435	117.026777	119.949159	38	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75579318	75579318	16686	16	C	A	A	A	247	19	TMEM231	1	1
MON1B	22879	broad.mit.edu	37	16	77232114	77232114	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77232114G>C	uc002fez.2	+	c.1553G>C	c.(1552-1554)CGG>CCG	p.R518P	MON1B_uc010vnf.1_Missense_Mutation_p.R409P|MON1B_uc010vng.1_Missense_Mutation_p.R372P|MON1B_uc002ffa.2_Missense_Mutation_p.R398P|SYCE1L_uc010vnh.1_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	MON1 homolog B	518							protein binding				0														0.309751	418.171309	435.034299	162	361	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77232114	77232114	10090	16	G	C	C	C	507	39	MON1B	3	3
ADAMTS18	170692	broad.mit.edu	37	16	77356277	77356277	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:77356277A>T	uc002ffc.3	-	c.2119T>A	c.(2119-2121)TGC>AGC	p.C707S	ADAMTS18_uc010chc.1_Missense_Mutation_p.C295S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.C403S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	707	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|kidney(4)|skin(2)|pancreas(1)|ovary(1)	12										1451				0.29697	140.219066	146.295795	49	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77356277	77356277	264	16	A	T	T	T	91	7	ADAMTS18	3	3
MAF	4094	broad.mit.edu	37	16	79628399	79628399	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:79628399C>A	uc002ffm.2	-	c.1170G>T	c.(1168-1170)TGG>TGT	p.W390C	MAF_uc002ffn.2_3'UTR	NM_005360	NP_005351	O75444	MAF_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	Error:Variant_position_missing_in_O75444_after_alignment					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromatin|nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)						35				0.333333	10.796218	11.091317	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79628399	79628399	9532	16	C	A	A	A	390	30	MAF	2	2
PKD1L2	114780	broad.mit.edu	37	16	81171045	81171045	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81171045G>T	uc002fgh.1	-	c.5716C>A	c.(5716-5718)CCA>ACA	p.P1906T	PKD1L2_uc002fgf.1_5'Flank|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	1906	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														0.344828	26.344502	26.959583	10	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81171045	81171045	12389	16	G	T	T	T	559	43	PKD1L2	2	2
PLCG2	5336	broad.mit.edu	37	16	81942046	81942046	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81942046T>A	uc002fgt.2	+	c.1583T>A	c.(1582-1584)TTT>TAT	p.F528Y	PLCG2_uc010chg.1_Missense_Mutation_p.F528Y	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	528					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8										1880				0.292683	60.664802	63.822339	24	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81942046	81942046	12462	16	T	A	A	A	832	64	PLCG2	3	3
ACSF3	197322	broad.mit.edu	37	16	89212441	89212441	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:89212441C>T	uc002fmp.2	+	c.1597C>T	c.(1597-1599)CTC>TTC	p.L533F	ACSF3_uc010cig.1_Missense_Mutation_p.L533F|ACSF3_uc010cih.1_Missense_Mutation_p.L268F|ACSF3_uc002fmq.1_Non-coding_Transcript|ACSF3_uc010cii.1_Non-coding_Transcript|ACSF3_uc002fmr.1_Missense_Mutation_p.L268F	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	533					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)										0.246753	49.28556	53.782201	19	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89212441	89212441	177	16	C	T	T	T	364	28	ACSF3	2	2
DEF8	54849	broad.mit.edu	37	16	90028216	90028216	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:90028216G>T	uc002fpn.1	+	c.934G>T	c.(934-936)GAC>TAC	p.D312Y	DEF8_uc002fpo.1_Missense_Mutation_p.D251Y|DEF8_uc002fpp.1_Missense_Mutation_p.D241Y|DEF8_uc010vpq.1_Missense_Mutation_p.D191Y|DEF8_uc010vpr.1_Missense_Mutation_p.D251Y|DEF8_uc002fpq.1_5'Flank	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	312					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)										0.210526	8.590386	10.062958	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90028216	90028216	4558	16	G	T	T	T	481	37	DEF8	1	1
MYH8	4626	broad.mit.edu	37	17	10298676	10298676	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10298676A>T	uc002gmm.2	-	c.4736T>A	c.(4735-4737)ATC>AAC	p.I1579N		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1579	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.851852	229.921956	239.548091	69	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10298676	10298676	10436	17	A	T	T	T	156	12	MYH8	3	3
MYH8	4626	broad.mit.edu	37	17	10302183	10302183	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10302183C>A	uc002gmm.2	-	c.3883G>T	c.(3883-3885)GAT>TAT	p.D1295Y		NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1295	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(3)|breast(2)	5														0.898305	171.606857	180.935101	53	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10302183	10302183	10436	17	C	A	A	A	416	32	MYH8	2	2
MYH4	4622	broad.mit.edu	37	17	10352218	10352218	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10352218C>A	uc002gmn.2	-	c.4328G>T	c.(4327-4329)TGC>TTC	p.C1443F		NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1443	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|central_nervous_system(1)	11														0.405797	81.980249	82.516887	28	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10352218	10352218	10432	17	C	A	A	A	325	25	MYH4	2	2
MYH1	4619	broad.mit.edu	37	17	10399761	10399761	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10399761C>A	uc002gmo.2	-	c.4762G>T	c.(4762-4764)GAC>TAC	p.D1588Y		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1588	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.463415	333.066254	333.356679	114	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10399761	10399761	10424	17	C	A	A	A	377	29	MYH1	2	2
MYH2	4620	broad.mit.edu	37	17	10432993	10432993	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10432993T>G	uc010coi.2	-	c.3005A>C	c.(3004-3006)AAG>ACG	p.K1002T	MYH2_uc002gmp.3_Missense_Mutation_p.K1002T|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1002	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														0.152174	19.577508	30.261593	14	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10432993	10432993	10430	17	T	G	G	G	728	56	MYH2	4	4
MYH3	4621	broad.mit.edu	37	17	10539076	10539076	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10539076C>A	uc002gmq.1	-	c.3951G>T	c.(3949-3951)AAG>AAT	p.K1317N		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1317	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(1)|pancreas(1)	6														0.515695	345.215767	345.262984	115	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10539076	10539076	10431	17	C	A	A	A	415	32	MYH3	2	2
MYOCD	93649	broad.mit.edu	37	17	12666919	12666919	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:12666919C>A	uc002gno.2	+	c.2919C>A	c.(2917-2919)CTC>CTA	p.L973L	MYOCD_uc002gnn.2_Silent_p.L925L|MYOCD_uc002gnq.2_Silent_p.L649L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	myocardin isoform 1	925					cardiac cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of smooth muscle contraction|regulation of smooth muscle cell differentiation|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription factor binding			central_nervous_system(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)										0.885057	255.825178	268.528063	77	10	KEEP	---	---	---	---	capture		Silent	SNP	12666919	12666919	10482	17	C	A	A	A	366	29	MYOCD	2	2
HS3ST3A1	9955	broad.mit.edu	37	17	13399540	13399540	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:13399540C>A	uc002gob.1	-	c.1195G>T	c.(1195-1197)GGG>TGG	p.G399W		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	heparan sulfate D-glucosaminyl	399	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			ovary(1)|central_nervous_system(1)	2		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)										0.914474	475.412788	501.872879	139	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13399540	13399540	7659	17	C	A	A	A	299	23	HS3ST3A1	1	1
TRPV2	51393	broad.mit.edu	37	17	16338250	16338250	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:16338250C>T	uc002gpy.2	+	c.2161C>T	c.(2161-2163)CTG>TTG	p.L721L	TRPV2_uc002gpz.2_Silent_p.L291L	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	721	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)										0.45614	82.044026	82.139518	26	31	KEEP	---	---	---	---	capture		Silent	SNP	16338250	16338250	17147	17	C	T	T	T	363	28	TRPV2	2	2
MPRIP	23164	broad.mit.edu	37	17	17076055	17076055	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:17076055G>C	uc002gqv.1	+	c.2355G>C	c.(2353-2355)CGG>CGC	p.R785R	MPRIP_uc002gqu.1_Silent_p.R785R|MPRIP_uc002gqw.1_Silent_p.R540R|MPRIP_uc002gqx.1_Silent_p.R1014R|MPRIP_uc002gqy.1_Silent_p.R1014R|MPRIP_uc010cpl.1_Silent_p.R11R|MPRIP_uc010cpm.1_Silent_p.R11R	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	785	Interaction with RHOA.|Potential.					cytoplasm|cytoskeleton	actin binding				0														0.421053	25.001184	25.103324	8	11	KEEP	---	---	---	---	capture		Silent	SNP	17076055	17076055	10135	17	G	C	C	C	548	43	MPRIP	3	3
RTN4RL1	146760	broad.mit.edu	37	17	1840809	1840809	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:1840809C>T	uc002ftp.2	-	c.307G>A	c.(307-309)GAG>AAG	p.E103K		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor	103	LRR 3.				axon regeneration	anchored to plasma membrane	receptor activity				0						GBM(68;949 1139 14865 32798 38342)								0.289474	30.051214	31.536308	11	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1840809	1840809	14211	17	C	T	T	T	390	30	RTN4RL1	2	2
CYTSB	92521	broad.mit.edu	37	17	20108291	20108291	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:20108291G>T	uc002gwq.2	+	c.929G>T	c.(928-930)CGG>CTG	p.R310L	CYTSB_uc010cqx.2_Missense_Mutation_p.R310L|CYTSB_uc002gwr.2_Missense_Mutation_p.R310L|CYTSB_uc002gws.2_Missense_Mutation_p.R310L|CYTSB_uc002gwv.2_Missense_Mutation_p.R229L|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.R86L|CYTSB_uc002gwt.2_Missense_Mutation_p.R229L|CYTSB_uc002gwu.2_Missense_Mutation_p.R229L	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	310	Ser-rich.					nucleus					0														0.507317	341.217268	341.227287	104	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20108291	20108291	4375	17	G	T	T	T	507	39	CYTSB	1	1
DHRS7B	25979	broad.mit.edu	37	17	21075495	21075495	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:21075495C>G	uc002gyo.2	+	c.185C>G	c.(184-186)TCA>TGA	p.S62*	DHRS7B_uc010crc.1_Nonsense_Mutation_p.S47*	NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	62	Peroxisomal (Potential).|NAD or NADP (By similarity).				oxidation-reduction process	integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			pancreas(1)	1														0.391304	28.969665	29.207755	9	14	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21075495	21075495	4675	17	C	G	G	G	377	29	DHRS7B	5	3
KCNJ12	3768	broad.mit.edu	37	17	21319339	21319339	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:21319339C>G	uc002gyv.1	+	c.685C>G	c.(685-687)CGC>GGC	p.R229G		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	229	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)	3				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)						Prostate(3;0.18)			0.235294	20.58853	22.763646	8	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21319339	21319339	8351	17	C	G	G	G	351	27	KCNJ12	3	3
NOS2	4843	broad.mit.edu	37	17	26094792	26094792	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:26094792C>A	uc002gzu.2	-	c.2106G>T	c.(2104-2106)GTG>GTT	p.V702V	NOS2_uc010wab.1_Silent_p.V667V	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	702					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|oxidation-reduction process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			ovary(1)|breast(1)	2					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)					578				0.939394	102.265882	107.032579	31	2	KEEP	---	---	---	---	capture		Silent	SNP	26094792	26094792	10946	17	C	A	A	A	366	29	NOS2	2	2
SUPT6H	6830	broad.mit.edu	37	17	27024728	27024728	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27024728G>A	uc002hby.2	+	c.4300G>A	c.(4300-4302)GAC>AAC	p.D1434N	SUPT6H_uc010crt.2_Missense_Mutation_p.D1434N	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1434					chromatin remodeling|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity|transcription elongation regulator activity			ovary(2)	2	Lung NSC(42;0.00431)													0.077844	-1.825433	28.582259	13	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27024728	27024728	15920	17	G	A	A	A	533	41	SUPT6H	2	2
NUFIP2	57532	broad.mit.edu	37	17	27613887	27613887	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27613887C>A	uc002hdy.3	-	c.1125G>T	c.(1123-1125)GTG>GTT	p.V375V	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	375	Ser-rich.					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)											0.366412	141.171806	143.224657	48	83	KEEP	---	---	---	---	capture		Silent	SNP	27613887	27613887	11154	17	C	A	A	A	210	17	NUFIP2	2	2
SSH2	85464	broad.mit.edu	37	17	27958698	27958698	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27958698C>A	uc010wbh.1	-	c.3514G>T	c.(3514-3516)GAG>TAG	p.E1172*	SSH2_uc002heo.1_Nonsense_Mutation_p.E1145*	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	slingshot 2	1145					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0														0.274809	86.231557	92.223498	36	95	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27958698	27958698	15701	17	C	A	A	A	416	32	SSH2	5	2
SLC6A4	6532	broad.mit.edu	37	17	28548791	28548791	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:28548791A>G	uc002hey.3	-	c.186T>C	c.(184-186)TCT>TCC	p.S62S		NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	62	Cytoplasmic (Potential).				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|integral to plasma membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			ovary(1)	1					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)									0.320158	242.78597	250.05605	81	172	KEEP	---	---	---	---	capture		Silent	SNP	28548791	28548791	15183	17	A	G	G	G	184	15	SLC6A4	4	4
LRRC37B	114659	broad.mit.edu	37	17	30374810	30374810	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:30374810G>T	uc002hgu.2	+	c.2273G>T	c.(2272-2274)GGA>GTA	p.G758V	LRRC37B_uc010wbx.1_Missense_Mutation_p.G676V|LRRC37B_uc010csu.2_Missense_Mutation_p.G707V	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	758	Extracellular (Potential).					integral to membrane				ovary(1)	1		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)												0.285	141.412971	149.702057	57	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30374810	30374810	9369	17	G	T	T	T	533	41	LRRC37B	2	2
MYO1D	4642	broad.mit.edu	37	17	31048086	31048086	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:31048086C>A	uc002hho.1	-	c.1868G>T	c.(1867-1869)CGG>CTG	p.R623L	MYO1D_uc002hhp.1_Missense_Mutation_p.R623L	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	623	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)											0.648649	316.042801	318.939637	96	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31048086	31048086	10466	17	C	A	A	A	299	23	MYO1D	1	1
MYO1D	4642	broad.mit.edu	37	17	31087344	31087344	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:31087344T>C	uc002hho.1	-	c.1260A>G	c.(1258-1260)CAA>CAG	p.Q420Q	MYO1D_uc002hhp.1_Silent_p.Q420Q|MYO1D_uc010wcb.1_Silent_p.Q420Q	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	420	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)											0.311024	726.189749	750.428192	237	525	KEEP	---	---	---	---	capture		Silent	SNP	31087344	31087344	10466	17	T	C	C	C	725	56	MYO1D	4	4
OR1A1	8383	broad.mit.edu	37	17	3119443	3119443	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3119443T>G	uc010vrc.1	+	c.529T>G	c.(529-531)TTC>GTC	p.F177V		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	177	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.117021	16.102631	43.260325	22	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3119443	3119443	11355	17	T	G	G	G	728	56	OR1A1	4	4
ACCN1	40	broad.mit.edu	37	17	31618817	31618817	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:31618817T>G	uc002hht.2	-	c.317A>C	c.(316-318)AAC>ACC	p.N106T	ACCN1_uc002hhu.2_Intron	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	amiloride-sensitive cation channel 1, neuronal	62	Extracellular (By similarity).				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Breast(31;0.042)|Ovarian(249;0.202)		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	Amiloride(DB00594)									0.294118	26.836096	28.126354	10	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31618817	31618817	129	17	T	G	G	G	780	60	ACCN1	4	4
CCL13	6357	broad.mit.edu	37	17	32683575	32683575	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32683575G>T	uc002hic.2	+	c.30G>T	c.(28-30)CTG>CTT	p.L10L		NM_005408	NP_005399	Q99616	CCL13_HUMAN	small inducible cytokine A13 precursor	10					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity				0		Ovarian(249;0.0443)|Breast(31;0.151)												0.309148	264.17149	274.498278	98	219	KEEP	---	---	---	---	capture		Silent	SNP	32683575	32683575	3009	17	G	T	T	T	587	46	CCL13	2	2
CCT6B	10693	broad.mit.edu	37	17	33281507	33281507	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33281507C>A	uc002hig.2	-	c.448G>T	c.(448-450)GAT>TAT	p.D150Y	CCT6B_uc010ctg.2_Missense_Mutation_p.D150Y|CCT6B_uc010wcc.1_Missense_Mutation_p.D105Y	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	150					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)												0.255814	53.105583	57.759321	22	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33281507	33281507	3085	17	C	A	A	A	416	32	CCT6B	2	2
OR1E2	8388	broad.mit.edu	37	17	3336584	3336584	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3336584G>T	uc010vre.1	-	c.552C>A	c.(550-552)CCC>CCA	p.P184P		NM_003554	NP_003545	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E,	184	Extracellular (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.507576	199.104151	199.110464	67	65	KEEP	---	---	---	---	capture		Silent	SNP	3336584	3336584	11361	17	G	T	T	T	548	43	OR1E2	2	2
SPATA22	84690	broad.mit.edu	37	17	3343456	3343456	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3343456C>T	uc002fvm.2	-	c.1077G>A	c.(1075-1077)GTG>GTA	p.V359V	SPATA22_uc010vrg.1_Silent_p.V343V|SPATA22_uc010vrf.1_3'UTR|SPATA22_uc002fvn.2_Silent_p.V359V|SPATA22_uc002fvo.2_Silent_p.V359V|SPATA22_uc002fvp.2_Silent_p.V359V|SPATA22_uc010ckf.2_Silent_p.V316V	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	359											0														0.366667	92.629734	94.044597	33	57	KEEP	---	---	---	---	capture		Silent	SNP	3343456	3343456	15516	17	C	T	T	T	366	29	SPATA22	2	2
GAS2L2	246176	broad.mit.edu	37	17	34072633	34072633	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34072633C>A	uc002hjv.1	-	c.1883G>T	c.(1882-1884)GGG>GTG	p.G628V		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	628					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)										0.345455	107.422047	109.739444	38	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34072633	34072633	6511	17	C	A	A	A	286	22	GAS2L2	2	2
C17orf66	256957	broad.mit.edu	37	17	34185940	34185940	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34185940C>G	uc002hke.1	-	c.891G>C	c.(889-891)GAG>GAC	p.E297D	C17orf66_uc010wck.1_Non-coding_Transcript|C17orf66_uc010wcl.1_Missense_Mutation_p.E257D|C17orf66_uc010wcm.1_Missense_Mutation_p.E263D	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	hypothetical protein LOC256957	297							binding			breast(2)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)										0.264748	506.221041	541.053898	184	511	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34185940	34185940	1931	17	C	G	G	G	259	20	C17orf66	3	3
TRPV1	7442	broad.mit.edu	37	17	3470119	3470119	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3470119C>A	uc010vro.1	-	c.2543G>T	c.(2542-2544)GGG>GTG	p.G848V	TRPV1_uc010vrp.1_Missense_Mutation_p.G777V|TRPV1_uc010vrq.1_Missense_Mutation_p.G835V|TRPV1_uc010vrr.1_Missense_Mutation_p.G837V|TRPV1_uc010vrs.1_Missense_Mutation_p.G837V|TRPV1_uc010vrt.1_Missense_Mutation_p.G837V|TRPV1_uc010vru.1_Missense_Mutation_p.G837V	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel,	837	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			ovary(1)	1				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	Melanoma(38;962 1762 15789)								0.439024	52.741573	52.874722	18	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3470119	3470119	17146	17	C	A	A	A	286	22	TRPV1	2	2
SYNRG	11276	broad.mit.edu	37	17	35898474	35898474	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:35898474C>A	uc002hoa.2	-	c.3469G>T	c.(3469-3471)GTT>TTT	p.V1157F	SYNRG_uc010wde.1_Missense_Mutation_p.V1079F|SYNRG_uc010wdf.1_Missense_Mutation_p.V1079F|SYNRG_uc002hoc.2_Missense_Mutation_p.V1078F|SYNRG_uc002hoe.2_Missense_Mutation_p.V1079F|SYNRG_uc002hod.2_Missense_Mutation_p.V1034F|SYNRG_uc010wdg.1_Missense_Mutation_p.V951F|SYNRG_uc002hob.2_Missense_Mutation_p.V1157F	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	synergin, gamma isoform 1	1157					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			ovary(2)	2														0.290566	212.57019	222.986123	77	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35898474	35898474	15981	17	C	A	A	A	221	17	SYNRG	2	2
GSG2	83903	broad.mit.edu	37	17	3627904	3627904	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3627904A>T	uc002fwp.2	+	c.675A>T	c.(673-675)ACA>ACT	p.T225T	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	225					cell cycle|chromatin modification|intracellular protein kinase cascade|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity				0										41				0.96875	114.101614	115.84883	31	1	KEEP	---	---	---	---	capture		Silent	SNP	3627904	3627904	7102	17	A	T	T	T	80	7	GSG2	3	3
GSDMA	284110	broad.mit.edu	37	17	38126822	38126822	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38126822G>T	uc002htl.1	+	c.480G>T	c.(478-480)GTG>GTT	p.V160V	GSDMA_uc002htm.1_Silent_p.V160V	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	gasdermin 1	160					apoptosis|induction of apoptosis	perinuclear region of cytoplasm					0														0.391304	150.596099	152.030319	54	84	KEEP	---	---	---	---	capture		Silent	SNP	38126822	38126822	7096	17	G	T	T	T	587	46	GSDMA	2	2
ATP2A3	489	broad.mit.edu	37	17	3850917	3850917	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:3850917C>A	uc002fwy.1	-	c.863G>T	c.(862-864)TGG>TTG	p.W288L	ATP2A3_uc002fwx.1_Missense_Mutation_p.W288L|ATP2A3_uc002fwz.1_Missense_Mutation_p.W288L|ATP2A3_uc002fxa.1_Missense_Mutation_p.W288L|ATP2A3_uc002fxb.1_Missense_Mutation_p.W288L|ATP2A3_uc002fxc.1_Missense_Mutation_p.W288L|ATP2A3_uc002fxd.1_Missense_Mutation_p.W288L	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform e	288	Lumenal (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			ovary(3)|breast(1)|central_nervous_system(1)	5				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GBM(32;29 774 15719 37967)								0.380952	23.094434	23.355677	8	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3850917	3850917	1157	17	C	A	A	A	273	21	ATP2A3	2	2
KRT39	390792	broad.mit.edu	37	17	39116593	39116593	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39116593T>G	uc002hvo.1	-	c.1157A>C	c.(1156-1158)AAG>ACG	p.K386T	KRT39_uc010wfm.1_Missense_Mutation_p.K119T	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	386	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)												0.272727	214.374142	229.234903	87	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39116593	39116593	8791	17	T	G	G	G	728	56	KRT39	4	4
KRTAP1-5	83895	broad.mit.edu	37	17	39183048	39183048	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39183048G>T	uc002hvu.2	-	c.360C>A	c.(358-360)CGC>CGA	p.R120R		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	keratin associated protein 1.5	120	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament					0		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)											0.375	46.638696	47.296454	18	30	KEEP	---	---	---	---	capture		Silent	SNP	39183048	39183048	8819	17	G	T	T	T	535	42	KRTAP1-5	2	2
KRTAP4-3	85290	broad.mit.edu	37	17	39324162	39324162	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39324162C>G	uc010cxl.2	-	c.263G>C	c.(262-264)AGC>ACC	p.S88T		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	88	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].|11.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)											0.580645	56.049043	56.224222	18	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39324162	39324162	8874	17	C	G	G	G	364	28	KRTAP4-3	3	3
KRTAP4-3	85290	broad.mit.edu	37	17	39324252	39324252	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39324252C>G	uc010cxl.2	-	c.173G>C	c.(172-174)AGC>ACC	p.S58T		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	58	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].|5.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)											0.695652	56.308645	57.094182	16	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39324252	39324252	8874	17	C	G	G	G	364	28	KRTAP4-3	3	3
KRTAP4-2	85291	broad.mit.edu	37	17	39334236	39334236	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39334236A>G	uc002hwd.2	-	c.181T>C	c.(181-183)TGC>CGC	p.C61R		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	61	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].|10.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)											0.408163	114.871656	115.619486	40	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39334236	39334236	8873	17	A	G	G	G	91	7	KRTAP4-2	4	4
KRTAP4-2	85291	broad.mit.edu	37	17	39334404	39334404	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39334404A>T	uc002hwd.2	-	c.13T>A	c.(13-15)TGT>AGT	p.C5S		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	5	1.|20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)											0.282051	116.829786	123.492287	44	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39334404	39334404	8873	17	A	T	T	T	91	7	KRTAP4-2	3	3
KRTAP9-2	83899	broad.mit.edu	37	17	39383132	39383132	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39383132T>A	uc002hwf.2	+	c.226T>A	c.(226-228)TGC>AGC	p.C76S		NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9.2	76	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].|9.					keratin filament	protein binding				0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)											0.333333	100.539647	103.037115	34	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39383132	39383132	8896	17	T	A	A	A	715	55	KRTAP9-2	3	3
KRT38	8687	broad.mit.edu	37	17	39597007	39597007	+	Missense_Mutation	SNP	C	A	A	rs113218990		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39597007C>A	uc002hwq.1	-	c.167G>T	c.(166-168)CGT>CTT	p.R56L		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	56	Head.					intermediate filament	structural molecule activity				0		Breast(137;0.000496)												0.362319	71.27683	72.459265	25	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39597007	39597007	8790	17	C	A	A	A	247	19	KRT38	1	1
KRT32	3882	broad.mit.edu	37	17	39619273	39619273	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39619273C>G	uc002hwr.2	-	c.1026G>C	c.(1024-1026)GAG>GAC	p.E342D		NM_002278	NP_002269	Q14532	K1H2_HUMAN	keratin 32	342	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000812)												0.125	8.145198	14.715306	6	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39619273	39619273	8783	17	C	G	G	G	415	32	KRT32	3	3
HAP1	9001	broad.mit.edu	37	17	39883692	39883692	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39883692C>A	uc002hxm.1	-	c.1289G>T	c.(1288-1290)GGT>GTT	p.G430V	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Intron|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	430	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)											0.325	34.161279	35.248302	13	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39883692	39883692	7235	17	C	A	A	A	222	18	HAP1	2	2
RAB5C	5878	broad.mit.edu	37	17	40280746	40280746	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40280746T>A	uc010cxx.2	-	c.338A>T	c.(337-339)CAG>CTG	p.Q113L	RAB5C_uc002hyz.2_Missense_Mutation_p.Q80L|RAB5C_uc002hza.2_Missense_Mutation_p.Q80L|RAB5C_uc010cxy.2_5'UTR	NM_201434	NP_958842	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family isoform a	80	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|skin(1)	2		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)										0.308696	196.718667	204.235118	71	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40280746	40280746	13409	17	T	A	A	A	715	55	RAB5C	3	3
STAT5B	6777	broad.mit.edu	37	17	40369475	40369475	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40369475T>A	uc002hzh.2	-	c.1177A>T	c.(1177-1179)AGT>TGT	p.S393C		NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	393					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)	5		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)					288				0.344262	63.458525	64.764317	21	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40369475	40369475	15789	17	T	A	A	A	715	55	STAT5B	3	3
WNK4	65266	broad.mit.edu	37	17	40933114	40933114	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40933114G>A	uc002ibj.2	+	c.398G>A	c.(397-399)GGC>GAC	p.G133D	WNK4_uc010wgx.1_5'UTR|WNK4_uc002ibk.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	133					intracellular protein kinase cascade|protein phosphorylation	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		Esophageal Squamous(6;201 374 4964 23855 42828)				263				0.116279	4.843973	11.078518	5	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40933114	40933114	17954	17	G	A	A	A	546	42	WNK4	2	2
WNK4	65266	broad.mit.edu	37	17	40937188	40937188	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40937188C>A	uc002ibj.2	+	c.1244C>A	c.(1243-1245)ACG>AAG	p.T415K	WNK4_uc010wgx.1_Intron|WNK4_uc002ibk.1_Missense_Mutation_p.T187K|WNK4_uc010wgy.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	415	Protein kinase.				intracellular protein kinase cascade|protein phosphorylation	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		Esophageal Squamous(6;201 374 4964 23855 42828)				263				0.27907	33.085646	34.970745	12	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40937188	40937188	17954	17	C	A	A	A	247	19	WNK4	1	1
WNK4	65266	broad.mit.edu	37	17	40939379	40939379	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40939379G>A	uc002ibj.2	+	c.1560G>A	c.(1558-1560)AAG>AAA	p.K520K	WNK4_uc010wgx.1_Silent_p.K184K|WNK4_uc002ibk.1_Silent_p.K292K|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	520					intracellular protein kinase cascade|protein phosphorylation	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		Esophageal Squamous(6;201 374 4964 23855 42828)				263				0.227723	54.563549	61.44407	23	78	KEEP	---	---	---	---	capture		Silent	SNP	40939379	40939379	17954	17	G	A	A	A	438	34	WNK4	2	2
SLC25A39	51629	broad.mit.edu	37	17	42398532	42398533	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42398532_42398533CG>AT	uc002ign.2	-	c.584_585CG>AT	c.(583-585)TCG>TAT	p.S195Y	SLC25A39_uc002igm.2_Missense_Mutation_p.S187Y|SLC25A39_uc002igo.2_Missense_Mutation_p.S187Y|SLC25A39_uc010wiw.1_Missense_Mutation_p.S172Y|SLC25A39_uc010czu.2_Missense_Mutation_p.S63Y|SLC25A39_uc010wix.1_3'UTR|SLC25A39_uc010wiy.1_3'UTR	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	195	Solcar 2.				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)										0.375	18.652363	18.86935	6	10	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	42398532	42398533	15000	17	CG	AT	AT	AT	236	19	SLC25A39	1	1
GJC1	10052	broad.mit.edu	37	17	42883060	42883060	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:42883060G>A	uc002ihj.2	-	c.126C>T	c.(124-126)TCC>TCT	p.S42S	GJC1_uc002ihk.2_Silent_p.S42S|GJC1_uc002ihl.2_Silent_p.S42S|GJC1_uc010czx.2_Silent_p.S42S|GJC1_uc010czy.1_5'Flank	NM_005497	NP_005488	P36383	CXG1_HUMAN	connexin 45	42	Helical; (Potential).				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane					0		Prostate(33;0.0959)												0.329412	81.971808	84.164103	28	57	KEEP	---	---	---	---	capture		Silent	SNP	42883060	42883060	6682	17	G	A	A	A	600	47	GJC1	2	2
ACBD4	79777	broad.mit.edu	37	17	43214816	43214816	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43214816G>T	uc010wjj.1	+	c.497G>T	c.(496-498)AGC>ATC	p.S166I	ACBD4_uc002iid.2_Missense_Mutation_p.S166I|ACBD4_uc002iie.2_Missense_Mutation_p.S166I|ACBD4_uc002iif.2_Missense_Mutation_p.S166I|ACBD4_uc002iic.2_Missense_Mutation_p.S166I|ACBD4_uc010dae.2_Missense_Mutation_p.S88I	NM_001135704	NP_001129176	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	166				S -> G (in Ref. 2; BAC11403).			fatty-acyl-CoA binding			ovary(1)|kidney(1)	2														0.333333	25.466389	26.130411	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43214816	43214816	125	17	G	T	T	T	442	34	ACBD4	2	2
HEXIM2	124790	broad.mit.edu	37	17	43246830	43246830	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43246830A>G	uc010daf.1	+	c.581A>G	c.(580-582)GAG>GGG	p.E194G	HEXIM2_uc002iih.1_Missense_Mutation_p.E172G|HEXIM2_uc002iii.1_Missense_Mutation_p.E172G|HEXIM2_uc002iij.1_Missense_Mutation_p.E172G	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN	hexamthylene bis-acetamide inducible 2	172					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding|transcription repressor activity				0														0.347826	23.192443	23.662815	8	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43246830	43246830	7360	17	A	G	G	G	143	11	HEXIM2	4	4
SPNS3	201305	broad.mit.edu	37	17	4352683	4352683	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:4352683G>T	uc002fxt.2	+	c.923_splice	c.e7+1	p.S308_splice	SPNS3_uc002fxu.2_Splice_Site_SNP_p.S181_splice	NM_182538	NP_872344			spinster homolog 3						lipid transport|transmembrane transport	integral to membrane				large_intestine(1)	1														0.384615	42.996693	43.457611	15	24	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	4352683	4352683	15589	17	G	T	T	T	572	44	SPNS3	5	2
MAPT	4137	broad.mit.edu	37	17	44039746	44039746	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44039746G>T	uc010dau.2	+	c.43G>T	c.(43-45)GCT>TCT	p.A15S	MAPT_uc002ijr.3_Missense_Mutation_p.A15S|MAPT_uc002ijs.3_Missense_Mutation_p.A15S|MAPT_uc002ijx.3_Missense_Mutation_p.A15S|MAPT_uc002ijt.3_Missense_Mutation_p.A15S|MAPT_uc002iju.3_Missense_Mutation_p.A15S|MAPT_uc002ijv.3_Missense_Mutation_p.A15S	NM_001123066	NP_001116538	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 6	15					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)												0.352273	91.203243	92.894837	31	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44039746	44039746	9680	17	G	T	T	T	494	38	MAPT	1	1
MAPT	4137	broad.mit.edu	37	17	44073970	44073970	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44073970G>T	uc010dau.2	+	c.1767G>T	c.(1765-1767)AAG>AAT	p.K589N	MAPT_uc002ijr.3_Missense_Mutation_p.K571N|MAPT_uc002ijs.3_Missense_Mutation_p.K254N|MAPT_uc002ijx.3_Missense_Mutation_p.K225N|MAPT_uc002ijt.3_Missense_Mutation_p.K196N|MAPT_uc002iju.3_Missense_Mutation_p.K196N|MAPT_uc002ijv.3_Missense_Mutation_p.K203N|STH_uc002ijy.2_5'Flank	NM_001123066	NP_001116538	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 6	571	Tau/MAP 1.	Not glycated.			cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)												0.384615	56.385627	56.993265	20	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44073970	44073970	9680	17	G	T	T	T	425	33	MAPT	2	2
STH	246744	broad.mit.edu	37	17	44076767	44076767	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44076767A>T	uc002ijy.2	+	c.122A>T	c.(121-123)CAG>CTG	p.Q41L	MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	saitohin	41						cytoplasm|nucleus					0														0.318841	64.129551	66.139937	22	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44076767	44076767	15801	17	A	T	T	T	91	7	STH	3	3
STH	246744	broad.mit.edu	37	17	44077011	44077011	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44077011G>T	uc002ijy.2	+	c.366G>T	c.(364-366)CAG>CAT	p.Q122H	MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	saitohin	122						cytoplasm|nucleus					0														0.45	28.072752	28.116293	9	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44077011	44077011	15801	17	G	T	T	T	451	35	STH	2	2
WNT9B	7484	broad.mit.edu	37	17	44949909	44949909	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44949909C>T	uc002ikw.1	+	c.104C>T	c.(103-105)CCC>CTC	p.P35L	WNT9B_uc002ikx.1_Missense_Mutation_p.P35L	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	35					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)											0.651163	545.752685	550.951504	168	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44949909	44949909	17973	17	C	T	T	T	286	22	WNT9B	2	2
NPEPPS	9520	broad.mit.edu	37	17	45668161	45668161	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45668161G>T	uc002ilr.3	+	c.1174G>T	c.(1174-1176)GAG>TAG	p.E392*	NPEPPS_uc010wkt.1_Nonsense_Mutation_p.E388*|NPEPPS_uc010wku.1_Nonsense_Mutation_p.E356*|NPEPPS_uc010wkv.1_5'UTR	NM_006310	NP_006301	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	392					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0														0.164474	45.274767	61.526462	25	127	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	45668161	45668161	10979	17	G	T	T	T	429	33	NPEPPS	5	2
KPNB1	3837	broad.mit.edu	37	17	45752019	45752019	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45752019G>C	uc002ilt.1	+	c.1783G>C	c.(1783-1785)GTG>CTG	p.V595L	KPNB1_uc010wkw.1_Missense_Mutation_p.V450L|KPNB1_uc010wkx.1_Missense_Mutation_p.V379L	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	595					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.282051	95.726582	100.719114	33	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45752019	45752019	8750	17	G	C	C	C	468	36	KPNB1	3	3
HOXB13	10481	broad.mit.edu	37	17	46804345	46804345	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46804345A>T	uc002ioa.2	-	c.662T>A	c.(661-663)ATT>AAT	p.I221N		NM_006361	NP_006352	Q92826	HXB13_HUMAN	homeobox B13	221	Homeobox.				angiogenesis|epidermis development|regulation of transcription, DNA-dependent|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0														0.377193	130.221991	131.721093	43	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46804345	46804345	7592	17	A	T	T	T	52	4	HOXB13	3	3
TTLL6	284076	broad.mit.edu	37	17	46847394	46847394	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46847394C>T	uc010wlo.1	-	c.2106G>A	c.(2104-2106)CCG>CCA	p.P702P	TTLL6_uc002iob.2_Silent_p.P395P|TTLL6_uc010dbi.2_Intron|TTLL6_uc002ioc.2_Silent_p.P455P|TTLL6_uc002iod.2_Intron	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	654						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0														0.328947	67.679201	69.635735	25	51	KEEP	---	---	---	---	capture		Silent	SNP	46847394	46847394	17286	17	C	T	T	T	340	27	TTLL6	1	1
TTLL6	284076	broad.mit.edu	37	17	46862326	46862326	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46862326C>G	uc010wlo.1	-	c.1999G>C	c.(1999-2001)GCC>CCC	p.A667P	TTLL6_uc002iob.2_Missense_Mutation_p.A360P|TTLL6_uc010dbi.2_Non-coding_Transcript|TTLL6_uc002ioc.2_Missense_Mutation_p.A420P|TTLL6_uc002iod.2_Missense_Mutation_p.A514P	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	619						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity				0														0.561983	233.010564	233.416136	68	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46862326	46862326	17286	17	C	G	G	G	338	26	TTLL6	3	3
SNF8	11267	broad.mit.edu	37	17	47014474	47014474	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47014474A>C	uc002ioj.2	-	c.257T>G	c.(256-258)TTT>TGT	p.F86C	SNF8_uc002iok.2_Missense_Mutation_p.F86C	NM_007241	NP_009172	Q96H20	SNF8_HUMAN	EAP30 subunit of ELL complex	86					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	RNA polymerase II transcription factor activity|transcription factor binding				0														0.32766	239.299268	245.486595	77	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47014474	47014474	15346	17	A	C	C	C	13	1	SNF8	4	4
B4GALNT2	124872	broad.mit.edu	37	17	47247031	47247031	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47247031C>A	uc002ion.2	+	c.1642C>A	c.(1642-1644)CGG>AGG	p.R548R	B4GALNT2_uc010wlt.1_Silent_p.R462R|B4GALNT2_uc010wlu.1_Silent_p.R488R	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	548	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			GBM(124;244 1635 8663 18097 33175)								0.395833	55.869603	56.306964	19	29	KEEP	---	---	---	---	capture		Silent	SNP	47247031	47247031	1288	17	C	A	A	A	295	23	B4GALNT2	1	1
B4GALNT2	124872	broad.mit.edu	37	17	47247044	47247044	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47247044A>C	uc002ion.2	+	c.1655A>C	c.(1654-1656)AAG>ACG	p.K552T	B4GALNT2_uc010wlt.1_Missense_Mutation_p.K466T|B4GALNT2_uc010wlu.1_Missense_Mutation_p.K492T	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	552	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)			GBM(124;244 1635 8663 18097 33175)								0.119048	4.469018	10.435817	5	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47247044	47247044	1288	17	A	C	C	C	39	3	B4GALNT2	4	4
ZNF652	22834	broad.mit.edu	37	17	47390085	47390085	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47390085C>A	uc002iov.3	-	c.1023G>T	c.(1021-1023)ATG>ATT	p.M341I	ZNF652_uc002iow.2_Missense_Mutation_p.M341I|ZNF652_uc002iou.3_Non-coding_Transcript	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	341	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)											0.24	74.885359	82.599791	30	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47390085	47390085	18660	17	C	A	A	A	273	21	ZNF652	2	2
MYST2	11143	broad.mit.edu	37	17	47895246	47895246	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47895246G>T	uc002ipm.2	+	c.1028G>T	c.(1027-1029)GGC>GTC	p.G343V	MYST2_uc002ipl.1_Missense_Mutation_p.G313V|MYST2_uc010wma.1_Missense_Mutation_p.G204V|MYST2_uc010wmb.1_Missense_Mutation_p.G233V|MYST2_uc010wmc.1_Missense_Mutation_p.G174V|MYST2_uc010wmd.1_Missense_Mutation_p.G187V|MYST2_uc010wme.1_Missense_Mutation_p.G157V|MYST2_uc010wmf.1_Missense_Mutation_p.G8V|MYST2_uc010wmg.1_Intron	NM_007067	NP_008998	O95251	MYST2_HUMAN	MYST histone acetyltransferase 2	343					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3										227				0.282051	112.075405	118.70983	44	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47895246	47895246	10498	17	G	T	T	T	546	42	MYST2	2	2
CACNA1G	8913	broad.mit.edu	37	17	48703714	48703714	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48703714T>A	uc002irk.1	+	c.6736T>A	c.(6736-6738)TGC>AGC	p.C2246S	CACNA1G_uc002irj.1_Missense_Mutation_p.C2040S|CACNA1G_uc002irl.1_Missense_Mutation_p.C2130S|CACNA1G_uc002irm.1_Missense_Mutation_p.C2167S|CACNA1G_uc002irn.1_Missense_Mutation_p.C2112S|CACNA1G_uc002iro.1_Missense_Mutation_p.C2119S|CACNA1G_uc002irp.1_Missense_Mutation_p.C2201S|CACNA1G_uc002irq.1_Missense_Mutation_p.C2223S|CACNA1G_uc002irr.1_Missense_Mutation_p.C2153S|CACNA1G_uc002irs.1_Missense_Mutation_p.C2190S|CACNA1G_uc002irt.1_Missense_Mutation_p.C2135S|CACNA1G_uc002irv.1_Missense_Mutation_p.C2142S|CACNA1G_uc002irw.1_Missense_Mutation_p.C2175S|CACNA1G_uc002iru.1_Missense_Mutation_p.C2212S|CACNA1G_uc002irx.1_Missense_Mutation_p.C1987S|CACNA1G_uc002iry.1_Missense_Mutation_p.C1976S|CACNA1G_uc002irz.1_Missense_Mutation_p.C2059S|CACNA1G_uc002isa.1_Missense_Mutation_p.C2032S|CACNA1G_uc002isb.1_Missense_Mutation_p.C2073S|CACNA1G_uc002isc.1_Missense_Mutation_p.C2148S|CACNA1G_uc002isd.1_Missense_Mutation_p.C2041S|CACNA1G_uc002ise.1_Missense_Mutation_p.C2069S|CACNA1G_uc002isf.1_Missense_Mutation_p.C2096S|CACNA1G_uc002isg.1_Missense_Mutation_p.C2014S|CACNA1G_uc002ish.1_Missense_Mutation_p.C2021S|CACNA1G_uc002isi.1_Missense_Mutation_p.C2009S	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	2246	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)							OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.4	9.588148	9.678073	4	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48703714	48703714	2660	17	T	A	A	A	767	59	CACNA1G	3	3
ABCC3	8714	broad.mit.edu	37	17	48753029	48753029	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48753029G>T	uc002isl.2	+	c.2752G>T	c.(2752-2754)GGT>TGT	p.G918C		NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	918	Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)					438				0.315789	16.342598	16.916372	6	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48753029	48753029	55	17	G	T	T	T	559	43	ABCC3	2	2
WFIKKN2	124857	broad.mit.edu	37	17	48918082	48918082	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:48918082C>A	uc002isv.3	+	c.1433C>A	c.(1432-1434)TCG>TAG	p.S478*	WFIKKN2_uc010dbu.2_Nonsense_Mutation_p.S385*	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	478	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)											0.391304	81.237976	81.941865	27	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48918082	48918082	17933	17	C	A	A	A	403	31	WFIKKN2	5	1
CA10	56934	broad.mit.edu	37	17	49726546	49726546	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:49726546T>C	uc002itv.3	-	c.649A>G	c.(649-651)AAA>GAA	p.K217E	CA10_uc002itu.3_Missense_Mutation_p.K140E|CA10_uc002itw.3_Missense_Mutation_p.K211E|CA10_uc002itx.3_Missense_Mutation_p.K211E|CA10_uc002ity.3_Missense_Mutation_p.K211E|CA10_uc002itz.2_Missense_Mutation_p.K211E	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	211					brain development					ovary(1)	1			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)											0.318182	64.053368	65.991781	21	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49726546	49726546	2627	17	T	C	C	C	793	61	CA10	4	4
NLRP1	22861	broad.mit.edu	37	17	5462876	5462876	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5462876G>C	uc002gci.2	-	c.1140C>G	c.(1138-1140)CTC>CTG	p.L380L	NLRP1_uc002gcg.1_Silent_p.L380L|NLRP1_uc002gck.2_Silent_p.L380L|NLRP1_uc002gcj.2_Silent_p.L380L|NLRP1_uc002gcl.2_Silent_p.L380L|NLRP1_uc002gch.3_Silent_p.L380L|NLRP1_uc010clh.2_Silent_p.L380L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	380	NACHT.				activation of caspase activity|defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|regulation of inflammatory response|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)								431				0.884058	217.922561	227.943005	61	8	KEEP	---	---	---	---	capture		Silent	SNP	5462876	5462876	10874	17	G	C	C	C	470	37	NLRP1	3	3
OR4D2	124538	broad.mit.edu	37	17	56247355	56247355	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56247355C>T	uc010wnp.1	+	c.339C>T	c.(337-339)TTC>TTT	p.F113F		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2														0.284091	202.712789	213.765747	75	189	KEEP	---	---	---	---	capture		Silent	SNP	56247355	56247355	11463	17	C	T	T	T	415	32	OR4D2	2	2
C17orf47	284083	broad.mit.edu	37	17	56620460	56620460	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56620460G>A	uc002iwq.1	-	c.1088C>T	c.(1087-1089)TCC>TTC	p.S363F	SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	363										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.211111	43.873969	50.821513	19	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56620460	56620460	1914	17	G	A	A	A	533	41	C17orf47	2	2
TRIM37	4591	broad.mit.edu	37	17	57128626	57128626	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57128626C>A	uc002iwy.3	-	c.1263G>T	c.(1261-1263)CAG>CAT	p.Q421H	TRIM37_uc002iwz.3_Missense_Mutation_p.Q421H|TRIM37_uc002ixa.3_Missense_Mutation_p.Q299H|TRIM37_uc010woc.1_Missense_Mutation_p.Q387H	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	421	Potential.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|skin(1)	4	Medulloblastoma(34;0.0922)|all_neural(34;0.101)									422				0.363636	58.987661	59.886246	20	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57128626	57128626	17055	17	C	A	A	A	259	20	TRIM37	2	2
HEATR6	63897	broad.mit.edu	37	17	58150535	58150535	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58150535A>C	uc002iyk.1	-	c.574T>G	c.(574-576)TTA>GTA	p.L192V	HEATR6_uc010wos.1_Missense_Mutation_p.L24V	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	192	HEAT 1.						binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)											0.07874	1.155872	24.173109	10	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58150535	58150535	7316	17	A	C	C	C	37	3	HEATR6	4	4
APPBP2	10513	broad.mit.edu	37	17	58529351	58529351	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58529351T>A	uc002iys.1	-	c.1394A>T	c.(1393-1395)CAA>CTA	p.Q465L	APPBP2_uc010ddl.1_Missense_Mutation_p.Q394L	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	465					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)											0.283333	91.297372	96.35857	34	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58529351	58529351	827	17	T	A	A	A	819	63	APPBP2	3	3
WSCD1	23302	broad.mit.edu	37	17	5993787	5993787	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:5993787T>C	uc010cli.2	+	c.689T>C	c.(688-690)GTG>GCG	p.V230A	WSCD1_uc002gcn.2_Missense_Mutation_p.V230A|WSCD1_uc002gco.2_Missense_Mutation_p.V230A|WSCD1_uc010clj.2_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	230	WSC 1.					integral to membrane	sulfotransferase activity				0														0.464286	34.968775	35.000022	13	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5993787	5993787	17980	17	T	C	C	C	767	59	WSCD1	4	4
MED13	9969	broad.mit.edu	37	17	60059767	60059767	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60059767T>C	uc002izo.2	-	c.3597A>G	c.(3595-3597)TTA>TTG	p.L1199L		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1199					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			large_intestine(1)|ovary(1)	2														0.259843	96.42756	103.05256	33	94	KEEP	---	---	---	---	capture		Silent	SNP	60059767	60059767	9819	17	T	C	C	C	634	49	MED13	4	4
TLK2	11011	broad.mit.edu	37	17	60683536	60683536	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60683536G>A	uc010ddp.2	+	c.1971G>A	c.(1969-1971)AAG>AAA	p.K657K	TLK2_uc002izx.3_Silent_p.K483K|TLK2_uc002izz.3_Silent_p.K635K|TLK2_uc002jaa.3_Silent_p.K603K|TLK2_uc010wpd.1_Silent_p.K603K	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	657	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|protein phosphorylation|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2										505				0.244444	28.602852	31.280301	11	34	KEEP	---	---	---	---	capture		Silent	SNP	60683536	60683536	16474	17	G	A	A	A	425	33	TLK2	2	2
TANC2	26115	broad.mit.edu	37	17	61497616	61497616	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61497616A>G	uc002jal.3	+	c.4273A>G	c.(4273-4275)ATT>GTT	p.I1425V	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.I536V	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1425							binding			ovary(2)	2														0.28866	66.149578	70.042421	28	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61497616	61497616	16066	17	A	G	G	G	104	8	TANC2	4	4
KCNH6	81033	broad.mit.edu	37	17	61615426	61615426	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61615426C>A	uc002jay.2	+	c.1502C>A	c.(1501-1503)TCC>TAC	p.S501Y	KCNH6_uc010wpl.1_Missense_Mutation_p.S378Y|KCNH6_uc010wpm.1_Missense_Mutation_p.S501Y|KCNH6_uc002jaz.1_Missense_Mutation_p.S448Y	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	501	Helical; Name=Segment S6; (Potential).				regulation of transcription, DNA-dependent|signal transduction						0					Ibutilide(DB00308)									0.32	22.091399	22.810955	8	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61615426	61615426	8341	17	C	A	A	A	338	26	KCNH6	2	2
FTSJ3	117246	broad.mit.edu	37	17	61897779	61897779	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61897779C>A	uc002jbz.2	-	c.2092G>T	c.(2092-2094)GAG>TAG	p.E698*	FTSJ3_uc002jca.2_Nonsense_Mutation_p.E698*	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	698					rRNA methylation	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1														0.309917	201.723943	209.520362	75	167	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	61897779	61897779	6340	17	C	A	A	A	377	29	FTSJ3	5	2
GH2	2689	broad.mit.edu	37	17	61958487	61958487	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61958487C>A	uc002jcl.1	-	c.193G>T	c.(193-195)GAG>TAG	p.E65*	GH2_uc002jcj.2_Nonsense_Mutation_p.E65*|CSH2_uc002jck.2_Intron|GH2_uc002jcm.1_Nonsense_Mutation_p.E65*|GH2_uc002jcn.1_Intron|GH2_uc002jco.1_Nonsense_Mutation_p.E65*	NM_022557	NP_072051	P01242	SOM2_HUMAN	growth hormone 2 isoform 2	65						extracellular region	hormone activity			pancreas(1)	1														0.310127	248.215159	258.37559	98	218	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	61958487	61958487	6636	17	C	A	A	A	390	30	GH2	5	2
SCN4A	6329	broad.mit.edu	37	17	62034576	62034576	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62034576G>A	uc002jds.1	-	c.2322C>T	c.(2320-2322)GGC>GGT	p.G774G		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	774	II.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)									0.122807	5.634222	13.537296	7	50	KEEP	---	---	---	---	capture		Silent	SNP	62034576	62034576	14402	17	G	A	A	A	535	42	SCN4A	2	2
ICAM2	3384	broad.mit.edu	37	17	62081157	62081157	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62081157G>T	uc002jdu.3	-	c.496C>A	c.(496-498)CCT>ACT	p.P166T	C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Missense_Mutation_p.P166T|ICAM2_uc010ded.2_Missense_Mutation_p.P166T|ICAM2_uc002jdx.3_Missense_Mutation_p.P166T|ICAM2_uc002jdv.3_Missense_Mutation_p.P166T	NM_000873	NP_000864	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2 precursor	166	Ig-like C2-type 2.|Extracellular (Potential).				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			ovary(1)	1														0.233333	16.746194	18.673882	7	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62081157	62081157	7780	17	G	T	T	T	559	43	ICAM2	2	2
ERN1	2081	broad.mit.edu	37	17	62122776	62122776	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62122776C>A	uc002jdz.2	-	c.2596G>T	c.(2596-2598)GGG>TGG	p.G866W		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	866	Cytoplasmic (Potential).|KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9										295				0.594937	151.528623	152.149166	47	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62122776	62122776	5430	17	C	A	A	A	299	23	ERN1	1	1
POLG2	11232	broad.mit.edu	37	17	62492735	62492735	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:62492735C>A	uc002jei.2	-	c.352G>T	c.(352-354)GTG>TTG	p.V118L	POLG2_uc010deg.1_Missense_Mutation_p.V118L	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	DNA polymerase subunit gamma-2, mitochondrial	118				WWTSVVVFREQ -> MVDLGGGVHGA (in Ref. 5; AAC51321).	DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			Colon(3;18 21 435 17652 48887)								0.256637	71.403744	77.489212	29	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62492735	62492735	12629	17	C	A	A	A	234	18	POLG2	2	2
RGS9	8787	broad.mit.edu	37	17	63221338	63221339	+	Nonsense_Mutation	DNP	CA	AC	AC			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:63221338_63221339CA>AC	uc002jfe.2	+	c.1626_1627CA>AC	c.(1624-1629)TGCAGC>TGACGC	p.542_543CS>*R	RGS9_uc010dem.2_Nonsense_Mutation_p.539_540CS>*R|RGS9_uc002jfd.2_Nonsense_Mutation_p.539_540CS>*R|RGS9_uc002jff.2_Non-coding_Transcript|RGS9_uc002jfg.2_Nonsense_Mutation_p.313_314CS>*R	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	542_543					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)	2														0.288321	197.152758	208.140556	79	195	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	63221338	63221339	13787	17	CA	AC	AC	AC	324	25	RGS9	5	2
PITPNM3	83394	broad.mit.edu	37	17	6367111	6367111	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:6367111G>A	uc002gdd.3	-	c.2247C>T	c.(2245-2247)GCC>GCT	p.A749A	PITPNM3_uc010cln.2_Silent_p.A713A|PITPNM3_uc010clm.2_Silent_p.A232A|PITPNM3_uc002gdc.3_Silent_p.A340A	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	749					phosphatidylinositol metabolic process|response to stimulus|visual perception	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)										0.304348	19.016149	19.801809	7	16	KEEP	---	---	---	---	capture		Silent	SNP	6367111	6367111	12376	17	G	A	A	A	600	47	PITPNM3	2	2
CACNG5	27091	broad.mit.edu	37	17	64880797	64880797	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:64880797A>C	uc002jfr.2	+	c.589A>C	c.(589-591)AGT>CGT	p.S197R	CACNG5_uc010wqi.1_Intron|CACNG5_uc010wqj.1_Intron	NM_014404	NP_055219	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	200				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|postsynaptic density	voltage-gated calcium channel activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)											0.393939	139.256491	140.56048	52	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64880797	64880797	2676	17	A	C	C	C	39	3	CACNG5	4	4
ABCA8	10351	broad.mit.edu	37	17	66883268	66883268	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66883268G>T	uc002jhq.2	-	c.3319C>A	c.(3319-3321)CCA>ACA	p.P1107T	ABCA8_uc002jhp.2_Missense_Mutation_p.P1067T|ABCA8_uc010wqq.1_Missense_Mutation_p.P1107T|ABCA8_uc010wqr.1_Missense_Mutation_p.P1046T	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1067	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2	Breast(10;4.56e-13)													0.584615	124.65901	125.064876	38	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66883268	66883268	39	17	G	T	T	T	559	43	ABCA8	2	2
ABCA6	23460	broad.mit.edu	37	17	67081858	67081858	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67081858C>A	uc002jhw.1	-	c.3938_splice	c.e31-1	p.G1313_splice		NM_080284	NP_525023			ATP-binding cassette, sub-family A, member 6						transport	integral to membrane	ATP binding|ATPase activity			large_intestine(2)|ovary(2)	4	Breast(10;5.65e-12)													0.28629	184.697184	194.877538	71	177	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	67081858	67081858	37	17	C	A	A	A	312	24	ABCA6	5	2
ABCA6	23460	broad.mit.edu	37	17	67098978	67098978	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67098978T>A	uc002jhw.1	-	c.2872A>T	c.(2872-2874)AAG>TAG	p.K958*		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	958					transport	integral to membrane	ATP binding|ATPase activity			large_intestine(2)|ovary(2)	4	Breast(10;5.65e-12)													0.326923	44.855386	46.237951	17	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	67098978	67098978	37	17	T	A	A	A	832	64	ABCA6	5	3
ABCA5	23461	broad.mit.edu	37	17	67247941	67247941	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:67247941C>A	uc002jif.2	-	c.4482G>T	c.(4480-4482)GAG>GAT	p.E1494D	ABCA5_uc002jib.2_Missense_Mutation_p.E460D|ABCA5_uc002jic.2_Missense_Mutation_p.E717D|ABCA5_uc002jid.2_Missense_Mutation_p.E411D|ABCA5_uc002jie.2_Intron|ABCA5_uc002jig.2_Missense_Mutation_p.E1494D	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1494	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation|reverse cholesterol transport	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)	3	Breast(10;3.72e-11)													0.666667	149.171482	150.870156	46	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67247941	67247941	36	17	C	A	A	A	311	24	ABCA5	2	2
KCNJ2	3759	broad.mit.edu	37	17	68171862	68171862	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:68171862C>A	uc010dfg.2	+	c.682C>A	c.(682-684)CGA>AGA	p.R228R	KCNJ2_uc002jir.2_Silent_p.R228R	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	228	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)													0.585586	210.714389	211.434096	65	46	KEEP	---	---	---	---	capture		Silent	SNP	68171862	68171862	8356	17	C	A	A	A	399	31	KCNJ2	1	1
DLG4	1742	broad.mit.edu	37	17	7107081	7107081	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7107081C>T	uc002get.3	-	c.394G>A	c.(394-396)GGT>AGT	p.G132S	DLG4_uc010vtm.1_Non-coding_Transcript|DLG4_uc010vtn.1_Missense_Mutation_p.G29S|DLG4_uc010cly.2_Missense_Mutation_p.G86S|DLG4_uc010vto.1_Missense_Mutation_p.G129S|DLG4_uc002geu.2_Missense_Mutation_p.G86S	NM_001365	NP_001356	P78352	DLG4_HUMAN	post-synaptic density protein 95 isoform 1	89	PDZ 1.				axon guidance|learning|protein complex assembly|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			ovary(1)|breast(1)	2														0.392157	61.79767	62.313939	20	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7107081	7107081	4737	17	C	T	T	T	299	23	DLG4	1	1
SDK2	54549	broad.mit.edu	37	17	71410867	71410867	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:71410867C>T	uc010dfm.2	-	c.2400G>A	c.(2398-2400)GCG>GCA	p.A800A	SDK2_uc010dfn.2_Silent_p.A479A	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	800	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2														0.294118	41.239179	43.153934	15	36	KEEP	---	---	---	---	capture		Silent	SNP	71410867	71410867	14455	17	C	T	T	T	288	23	SDK2	1	1
TTYH2	94015	broad.mit.edu	37	17	72248390	72248390	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72248390T>A	uc002jkc.2	+	c.1134T>A	c.(1132-1134)CTT>CTA	p.L378L	TTYH2_uc010wqw.1_Silent_p.L357L|TTYH2_uc002jkd.2_Silent_p.L57L	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	378	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4														0.308017	193.17866	200.971173	73	164	KEEP	---	---	---	---	capture		Silent	SNP	72248390	72248390	17295	17	T	A	A	A	808	63	TTYH2	3	3
CD300LB	124599	broad.mit.edu	37	17	72522097	72522097	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72522097G>A	uc002jkx.2	-	c.271C>T	c.(271-273)CGC>TGC	p.R91C	CD300LB_uc010wqz.1_Missense_Mutation_p.R91C	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	54	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1														0.341549	536.346329	548.867192	194	374	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72522097	72522097	3127	17	G	A	A	A	494	38	CD300LB	1	1
TMEM104	54868	broad.mit.edu	37	17	72784942	72784942	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:72784942C>T	uc002jls.3	+	c.182C>T	c.(181-183)ACC>ATC	p.T61I	TMEM104_uc010wrf.1_Missense_Mutation_p.T61I|TMEM104_uc010wrg.1_Missense_Mutation_p.T74I|TMEM104_uc010dfx.2_Missense_Mutation_p.T61I	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	61	Cytoplasmic (Potential).					integral to membrane					0	all_lung(278;0.23)													0.1875	39.407955	49.660716	21	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72784942	72784942	16548	17	C	T	T	T	234	18	TMEM104	2	2
NUP85	79902	broad.mit.edu	37	17	73230881	73230881	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:73230881C>T	uc002jng.1	+	c.1765C>T	c.(1765-1767)CAG>TAG	p.Q589*	NUP85_uc010dgd.1_Nonsense_Mutation_p.Q544*|NUP85_uc010wrv.1_Nonsense_Mutation_p.Q543*|NUP85_uc002jnh.1_Nonsense_Mutation_p.Q192*	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	nucleoporin 85	589					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			ovary(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)											0.073529	-9.908429	40.938377	20	252	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	73230881	73230881	11175	17	C	T	T	T	221	17	NUP85	5	2
C17orf74	201243	broad.mit.edu	37	17	7330130	7330130	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7330130G>C	uc002ggw.2	+	c.820G>C	c.(820-822)GAG>CAG	p.E274Q	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	274						integral to membrane					0		Prostate(122;0.157)												0.642857	60.756961	61.26016	18	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7330130	7330130	1937	17	G	C	C	C	585	45	C17orf74	3	3
SPHK1	8877	broad.mit.edu	37	17	74383160	74383160	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74383160A>T	uc002jrj.2	+	c.906A>T	c.(904-906)GGA>GGT	p.G302G	SPHK1_uc002jrf.1_Silent_p.G216G|SPHK1_uc002jrg.1_Silent_p.G165G|SPHK1_uc002jrh.2_Silent_p.G230G|SPHK1_uc002jri.2_Silent_p.G216G|SPHK1_uc002jrk.3_Silent_p.G216G	NM_182965	NP_892010	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 2	216					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						GBM(90;966 1307 27369 33775 44498)								0.434783	26.445445	26.530747	10	13	KEEP	---	---	---	---	capture		Silent	SNP	74383160	74383160	15558	17	A	T	T	T	106	9	SPHK1	3	3
MGAT5B	146664	broad.mit.edu	37	17	74934143	74934143	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74934143G>A	uc002jti.2	+	c.1529G>A	c.(1528-1530)CGG>CAG	p.R510Q	MGAT5B_uc002jth.2_Missense_Mutation_p.R499Q	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	501	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)	2														0.454545	107.255991	107.387892	35	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74934143	74934143	9939	17	G	A	A	A	507	39	MGAT5B	1	1
MGAT5B	146664	broad.mit.edu	37	17	74944047	74944047	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74944047C>A	uc002jti.2	+	c.2086C>A	c.(2086-2088)CAC>AAC	p.H696N	MGAT5B_uc002jth.2_Missense_Mutation_p.H685N|MGAT5B_uc002jtj.2_Missense_Mutation_p.H92N	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	687	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)	2														0.809524	54.584547	56.464596	17	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74944047	74944047	9939	17	C	A	A	A	325	25	MGAT5B	2	2
SHBG	6462	broad.mit.edu	37	17	7536237	7536237	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7536237G>T	uc002gie.2	+	c.1020G>T	c.(1018-1020)TGG>TGT	p.W340C	SHBG_uc010cmo.2_Missense_Mutation_p.W228C|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.W282C|SHBG_uc010cmu.2_Intron|SHBG_uc010cmz.2_Intron|SHBG_uc010cmv.2_Intron|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.W282C|SHBG_uc002gid.3_Intron|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.W322C|SHBG_uc010vuf.1_Intron|SHBG_uc010cnb.2_Intron|SHBG_uc010cnc.2_Intron	NM_001040	NP_001031	P04278	SHBG_HUMAN	sex hormone-binding globulin isoform 1	340	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)			0		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)							OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.481481	37.262466	37.270948	13	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7536237	7536237	14761	17	G	T	T	T	559	43	SHBG	2	2
TP53	7157	broad.mit.edu	37	17	7579375	7579375	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7579375C>A	uc002gim.2	-	c.312G>T	c.(310-312)CAG>CAT	p.Q104H	TP53_uc002gig.1_Missense_Mutation_p.Q104H|TP53_uc002gih.2_Missense_Mutation_p.Q104H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.Q104H|TP53_uc010cni.1_Missense_Mutation_p.Q104H|TP53_uc002gij.2_Missense_Mutation_p.Q104H|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.Q65H|TP53_uc010cnk.1_Missense_Mutation_p.Q119H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	104	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; 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.0?(6)|p.G59fs*23(3)|p.G105fs*18(2)|p.V73fs*9(1)|p.Q104H(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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		690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.416667	263.101598	264.412934	90	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7579375	7579375	16923	17	C	A	A	A	311	24	TP53	2	2
BIRC5	332	broad.mit.edu	37	17	76210464	76210464	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:76210464A>G	uc002jvf.2	+	c.67A>G	c.(67-69)AAG>GAG	p.K23E	BIRC5_uc002jvc.2_Silent_p.S46S|BIRC5_uc002jve.1_Silent_p.S46S|BIRC5_uc002jvd.1_Missense_Mutation_p.K23E|BIRC5_uc010dhk.1_Non-coding_Transcript|BIRC5_uc010dhl.1_Silent_p.S46S|BIRC5_uc002jvg.2_Missense_Mutation_p.K23E|BIRC5_uc002jvh.2_Missense_Mutation_p.K23E|BIRC5_uc002jvi.2_Non-coding_Transcript|EPR1_uc002jvj.1_Non-coding_Transcript	NM_001012271	NP_001012271	O15392	BIRC5_HUMAN	baculoviral IAP repeat-containing protein 5	23	BIR.			K->R: Increases ubiquitination and blocks dissociation from centromeres; when associated with R-62; R-78 and R-79.	anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|negative regulation of caspase activity|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding			kidney(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)							64				0.181818	7.096617	9.183226	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76210464	76210464	1462	17	A	G	G	G	65	5	BIRC5	4	4
LGALS3BP	3959	broad.mit.edu	37	17	76968425	76968425	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:76968425C>A	uc002jwh.2	-	c.991G>T	c.(991-993)GGG>TGG	p.G331W	LGALS3BP_uc002jwi.2_Missense_Mutation_p.G137W|LGALS3BP_uc010dhr.2_Missense_Mutation_p.G137W	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	331	BACK.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GBM(89;1105 1755 18102 21513)								0.666667	104.266273	105.528065	34	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76968425	76968425	9069	17	C	A	A	A	286	22	LGALS3BP	2	2
RNF213	57674	broad.mit.edu	37	17	78317028	78317028	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78317028A>T	uc002jyh.1	+	c.305A>T	c.(304-306)CAG>CTG	p.Q102L		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	12	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)											0.073171	-0.508521	7.17204	3	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78317028	78317028	13955	17	A	T	T	T	91	7	RNF213	3	3
RNF213	57674	broad.mit.edu	37	17	78359421	78359421	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78359421G>T	uc002jyh.1	+	c.8758G>T	c.(8758-8760)GGT>TGT	p.G2920C	RNF213_uc010dhx.1_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	1222										ovary(8)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	12	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)											0.634146	86.860083	87.509273	26	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78359421	78359421	13955	17	G	T	T	T	507	39	RNF213	1	1
AURKB	9212	broad.mit.edu	37	17	8110582	8110582	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8110582C>A	uc002gkn.2	-	c.313G>T	c.(313-315)GCG>TCG	p.A105S	AURKB_uc010cnu.2_5'UTR|AURKB_uc002gkm.2_Missense_Mutation_p.A104S|AURKB_uc010vuu.1_Missense_Mutation_p.A63S|AURKB_uc002gko.2_Non-coding_Transcript	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	104	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore|protein phosphorylation	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(1)|breast(1)|central_nervous_system(1)	3						NSCLC(134;1161 2470 43664 51568)				97				0.421875	76.711184	77.052347	27	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8110582	8110582	1244	17	C	A	A	A	338	26	AURKB	2	2
RCVRN	5957	broad.mit.edu	37	17	9808315	9808315	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:9808315G>T	uc002gme.1	-	c.183C>A	c.(181-183)GAC>GAA	p.D61E		NM_002903	NP_002894	P35243	RECO_HUMAN	recoverin	61	EF-hand 2.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0														0.451613	85.794068	85.920237	28	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9808315	9808315	13655	17	G	T	T	T	568	44	RCVRN	2	2
ESCO1	114799	broad.mit.edu	37	18	19116137	19116137	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:19116137T>C	uc002kth.1	-	c.2053A>G	c.(2053-2055)ATT>GTT	p.I685V	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	685					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0														0.727273	199.634979	203.222963	56	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19116137	19116137	5441	18	T	C	C	C	650	50	ESCO1	4	4
LAMA3	3909	broad.mit.edu	37	18	21437854	21437854	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21437854G>T	uc002kuq.2	+	c.4183G>T	c.(4183-4185)GGG>TGG	p.G1395W	LAMA3_uc002kur.2_Missense_Mutation_p.G1395W	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1395	Domain III B.|Laminin EGF-like 11.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.53	343.055	343.211913	106	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21437854	21437854	8930	18	G	T	T	T	507	39	LAMA3	1	1
LAMA3	3909	broad.mit.edu	37	18	21474271	21474271	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:21474271A>G	uc002kuq.2	+	c.5420A>G	c.(5419-5421)AAC>AGC	p.N1807S	LAMA3_uc002kur.2_Missense_Mutation_p.N1807S|LAMA3_uc002kus.3_Missense_Mutation_p.N198S|LAMA3_uc002kut.3_Missense_Mutation_p.N198S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1807	Domain III A.|Laminin EGF-like 15; truncated.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|central_nervous_system(1)	9	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.416667	408.905919	410.749273	125	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21474271	21474271	8930	18	A	G	G	G	26	2	LAMA3	4	4
ZNF521	25925	broad.mit.edu	37	18	22805578	22805578	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22805578C>T	uc002kvk.2	-	c.2304G>A	c.(2302-2304)CAG>CAA	p.Q768Q	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.Q768Q|ZNF521_uc002kvl.2_Silent_p.Q548Q	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	768	C2H2-type 18.				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				0.225108	126.279175	142.321272	52	179	KEEP	---	---	---	---	capture		Silent	SNP	22805578	22805578	18559	18	C	T	T	T	363	28	ZNF521	2	2
ZNF521	25925	broad.mit.edu	37	18	22807491	22807491	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:22807491T>C	uc002kvk.2	-	c.391A>G	c.(391-393)AGC>GGC	p.S131G	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.S131G|ZNF521_uc002kvl.2_5'UTR	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	131	C2H2-type 2.				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				0.207039	211.66592	250.19088	100	383	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22807491	22807491	18559	18	T	C	C	C	715	55	ZNF521	4	4
CDH2	1000	broad.mit.edu	37	18	25532211	25532211	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25532211G>T	uc002kwg.2	-	c.2627C>A	c.(2626-2628)TCA>TAA	p.S876*	CDH2_uc010xbn.1_Nonsense_Mutation_p.S845*	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	876	Ser-rich.|Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264		OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.684564	643.956895	652.996605	204	94	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	25532211	25532211	3234	18	G	T	T	T	585	45	CDH2	5	2
CDH2	1000	broad.mit.edu	37	18	25543473	25543473	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:25543473T>A	uc002kwg.2	-	c.2362A>T	c.(2362-2364)AGC>TGC	p.S788C	CDH2_uc010xbn.1_Missense_Mutation_p.S757C	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	788	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)	3										264				0.758929	270.323452	277.176849	85	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25543473	25543473	3234	18	T	A	A	A	702	54	CDH2	3	3
SMCHD1	23347	broad.mit.edu	37	18	2688415	2688415	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:2688415C>T	uc002klm.3	+	c.662C>T	c.(661-663)CCA>CTA	p.P221L		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	221					chromosome organization		ATP binding				0														0.857143	149.984013	156.006432	42	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2688415	2688415	15286	18	C	T	T	T	273	21	SMCHD1	2	2
DSC3	1825	broad.mit.edu	37	18	28598167	28598167	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28598167A>G	uc002kwj.3	-	c.1133T>C	c.(1132-1134)ATA>ACA	p.I378T	DSC3_uc002kwi.3_Missense_Mutation_p.I378T	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	378	Cadherin 3.|Extracellular (Potential).				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)											0.227642	74.642196	83.010033	28	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28598167	28598167	4951	18	A	G	G	G	208	16	DSC3	4	4
DSC2	1824	broad.mit.edu	37	18	28672253	28672253	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28672253T>G	uc002kwl.3	-	c.165A>C	c.(163-165)AAA>AAC	p.K55N	DSC2_uc002kwk.3_Missense_Mutation_p.K55N|DSC2_uc010xbo.1_Missense_Mutation_p.K55N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	55					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0241)											0.311111	77.962534	80.824934	28	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28672253	28672253	4950	18	T	G	G	G	725	56	DSC2	4	4
DSG1	1828	broad.mit.edu	37	18	28934679	28934679	+	Silent	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28934679T>G	uc002kwp.2	+	c.2520T>G	c.(2518-2520)TCT>TCG	p.S840S	DSG1_uc010xbp.1_Silent_p.S199S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	840	Desmoglein repeat 2.|Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			ovary(2)|central_nervous_system(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00559)											0.033929	-105.946462	26.690278	19	541	KEEP	---	---	---	---	capture		Silent	SNP	28934679	28934679	4960	18	T	G	G	G	717	56	DSG1	4	4
DSG4	147409	broad.mit.edu	37	18	28980940	28980940	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28980940T>A	uc002kwr.2	+	c.1374T>A	c.(1372-1374)TAT>TAA	p.Y458*	DSG4_uc002kwq.2_Nonsense_Mutation_p.Y458*	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	desmoglein 4 isoform 1 preproprotein	458	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)											0.069767	-2.813627	13.617073	6	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	28980940	28980940	4963	18	T	A	A	A	634	49	DSG4	5	3
FAM59A	64762	broad.mit.edu	37	18	29972987	29972987	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29972987C>A	uc002kxl.2	-	c.133G>T	c.(133-135)GAA>TAA	p.E45*	FAM59A_uc002kxk.1_Nonsense_Mutation_p.E45*	NM_022751	NP_073588	Q9H706	FA59A_HUMAN	family with sequence similarity 59, member A	45	CABIT.									ovary(1)	1														0.256757	136.055687	147.97733	57	165	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	29972987	29972987	5814	18	C	A	A	A	416	32	FAM59A	5	2
DTNA	1837	broad.mit.edu	37	18	32428261	32428261	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:32428261A>G	uc010dmn.1	+	c.1267A>G	c.(1267-1269)ATG>GTG	p.M423V	DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.M366V|DTNA_uc002kxw.2_Missense_Mutation_p.M366V|DTNA_uc010dmj.2_Missense_Mutation_p.M363V|DTNA_uc002kxz.2_Missense_Mutation_p.M363V|DTNA_uc002kxy.2_Missense_Mutation_p.M363V|DTNA_uc010dml.2_Missense_Mutation_p.M363V|DTNA_uc002kyb.3_Missense_Mutation_p.M420V|DTNA_uc010dmm.2_Missense_Mutation_p.M423V|DTNA_uc010xby.1_Missense_Mutation_p.M113V|DTNA_uc010dmo.2_Missense_Mutation_p.M45V|DTNA_uc002kyd.3_Missense_Mutation_p.M45V|DTNA_uc010xbz.1_Missense_Mutation_p.M132V|DTNA_uc010xca.1_Missense_Mutation_p.M75V|DTNA_uc002kye.2_Missense_Mutation_p.M71V	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	423	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0														0.619718	131.306064	132.196669	44	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32428261	32428261	4973	18	A	G	G	G	104	8	DTNA	4	4
RIT2	6014	broad.mit.edu	37	18	40554063	40554063	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:40554063C>A	uc002lav.2	-	c.210G>T	c.(208-210)TTG>TTT	p.L70F	RIT2_uc010dnf.2_Missense_Mutation_p.L70F	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	70					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1														0.944444	178.286358	185.687428	51	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40554063	40554063	13864	18	C	A	A	A	272	21	RIT2	2	2
SIGLEC15	284266	broad.mit.edu	37	18	43405708	43405708	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:43405708C>T	uc002lbl.1	+	c.15C>T	c.(13-15)ATC>ATT	p.I5I		NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15 precursor	5						integral to membrane					0														0.925	382.280983	403.731161	111	9	KEEP	---	---	---	---	capture		Silent	SNP	43405708	43405708	14805	18	C	T	T	T	408	32	SIGLEC15	2	2
ELAC1	55520	broad.mit.edu	37	18	48513120	48513120	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:48513120G>T	uc002lez.2	+	c.757G>T	c.(757-759)GAC>TAC	p.D253Y	SMAD4_uc010xdo.1_Intron	NM_018696	NP_061166	Q9H777	RNZ1_HUMAN	elaC homolog 1	253		Zinc 1; catalytic (By similarity).|Zinc 2; catalytic (By similarity).			tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)										0.632184	172.538535	173.873453	55	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48513120	48513120	5237	18	G	T	T	T	585	45	ELAC1	2	2
MEX3C	51320	broad.mit.edu	37	18	48703429	48703429	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:48703429C>A	uc002lfc.3	-	c.1272G>T	c.(1270-1272)GCG>GCT	p.A424A		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	ring finger and KH domain containing 2	424						cytoplasm|nucleus	RNA binding|zinc ion binding			ovary(1)|skin(1)	2		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)										0.681416	260.21048	263.520937	77	36	KEEP	---	---	---	---	capture		Silent	SNP	48703429	48703429	9901	18	C	A	A	A	236	19	MEX3C	1	1
DCC	1630	broad.mit.edu	37	18	50432543	50432543	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:50432543C>T	uc002lfe.1	+	c.542C>T	c.(541-543)ACT>ATT	p.T181I	DCC_uc010xdr.1_Missense_Mutation_p.T29I	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	181	Extracellular (Potential).|Ig-like C2-type 2.				apoptosis|induction of apoptosis	cytosol|integral to membrane				ovary(6)|large_intestine(1)|central_nervous_system(1)|skin(1)	9		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)										0.116667	17.170512	34.514979	14	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50432543	50432543	4453	18	C	T	T	T	260	20	DCC	2	2
STARD6	147323	broad.mit.edu	37	18	51858163	51858163	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:51858163T>A	uc010xdt.1	-	c.334A>T	c.(334-336)ATC>TTC	p.I112F		NM_139171	NP_631910	P59095	STAR6_HUMAN	START domain containing protein 6	112	START.				lipid transport		lipid binding			ovary(1)	1				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)										0.921348	574.489438	603.988096	164	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51858163	51858163	15780	18	T	A	A	A	637	49	STARD6	3	3
EPB41L3	23136	broad.mit.edu	37	18	5397212	5397212	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:5397212C>A	uc002kmt.1	-	c.2686G>T	c.(2686-2688)GCC>TCC	p.A896S	EPB41L3_uc010wzh.1_Missense_Mutation_p.A727S|EPB41L3_uc002kmu.1_Missense_Mutation_p.A674S|EPB41L3_uc010dkq.1_Missense_Mutation_p.A565S|EPB41L3_uc002kms.1_Missense_Mutation_p.A131S|EPB41L3_uc010wze.1_Missense_Mutation_p.A201S|EPB41L3_uc010wzf.1_Missense_Mutation_p.A193S|EPB41L3_uc010wzg.1_Missense_Mutation_p.A168S|EPB41L3_uc010dkr.2_Missense_Mutation_p.A288S	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	896	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.835165	252.320009	262.015055	76	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5397212	5397212	5347	18	C	A	A	A	325	25	EPB41L3	2	2
ONECUT2	9480	broad.mit.edu	37	18	55104035	55104035	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:55104035C>T	uc002lgo.2	+	c.1087C>T	c.(1087-1089)CGG>TGG	p.R363W		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	363	CUT.				organ morphogenesis	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)										0.568966	109.473677	109.713397	33	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55104035	55104035	11274	18	C	T	T	T	295	23	ONECUT2	1	1
KIAA1468	57614	broad.mit.edu	37	18	59933944	59933944	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59933944A>T	uc002lil.2	+	c.2642A>T	c.(2641-2643)CAG>CTG	p.Q881L	KIAA1468_uc002lik.1_Missense_Mutation_p.Q881L|KIAA1468_uc010xel.1_Missense_Mutation_p.Q881L|KIAA1468_uc002lim.2_Missense_Mutation_p.Q525L	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	881							binding			ovary(2)|breast(2)|large_intestine(1)	5		Colorectal(73;0.186)												0.651163	98.413209	99.280232	28	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59933944	59933944	8545	18	A	T	T	T	91	7	KIAA1468	3	3
SERPINB12	89777	broad.mit.edu	37	18	61231353	61231353	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61231353G>T	uc010xeo.1	+	c.705G>T	c.(703-705)GCG>GCT	p.A235A	SERPINB12_uc010xen.1_Silent_p.A215A	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	215					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity				0														0.272277	149.250874	158.685114	55	147	KEEP	---	---	---	---	capture		Silent	SNP	61231353	61231353	14587	18	G	T	T	T	496	39	SERPINB12	1	1
SERPINB13	5275	broad.mit.edu	37	18	61264337	61264337	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61264337G>A	uc010xep.1	+	c.943G>A	c.(943-945)GGC>AGC	p.G315S	SERPINB13_uc002ljc.2_Missense_Mutation_p.G306S|SERPINB13_uc002ljd.2_Missense_Mutation_p.G170S|SERPINB13_uc010xeq.1_Missense_Mutation_p.G127S|SERPINB13_uc010xer.1_Missense_Mutation_p.G127S	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	306					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1														0.287037	175.676706	184.454796	62	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61264337	61264337	14588	18	G	A	A	A	559	43	SERPINB13	2	2
SERPINB4	6318	broad.mit.edu	37	18	61308221	61308221	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61308221T>C	uc002ljf.2	-	c.356A>G	c.(355-357)TAT>TGT	p.Y119C	SERPINB4_uc002lje.2_Missense_Mutation_p.Y119C|SERPINB4_uc002ljg.2_Intron	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	119					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2										163				0.285714	104.106485	109.006094	34	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61308221	61308221	14591	18	T	C	C	C	637	49	SERPINB4	4	4
SERPINB11	89778	broad.mit.edu	37	18	61379924	61379924	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61379924T>C	uc002ljk.3	+	c.354T>C	c.(352-354)CAT>CAC	p.H118H	SERPINB11_uc010xes.1_5'UTR|SERPINB11_uc010dqd.2_Silent_p.H4H|SERPINB11_uc002ljj.3_Silent_p.H4H|SERPINB11_uc010dqe.2_Silent_p.H4H|SERPINB11_uc010dqf.2_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B, member 11	118					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)	1		Esophageal squamous(42;0.129)				Ovarian(27;496 784 5942 8975 23930)								0.925926	998.065763	1046.724211	275	22	KEEP	---	---	---	---	capture		Silent	SNP	61379924	61379924	14586	18	T	C	C	C	647	50	SERPINB11	4	4
L3MBTL4	91133	broad.mit.edu	37	18	6241424	6241424	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:6241424C>A	uc002kmz.3	-	c.485G>T	c.(484-486)TGG>TTG	p.W162L	L3MBTL4_uc010dkt.2_Missense_Mutation_p.W162L|L3MBTL4_uc002kmy.3_5'UTR	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4	162	MBT 2.				chromatin modification|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		Colorectal(10;0.0249)				Esophageal Squamous(41;748 902 17366 28959 43175)								0.416216	226.533496	227.669248	77	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6241424	6241424	8917	18	C	A	A	A	273	21	L3MBTL4	2	2
CDH7	1005	broad.mit.edu	37	18	63526210	63526210	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:63526210C>A	uc002ljz.2	+	c.1422C>A	c.(1420-1422)GAC>GAA	p.D474E	CDH7_uc002lka.2_Missense_Mutation_p.D474E|CDH7_uc002lkb.2_Missense_Mutation_p.D474E	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	474	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.129)												0.65873	284.449151	287.25138	83	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63526210	63526210	3244	18	C	A	A	A	220	17	CDH7	2	2
LAMA1	284217	broad.mit.edu	37	18	6958477	6958477	+	Nonsense_Mutation	SNP	C	A	A	rs73390524	by1000genomes	TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:6958477C>A	uc002knm.2	-	c.7963G>T	c.(7963-7965)GAA>TAA	p.E2655*	LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Nonsense_Mutation_p.E108*|LAMA1_uc010wzj.1_Nonsense_Mutation_p.E2131*	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2655	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|breast(2)|pancreas(2)|central_nervous_system(1)	17		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)				p.E108Q(DAUDI-Tumor)|p.E108Q(ALEXANDERCELLS-Tumor)	1597				0.73913	157.534659	161.099714	51	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	6958477	6958477	8928	18	C	A	A	A	390	30	LAMA1	5	2
CNDP1	84735	broad.mit.edu	37	18	72226588	72226588	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:72226588G>T	uc002llq.2	+	c.184G>T	c.(184-186)GAC>TAC	p.D62Y		NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	62					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		Melanoma(32;1029 1042 25286 38395 44237)								0.209677	27.638337	32.484382	13	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72226588	72226588	3731	18	G	T	T	T	481	37	CNDP1	1	1
ZNF407	55628	broad.mit.edu	37	18	72345693	72345693	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:72345693G>T	uc002llw.2	+	c.2718G>T	c.(2716-2718)CGG>CGT	p.R906R	ZNF407_uc010xfc.1_Silent_p.R906R|ZNF407_uc010dqu.1_Silent_p.R906R|ZNF407_uc002llu.2_Silent_p.R905R	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	906					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)										0.659218	374.104924	378.1349	118	61	KEEP	---	---	---	---	capture		Silent	SNP	72345693	72345693	18480	18	G	T	T	T	548	43	ZNF407	2	2
ZNF516	9658	broad.mit.edu	37	18	74154036	74154036	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:74154036C>A	uc010dqx.1	-	c.975G>T	c.(973-975)GAG>GAT	p.E325D	ZNF516_uc002lme.2_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)										0.25	46.188217	50.506627	19	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74154036	74154036	18554	18	C	A	A	A	311	24	ZNF516	2	2
COL5A3	50509	broad.mit.edu	37	19	10087928	10087928	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10087928T>A	uc002mmq.1	-	c.3265A>T	c.(3265-3267)AGT>TGT	p.S1089C		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	1089	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)	9			Epithelial(33;7.11e-05)											0.892405	464.727256	488.829526	141	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10087928	10087928	3836	19	T	A	A	A	702	54	COL5A3	3	3
PPAN-P2RY11	692312	broad.mit.edu	37	19	10218214	10218214	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10218214G>T	uc002mna.2	+	c.223G>T	c.(223-225)GCA>TCA	p.A75S	PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.A75S|PPAN_uc002mmz.1_Missense_Mutation_p.A75S|PPAN_uc002mnb.1_Missense_Mutation_p.A22S|SNORD105_uc010dwy.1_5'Flank|SNORD105B_uc010dwz.1_5'Flank	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	75	Brix.				RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)											0.5	39.574349	39.574349	13	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10218214	10218214	12719	19	G	T	T	T	546	42	PPAN-P2RY11	2	2
PPAN-P2RY11	692312	broad.mit.edu	37	19	10218681	10218681	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10218681C>A	uc002mna.2	+	c.384C>A	c.(382-384)CAC>CAA	p.H128Q	PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.H128Q|PPAN_uc002mmz.1_Missense_Mutation_p.H128Q|PPAN_uc002mnb.1_Missense_Mutation_p.H75Q|SNORD105B_uc010dwz.1_5'Flank	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	128	Brix.				RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)											0.566667	50.862377	50.976706	17	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10218681	10218681	12719	19	C	A	A	A	233	18	PPAN-P2RY11	2	2
PDE4A	5141	broad.mit.edu	37	19	10559756	10559756	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10559756G>T	uc002moj.2	+	c.550G>T	c.(550-552)GTG>TTG	p.V184L	PDE4A_uc002mok.2_Missense_Mutation_p.V158L|PDE4A_uc002mol.2_Missense_Mutation_p.V123L	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	184					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)									0.863636	62.338177	65.154083	19	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10559756	10559756	12060	19	G	T	T	T	572	44	PDE4A	2	2
C19orf52	90580	broad.mit.edu	37	19	11040235	11040235	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11040235G>C	uc002mqd.1	+	c.640G>C	c.(640-642)GAT>CAT	p.D214H	YIPF2_uc002mqb.2_5'Flank|YIPF2_uc002mqc.2_5'Flank	NM_138358	NP_612367	Q9BSF4	CS052_HUMAN	hypothetical protein LOC90580	214											0														0.461538	20.25133	20.267736	6	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11040235	11040235	1998	19	G	C	C	C	481	37	C19orf52	3	3
EPOR	2057	broad.mit.edu	37	19	11493829	11493829	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11493829C>A	uc002mrj.1	-	c.195G>T	c.(193-195)GAG>GAT	p.E65D	EPOR_uc002mrh.2_5'Flank|EPOR_uc002mri.2_De_novo_Start_InFrame|EPOR_uc002mrk.1_De_novo_Start_InFrame|EPOR_uc002mrl.1_Non-coding_Transcript|EPOR_uc010xlx.1_Non-coding_Transcript|EPOR_uc010xly.1_De_novo_Start_InFrame|RGL3_uc002mrn.2_3'UTR|RGL3_uc002mrm.2_3'UTR	NM_000121	NP_000112	P19235	EPOR_HUMAN	erythropoietin receptor precursor	65	Extracellular (Potential).					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			ovary(1)	1					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)									0.328571	62.999135	64.824107	23	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11493829	11493829	5382	19	C	A	A	A	311	24	EPOR	2	2
CCDC151	115948	broad.mit.edu	37	19	11541569	11541569	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:11541569T>A	uc002mrs.2	-	c.394A>T	c.(394-396)ATT>TTT	p.I132F	CCDC151_uc002mrr.2_Missense_Mutation_p.I67F|CCDC151_uc010dxz.2_Intron	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	132	Potential.									ovary(1)	1														0.9375	252.462699	263.130942	75	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11541569	11541569	2906	19	T	A	A	A	650	50	CCDC151	3	3
CACNA1A	773	broad.mit.edu	37	19	13419011	13419011	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13419011G>T	uc002mwy.3	-	c.1836C>A	c.(1834-1836)TCC>TCA	p.S612S	CACNA1A_uc010dzc.2_Silent_p.S138S|CACNA1A_uc010dze.2_Silent_p.S613S|CACNA1A_uc010xne.1_Silent_p.S138S	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 4	613	Cytoplasmic (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)									0.980769	187.040099	188.476717	51	1	KEEP	---	---	---	---	capture		Silent	SNP	13419011	13419011	2654	19	G	T	T	T	600	47	CACNA1A	2	2
CD97	976	broad.mit.edu	37	19	14515372	14515372	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14515372G>A	uc002myl.2	+	c.1627G>A	c.(1627-1629)GAG>AAG	p.E543K	CD97_uc002mym.2_Missense_Mutation_p.E494K|CD97_uc002myn.2_Missense_Mutation_p.E450K	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	543	Extracellular (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(2)|breast(1)	3														0.25	15.338478	16.70194	6	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14515372	14515372	3177	19	G	A	A	A	533	41	CD97	2	2
OR7C1	26664	broad.mit.edu	37	19	14910548	14910548	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14910548A>C	uc010xnz.1	-	c.401T>G	c.(400-402)GTC>GGC	p.V134G		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	134	Cytoplasmic (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.295181	143.320921	149.544537	49	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14910548	14910548	11628	19	A	C	C	C	130	10	OR7C1	4	4
OR7A5	26659	broad.mit.edu	37	19	14938364	14938364	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14938364T>C	uc002mzw.2	-	c.690A>G	c.(688-690)TCA>TCG	p.S230S	OR7A5_uc010xoa.1_Silent_p.S230S	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1														0.296651	160.536626	168.286958	62	147	KEEP	---	---	---	---	capture		Silent	SNP	14938364	14938364	11627	19	T	C	C	C	704	55	OR7A5	4	4
CCDC105	126402	broad.mit.edu	37	19	15131385	15131385	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15131385C>A	uc002nae.2	+	c.788C>A	c.(787-789)TCA>TAA	p.S263*		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	263					microtubule cytoskeleton organization	microtubule				ovary(1)	1														0.963636	186.116165	190.242593	53	2	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	15131385	15131385	2860	19	C	A	A	A	377	29	CCDC105	5	2
OR1I1	126370	broad.mit.edu	37	19	15198808	15198808	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15198808C>T	uc010xoe.1	+	c.932C>T	c.(931-933)CCC>CTC	p.P311L		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I,	311	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3														0.69697	72.234063	73.375667	23	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15198808	15198808	11364	19	C	T	T	T	286	22	OR1I1	2	2
CYP4F3	4051	broad.mit.edu	37	19	15760797	15760797	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15760797T>A	uc002nbj.2	+	c.722T>A	c.(721-723)CTG>CAG	p.L241Q	CYP4F3_uc010xok.1_Missense_Mutation_p.L241Q|CYP4F3_uc010xol.1_Missense_Mutation_p.L241Q|CYP4F3_uc010xom.1_Missense_Mutation_p.L92Q|CYP4F3_uc002nbk.2_Missense_Mutation_p.L241Q|CYP4F3_uc010xon.1_5'UTR	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	241					leukotriene metabolic process|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			ovary(3)	3														0.613084	1098.907329	1104.904272	328	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15760797	15760797	4355	19	T	A	A	A	715	55	CYP4F3	3	3
OR10H2	26538	broad.mit.edu	37	19	15839235	15839235	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15839235C>G	uc002nbm.2	+	c.382C>G	c.(382-384)CAC>GAC	p.H128D		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)													0.347458	99.751035	102.261456	41	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15839235	15839235	11312	19	C	G	G	G	273	21	OR10H2	3	3
OR10H5	284433	broad.mit.edu	37	19	15905496	15905496	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:15905496T>G	uc010xos.1	+	c.638T>G	c.(637-639)CTC>CGC	p.L213R		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.286957	84.006236	88.706421	33	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15905496	15905496	11315	19	T	G	G	G	702	54	OR10H5	4	4
CYP4F11	57834	broad.mit.edu	37	19	16025117	16025117	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16025117G>A	uc002nbu.2	-	c.1395C>T	c.(1393-1395)CCC>CCT	p.P465P	CYP4F11_uc010eab.1_Nonsense_Mutation_p.Q444*|CYP4F11_uc002nbt.2_Silent_p.P465P	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	465					inflammatory response|oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1														0.105155	44.775819	119.943265	51	434	KEEP	---	---	---	---	capture		Silent	SNP	16025117	16025117	4351	19	G	A	A	A	600	47	CYP4F11	2	2
OR10H4	126541	broad.mit.edu	37	19	16059890	16059890	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16059890C>T	uc010xov.1	+	c.73C>T	c.(73-75)CTG>TTG	p.L25L		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2														0.341853	325.230092	332.147272	107	206	KEEP	---	---	---	---	capture		Silent	SNP	16059890	16059890	11314	19	C	T	T	T	311	24	OR10H4	2	2
HSH2D	84941	broad.mit.edu	37	19	16263858	16263858	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16263858A>G	uc002ndp.3	+	c.221A>G	c.(220-222)CAA>CGA	p.Q74R	HSH2D_uc002ndr.2_Missense_Mutation_p.Q17R|HSH2D_uc010ead.2_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	74	SH2.					cytoplasm|nucleus					0														0.384615	12.870934	13.022966	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16263858	16263858	7699	19	A	G	G	G	65	5	HSH2D	4	4
NWD1	284434	broad.mit.edu	37	19	16899933	16899933	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:16899933G>A	uc002net.3	+	c.2467G>A	c.(2467-2469)GAA>AAA	p.E823K	NWD1_uc002neu.3_Missense_Mutation_p.E958K|NWD1_uc002nev.3_Missense_Mutation_p.E752K	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	958	WD 4.						ATP binding			ovary(2)|pancreas(2)	4														0.226667	39.33422	44.480119	17	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16899933	16899933	11186	19	G	A	A	A	585	45	NWD1	2	2
CPAMD8	27151	broad.mit.edu	37	19	17039981	17039981	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17039981C>T	uc002nfb.2	-	c.3056G>A	c.(3055-3057)CGC>CAC	p.R1019H		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	972						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)	12										1067				0.349206	56.702568	57.97907	22	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17039981	17039981	3933	19	C	T	T	T	351	27	CPAMD8	1	1
CPAMD8	27151	broad.mit.edu	37	19	17057974	17057974	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17057974C>A	uc002nfb.2	-	c.2713G>T	c.(2713-2715)GTG>TTG	p.V905L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	858						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)	12										1067				0.244635	281.149024	308.924161	114	352	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17057974	17057974	3933	19	C	A	A	A	221	17	CPAMD8	2	2
UNC13A	23025	broad.mit.edu	37	19	17756509	17756509	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17756509C>A	uc002nhd.2	-	c.2594G>T	c.(2593-2595)GGC>GTC	p.G865V		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	777					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3														0.421687	102.643659	103.079154	35	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17756509	17756509	17542	19	C	A	A	A	338	26	UNC13A	2	2
SLC5A5	6528	broad.mit.edu	37	19	17988772	17988772	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:17988772G>T	uc002nhr.3	+	c.840_splice	c.e7-1	p.L280_splice		NM_000453	NP_000444			solute carrier family 5 (sodium iodide						cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			ovary(1)|central_nervous_system(1)	2						Melanoma(65;1008 1708 7910 46650)								0.23913	21.268875	24.169415	11	35	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	17988772	17988772	15165	19	G	T	T	T	455	35	SLC5A5	5	2
MAST3	23031	broad.mit.edu	37	19	18254702	18254703	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18254702_18254703GG>TT	uc002nhz.3	+	c.2382_2383GG>TT	c.(2380-2385)GAGGAT>GATTAT	p.794_795ED>DY		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	794_795					protein phosphorylation		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)	4										374				0.666667	53.907226	54.49731	16	8	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	18254702	18254703	9710	19	GG	TT	TT	TT	451	35	MAST3	2	2
MAST3	23031	broad.mit.edu	37	19	18255377	18255377	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18255377G>T	uc002nhz.3	+	c.2599G>T	c.(2599-2601)GGG>TGG	p.G867W		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	867					protein phosphorylation		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)	4										374				0.241379	16.210692	17.980433	7	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18255377	18255377	9710	19	G	T	T	T	611	47	MAST3	2	2
GDF15	9518	broad.mit.edu	37	19	18497006	18497006	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:18497006G>T	uc002niv.2	+	c.7G>T	c.(7-9)GGG>TGG	p.G3W		NM_004864	NP_004855	Q99988	GDF15_HUMAN	growth differentiation factor 15	3					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)	1														0.318182	40.645331	41.932436	14	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18497006	18497006	6581	19	G	T	T	T	507	39	GDF15	1	1
SCAMP4	113178	broad.mit.edu	37	19	1917810	1917810	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1917810G>T	uc002luj.2	+	c.125G>T	c.(124-126)CGG>CTG	p.R42L	SCAMP4_uc002lui.1_Missense_Mutation_p.R42L|SCAMP4_uc002luk.2_Missense_Mutation_p.R42L|SCAMP4_uc010dss.2_5'UTR	NM_079834	NP_524558	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	42	Helical; (Potential).				protein transport	integral to membrane					0		Ovarian(11;2.11e-07)|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)										0.88	152.032657	159.118877	44	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1917810	1917810	14354	19	G	T	T	T	507	39	SCAMP4	1	1
NCAN	1463	broad.mit.edu	37	19	19339016	19339016	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19339016G>T	uc002nlz.2	+	c.2587G>T	c.(2587-2589)GTG>TTG	p.V863L	NCAN_uc010ecc.1_Missense_Mutation_p.V427L	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	863					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)											0.483871	135.670542	135.691345	45	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19339016	19339016	10603	19	G	T	T	T	572	44	NCAN	2	2
HAPLN4	404037	broad.mit.edu	37	19	19371794	19371794	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19371794G>T	uc002nmb.2	-	c.312C>A	c.(310-312)CCC>CCA	p.P104P	HAPLN4_uc002nmc.2_Silent_p.P104P	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	104	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			pancreas(1)	1			Epithelial(12;0.00575)											0.28169	48.357536	51.408302	20	51	KEEP	---	---	---	---	capture		Silent	SNP	19371794	19371794	7239	19	G	T	T	T	548	43	HAPLN4	2	2
PBX4	80714	broad.mit.edu	37	19	19680275	19680275	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19680275C>A	uc002nmy.2	-	c.751G>T	c.(751-753)GGC>TGC	p.G251C	PBX4_uc010xqz.1_Non-coding_Transcript|PBX4_uc010xra.1_Missense_Mutation_p.G86C	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	251	Homeobox; TALE-type.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			large_intestine(1)|ovary(1)	2														0.218978	68.139266	78.069247	30	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19680275	19680275	11915	19	C	A	A	A	299	23	PBX4	1	1
ATP13A1	57130	broad.mit.edu	37	19	19770477	19770477	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19770477G>A	uc002nnh.3	-	c.610C>T	c.(610-612)CAG>TAG	p.Q204*	ATP13A1_uc002nng.2_Nonsense_Mutation_p.Q86*	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	204	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						Esophageal Squamous(142;920 1789 9047 14684 24777)								0.1	4.820387	19.199942	9	81	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	19770477	19770477	1142	19	G	A	A	A	585	45	ATP13A1	5	2
ATP13A1	57130	broad.mit.edu	37	19	19770519	19770519	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19770519G>C	uc002nnh.3	-	c.568C>G	c.(568-570)CTC>GTC	p.L190V	ATP13A1_uc002nng.2_Missense_Mutation_p.L72V	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	190	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						Esophageal Squamous(142;920 1789 9047 14684 24777)								0.097561	8.059276	21.337299	8	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19770519	19770519	1142	19	G	C	C	C	429	33	ATP13A1	3	3
ATP13A1	57130	broad.mit.edu	37	19	19770556	19770556	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19770556G>C	uc002nnh.3	-	c.531C>G	c.(529-531)ATC>ATG	p.I177M	ATP13A1_uc002nng.2_Missense_Mutation_p.I59M	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	177	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						Esophageal Squamous(142;920 1789 9047 14684 24777)								0.106061	7.676964	17.854184	7	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19770556	19770556	1142	19	G	C	C	C	577	45	ATP13A1	3	3
ZNF101	94039	broad.mit.edu	37	19	19790269	19790269	+	Silent	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19790269A>C	uc002nni.1	+	c.471A>C	c.(469-471)GCA>GCC	p.A157A	ZNF101_uc010ecg.1_Silent_p.A37A|ZNF101_uc002nnj.1_Silent_p.A37A	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.192727	121.729618	145.961481	53	222	KEEP	---	---	---	---	capture		Silent	SNP	19790269	19790269	18305	19	A	C	C	C	67	6	ZNF101	4	4
ZNF14	7561	broad.mit.edu	37	19	19824950	19824950	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19824950C>A	uc002nnk.1	-	c.141G>T	c.(139-141)TGG>TGT	p.W47C		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)												0.72549	234.882638	239.559512	74	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19824950	19824950	18319	19	C	A	A	A	286	22	ZNF14	2	2
AP3D1	8943	broad.mit.edu	37	19	2115419	2115419	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2115419T>A	uc002lva.2	-	c.2150_splice	c.e20-1	p.G717_splice	AP3D1_uc002luy.2_Splice_Site_SNP_p.G626_splice|AP3D1_uc002luz.2_Splice_Site_SNP_p.G717_splice	NM_003938	NP_003929			adaptor-related protein complex 3, delta 1						eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity				0		Hepatocellular(1079;0.137)		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)										0.7	24.128842	24.486241	7	3	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	2115419	2115419	756	19	T	A	A	A	715	55	AP3D1	5	3
ZNF430	80264	broad.mit.edu	37	19	21239530	21239530	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21239530G>C	uc002npj.2	+	c.416G>C	c.(415-417)GGA>GCA	p.G139A	ZNF430_uc002npk.2_Missense_Mutation_p.G138A	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.743243	201.060482	205.031016	55	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21239530	21239530	18497	19	G	C	C	C	533	41	ZNF430	3	3
ZNF208	7757	broad.mit.edu	37	19	22155237	22155237	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22155237C>A	uc002nqp.2	-	c.2299G>T	c.(2299-2301)GGC>TGC	p.G767C	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)												0.616766	336.255604	338.250508	103	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22155237	22155237	18357	19	C	A	A	A	273	21	ZNF208	2	2
ZNF208	7757	broad.mit.edu	37	19	22156942	22156942	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22156942C>G	uc002nqp.2	-	c.894G>C	c.(892-894)TCG>TCC	p.S298S	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)												0.478788	264.026501	264.09005	79	86	KEEP	---	---	---	---	capture		Silent	SNP	22156942	22156942	18357	19	C	G	G	G	392	31	ZNF208	3	3
ZNF676	163223	broad.mit.edu	37	19	22363682	22363682	+	Missense_Mutation	SNP	C	A	A	rs11671496		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22363682C>A	uc002nqs.1	-	c.837G>T	c.(835-837)AAG>AAT	p.K279N		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)												0.222222	87.357295	99.497512	38	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22363682	22363682	18678	19	C	A	A	A	363	28	ZNF676	2	2
ZNF98	148198	broad.mit.edu	37	19	22575654	22575654	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22575654C>A	uc002nqt.2	-	c.383G>T	c.(382-384)AGC>ATC	p.S128I		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)												0.225	42.952482	48.479802	18	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22575654	22575654	18807	19	C	A	A	A	364	28	ZNF98	2	2
ZNF492	57615	broad.mit.edu	37	19	22847837	22847837	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22847837A>T	uc002nqw.3	+	c.1366A>T	c.(1366-1368)AAA>TAA	p.K456*		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	zinc finger protein 492	456	C2H2-type 12; degenerate.				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)												0.195489	57.98808	69.47507	26	107	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22847837	22847837	18537	19	A	T	T	T	65	5	ZNF492	5	3
ZNF99	7652	broad.mit.edu	37	19	22939747	22939747	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22939747C>A	uc010xrh.1	-	c.2584G>T	c.(2584-2586)GAA>TAA	p.E862*		NM_001080409	NP_001073878	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	862	C2H2-type 25.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)												0.228814	61.558289	69.52236	27	91	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	22939747	22939747	18808	19	C	A	A	A	416	32	ZNF99	5	2
ZNF99	7652	broad.mit.edu	37	19	22940569	22940569	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22940569A>G	uc010xrh.1	-	c.1869T>C	c.(1867-1869)TTT>TTC	p.F623F		NM_001080409	NP_001073878	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	623	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)												0.178378	78.966811	96.976167	33	152	KEEP	---	---	---	---	capture		Silent	SNP	22940569	22940569	18808	19	A	G	G	G	167	13	ZNF99	4	4
ZNF99	7652	broad.mit.edu	37	19	22941809	22941809	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22941809G>A	uc010xrh.1	-	c.629C>T	c.(628-630)ACT>ATT	p.T210I		NM_001080409	NP_001073878	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	210	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)												0.098485	9.586099	30.86704	13	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22941809	22941809	18808	19	G	A	A	A	468	36	ZNF99	2	2
ZNF91	7644	broad.mit.edu	37	19	23545398	23545398	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:23545398C>A	uc002nre.2	-	c.383G>T	c.(382-384)AGT>ATT	p.S128I	ZNF91_uc010xrj.1_Missense_Mutation_p.S96I	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	128					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)												0.616216	369.48176	371.669874	114	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23545398	23545398	18804	19	C	A	A	A	260	20	ZNF91	2	2
ZNF675	171392	broad.mit.edu	37	19	23836621	23836621	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:23836621C>A	uc002nri.2	-	c.1114G>T	c.(1114-1116)GAA>TAA	p.E372*		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	372	C2H2-type 9.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|transcription repressor activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)												0.272727	68.938179	74.113291	30	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23836621	23836621	18677	19	C	A	A	A	390	30	ZNF675	5	2
TMPRSS9	360200	broad.mit.edu	37	19	2408556	2408556	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2408556G>A	uc010xgx.1	+	c.943G>A	c.(943-945)GCT>ACT	p.A315T	TMPRSS9_uc002lvv.1_Missense_Mutation_p.A349T	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	315	Extracellular (Potential).|Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)										0.272727	29.231753	31.249602	12	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2408556	2408556	16794	19	G	A	A	A	546	42	TMPRSS9	2	2
PPAP2C	8612	broad.mit.edu	37	19	282141	282141	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:282141G>A	uc002loh.2	-	c.773C>T	c.(772-774)GCC>GTC	p.A258V	PPAP2C_uc002loi.2_Missense_Mutation_p.A237V|PPAP2C_uc002loj.2_Missense_Mutation_p.A181V	NM_177543	NP_808211	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C isoform 3	237	Helical; (Potential).				sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)										0.538462	41.347767	41.38101	14	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	282141	282141	12722	19	G	A	A	A	546	42	PPAP2C	2	2
ZNF556	80032	broad.mit.edu	37	19	2877559	2877559	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:2877559A>C	uc002lwp.1	+	c.603A>C	c.(601-603)AAA>AAC	p.K201N	ZNF556_uc002lwq.2_Missense_Mutation_p.K200N	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				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)										0.065934	-3.109355	14.66384	6	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2877559	2877559	18582	19	A	C	C	C	24	2	ZNF556	4	4
ZNF536	9745	broad.mit.edu	37	19	30935452	30935452	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30935452C>T	uc002nsu.1	+	c.983C>T	c.(982-984)TCG>TTG	p.S328L	ZNF536_uc010edd.1_Missense_Mutation_p.S328L	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.384615	268.759966	271.642298	95	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30935452	30935452	18568	19	C	T	T	T	403	31	ZNF536	1	1
TSHZ3	57616	broad.mit.edu	37	19	31768309	31768309	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31768309C>A	uc002nsy.3	-	c.2390G>T	c.(2389-2391)AGT>ATT	p.S797I		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	797					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)													0.403509	134.852616	135.772307	46	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31768309	31768309	17176	19	C	A	A	A	260	20	TSHZ3	2	2
DPY19L3	147991	broad.mit.edu	37	19	32945898	32945898	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:32945898T>G	uc002ntg.2	+	c.1041T>G	c.(1039-1041)CAT>CAG	p.H347Q	DPY19L3_uc002nth.1_Missense_Mutation_p.H347Q|DPY19L3_uc002nti.1_Non-coding_Transcript	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	347	Helical; (Potential).					integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)													0.239234	134.248692	147.221437	50	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32945898	32945898	4926	19	T	G	G	G	673	52	DPY19L3	4	4
DPY19L3	147991	broad.mit.edu	37	19	32971438	32971438	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:32971438A>G	uc002ntg.2	+	c.1964A>G	c.(1963-1965)GAC>GGC	p.D655G	DPY19L3_uc002nth.1_Missense_Mutation_p.D655G|DPY19L3_uc002nti.1_Non-coding_Transcript|DPY19L3_uc002ntj.1_Missense_Mutation_p.D77G	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	655						integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)													0.2	13.521283	16.444692	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32971438	32971438	4926	19	A	G	G	G	130	10	DPY19L3	4	4
RHPN2	85415	broad.mit.edu	37	19	33493842	33493842	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33493842C>T	uc002nuf.2	-	c.825G>A	c.(823-825)ATG>ATA	p.M275I	RHPN2_uc010xro.1_Missense_Mutation_p.M124I|RHPN2_uc002nue.2_Missense_Mutation_p.M5I	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	275	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)									600				0.185567	35.787712	44.782634	18	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33493842	33493842	13826	19	C	T	T	T	325	25	RHPN2	2	2
WDR88	126248	broad.mit.edu	37	19	33628604	33628604	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:33628604G>T	uc002nui.2	+	c.298G>T	c.(298-300)GGG>TGG	p.G100W		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	100	WD 1.									ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)													0.141304	21.00873	32.431936	13	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33628604	33628604	17909	19	G	T	T	T	611	47	WDR88	2	2
LSM14A	26065	broad.mit.edu	37	19	34706522	34706522	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:34706522G>T	uc002nvb.3	+	c.737G>T	c.(736-738)AGG>ATG	p.R246M	LSM14A_uc002nva.3_Missense_Mutation_p.R246M|LSM14A_uc010xru.1_Missense_Mutation_p.R205M|LSM14A_uc002nvc.3_Missense_Mutation_p.R52M	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	246					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule					0	Esophageal squamous(110;0.162)													0.314554	185.744473	192.263913	67	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34706522	34706522	9430	19	G	T	T	T	455	35	LSM14A	2	2
KIAA0355	9710	broad.mit.edu	37	19	34832328	34832328	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:34832328G>T	uc002nvd.3	+	c.1489G>T	c.(1489-1491)GAG>TAG	p.E497*		NM_014686	NP_055501	O15063	K0355_HUMAN	hypothetical protein LOC9710	497										ovary(1)	1	Esophageal squamous(110;0.162)													0.17033	50.398319	69.135633	31	151	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	34832328	34832328	8477	19	G	T	T	T	533	41	KIAA0355	5	2
SBSN	374897	broad.mit.edu	37	19	36018907	36018907	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36018907C>A	uc002oad.1	-	c.277G>T	c.(277-279)GGC>TGC	p.G93C	SBSN_uc002oae.1_Missense_Mutation_p.G93C	NM_198538	NM_198538	Q6UWP8	SBSN_HUMAN	suprabasin isoform 2 precursor	93	Ala/Gly/His-rich.					extracellular region				ovary(1)	1	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)											0.206612	58.595834	68.270257	25	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36018907	36018907	14345	19	C	A	A	A	299	23	SBSN	1	1
ARHGAP33	115703	broad.mit.edu	37	19	36276318	36276318	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36276318A>C	uc002obs.1	+	c.1875A>C	c.(1873-1875)AGA>AGC	p.R625S	ARHGAP33_uc002obr.1_Missense_Mutation_p.R625S|ARHGAP33_uc002obt.1_Missense_Mutation_p.R489S|ARHGAP33_uc010eel.2_Missense_Mutation_p.R213S|ARHGAP33_uc002obv.1_Missense_Mutation_p.R213S	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	625					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3														0.152778	61.500046	95.262314	44	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36276318	36276318	894	19	A	C	C	C	128	10	ARHGAP33	4	4
NPHS1	4868	broad.mit.edu	37	19	36333144	36333144	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36333144C>G	uc002oby.2	-	c.2545G>C	c.(2545-2547)GTG>CTG	p.V849L	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	849	Ig-like C2-type 8.|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)											0.166667	20.242826	25.929346	9	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36333144	36333144	10986	19	C	G	G	G	234	18	NPHS1	3	3
KIRREL2	84063	broad.mit.edu	37	19	36353436	36353436	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36353436G>T	uc002ocb.3	+	c.1552G>T	c.(1552-1554)GCC>TCC	p.A518S	KIRREL2_uc002obz.3_Missense_Mutation_p.A518S|KIRREL2_uc002oca.3_Missense_Mutation_p.A468S|KIRREL2_uc002occ.3_Missense_Mutation_p.A465S|KIRREL2_uc002ocd.3_Intron	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	518	Helical; (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)											0.487179	165.52041	165.533583	57	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36353436	36353436	8637	19	G	T	T	T	598	46	KIRREL2	2	2
WDR62	284403	broad.mit.edu	37	19	36590381	36590381	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36590381G>T	uc002odd.2	+	c.2601G>T	c.(2599-2601)CGG>CGT	p.R867R	WDR62_uc002odc.2_Silent_p.R867R	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 1	867					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)											0.431373	184.650828	185.272345	66	87	KEEP	---	---	---	---	capture		Silent	SNP	36590381	36590381	17886	19	G	T	T	T	548	43	WDR62	2	2
ZNF527	84503	broad.mit.edu	37	19	37880419	37880419	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37880419A>G	uc010efk.1	+	c.1468A>G	c.(1468-1470)AGA>GGA	p.R490G	ZNF527_uc002ogf.3_Missense_Mutation_p.R458G|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	490	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.314136	180.533048	186.403261	60	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37880419	37880419	18562	19	A	G	G	G	192	15	ZNF527	4	4
ZFP30	22835	broad.mit.edu	37	19	38126701	38126701	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38126701A>G	uc002ogv.1	-	c.741T>C	c.(739-741)TGT>TGC	p.C247C	ZFP30_uc002ogw.1_Silent_p.C247C|ZFP30_uc002ogx.1_Silent_p.C247C|ZFP30_uc010xtt.1_Silent_p.C246C	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	zinc finger protein 30 homolog	247	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.584906	194.760885	195.427511	62	44	KEEP	---	---	---	---	capture		Silent	SNP	38126701	38126701	18232	19	A	G	G	G	76	6	ZFP30	4	4
CATSPERG	57828	broad.mit.edu	37	19	38857880	38857880	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38857880C>A	uc002oih.3	+	c.2698C>A	c.(2698-2700)CGC>AGC	p.R900S	CATSPERG_uc002oig.3_Missense_Mutation_p.R860S|CATSPERG_uc002oif.3_Missense_Mutation_p.R540S|CATSPERG_uc010efw.2_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	900	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)	1														0.567901	151.757288	152.082569	46	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38857880	38857880	2811	19	C	A	A	A	299	23	CATSPERG	1	1
GGN	199720	broad.mit.edu	37	19	38877024	38877024	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38877024G>T	uc002oij.1	-	c.878C>A	c.(877-879)CCC>CAC	p.P293H	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.P210H	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	293	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)											0.35	19.118699	19.515844	7	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38877024	38877024	6626	19	G	T	T	T	559	43	GGN	2	2
RYR1	6261	broad.mit.edu	37	19	38960104	38960104	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38960104A>C	uc002oit.2	+	c.3716A>C	c.(3715-3717)AAA>ACA	p.K1239T	RYR1_uc002oiu.2_Missense_Mutation_p.K1239T	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1239	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.295276	214.402093	223.943058	75	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38960104	38960104	14248	19	A	C	C	C	13	1	RYR1	4	4
RYR1	6261	broad.mit.edu	37	19	38980058	38980058	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:38980058A>G	uc002oit.2	+	c.5789A>G	c.(5788-5790)AAG>AGG	p.K1930R	RYR1_uc002oiu.2_Missense_Mutation_p.K1930R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1930	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)									0.670455	202.544004	204.807229	59	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38980058	38980058	14248	19	A	G	G	G	39	3	RYR1	4	4
RYR1	6261	broad.mit.edu	37	19	39018332	39018332	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39018332G>A	uc002oit.2	+	c.10732G>A	c.(10732-10734)GGC>AGC	p.G3578S	RYR1_uc002oiu.2_Missense_Mutation_p.G3573S|RYR1_uc002oiv.1_Missense_Mutation_p.G493S|RYR1_uc010xuf.1_Missense_Mutation_p.G498S	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3578					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)									0.368421	41.156863	41.728198	14	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39018332	39018332	14248	19	G	A	A	A	559	43	RYR1	2	2
LRFN1	57622	broad.mit.edu	37	19	39805629	39805629	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39805629C>A	uc002okw.2	-	c.348G>T	c.(346-348)CGG>CGT	p.R116R		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	116	LRR 3.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)											0.764706	39.572493	40.663825	13	4	KEEP	---	---	---	---	capture		Silent	SNP	39805629	39805629	9310	19	C	A	A	A	275	22	LRFN1	2	2
PLEKHG2	64857	broad.mit.edu	37	19	39914598	39914598	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39914598G>A	uc010xuz.1	+	c.2825G>A	c.(2824-2826)GGA>GAA	p.G942E	PLEKHG2_uc010xuy.1_Missense_Mutation_p.G883E|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.G720E	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	common-site lymphoma/leukemia guanine nucleotide	942					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			pancreas(1)|breast(1)|skin(1)	3	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)											0.601626	227.876666	228.975041	74	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39914598	39914598	12495	19	G	A	A	A	533	41	PLEKHG2	2	2
SUPT5H	6829	broad.mit.edu	37	19	39962317	39962317	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39962317G>T	uc002olo.3	+	c.1897G>T	c.(1897-1899)GGG>TGG	p.G633W	SUPT5H_uc002olp.3_Missense_Mutation_p.G633W|SUPT5H_uc002olq.3_Missense_Mutation_p.G629W|SUPT5H_uc002oln.3_Missense_Mutation_p.G633W|SUPT5H_uc002olr.3_Missense_Mutation_p.G633W|SUPT5H_uc002ols.1_Missense_Mutation_p.G256W|SUPT5H_uc010egp.1_5'UTR	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	633					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|negative transcription elongation factor activity|positive transcription elongation factor activity|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)											0.873418	237.390765	248.126568	69	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39962317	39962317	15919	19	G	T	T	T	507	39	SUPT5H	1	1
SPTBN4	57731	broad.mit.edu	37	19	41040047	41040047	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41040047G>T	uc002ony.2	+	c.4156G>T	c.(4156-4158)GGC>TGC	p.G1386C	SPTBN4_uc002onx.2_Missense_Mutation_p.G1386C|SPTBN4_uc002onz.2_Missense_Mutation_p.G1386C|SPTBN4_uc010egx.2_Missense_Mutation_p.G129C|SPTBN4_uc010egy.1_Missense_Mutation_p.G62C|SPTBN4_uc002ooa.2_Missense_Mutation_p.G62C|SPTBN4_uc010egz.1_Missense_Mutation_p.G62C	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1386	Spectrin 11.				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)											0.608696	35.259423	35.479626	14	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41040047	41040047	15635	19	G	T	T	T	559	43	SPTBN4	2	2
SPTBN4	57731	broad.mit.edu	37	19	41071434	41071434	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41071434T>A	uc002ony.2	+	c.6021T>A	c.(6019-6021)TCT>TCA	p.S2007S	SPTBN4_uc002onz.2_Silent_p.S2007S|SPTBN4_uc010egx.2_Silent_p.S750S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2007	Spectrin 17.				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)											0.969697	106.16532	107.89919	32	1	KEEP	---	---	---	---	capture		Silent	SNP	41071434	41071434	15635	19	T	A	A	A	691	54	SPTBN4	3	3
CYP2A6	1548	broad.mit.edu	37	19	41356192	41356192	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:41356192A>G	uc002opl.3	-	c.140T>C	c.(139-141)CTG>CCG	p.L47P	CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_Non-coding_Transcript	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	47					coumarin catabolic process|exogenous drug catabolic process|oxidation-reduction process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)									0.94864	1061.465541	1097.090911	314	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41356192	41356192	4327	19	A	G	G	G	91	7	CYP2A6	4	4
SHD	56961	broad.mit.edu	37	19	4283231	4283231	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4283231C>A	uc002lzw.2	+	c.584C>A	c.(583-585)GCG>GAG	p.A195E	SHD_uc010dtu.2_Missense_Mutation_p.A195E	NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming	195											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)										1	111.526708	111.526708	29	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4283231	4283231	14767	19	C	A	A	A	351	27	SHD	1	1
PSG3	5671	broad.mit.edu	37	19	43242948	43242948	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43242948A>G	uc010eil.2	-	c.424T>C	c.(424-426)TAC>CAC	p.Y142H	PSG3_uc002ouf.2_Non-coding_Transcript|PSG1_uc002oug.1_Intron|PSG3_uc002oue.2_Missense_Mutation_p.Y120H	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	120	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.218468	499.027128	563.86779	194	694	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43242948	43242948	13109	19	A	G	G	G	195	15	PSG3	4	4
PSG8	440533	broad.mit.edu	37	19	43268390	43268390	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43268390G>C	uc002ouo.2	-	c.108C>G	c.(106-108)GTC>GTG	p.V36V	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Intron|PSG8_uc002ouh.2_Silent_p.V36V|PSG8_uc010ein.2_Intron|PSG8_uc002ouj.3_5'UTR|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Silent_p.V36V|PSG8_uc002oum.3_Silent_p.V36V|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Silent_p.V36V	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	36	Ig-like V-type.					extracellular region					0		Prostate(69;0.00899)												0.677358	1283.330358	1298.170387	359	171	KEEP	---	---	---	---	capture		Silent	SNP	43268390	43268390	13114	19	G	C	C	C	574	45	PSG8	3	3
PSG7	5676	broad.mit.edu	37	19	43433783	43433783	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43433783G>C	uc002ovl.3	-	c.520C>G	c.(520-522)CCA>GCA	p.P174A	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_5'UTR|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.P52A	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	174	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.725601	1838.638519	1871.048764	513	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43433783	43433783	13113	19	G	C	C	C	533	41	PSG7	3	3
PSG2	5670	broad.mit.edu	37	19	43575865	43575865	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43575865T>C	uc010eiq.1	-	c.951A>G	c.(949-951)ACA>ACG	p.T317T	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Silent_p.T317T|PSG2_uc002ovq.3_Silent_p.T317T|PSG2_uc002ovs.3_Silent_p.T317T|PSG2_uc002ovt.3_Silent_p.T317T	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	317	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.192661	123.52804	152.405301	63	264	KEEP	---	---	---	---	capture		Silent	SNP	43575865	43575865	13108	19	T	C	C	C	704	55	PSG2	4	4
PSG2	5670	broad.mit.edu	37	19	43575872	43575872	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43575872G>C	uc010eiq.1	-	c.944C>G	c.(943-945)TCG>TGG	p.S315W	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.S315W|PSG2_uc002ovq.3_Missense_Mutation_p.S315W|PSG2_uc002ovs.3_Missense_Mutation_p.S315W|PSG2_uc002ovt.3_Missense_Mutation_p.S315W	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	315	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.922581	1048.787888	1100.505037	286	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43575872	43575872	13108	19	G	C	C	C	481	37	PSG2	3	3
PSG9	5678	broad.mit.edu	37	19	43762557	43762557	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43762557C>T	uc002owd.3	-	c.1040G>A	c.(1039-1041)GGA>GAA	p.G347E	PSG9_uc002owe.3_Missense_Mutation_p.G254E|PSG9_uc010xwm.1_Missense_Mutation_p.G254E|PSG9_uc002owf.3_Missense_Mutation_p.G161E|PSG9_uc002owg.2_Missense_Mutation_p.G254E|PSG9_uc002owh.2_Missense_Mutation_p.G161E	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	347	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.882129	759.599008	797.317078	232	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43762557	43762557	13115	19	C	T	T	T	390	30	PSG9	2	2
PSG9	5678	broad.mit.edu	37	19	43762590	43762590	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43762590C>T	uc002owd.3	-	c.1007G>A	c.(1006-1008)AGA>AAA	p.R336K	PSG9_uc002owe.3_Missense_Mutation_p.R243K|PSG9_uc010xwm.1_Missense_Mutation_p.R243K|PSG9_uc002owf.3_Missense_Mutation_p.R150K|PSG9_uc002owg.2_Missense_Mutation_p.R243K|PSG9_uc002owh.2_Missense_Mutation_p.R150K	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	336	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.876812	805.440916	843.740238	242	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43762590	43762590	13115	19	C	T	T	T	416	32	PSG9	2	2
PSG9	5678	broad.mit.edu	37	19	43762592	43762592	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43762592G>T	uc002owd.3	-	c.1005C>A	c.(1003-1005)CCC>CCA	p.P335P	PSG9_uc002owe.3_Silent_p.P242P|PSG9_uc010xwm.1_Silent_p.P242P|PSG9_uc002owf.3_Silent_p.P149P|PSG9_uc002owg.2_Silent_p.P242P|PSG9_uc002owh.2_Silent_p.P149P	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	335	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.866906	816.259519	852.681218	241	37	KEEP	---	---	---	---	capture		Silent	SNP	43762592	43762592	13115	19	G	T	T	T	600	47	PSG9	2	2
CEACAM20	125931	broad.mit.edu	37	19	45024771	45024771	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:45024771G>T	uc010ejn.1	-	c.767C>A	c.(766-768)CCT>CAT	p.P256H	CEACAM20_uc010ejo.1_Missense_Mutation_p.P256H|CEACAM20_uc010ejp.1_Missense_Mutation_p.P256H|CEACAM20_uc010ejq.1_Missense_Mutation_p.P256H	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion	256	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane				large_intestine(2)	2		Prostate(69;0.0352)												0.882143	834.49089	874.662638	247	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45024771	45024771	3324	19	G	T	T	T	455	35	CEACAM20	2	2
PNMAL1	55228	broad.mit.edu	37	19	46973479	46973479	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:46973479C>T	uc002peq.3	-	c.814G>A	c.(814-816)GAG>AAG	p.E272K	PNMAL1_uc002per.3_Missense_Mutation_p.E272K	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	272											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)										0.605691	472.588682	474.987594	149	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46973479	46973479	12584	19	C	T	T	T	390	30	PNMAL1	2	2
PTGIR	5739	broad.mit.edu	37	19	47127354	47127354	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47127354C>T	uc002pex.2	-	c.129G>A	c.(127-129)CCG>CCA	p.P43P		NM_000960	NP_000951	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	43	Cytoplasmic (Potential).				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)									0.666667	13.601913	13.749493	4	2	KEEP	---	---	---	---	capture		Silent	SNP	47127354	47127354	13206	19	C	T	T	T	288	23	PTGIR	1	1
DHX34	9704	broad.mit.edu	37	19	47879292	47879292	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47879292G>T	uc010xyn.1	+	c.2419G>T	c.(2419-2421)GGC>TGC	p.G807C	DHX34_uc010xyo.1_5'Flank	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	807						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)	4		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)										0.608696	40.443614	40.679607	14	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47879292	47879292	4686	19	G	T	T	T	559	43	DHX34	2	2
ELSPBP1	64100	broad.mit.edu	37	19	48523048	48523048	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48523048G>T	uc002pht.2	+	c.428G>T	c.(427-429)TGC>TTC	p.C143F		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1 precursor	143	Fibronectin type-II 3.				single fertilization	extracellular region					0		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)										0.28125	71.328767	75.430714	27	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48523048	48523048	5275	19	G	T	T	T	598	46	ELSPBP1	2	2
LMTK3	114783	broad.mit.edu	37	19	49001621	49001621	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49001621C>G	uc002pjk.2	-	c.2792G>C	c.(2791-2793)GGC>GCC	p.G931A		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)					p.G931V(HCT116-Tumor)|p.G931V(HCC78-Tumor)	193				0.466667	19.344858	19.365477	7	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49001621	49001621	9189	19	C	G	G	G	338	26	LMTK3	3	3
PPP1R15A	23645	broad.mit.edu	37	19	49378904	49378904	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49378904C>T	uc002pky.3	+	c.1699C>T	c.(1699-1701)CTG>TTG	p.L567L		NM_014330	NP_055145	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	567	Interaction with SMARCB1.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			lung(1)	1		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)										0.946903	394.355489	408.240705	107	6	KEEP	---	---	---	---	capture		Silent	SNP	49378904	49378904	12798	19	C	T	T	T	311	24	PPP1R15A	2	2
ALDH16A1	126133	broad.mit.edu	37	19	49967889	49967889	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:49967889G>T	uc002pnt.2	+	c.1438G>T	c.(1438-1440)GGG>TGG	p.G480W	ALDH16A1_uc010yar.1_Missense_Mutation_p.G429W|ALDH16A1_uc010yas.1_Missense_Mutation_p.G315W|ALDH16A1_uc010yat.1_Missense_Mutation_p.G317W	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	480					oxidation-reduction process		oxidoreductase activity|protein binding				0		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)										0.862069	163.483313	170.834089	50	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49967889	49967889	491	19	G	T	T	T	559	43	ALDH16A1	2	2
ZNF473	25888	broad.mit.edu	37	19	50549719	50549719	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50549719C>T	uc002prn.2	+	c.2019C>T	c.(2017-2019)CCC>CCT	p.P673P	ZNF473_uc002prm.2_Silent_p.P673P|ZNF473_uc010ybo.1_Silent_p.P661P	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	673					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)										0.55	186.958186	187.180684	55	45	KEEP	---	---	---	---	capture		Silent	SNP	50549719	50549719	18525	19	C	T	T	T	301	24	ZNF473	2	2
LRRC4B	94030	broad.mit.edu	37	19	51021166	51021166	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51021166G>T	uc002pss.2	-	c.1804C>A	c.(1804-1806)CAG>AAG	p.Q602K		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	602	Cytoplasmic (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)										0.677419	67.483291	68.348981	21	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51021166	51021166	9382	19	G	T	T	T	598	46	LRRC4B	2	2
LRRC4B	94030	broad.mit.edu	37	19	51022252	51022252	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51022252G>T	uc002pss.2	-	c.718C>A	c.(718-720)CGG>AGG	p.R240R		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	240	Extracellular (Potential).|LRR 7.					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)										0.666667	52.907961	53.498949	16	8	KEEP	---	---	---	---	capture		Silent	SNP	51022252	51022252	9382	19	G	T	T	T	506	39	LRRC4B	1	1
SHANK1	50944	broad.mit.edu	37	19	51219698	51219698	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51219698G>T	uc002psx.1	-	c.293C>A	c.(292-294)ACG>AAG	p.T98K		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	98					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)										0.423077	66.442001	66.709693	22	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51219698	51219698	14756	19	G	T	T	T	520	40	SHANK1	1	1
GPR32	2854	broad.mit.edu	37	19	51274757	51274757	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51274757T>A	uc010ycf.1	+	c.900T>A	c.(898-900)GCT>GCA	p.A300A		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	300	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)								0.289474	56.940338	59.947261	22	54	KEEP	---	---	---	---	capture		Silent	SNP	51274757	51274757	6963	19	T	A	A	A	678	53	GPR32	3	3
KLK4	9622	broad.mit.edu	37	19	51412525	51412525	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51412525G>T	uc002pua.1	-	c.207C>A	c.(205-207)GCC>GCA	p.A69A	KLK4_uc002pty.1_Silent_p.A20A|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_5'UTR|KLK4_uc002pud.1_5'Flank	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	69	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)										0.342105	159.976144	163.266504	52	100	KEEP	---	---	---	---	capture		Silent	SNP	51412525	51412525	8720	19	G	T	T	T	496	39	KLK4	1	1
KLK5	25818	broad.mit.edu	37	19	51451939	51451939	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51451939G>T	uc002pue.2	-	c.683C>A	c.(682-684)ACC>AAC	p.T228N	KLK5_uc002puf.2_Missense_Mutation_p.T228N|KLK5_uc002pug.2_Missense_Mutation_p.T228N	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	228	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)										0.4	44.785005	45.136364	16	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51451939	51451939	8721	19	G	T	T	T	572	44	KLK5	2	2
SIGLEC7	27036	broad.mit.edu	37	19	51647734	51647734	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51647734T>A	uc002pvv.1	+	c.505T>A	c.(505-507)TCT>ACT	p.S169T	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	169	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)										0.300654	238.410403	249.257304	92	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51647734	51647734	14808	19	T	A	A	A	702	54	SIGLEC7	3	3
CD33	945	broad.mit.edu	37	19	51728727	51728727	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51728727T>C	uc002pwa.2	+	c.291T>C	c.(289-291)AGT>AGC	p.S97S	CD33_uc010eos.1_Silent_p.S97S|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	97	Extracellular (Potential).|Ig-like V-type.				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)									0.28777	243.813015	255.025255	80	198	KEEP	---	---	---	---	capture		Silent	SNP	51728727	51728727	3133	19	T	C	C	C	738	57	CD33	4	4
SIGLEC8	27181	broad.mit.edu	37	19	51961552	51961552	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51961552T>G	uc002pwt.2	-	c.90A>C	c.(88-90)CAA>CAC	p.Q30H	SIGLEC8_uc010yda.1_Missense_Mutation_p.Q30H|SIGLEC8_uc002pwu.2_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.Q30H	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	30	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)										0.065934	-13.131708	22.44472	12	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51961552	51961552	14809	19	T	G	G	G	725	56	SIGLEC8	4	4
SIGLEC12	89858	broad.mit.edu	37	19	52002708	52002708	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52002708G>T	uc002pwx.1	-	c.1071C>A	c.(1069-1071)GTC>GTA	p.V357V	SIGLEC12_uc002pww.1_Silent_p.V239V|SIGLEC12_uc010eoy.1_Silent_p.V84V	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	357	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)	3		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)										0.561798	146.332314	146.625339	50	39	KEEP	---	---	---	---	capture		Silent	SNP	52002708	52002708	14803	19	G	T	T	T	522	41	SIGLEC12	2	2
HAS1	3036	broad.mit.edu	37	19	52222630	52222630	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52222630C>T	uc002pxn.1	-	c.552G>A	c.(550-552)GCG>GCA	p.A184A	HAS1_uc010epc.1_5'Flank|HAS1_uc010epd.1_Silent_p.A142A|HAS1_uc002pxo.1_Silent_p.A177A|HAS1_uc002pxp.1_Silent_p.A176A	NM_001523	NP_001514	Q92839	HAS1_HUMAN	hyaluronan synthase 1	177	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			ovary(1)|pancreas(1)	2		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		NSCLC(132;636 2450 45807 47979)								0.363636	10.797281	10.977093	4	7	KEEP	---	---	---	---	capture		Silent	SNP	52222630	52222630	7243	19	C	T	T	T	288	23	HAS1	1	1
FPR3	2359	broad.mit.edu	37	19	52327466	52327466	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52327466C>A	uc002pxt.1	+	c.465C>A	c.(463-465)GTC>GTA	p.V155V		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	155	Helical; Name=4; (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity				0														0.25618	267.246574	291.237662	114	331	KEEP	---	---	---	---	capture		Silent	SNP	52327466	52327466	6286	19	C	A	A	A	379	30	FPR3	2	2
PTPRS	5802	broad.mit.edu	37	19	5239041	5239041	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5239041C>T	uc002mbv.2	-	c.1738G>A	c.(1738-1740)GTG>ATG	p.V580M	PTPRS_uc002mbu.1_Missense_Mutation_p.V567M|PTPRS_uc010xin.1_Missense_Mutation_p.V567M|PTPRS_uc002mbw.2_Missense_Mutation_p.V567M|PTPRS_uc002mbx.2_Missense_Mutation_p.V571M|PTPRS_uc002mby.2_Missense_Mutation_p.V567M	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	580	Extracellular (Potential).|Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)										0.225352	38.766911	43.683664	16	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5239041	5239041	13269	19	C	T	T	T	247	19	PTPRS	1	1
ZNF611	81856	broad.mit.edu	37	19	53210019	53210019	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53210019G>C	uc002pzz.2	-	c.289C>G	c.(289-291)CAC>GAC	p.H97D	ZNF611_uc010eqc.2_Missense_Mutation_p.H27D|ZNF611_uc010ydo.1_Missense_Mutation_p.H27D|ZNF611_uc010ydr.1_Missense_Mutation_p.H28D|ZNF611_uc010ydp.1_Missense_Mutation_p.H97D|ZNF611_uc010ydq.1_Missense_Mutation_p.H97D|ZNF611_uc002qaa.3_Missense_Mutation_p.H27D	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	97	KRAB.				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)										0.289954	386.859217	404.168894	127	311	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53210019	53210019	18632	19	G	C	C	C	585	45	ZNF611	3	3
ZNF331	55422	broad.mit.edu	37	19	54080202	54080202	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54080202T>G	uc002qbx.1	+	c.388T>G	c.(388-390)TCC>GCC	p.S130A	ZNF331_uc002qby.1_Missense_Mutation_p.S130A|ZNF331_uc002qbz.1_Missense_Mutation_p.S130A|ZNF331_uc002qca.1_Missense_Mutation_p.S130A|ZNF331_uc010eqr.1_Missense_Mutation_p.S130A|ZNF331_uc002qcb.1_Missense_Mutation_p.S130A|ZNF331_uc002qcc.1_Missense_Mutation_p.S130A|ZNF331_uc002qcd.1_Missense_Mutation_p.S130A	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00555)						85				0.271845	78.582587	83.479439	28	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54080202	54080202	18441	19	T	G	G	G	806	62	ZNF331	4	4
NLRP12	91662	broad.mit.edu	37	19	54313028	54313028	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54313028C>A	uc002qcj.3	-	c.1885G>T	c.(1885-1887)GCC>TCC	p.A629S	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qch.3_Missense_Mutation_p.A629S|NLRP12_uc002qci.3_Missense_Mutation_p.A629S|NLRP12_uc002qck.3_Non-coding_Transcript|NLRP12_uc010eqx.2_Missense_Mutation_p.A629S	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	629					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)										0.916667	138.195134	145.961427	44	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54313028	54313028	10877	19	C	A	A	A	338	26	NLRP12	2	2
LILRB5	10990	broad.mit.edu	37	19	54760388	54760388	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54760388A>C	uc002qey.2	-	c.319T>G	c.(319-321)TCA>GCA	p.S107A	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.S107A|LILRB5_uc002qex.2_Missense_Mutation_p.S107A|LILRB5_uc002qez.2_Missense_Mutation_p.S107A|LILRB5_uc002qfa.1_Missense_Mutation_p.S97A|LILRB5_uc010yes.1_Non-coding_Transcript	NM_001081442	NP_001074911	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	107	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)										0.291667	98.37797	103.042645	35	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54760388	54760388	9120	19	A	C	C	C	130	10	LILRB5	4	4
LILRA3	11026	broad.mit.edu	37	19	54802622	54802622	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54802622G>T	uc002qfd.2	-	c.819C>A	c.(817-819)CCC>CCA	p.P273P	LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.P209P	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor,	273	Ig-like C2-type 3.				defense response	extracellular region|plasma membrane	antigen binding|receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)										0.784314	129.620574	133.422402	40	11	KEEP	---	---	---	---	capture		Silent	SNP	54802622	54802622	9112	19	G	T	T	T	548	43	LILRA3	2	2
TTYH1	57348	broad.mit.edu	37	19	54940550	54940550	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54940550C>A	uc002qfr.2	+	c.800C>A	c.(799-801)ACG>AAG	p.T267K	TTYH1_uc010yey.1_Missense_Mutation_p.T316K|TTYH1_uc002qfq.2_Missense_Mutation_p.T267K|TTYH1_uc002qft.2_Missense_Mutation_p.T267K|TTYH1_uc002qfu.1_Missense_Mutation_p.T179K	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	tweety 1 isoform 2	267	Extracellular (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)										0.488889	71.962124	71.96638	22	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54940550	54940550	17294	19	C	A	A	A	247	19	TTYH1	1	1
KIR2DL1	3802	broad.mit.edu	37	19	55286890	55286890	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55286890C>T	uc010erz.1	+	c.644C>T	c.(643-645)CCA>CTA	p.P215L	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Non-coding_Transcript|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc002qhb.1_Missense_Mutation_p.P215L	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	215	Extracellular (Potential).				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		GBM(72;624 1217 3963 34152 38303)								0.582022	837.757081	840.367335	259	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55286890	55286890	8628	19	C	T	T	T	273	21	KIR2DL1	2	2
GP6	51206	broad.mit.edu	37	19	55526377	55526377	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55526377G>T	uc002qil.2	-	c.936C>A	c.(934-936)GCC>GCA	p.A312A	GP6_uc002qik.2_Missense_Mutation_p.P311H|GP6_uc010esq.2_Missense_Mutation_p.P293H	NM_001083899	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet) isoform 1	Error:Variant_position_missing_in_Q9HCN6_after_alignment					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)										0.363636	8.992684	9.174277	4	7	KEEP	---	---	---	---	capture		Silent	SNP	55526377	55526377	6858	19	G	T	T	T	559	43	GP6	2	2
PTPRH	5794	broad.mit.edu	37	19	55698887	55698887	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55698887G>T	uc002qjq.2	-	c.2560C>A	c.(2560-2562)CTG>ATG	p.L854M	PTPRH_uc010esv.2_Missense_Mutation_p.L676M	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	854	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)	3		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)										0.637037	261.442714	263.664456	86	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55698887	55698887	13260	19	G	T	T	T	438	34	PTPRH	2	2
ZNF628	89887	broad.mit.edu	37	19	55994074	55994074	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55994074C>T	uc002qld.2	+	c.1502C>T	c.(1501-1503)ACG>ATG	p.T501M	NAT14_uc002qle.1_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	501					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)										0.216216	16.887977	19.632149	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55994074	55994074	18647	19	C	T	T	T	247	19	ZNF628	1	1
NLRP4	147945	broad.mit.edu	37	19	56369394	56369394	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56369394C>A	uc002qmd.3	+	c.635C>A	c.(634-636)CCC>CAC	p.P212H	NLRP4_uc002qmf.2_Missense_Mutation_p.P137H|NLRP4_uc010etf.2_Missense_Mutation_p.P43H	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	212	NACHT.						ATP binding			ovary(5)|lung(3)|kidney(1)|pancreas(1)	10		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)										0.920354	336.678111	355.941726	104	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56369394	56369394	10882	19	C	A	A	A	286	22	NLRP4	2	2
NLRP13	126204	broad.mit.edu	37	19	56413425	56413425	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56413425G>T	uc010ygg.1	-	c.2765C>A	c.(2764-2766)CCA>CAA	p.P922Q		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	922							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)										0.901869	651.013111	685.589991	193	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56413425	56413425	10878	19	G	T	T	T	611	47	NLRP13	2	2
NLRP13	126204	broad.mit.edu	37	19	56424480	56424480	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56424480C>G	uc010ygg.1	-	c.703G>C	c.(703-705)GGG>CGG	p.G235R		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	235	NACHT.|ATP (Potential).						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)										0.906667	412.793209	437.682782	136	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56424480	56424480	10878	19	C	G	G	G	286	22	NLRP13	3	3
NLRP8	126205	broad.mit.edu	37	19	56477721	56477721	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56477721C>T	uc002qmh.2	+	c.2356C>T	c.(2356-2358)CCC>TCC	p.P786S	NLRP8_uc010etg.2_Missense_Mutation_p.P786S	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	786						cytoplasm	ATP binding			ovary(4)|breast(3)|large_intestine(1)|kidney(1)|skin(1)	10		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)										0.975	275.026897	279.022628	78	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56477721	56477721	10886	19	C	T	T	T	286	22	NLRP8	2	2
ZNF582	147948	broad.mit.edu	37	19	56895530	56895530	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56895530C>A	uc002qmy.2	-	c.1349G>T	c.(1348-1350)GGT>GTT	p.G450V	ZNF582_uc002qmz.1_Missense_Mutation_p.G419V	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		Ovarian(183;1887 2032 4349 30507 51343)								0.576	226.936565	227.575118	72	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56895530	56895530	18609	19	C	A	A	A	234	18	ZNF582	2	2
ZNF667	63934	broad.mit.edu	37	19	56953401	56953401	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56953401T>A	uc002qnd.2	-	c.963A>T	c.(961-963)CAA>CAT	p.Q321H	ZNF667_uc010etl.2_Missense_Mutation_p.Q103H|ZNF667_uc002qne.2_Missense_Mutation_p.Q321H|ZNF667_uc010etm.2_Missense_Mutation_p.Q264H	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)										0.954955	364.232557	374.077627	106	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56953401	56953401	18669	19	T	A	A	A	829	64	ZNF667	3	3
PEG3	5178	broad.mit.edu	37	19	57327366	57327366	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57327366T>C	uc002qnu.2	-	c.2444A>G	c.(2443-2445)CAT>CGT	p.H815R	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.H786R|PEG3_uc002qnv.2_Missense_Mutation_p.H815R|PEG3_uc002qnw.2_Missense_Mutation_p.H691R|PEG3_uc002qnx.2_Missense_Mutation_p.H689R|PEG3_uc010etr.2_Missense_Mutation_p.H815R	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	815					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)										0.945652	900.938962	929.124812	261	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57327366	57327366	12141	19	T	C	C	C	663	51	PEG3	4	4
ZNF17	7565	broad.mit.edu	37	19	57929296	57929296	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57929296A>G	uc002qop.1	+	c.38A>G	c.(37-39)GAG>GGG	p.E13G	ZNF547_uc002qpm.3_Intron|ZNF17_uc002qoo.1_Missense_Mutation_p.E11G	NM_006959	NP_008890	P17021	ZNF17_HUMAN	zinc finger protein 17	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		Melanoma(149;1637 1853 29914 42869 44988)								0.582996	978.666113	981.631675	288	206	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57929296	57929296	18334	19	A	G	G	G	143	11	ZNF17	4	4
ZNF549	256051	broad.mit.edu	37	19	58048848	58048848	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58048848A>G	uc002qpb.1	+	c.476A>G	c.(475-477)CAC>CGC	p.H159R	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.H146R	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.458333	203.452265	203.666872	66	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58048848	58048848	18576	19	A	G	G	G	78	6	ZNF549	4	4
FUT6	2528	broad.mit.edu	37	19	5831811	5831811	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5831811G>A	uc010dul.1	-	c.768C>T	c.(766-768)ACC>ACT	p.T256T	FUT6_uc002mdf.1_Silent_p.T256T|FUT6_uc002mdg.1_Silent_p.T256T|FUT6_uc002mdh.1_Silent_p.T256T	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	fucosyltransferase 6	256	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0														0.980392	179.712203	180.86286	50	1	KEEP	---	---	---	---	capture		Silent	SNP	5831811	5831811	6359	19	G	A	A	A	496	39	FUT6	1	1
FUT6	2528	broad.mit.edu	37	19	5832192	5832192	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:5832192C>T	uc010dul.1	-	c.387G>A	c.(385-387)CAG>CAA	p.Q129Q	FUT6_uc002mdf.1_Silent_p.Q129Q|FUT6_uc002mdg.1_Silent_p.Q129Q|FUT6_uc002mdh.1_Silent_p.Q129Q	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	fucosyltransferase 6	129	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity				0														0.933333	93.694951	98.458136	28	2	KEEP	---	---	---	---	capture		Silent	SNP	5832192	5832192	6359	19	C	T	T	T	363	28	FUT6	2	2
RFX2	5990	broad.mit.edu	37	19	6026250	6026250	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6026250T>A	uc002meb.2	-	c.523_splice	c.e6-1	p.L175_splice	RFX2_uc002mec.2_Intron	NM_000635	NP_000626			regulatory factor X2 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription regulator activity			breast(4)|ovary(1)	5						Colon(38;171 817 19800 47433 48051)								0.528736	140.933759	140.995627	46	41	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	6026250	6026250	13735	19	T	A	A	A	689	53	RFX2	5	3
LASS4	79603	broad.mit.edu	37	19	8321918	8321918	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8321918C>G	uc002mjg.2	+	c.698C>G	c.(697-699)TCT>TGT	p.S233C	LASS4_uc002mjh.2_Missense_Mutation_p.S182C|LASS4_uc002mji.2_Missense_Mutation_p.S69C|LASS4_uc010dvz.2_Missense_Mutation_p.S233C	NM_024552	NP_078828	Q9HA82	LASS4_HUMAN	LAG1 homolog, ceramide synthase 4	233	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														0.897143	541.904266	569.371111	157	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8321918	8321918	8964	19	C	G	G	G	416	32	LASS4	3	3
HNRNPM	4670	broad.mit.edu	37	19	8551153	8551153	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8551153G>T	uc010dwe.2	+	c.1841G>T	c.(1840-1842)GGT>GTT	p.G614V	HNRNPM_uc010xke.1_Missense_Mutation_p.G560V|HNRNPM_uc010dwd.2_Missense_Mutation_p.G575V|HNRNPM_uc002mka.2_Missense_Mutation_p.G479V|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	614	Poly-Gly.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0														0.931818	135.249122	142.46538	41	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8551153	8551153	7563	19	G	T	T	T	572	44	HNRNPM	2	2
MUC16	94025	broad.mit.edu	37	19	9002505	9002505	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9002505G>T	uc002mkp.2	-	c.40311C>A	c.(40309-40311)GTC>GTA	p.V13437V	MUC16_uc010dwi.2_Non-coding_Transcript|MUC16_uc010dwj.2_Silent_p.V254V|MUC16_uc010xki.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	13439	Extracellular (Potential).|SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.417445	777.013464	780.822853	268	374	KEEP	---	---	---	---	capture		Silent	SNP	9002505	9002505	10367	19	G	T	T	T	574	45	MUC16	2	2
MUC16	94025	broad.mit.edu	37	19	9064622	9064622	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9064622A>T	uc002mkp.2	-	c.22824T>A	c.(22822-22824)TCT>TCA	p.S7608S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7610	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.07907	0.921961	39.806859	17	198	KEEP	---	---	---	---	capture		Silent	SNP	9064622	9064622	10367	19	A	T	T	T	80	7	MUC16	3	3
MUC16	94025	broad.mit.edu	37	19	9069244	9069244	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9069244T>C	uc002mkp.2	-	c.18202A>G	c.(18202-18204)AGA>GGA	p.R6068G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	6070	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.287975	241.283576	254.031501	91	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9069244	9069244	10367	19	T	C	C	C	713	55	MUC16	4	4
MUC16	94025	broad.mit.edu	37	19	9070919	9070919	+	Silent	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9070919A>C	uc002mkp.2	-	c.16527T>G	c.(16525-16527)TCT>TCG	p.S5509S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5511	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.332203	261.341613	268.704293	98	197	KEEP	---	---	---	---	capture		Silent	SNP	9070919	9070919	10367	19	A	C	C	C	28	3	MUC16	4	4
OR7G2	390882	broad.mit.edu	37	19	9213144	9213144	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9213144T>A	uc010xkk.1	-	c.839A>T	c.(838-840)TAC>TTC	p.Y280F		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	259	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						Esophageal Squamous(67;143 1448 28637 40648)								0.915966	370.193063	389.982937	109	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9213144	9213144	11634	19	T	A	A	A	741	57	OR7G2	3	3
PALMD	54873	broad.mit.edu	37	1	100155365	100155365	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100155365G>T	uc001dsf.2	+	c.1549G>T	c.(1549-1551)GTC>TTC	p.V517F	PALMD_uc001dsg.2_Missense_Mutation_p.V517F	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	palmdelphin	517					regulation of cell shape	cytoplasm|membrane				ovary(1)|pancreas(1)	2		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)										0.294118	163.118098	170.858142	60	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100155365	100155365	11828	1	G	T	T	T	624	48	PALMD	2	2
AGL	178	broad.mit.edu	37	1	100382214	100382214	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100382214G>T	uc001dsi.1	+	c.4408G>T	c.(4408-4410)GGC>TGC	p.G1470C	AGL_uc001dsj.1_Missense_Mutation_p.G1470C|AGL_uc001dsk.1_Missense_Mutation_p.G1470C|AGL_uc001dsl.1_Missense_Mutation_p.G1470C|AGL_uc001dsm.1_Missense_Mutation_p.G1454C|AGL_uc001dsn.1_Missense_Mutation_p.G1453C	NM_000642	NP_000633	P35573	GDE_HUMAN	amylo-1,6-glucosidase,	1470	4-alpha-glucanotransferase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			ovary(1)|central_nervous_system(1)	2		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)										0.365079	64.508217	65.51675	23	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100382214	100382214	387	1	G	T	T	T	559	43	AGL	2	2
VCAM1	7412	broad.mit.edu	37	1	101188704	101188704	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:101188704C>G	uc001dti.2	+	c.469C>G	c.(469-471)CAT>GAT	p.H157D	VCAM1_uc001dtj.2_Missense_Mutation_p.H157D|VCAM1_uc010ouj.1_Missense_Mutation_p.H95D	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	157	Ig-like C2-type 2.|Extracellular (Potential).				B cell differentiation|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)									0.671429	166.944524	168.767193	47	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101188704	101188704	17702	1	C	G	G	G	377	29	VCAM1	3	3
COL11A1	1301	broad.mit.edu	37	1	103352455	103352455	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103352455T>C	uc001dum.2	-	c.4802A>G	c.(4801-4803)GAC>GGC	p.D1601G	COL11A1_uc001duk.2_Missense_Mutation_p.D785G|COL11A1_uc001dul.2_Missense_Mutation_p.D1589G|COL11A1_uc001dun.2_Missense_Mutation_p.D1550G|COL11A1_uc009weh.2_Missense_Mutation_p.D1473G	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	1589	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.319149	138.983244	143.051123	45	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103352455	103352455	3805	1	T	C	C	C	754	58	COL11A1	4	4
COL11A1	1301	broad.mit.edu	37	1	103427757	103427757	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:103427757C>A	uc001dum.2	-	c.3125G>T	c.(3124-3126)GGG>GTG	p.G1042V	COL11A1_uc001duk.2_Missense_Mutation_p.G226V|COL11A1_uc001dul.2_Missense_Mutation_p.G1030V|COL11A1_uc001dun.2_Missense_Mutation_p.G991V|COL11A1_uc009weh.2_Missense_Mutation_p.G914V	NM_080629	NP_542196	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform B	1030	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|central_nervous_system(1)|pancreas(1)	11		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)										0.621622	372.541957	374.938097	115	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103427757	103427757	3805	1	C	A	A	A	286	22	COL11A1	2	2
PGD	5226	broad.mit.edu	37	1	10473253	10473253	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10473253A>T	uc001arc.2	+	c.789A>T	c.(787-789)ACA>ACT	p.T263T	PGD_uc001ard.2_Silent_p.T183T|PGD_uc010oak.1_Silent_p.T241T|PGD_uc010oal.1_Silent_p.T250T	NM_002631	NP_002622	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	263					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			ovary(1)	1	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)										0.770833	123.789998	127.014955	37	11	KEEP	---	---	---	---	capture		Silent	SNP	10473253	10473253	12210	1	A	T	T	T	80	7	PGD	3	3
CORT	1325	broad.mit.edu	37	1	10510335	10510335	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:10510335G>T	uc001ari.2	+	c.205G>T	c.(205-207)GCT>TCT	p.A69S	APITD1_uc001arf.2_Intron|APITD1_uc001arg.2_Intron	NM_001302	NP_001293	O00230	CORT_HUMAN	cortistatin preproprotein	19					inhibition of adenylate cyclase activity by G-protein signaling pathway|synaptic transmission	extracellular region|soluble fraction	G-protein-coupled receptor binding|neuropeptide hormone activity				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)										0.454545	14.589739	14.606869	5	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10510335	10510335	3898	1	G	T	T	T	494	38	CORT	1	1
NTNG1	22854	broad.mit.edu	37	1	107867442	107867442	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:107867442T>A	uc001dvh.3	+	c.785T>A	c.(784-786)CTG>CAG	p.L262Q	NTNG1_uc001dvf.3_Missense_Mutation_p.L262Q|NTNG1_uc010out.1_Missense_Mutation_p.L262Q|NTNG1_uc001dvc.3_Missense_Mutation_p.L262Q|NTNG1_uc001dvd.1_Missense_Mutation_p.L262Q	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	262	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)	4		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)										0.72973	271.219547	276.505177	81	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107867442	107867442	11109	1	T	A	A	A	715	55	NTNG1	3	3
VAV3	10451	broad.mit.edu	37	1	108185308	108185308	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:108185308G>T	uc010ouw.1	-	c.1847C>A	c.(1846-1848)CCT>CAT	p.P616H	VAV3_uc010ouu.1_Missense_Mutation_p.P20H|VAV3_uc001dvj.1_Missense_Mutation_p.P56H|VAV3_uc010ouv.1_Missense_Mutation_p.P20H|VAV3_uc001dvk.1_Missense_Mutation_p.P616H	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	616	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(4)|lung(2)|breast(2)	8		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)										0.60596	585.552062	588.515057	183	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108185308	108185308	17698	1	G	T	T	T	455	35	VAV3	2	2
VAV3	10451	broad.mit.edu	37	1	108313276	108313276	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:108313276A>G	uc010ouw.1	-	c.630T>C	c.(628-630)ACT>ACC	p.T210T	VAV3_uc001dvk.1_Silent_p.T210T|VAV3_uc001dvl.1_Silent_p.T34T|VAV3_uc010oux.1_Silent_p.T210T	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor isoform	210	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(4)|lung(2)|breast(2)	8		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)										0.287879	173.825259	181.795423	57	141	KEEP	---	---	---	---	capture		Silent	SNP	108313276	108313276	17698	1	A	G	G	G	28	3	VAV3	4	4
CELSR2	1952	broad.mit.edu	37	1	109795318	109795318	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109795318G>T	uc001dxa.3	+	c.2617G>T	c.(2617-2619)GTG>TTG	p.V873L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	873	Extracellular (Potential).|Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of gene-specific transcription|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)	3		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		NSCLC(158;1285 2011 34800 34852 42084)								0.290909	47.597379	49.739885	16	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109795318	109795318	3355	1	G	T	T	T	520	40	CELSR2	1	1
CELSR2	1952	broad.mit.edu	37	1	109795370	109795370	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:109795370G>A	uc001dxa.3	+	c.2669G>A	c.(2668-2670)CGG>CAG	p.R890Q		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	890	Extracellular (Potential).|Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of gene-specific transcription|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)	3		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		NSCLC(158;1285 2011 34800 34852 42084)								0.285714	31.092391	32.817784	12	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109795370	109795370	3355	1	G	A	A	A	507	39	CELSR2	1	1
EPS8L3	79574	broad.mit.edu	37	1	110300629	110300629	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110300629C>T	uc001dyq.1	-	c.772G>A	c.(772-774)GAG>AAG	p.E258K	EPS8L3_uc001dys.1_Missense_Mutation_p.E257K|EPS8L3_uc001dyr.1_Missense_Mutation_p.E257K|EPS8L3_uc009wfm.1_Missense_Mutation_p.E224K|EPS8L3_uc009wfn.1_Missense_Mutation_p.E232K|EPS8L3_uc009wfo.1_Missense_Mutation_p.E204K	NM_139053	NP_620641	Q8TE67	ES8L3_HUMAN	epidermal growth factor receptor pathway	257						cytoplasm	protein binding			ovary(2)|skin(1)	3		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)										0.651786	236.525206	238.821944	73	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110300629	110300629	5390	1	C	T	T	T	390	30	EPS8L3	2	2
RBM15	64783	broad.mit.edu	37	1	110883840	110883840	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110883840G>T	uc001dzl.1	+	c.1813G>T	c.(1813-1815)GTG>TTG	p.V605L	RBM15_uc001dzm.1_Missense_Mutation_p.V605L	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	605					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)						100				0.526316	27.583862	27.591689	10	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110883840	110883840	13577	1	G	T	T	T	624	48	RBM15	2	2
RBM15	64783	broad.mit.edu	37	1	110884807	110884807	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110884807A>C	uc001dzl.1	+	c.2780A>C	c.(2779-2781)GAG>GCG	p.E927A	RBM15_uc001dzm.1_Missense_Mutation_p.E927A	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	927	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)						100				0.244898	57.649759	63.46208	24	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110884807	110884807	13577	1	A	C	C	C	143	11	RBM15	4	4
C1orf103	55791	broad.mit.edu	37	1	111494009	111494009	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:111494009T>C	uc001eaa.2	-	c.1497A>G	c.(1495-1497)AGA>AGG	p.R499R	C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	NM_018372	NP_060842	Q5T3J3	CA103_HUMAN	receptor-interacting factor 1 isoform 1	499							protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)										0.265306	261.620558	278.7445	91	252	KEEP	---	---	---	---	capture		Silent	SNP	111494009	111494009	2044	1	T	C	C	C	803	62	C1orf103	4	4
OLFML3	56944	broad.mit.edu	37	1	114524161	114524161	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:114524161C>T	uc001eer.1	+	c.991C>T	c.(991-993)CTC>TTC	p.L331F	OLFML3_uc001ees.1_Missense_Mutation_p.L311F|OLFML3_uc001eet.1_Missense_Mutation_p.L187F	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3 precursor	331	Olfactomedin-like.				multicellular organismal development	extracellular region					0	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.358974	126.01921	128.067364	42	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114524161	114524161	11264	1	C	T	T	T	312	24	OLFML3	2	2
TNFRSF4	7293	broad.mit.edu	37	1	1147505	1147505	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1147505C>A	uc001ade.2	-	c.451G>T	c.(451-453)GGG>TGG	p.G151W	TNFRSF4_uc001adf.2_Missense_Mutation_p.G155W	NM_003327	NP_003318	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily,	151	TNFR-Cys 4.|Extracellular (Potential).				immune response|negative regulation of gene-specific transcription|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)						139				0.6	24.97215	25.102354	9	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1147505	1147505	16838	1	C	A	A	A	273	21	TNFRSF4	2	2
TRIM33	51592	broad.mit.edu	37	1	114970493	114970493	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:114970493C>T	uc001eew.2	-	c.1179G>A	c.(1177-1179)ATG>ATA	p.M393I	TRIM33_uc010owr.1_Missense_Mutation_p.M1I|TRIM33_uc010ows.1_Missense_Mutation_p.M1I|TRIM33_uc001eex.2_Missense_Mutation_p.M393I	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	393	Necessary for oligomerization.|Potential.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			central_nervous_system(3)|lung(2)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	9	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)						377				0.303371	71.693807	74.763678	27	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114970493	114970493	17051	1	C	T	T	T	377	29	TRIM33	2	2
SYCP1	6847	broad.mit.edu	37	1	115537618	115537618	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115537618A>G	uc001efr.2	+	c.2909A>G	c.(2908-2910)GAA>GGA	p.E970G	SYCP1_uc010owt.1_Non-coding_Transcript|SYCP1_uc001efq.2_Missense_Mutation_p.E970G|SYCP1_uc009wgw.2_Missense_Mutation_p.E945G	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	970					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding				0	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)										0.58	202.566654	203.125438	58	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115537618	115537618	15952	1	A	G	G	G	117	9	SYCP1	4	4
TSHB	7252	broad.mit.edu	37	1	115576687	115576687	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:115576687G>C	uc001efs.1	+	c.256G>C	c.(256-258)GGA>CGA	p.G86R		NM_000549	NP_000540	P01222	TSHB_HUMAN	thyroid stimulating hormone, beta precursor	86					anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity				0	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)										0.129956	79.026042	139.5197	59	395	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	115576687	115576687	17172	1	G	C	C	C	455	35	TSHB	3	3
CD2	914	broad.mit.edu	37	1	117297470	117297470	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:117297470A>T	uc001egu.3	+	c.279A>T	c.(277-279)AAA>AAT	p.K93N	CD2_uc010owz.1_Missense_Mutation_p.K93N|CD2_uc010oxa.1_Missense_Mutation_p.K93N	NM_001767	NP_001758	P06729	CD2_HUMAN	CD2 molecule precursor	93	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			breast(1)	1	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	NSCLC(14;263 555 26380 43512 51332)								0.366667	62.432738	63.371176	22	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117297470	117297470	3106	1	A	T	T	T	11	1	CD2	3	3
ADAM30	11085	broad.mit.edu	37	1	120437565	120437565	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:120437565G>C	uc001eij.2	-	c.1395C>G	c.(1393-1395)GAC>GAG	p.D465E		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	465	Disintegrin.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)										0.242678	159.273574	173.672564	58	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120437565	120437565	249	1	G	C	C	C	568	44	ADAM30	3	3
ADAM30	11085	broad.mit.edu	37	1	120438854	120438854	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:120438854C>A	uc001eij.2	-	c.106G>T	c.(106-108)GGG>TGG	p.G36W		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	36					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)										0.4	113.229204	114.060588	38	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120438854	120438854	249	1	C	A	A	A	312	24	ADAM30	2	2
TNFRSF8	943	broad.mit.edu	37	1	12170100	12170100	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12170100G>T	uc001atq.2	+	c.515G>T	c.(514-516)GGC>GTC	p.G172V	TNFRSF8_uc010obc.1_Missense_Mutation_p.G61V	NM_001243	NP_001234	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily,	172	Extracellular (Potential).				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1)	5	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)						756				0.44186	52.548204	52.668312	19	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12170100	12170100	16840	1	G	T	T	T	546	42	TNFRSF8	2	2
C1orf158	93190	broad.mit.edu	37	1	12819346	12819346	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12819346G>T	uc001auh.2	+	c.329G>T	c.(328-330)GGG>GTG	p.G110V	C1orf158_uc010obe.1_Missense_Mutation_p.G110V	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	hypothetical protein LOC93190	110										ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)										0.305164	166.903034	174.11215	65	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12819346	12819346	2074	1	G	T	T	T	559	43	C1orf158	2	2
HFE2	148738	broad.mit.edu	37	1	145416854	145416854	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145416854A>T	uc001eni.2	+	c.1199A>T	c.(1198-1200)GAT>GTT	p.D400V	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Missense_Mutation_p.D174V|HFE2_uc001enk.2_Missense_Mutation_p.D287V|HFE2_uc001enl.2_Missense_Mutation_p.D174V	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	400					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.322581	55.479918	57.211955	20	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145416854	145416854	7365	1	A	T	T	T	156	12	HFE2	3	3
LIX1L	128077	broad.mit.edu	37	1	145487437	145487437	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145487437G>T	uc001enr.2	+	c.426G>T	c.(424-426)CTG>CTT	p.L142L	NBPF10_uc001emp.3_Intron	NM_153713	NP_714924	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse) like	142										ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.280822	102.313401	108.618845	41	105	KEEP	---	---	---	---	capture		Silent	SNP	145487437	145487437	9161	1	G	T	T	T	587	46	LIX1L	2	2
ITGA10	8515	broad.mit.edu	37	1	145534101	145534101	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145534101C>G	uc001eoa.2	+	c.1606C>G	c.(1606-1608)CAA>GAA	p.Q536E	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.Q405E|ITGA10_uc009wiw.2_Missense_Mutation_p.Q393E|ITGA10_uc010oyw.1_Missense_Mutation_p.Q481E	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	536	Extracellular (Potential).|FG-GAP 6.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)									450				0.060453	-31.296639	48.854916	24	373	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145534101	145534101	8177	1	C	G	G	G	273	21	ITGA10	3	3
GJA8	2703	broad.mit.edu	37	1	147380481	147380481	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:147380481C>A	uc001epu.1	+	c.399C>A	c.(397-399)AGC>AGA	p.S133R		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	133	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)	5	all_hematologic(923;0.0276)					Melanoma(76;1255 1795 8195 52096)								0.740157	318.810326	325.454206	94	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147380481	147380481	6673	1	C	A	A	A	350	27	GJA8	1	1
NBPF14	25832	broad.mit.edu	37	1	148012571	148012571	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:148012571C>G	uc001eqq.2	-	c.1388G>C	c.(1387-1389)TGC>TCC	p.C463S	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Missense_Mutation_p.C374S|NBPF14_uc010pae.1_Missense_Mutation_p.C130S|NBPF14_uc010paf.1_Missense_Mutation_p.C618S|NBPF14_uc010pad.1_5'Flank|NBPF14_uc001eqs.1_Intron	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	hypothetical protein LOC25832	463	NBPF 5.					cytoplasm				ovary(1)	1	all_hematologic(923;0.032)													0.21729	240.394085	271.90617	93	335	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148012571	148012571	10591	1	C	G	G	G	325	25	NBPF14	3	3
ECM1	1893	broad.mit.edu	37	1	150483446	150483446	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150483446G>A	uc001euu.2	+	c.567G>A	c.(565-567)TGG>TGA	p.W189*	ECM1_uc010pce.1_Nonsense_Mutation_p.W89*|ECM1_uc010pcf.1_Nonsense_Mutation_p.W82*|ECM1_uc001eus.2_Nonsense_Mutation_p.W160*|ECM1_uc001eut.2_Nonsense_Mutation_p.W160*|ECM1_uc001euv.2_Nonsense_Mutation_p.W187*|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	160	2 X approximate repeats.|1.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			Melanoma(156;1696 2560 11093 19685)				188				0.743697	577.974417	590.868933	177	61	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	150483446	150483446	5084	1	G	A	A	A	559	43	ECM1	5	2
PRUNE	58497	broad.mit.edu	37	1	150997137	150997137	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150997137C>A	uc001ewh.1	+	c.386C>A	c.(385-387)CCC>CAC	p.P129H	PRUNE_uc001ewi.1_5'UTR|PRUNE_uc010pco.1_Intron|PRUNE_uc001ewj.1_Intron|PRUNE_uc001ewk.1_5'UTR	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	129				DHRP->AAAA: Partial loss of cAMP PDE activity.		cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)									OREG0013792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.527778	165.832301	165.90229	57	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150997137	150997137	13091	1	C	A	A	A	286	22	PRUNE	2	2
POGZ	23126	broad.mit.edu	37	1	151400443	151400443	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151400443C>A	uc001eyd.1	-	c.934G>T	c.(934-936)GAA>TAA	p.E312*	POGZ_uc001eye.1_Nonsense_Mutation_p.E259*|POGZ_uc010pdb.1_Nonsense_Mutation_p.E303*|POGZ_uc001eyf.1_Nonsense_Mutation_p.E259*|POGZ_uc010pdc.1_Nonsense_Mutation_p.E250*|POGZ_uc009wmv.1_Nonsense_Mutation_p.E217*|POGZ_uc010pdd.1_Intron|POGZ_uc001eyg.1_Nonsense_Mutation_p.E312*	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	312					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)											0.62963	214.417745	216.0112	68	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	151400443	151400443	12614	1	C	A	A	A	403	31	POGZ	5	1
LINGO4	339398	broad.mit.edu	37	1	151773761	151773761	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:151773761C>T	uc001ezf.1	-	c.1420G>A	c.(1420-1422)GTG>ATG	p.V474M		NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	474	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				large_intestine(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)											0.315642	322.267222	333.079192	113	245	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151773761	151773761	9144	1	C	T	T	T	260	20	LINGO4	2	2
HRNR	388697	broad.mit.edu	37	1	152192919	152192919	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152192919G>A	uc001ezt.1	-	c.1186C>T	c.(1186-1188)CAG>TAG	p.Q396*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	396	4.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.394737	42.21503	42.584075	15	23	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	152192919	152192919	7653	1	G	A	A	A	585	45	HRNR	5	2
FLG	2312	broad.mit.edu	37	1	152277200	152277200	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152277200A>G	uc001ezu.1	-	c.10162T>C	c.(10162-10164)TAC>CAC	p.Y3388H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3388	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)											0.67433	1262.199507	1276.305408	352	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152277200	152277200	6160	1	A	G	G	G	195	15	FLG	4	4
FLG	2312	broad.mit.edu	37	1	152281913	152281913	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152281913G>A	uc001ezu.1	-	c.5449C>T	c.(5449-5451)CCA>TCA	p.P1817S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1817	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)											0.592527	1096.329387	1100.528583	333	229	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152281913	152281913	6160	1	G	A	A	A	559	43	FLG	2	2
FLG	2312	broad.mit.edu	37	1	152284537	152284537	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152284537T>C	uc001ezu.1	-	c.2825A>G	c.(2824-2826)CAG>CGG	p.Q942R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	942	Ser-rich.|Filaggrin 5.				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)											0.276471	237.217994	252.591608	94	246	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152284537	152284537	6160	1	T	C	C	C	715	55	FLG	4	4
FLG	2312	broad.mit.edu	37	1	152285069	152285069	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152285069G>T	uc001ezu.1	-	c.2293C>A	c.(2293-2295)CAT>AAT	p.H765N		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	765	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)											0.276786	242.308425	257.397924	93	243	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152285069	152285069	6160	1	G	T	T	T	611	47	FLG	2	2
FLG2	388698	broad.mit.edu	37	1	152323416	152323416	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152323416T>G	uc001ezw.3	-	c.6846A>C	c.(6844-6846)CAA>CAC	p.Q2282H		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2282							calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.271335	333.654008	355.258555	124	333	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152323416	152323416	6161	1	T	G	G	G	777	60	FLG2	4	4
FLG2	388698	broad.mit.edu	37	1	152323426	152323426	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152323426G>T	uc001ezw.3	-	c.6836C>A	c.(6835-6837)GCT>GAT	p.A2279D		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2279							calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.328512	430.915568	443.507813	159	325	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152323426	152323426	6161	1	G	T	T	T	442	34	FLG2	2	2
FLG2	388698	broad.mit.edu	37	1	152324583	152324583	+	Silent	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152324583T>G	uc001ezw.3	-	c.5679A>C	c.(5677-5679)TCA>TCC	p.S1893S		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1893							calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.309927	365.746867	379.104522	128	285	KEEP	---	---	---	---	capture		Silent	SNP	152324583	152324583	6161	1	T	G	G	G	756	59	FLG2	4	4
LCE5A	254910	broad.mit.edu	37	1	152484228	152484228	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152484228G>T	uc001ezy.2	+	c.218G>T	c.(217-219)AGG>ATG	p.R73M	CRCT1_uc001ezz.2_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	73	Cys-rich.				keratinization					ovary(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.368421	18.519087	18.808539	7	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152484228	152484228	8998	1	G	T	T	T	455	35	LCE5A	2	2
LCE2A	353139	broad.mit.edu	37	1	152671415	152671415	+	Missense_Mutation	SNP	C	A	A	rs112496497		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152671415C>A	uc001faj.2	+	c.38C>A	c.(37-39)CCT>CAT	p.P13H		NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	13	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)											0.350806	252.96429	257.827496	87	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152671415	152671415	8988	1	C	A	A	A	312	24	LCE2A	2	2
LCE1B	353132	broad.mit.edu	37	1	152784985	152784985	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152784985T>A	uc001faq.2	+	c.63T>A	c.(61-63)CCT>CCA	p.P21P		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	21	Pro-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.262774	255.386221	276.349051	108	303	KEEP	---	---	---	---	capture		Silent	SNP	152784985	152784985	8983	1	T	A	A	A	691	54	LCE1B	3	3
SPRR3	6707	broad.mit.edu	37	1	152975854	152975854	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152975854C>A	uc001fax.3	+	c.358C>A	c.(358-360)CAA>AAA	p.Q120K	SPRR3_uc001faz.3_Missense_Mutation_p.Q120K|SPRR3_uc001fay.2_Missense_Mutation_p.Q112K	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	120	10.|14 X 8 AA approximate tandem repeats.				keratinization|wound healing	cytoplasm	protein binding|structural molecule activity				0	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.32	224.325332	231.515006	80	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152975854	152975854	15617	1	C	A	A	A	273	21	SPRR3	2	2
S100A8	6279	broad.mit.edu	37	1	153362656	153362656	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153362656G>A	uc001fbs.2	-	c.205C>T	c.(205-207)CAG>TAG	p.Q69*		NM_002964	NP_002955	P05109	S10A8_HUMAN	S100 calcium-binding protein A8	69	2; high affinity.|EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding				0	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.253589	127.865128	139.393875	53	156	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	153362656	153362656	14266	1	G	A	A	A	611	47	S100A8	5	2
UBAP2L	9898	broad.mit.edu	37	1	154207765	154207765	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154207765G>T	uc001fep.3	+	c.542G>T	c.(541-543)AGA>ATA	p.R181I	UBAP2L_uc009wot.2_Missense_Mutation_p.R181I|UBAP2L_uc010pek.1_Missense_Mutation_p.R173I|UBAP2L_uc010pel.1_Missense_Mutation_p.R191I|UBAP2L_uc001fen.1_Missense_Mutation_p.R180I|UBAP2L_uc010pen.1_Missense_Mutation_p.R95I	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	181					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)											0.333333	24.567145	25.230789	9	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154207765	154207765	17395	1	G	T	T	T	429	33	UBAP2L	2	2
PBXIP1	57326	broad.mit.edu	37	1	154919082	154919082	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154919082C>T	uc001ffr.2	-	c.1068G>A	c.(1066-1068)GGG>GGA	p.G356G	PBXIP1_uc001ffs.2_Silent_p.G327G|PBXIP1_uc010pep.1_Silent_p.G201G	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	356					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)											0.243421	93.919102	103.026519	37	115	KEEP	---	---	---	---	capture		Silent	SNP	154919082	154919082	11916	1	C	T	T	T	275	22	PBXIP1	2	2
PYGO2	90780	broad.mit.edu	37	1	154931577	154931577	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154931577C>A	uc001fft.2	-	c.899G>T	c.(898-900)GGG>GTG	p.G300V		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	pygopus homolog 2	300	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding				0	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			NSCLC(87;357 1460 1955 21029 23522)								0.4	8.992979	9.081629	4	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154931577	154931577	13322	1	C	A	A	A	286	22	PYGO2	2	2
PKLR	5313	broad.mit.edu	37	1	155265545	155265545	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155265545G>A	uc001fkb.3	-	c.286C>T	c.(286-288)CCA>TCA	p.P96S	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.P65S|PKLR_uc010pga.1_Missense_Mutation_p.P32S	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	96					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(3)|ovary(1)	4	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)									0.183784	65.740593	83.103933	34	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155265545	155265545	12401	1	G	A	A	A	546	42	PKLR	2	2
ASH1L	55870	broad.mit.edu	37	1	155448223	155448223	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155448223C>G	uc009wqq.2	-	c.4438G>C	c.(4438-4440)GAG>CAG	p.E1480Q	ASH1L_uc001fkt.2_Missense_Mutation_p.E1480Q|ASH1L_uc009wqr.1_Missense_Mutation_p.E1480Q	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1480					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|RNA polymerase II transcription factor activity|zinc ion binding			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)											0.201754	56.766354	66.184469	23	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155448223	155448223	1060	1	C	G	G	G	377	29	ASH1L	3	3
GON4L	54856	broad.mit.edu	37	1	155726844	155726844	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155726844G>A	uc001flz.2	-	c.5422C>T	c.(5422-5424)CTG>TTG	p.L1808L	GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Silent_p.L1808L|GON4L_uc009wrh.1_Silent_p.L1808L|GON4L_uc001fma.1_Silent_p.L1808L|GON4L_uc001fmb.3_Silent_p.L1004L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1808					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.263158	57.265446	61.120655	20	56	KEEP	---	---	---	---	capture		Silent	SNP	155726844	155726844	6845	1	G	A	A	A	451	35	GON4L	2	2
GON4L	54856	broad.mit.edu	37	1	155783541	155783541	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155783541T>A	uc001flz.2	-	c.1336A>T	c.(1336-1338)ATG>TTG	p.M446L	GON4L_uc001fly.1_Missense_Mutation_p.M446L|GON4L_uc009wrh.1_Missense_Mutation_p.M446L|GON4L_uc001fma.1_Missense_Mutation_p.M446L|GON4L_uc001fmc.2_Missense_Mutation_p.M446L|GON4L_uc001fmd.3_Missense_Mutation_p.M446L|GON4L_uc009wri.2_Missense_Mutation_p.M32L|GON4L_uc001fme.2_Missense_Mutation_p.M274L|GON4L_uc001fmf.2_Missense_Mutation_p.M140L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	446					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.714286	103.066286	104.796561	30	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155783541	155783541	6845	1	T	A	A	A	663	51	GON4L	3	3
NES	10763	broad.mit.edu	37	1	156642581	156642581	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156642581C>G	uc001fpq.2	-	c.1399G>C	c.(1399-1401)GCA>CCA	p.A467P		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	467	Tail.				brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)													0.15942	19.680378	27.313193	11	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156642581	156642581	10736	1	C	G	G	G	338	26	NES	3	3
NTRK1	4914	broad.mit.edu	37	1	156849054	156849054	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156849054G>T	uc001fqh.1	+	c.1946G>T	c.(1945-1947)CGG>CTG	p.R649L	NTRK1_uc001fqf.1_Missense_Mutation_p.R613L|NTRK1_uc009wsi.1_Missense_Mutation_p.R348L|NTRK1_uc001fqi.1_Missense_Mutation_p.R643L|NTRK1_uc009wsk.1_Missense_Mutation_p.R646L	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	649	Cytoplasmic (Potential).|Protein kinase.		R -> W (in CIPA).		activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|stomach(1)|central_nervous_system(1)	16	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)					290	TSP Lung(10;0.080)			0.373913	121.278697	122.888925	43	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156849054	156849054	11111	1	G	T	T	T	507	39	NTRK1	1	1
ETV3L	440695	broad.mit.edu	37	1	157069148	157069148	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157069148G>T	uc001fqq.1	-	c.81C>A	c.(79-81)GCC>GCA	p.A27A		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	27					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Hepatocellular(266;0.158)	Prostate(1639;0.184)												0.321429	101.863152	105.033865	36	76	KEEP	---	---	---	---	capture		Silent	SNP	157069148	157069148	5473	1	G	T	T	T	444	35	ETV3L	2	2
FCRL5	83416	broad.mit.edu	37	1	157497566	157497566	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157497566A>G	uc001fqu.2	-	c.1801T>C	c.(1801-1803)TAT>CAT	p.Y601H	FCRL5_uc009wsm.2_Missense_Mutation_p.Y601H|FCRL5_uc010phv.1_Missense_Mutation_p.Y601H|FCRL5_uc010phw.1_Missense_Mutation_p.Y516H	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	601	Extracellular (Potential).|Ig-like C2-type 6.					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)												0.098081	35.070498	110.883201	46	423	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157497566	157497566	6035	1	A	G	G	G	169	13	FCRL5	4	4
FCRL5	83416	broad.mit.edu	37	1	157508979	157508979	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157508979G>T	uc001fqu.2	-	c.1299C>A	c.(1297-1299)GCC>GCA	p.A433A	FCRL5_uc009wsm.2_Silent_p.A433A|FCRL5_uc010phv.1_Silent_p.A433A|FCRL5_uc010phw.1_Silent_p.A348A|FCRL5_uc001fqv.1_Silent_p.A433A|FCRL5_uc010phx.1_Silent_p.A184A	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	433	Extracellular (Potential).|Ig-like C2-type 4.					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)												0.286458	148.042652	155.899573	55	137	KEEP	---	---	---	---	capture		Silent	SNP	157508979	157508979	6035	1	G	T	T	T	600	47	FCRL5	2	2
FCRL4	83417	broad.mit.edu	37	1	157548295	157548295	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157548295G>C	uc001fqw.2	-	c.1398C>G	c.(1396-1398)ATC>ATG	p.I466M	FCRL4_uc010phy.1_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	466	Cytoplasmic (Potential).|ITIM motif 2.					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)	3	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)								315				0.205882	75.339831	86.235025	28	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157548295	157548295	6034	1	G	C	C	C	525	41	FCRL4	3	3
FCRL3	115352	broad.mit.edu	37	1	157665371	157665371	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157665371A>C	uc001fqz.3	-	c.1159T>G	c.(1159-1161)TTC>GTC	p.F387V	FCRL3_uc001fqx.3_Non-coding_Transcript|FCRL3_uc001fqy.3_Non-coding_Transcript|FCRL3_uc009wsn.2_Non-coding_Transcript|FCRL3_uc009wso.2_Non-coding_Transcript|FCRL3_uc001fra.2_Missense_Mutation_p.F113V|FCRL3_uc001frb.2_Missense_Mutation_p.F387V|FCRL3_uc001frc.1_Missense_Mutation_p.F387V	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	387	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)													0.322751	153.288765	158.571886	61	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157665371	157665371	6033	1	A	C	C	C	39	3	FCRL3	4	4
FCRL1	115350	broad.mit.edu	37	1	157771714	157771714	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157771714T>G	uc001frg.2	-	c.877A>C	c.(877-879)AAC>CAC	p.N293H	FCRL1_uc001frf.2_Non-coding_Transcript|FCRL1_uc001frh.2_Missense_Mutation_p.N293H|FCRL1_uc001fri.2_Missense_Mutation_p.N293H|FCRL1_uc001frj.2_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	293	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)								0.099099	22.004376	57.657034	22	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157771714	157771714	6031	1	T	G	G	G	819	63	FCRL1	4	4
FCRL1	115350	broad.mit.edu	37	1	157771895	157771895	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157771895C>G	uc001frg.2	-	c.696G>C	c.(694-696)CTG>CTC	p.L232L	FCRL1_uc001frf.2_Non-coding_Transcript|FCRL1_uc001frh.2_Silent_p.L232L|FCRL1_uc001fri.2_Silent_p.L232L|FCRL1_uc001frj.2_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	232	Ig-like C2-type 3.|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)								0.320261	146.822148	151.212848	49	104	KEEP	---	---	---	---	capture		Silent	SNP	157771895	157771895	6031	1	C	G	G	G	366	29	FCRL1	3	3
FCRL1	115350	broad.mit.edu	37	1	157776892	157776892	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157776892C>T	uc001frg.2	-	c.52G>A	c.(52-54)GAG>AAG	p.E18K	FCRL1_uc001frh.2_Missense_Mutation_p.E18K|FCRL1_uc001fri.2_Missense_Mutation_p.E18K|FCRL1_uc001frj.2_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	18	Extracellular (Potential).|Ig-like C2-type 1.					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)								0.330508	116.708062	119.7006	39	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157776892	157776892	6031	1	C	T	T	T	299	23	FCRL1	1	1
CD5L	922	broad.mit.edu	37	1	157804351	157804351	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157804351T>G	uc001frk.3	-	c.564A>C	c.(562-564)CAA>CAC	p.Q188H		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	188	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)											0.092437	8.034583	27.928766	11	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157804351	157804351	3155	1	T	G	G	G	829	64	CD5L	4	4
CD1A	909	broad.mit.edu	37	1	158224512	158224512	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158224512C>A	uc001frt.2	+	c.53C>A	c.(52-54)GCA>GAA	p.A18E		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	18	Extracellular (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)	2	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)									0.236203	262.724488	291.525396	107	346	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158224512	158224512	3101	1	C	A	A	A	325	25	CD1A	2	2
CD1B	910	broad.mit.edu	37	1	158300659	158300659	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158300659C>T	uc001frx.2	-	c.255G>A	c.(253-255)GAG>GAA	p.E85E	CD1B_uc001frw.2_5'UTR|CD1B_uc010pic.1_Silent_p.E85E	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	85	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)													0.586907	1771.14998	1777.002602	520	366	KEEP	---	---	---	---	capture		Silent	SNP	158300659	158300659	3102	1	C	T	T	T	311	24	CD1B	2	2
CD1B	910	broad.mit.edu	37	1	158300748	158300748	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158300748G>T	uc001frx.2	-	c.166C>A	c.(166-168)CAT>AAT	p.H56N	CD1B_uc001frw.2_5'UTR|CD1B_uc010pic.1_Missense_Mutation_p.H56N	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	56	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)													0.626822	1361.326656	1371.002142	430	256	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158300748	158300748	3102	1	G	T	T	T	585	45	CD1B	2	2
OR10K2	391107	broad.mit.edu	37	1	158389908	158389908	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158389908A>G	uc010pii.1	-	c.749T>C	c.(748-750)GTC>GCC	p.V250A		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	250	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.083004	5.186721	49.91001	21	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158389908	158389908	11320	1	A	G	G	G	130	10	OR10K2	4	4
OR10K2	391107	broad.mit.edu	37	1	158390136	158390136	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158390136A>T	uc010pii.1	-	c.521T>A	c.(520-522)CTA>CAA	p.L174Q		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	174	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)													0.33908	338.257465	346.217963	118	230	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158390136	158390136	11320	1	A	T	T	T	195	15	OR10K2	3	3
OR10K1	391109	broad.mit.edu	37	1	158436204	158436204	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158436204T>G	uc010pij.1	+	c.853T>G	c.(853-855)TTC>GTC	p.F285V		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	285	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.312292	280.545977	289.984456	94	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158436204	158436204	11319	1	T	G	G	G	780	60	OR10K1	4	4
OR6Y1	391112	broad.mit.edu	37	1	158517482	158517482	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158517482T>C	uc010pil.1	-	c.414A>G	c.(412-414)CCA>CCG	p.P138P		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)													0.375	175.317121	177.5266	60	100	KEEP	---	---	---	---	capture		Silent	SNP	158517482	158517482	11624	1	T	C	C	C	704	55	OR6Y1	4	4
SPTA1	6708	broad.mit.edu	37	1	158612234	158612234	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158612234A>G	uc001fst.1	-	c.4704T>C	c.(4702-4704)TGT>TGC	p.C1568C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1568	Spectrin 15.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.295775	189.979718	197.903674	63	150	KEEP	---	---	---	---	capture		Silent	SNP	158612234	158612234	15630	1	A	G	G	G	180	14	SPTA1	4	4
SPTA1	6708	broad.mit.edu	37	1	158632543	158632543	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158632543C>A	uc001fst.1	-	c.2413G>T	c.(2413-2415)GAG>TAG	p.E805*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	805	Spectrin 9.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.539823	186.965179	187.119601	61	52	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158632543	158632543	15630	1	C	A	A	A	377	29	SPTA1	5	2
SPTA1	6708	broad.mit.edu	37	1	158641213	158641213	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158641213A>T	uc001fst.1	-	c.1519T>A	c.(1519-1521)TCA>ACA	p.S507T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	507	Spectrin 6.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.270833	68.628881	73.162701	26	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158641213	158641213	15630	1	A	T	T	T	143	11	SPTA1	3	3
SPTA1	6708	broad.mit.edu	37	1	158653253	158653253	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158653253C>A	uc001fst.1	-	c.298G>T	c.(298-300)GAG>TAG	p.E100*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	100	Spectrin 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.251701	88.901307	97.137391	37	110	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158653253	158653253	15630	1	C	A	A	A	416	32	SPTA1	5	2
OR6K3	391114	broad.mit.edu	37	1	158687131	158687131	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158687131A>C	uc010pip.1	-	c.823T>G	c.(823-825)TTG>GTG	p.L275V		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	275	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)													0.142308	45.585542	77.69028	37	223	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158687131	158687131	11613	1	A	C	C	C	37	3	OR6K3	4	4
OR6N2	81442	broad.mit.edu	37	1	158746545	158746545	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158746545T>G	uc010pir.1	-	c.881A>C	c.(880-882)AAC>ACC	p.N294T		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	294	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)													0.267974	446.489005	476.283913	164	448	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158746545	158746545	11617	1	T	G	G	G	780	60	OR6N2	4	4
DNAJC16	23341	broad.mit.edu	37	1	15874838	15874838	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:15874838T>A	uc001aws.2	+	c.938T>A	c.(937-939)ATG>AAG	p.M313K	DNAJC16_uc001awr.1_Missense_Mutation_p.M313K|DNAJC16_uc001awt.2_Missense_Mutation_p.M1K	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	313	Cytoplasmic (Potential).				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			urinary_tract(1)|lung(1)|kidney(1)	3		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)										0.157895	24.097991	32.541339	12	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15874838	15874838	4818	1	T	A	A	A	663	51	DNAJC16	3	3
PYHIN1	149628	broad.mit.edu	37	1	158913695	158913695	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158913695G>T	uc001ftb.2	+	c.1118G>T	c.(1117-1119)CGA>CTA	p.R373L	PYHIN1_uc001ftc.2_Missense_Mutation_p.R364L|PYHIN1_uc001ftd.2_Missense_Mutation_p.R373L|PYHIN1_uc001fte.2_Missense_Mutation_p.R364L	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	373	HIN-200.				cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.589286	216.368555	217.149183	66	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158913695	158913695	13323	1	G	T	T	T	481	37	PYHIN1	1	1
CADM3	57863	broad.mit.edu	37	1	159161833	159161833	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159161833G>T	uc001ftk.2	+	c.298G>T	c.(298-300)GCT>TCT	p.A100S	CADM3_uc009wsx.1_Missense_Mutation_p.A100S|CADM3_uc009wsy.1_Missense_Mutation_p.A66S|CADM3_uc001ftl.2_Missense_Mutation_p.A66S	NM_021189	NP_067012	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 1	66	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)													0.577181	269.155063	269.92748	86	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159161833	159161833	2684	1	G	T	T	T	598	46	CADM3	2	2
CADM3	57863	broad.mit.edu	37	1	159163278	159163278	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159163278C>A	uc001ftk.2	+	c.550C>A	c.(550-552)CTA>ATA	p.L184I	CADM3_uc009wsx.1_Missense_Mutation_p.L184I|CADM3_uc009wsy.1_Missense_Mutation_p.L150I|CADM3_uc001ftl.2_Missense_Mutation_p.L150I	NM_021189	NP_067012	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 1	150	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)													0.227545	82.042403	93.447562	38	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159163278	159163278	2684	1	C	A	A	A	311	24	CADM3	2	2
DARC	2532	broad.mit.edu	37	1	159175960	159175960	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159175960A>T	uc001ftp.3	+	c.737A>T	c.(736-738)AAT>ATT	p.N246I	DARC_uc001fto.2_Missense_Mutation_p.N244I	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform a	244	Cytoplasmic (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)													0.273743	126.494843	134.753363	49	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159175960	159175960	4407	1	A	T	T	T	52	4	DARC	3	3
DARC	2532	broad.mit.edu	37	1	159176115	159176115	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159176115C>G	uc001ftp.3	+	c.892C>G	c.(892-894)CAC>GAC	p.H298D	DARC_uc001fto.2_Missense_Mutation_p.H296D	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform a	296	Helical; Name=7; (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)													0.308962	386.06886	399.857802	131	293	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159176115	159176115	4407	1	C	G	G	G	325	25	DARC	3	3
DDI2	84301	broad.mit.edu	37	1	15970134	15970134	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:15970134G>T	uc001awx.1	+	c.878G>T	c.(877-879)AGG>ATG	p.R293M	DDI2_uc009voj.1_Missense_Mutation_p.R34M	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	DNA-damage inducible protein 2	293					proteolysis		aspartic-type endopeptidase activity				0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)										0.318182	136.026794	140.548718	49	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15970134	15970134	4500	1	G	T	T	T	455	35	DDI2	2	2
FCRL6	343413	broad.mit.edu	37	1	159779402	159779402	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159779402G>T	uc001fud.3	+	c.815G>T	c.(814-816)GGG>GTG	p.G272V	FCRL6_uc001fuc.2_Missense_Mutation_p.G279V|FCRL6_uc009wsz.1_Missense_Mutation_p.G177V|FCRL6_uc009wta.2_Missense_Mutation_p.G272V	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	272	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)	2	all_hematologic(112;0.0597)													0.340541	340.891818	349.228638	126	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159779402	159779402	6036	1	G	T	T	T	559	43	FCRL6	2	2
VSIG8	391123	broad.mit.edu	37	1	159825855	159825855	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159825855G>T	uc001fuh.2	-	c.789C>A	c.(787-789)GGC>GGA	p.G263G	C1orf204_uc001fuf.1_5'Flank|C1orf204_uc001fug.1_5'Flank	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	263	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1	all_hematologic(112;0.0597)													0.411765	21.372225	21.473237	7	10	KEEP	---	---	---	---	capture		Silent	SNP	159825855	159825855	17794	1	G	T	T	T	483	38	VSIG8	1	1
SLAMF1	6504	broad.mit.edu	37	1	160582354	160582354	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160582354A>C	uc001fwl.3	-	c.881T>G	c.(880-882)CTT>CGT	p.L294R	SLAMF1_uc010pjk.1_Non-coding_Transcript|SLAMF1_uc010pjl.1_Non-coding_Transcript|SLAMF1_uc010pjm.1_Non-coding_Transcript	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	294	Cytoplasmic (Potential).|Ig-like V-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)											0.342857	60.072641	61.602558	24	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160582354	160582354	14862	1	A	C	C	C	39	3	SLAMF1	4	4
LY9	4063	broad.mit.edu	37	1	160783596	160783596	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:160783596G>C	uc001fwu.2	+	c.625G>C	c.(625-627)GTC>CTC	p.V209L	LY9_uc010pjs.1_Missense_Mutation_p.V209L|LY9_uc001fwv.2_Missense_Mutation_p.V209L|LY9_uc001fww.2_Missense_Mutation_p.V209L|LY9_uc001fwx.2_Missense_Mutation_p.V209L|LY9_uc001fwy.1_Missense_Mutation_p.V111L|LY9_uc001fwz.2_5'Flank	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9 isoform a	209	Extracellular (Potential).|Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)											0.28777	225.64034	236.779268	80	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160783596	160783596	9478	1	G	C	C	C	520	40	LY9	3	3
DUSP12	11266	broad.mit.edu	37	1	161726734	161726734	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:161726734A>G	uc001gbo.2	+	c.1020A>G	c.(1018-1020)ATA>ATG	p.I340M	DUSP12_uc001gbp.2_Missense_Mutation_p.I210M	NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	340					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)	1	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)											0.682927	96.411243	97.631096	28	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161726734	161726734	4997	1	A	G	G	G	202	16	DUSP12	4	4
UCK2	7371	broad.mit.edu	37	1	165865547	165865547	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165865547G>T	uc001gdp.2	+	c.477G>T	c.(475-477)GCG>GCT	p.A159A	UCK2_uc010plb.1_Intron	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	159					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			ovary(1)	1	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)													0.32	376.77348	388.943783	136	289	KEEP	---	---	---	---	capture		Silent	SNP	165865547	165865547	17482	1	G	T	T	T	496	39	UCK2	1	1
FAM78B	149297	broad.mit.edu	37	1	166039936	166039936	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:166039936C>G	uc001gdr.2	-	c.328G>C	c.(328-330)GTG>CTG	p.V110L	FAM78B_uc010plc.1_Non-coding_Transcript|FAM78B_uc001gdq.2_5'Flank	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	110										central_nervous_system(1)	1	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)													0.26383	165.842634	177.696442	62	173	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166039936	166039936	5853	1	C	G	G	G	234	18	FAM78B	3	3
MAEL	84944	broad.mit.edu	37	1	166974517	166974517	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:166974517T>G	uc001gdy.1	+	c.728T>G	c.(727-729)CTC>CGC	p.L243R	MAEL_uc001gdz.1_Missense_Mutation_p.L212R|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	243					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1														0.252174	70.915402	77.334586	29	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166974517	166974517	9531	1	T	G	G	G	702	54	MAEL	4	4
DUSP27	92235	broad.mit.edu	37	1	167096180	167096180	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167096180C>A	uc001geb.1	+	c.1812C>A	c.(1810-1812)AAC>AAA	p.N604K		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	604					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.656863	222.252702	224.469663	67	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167096180	167096180	5009	1	C	A	A	A	220	17	DUSP27	2	2
DUSP27	92235	broad.mit.edu	37	1	167097596	167097596	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167097596G>T	uc001geb.1	+	c.3228G>T	c.(3226-3228)AAG>AAT	p.K1076N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	1076					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3														0.616279	171.689635	172.708314	53	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167097596	167097596	5009	1	G	T	T	T	464	36	DUSP27	2	2
ADCY10	55811	broad.mit.edu	37	1	167825445	167825445	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167825445C>A	uc001ger.2	-	c.2129G>T	c.(2128-2130)TGT>TTT	p.C710F	ADCY10_uc009wvk.2_Missense_Mutation_p.C618F|ADCY10_uc010plj.1_Missense_Mutation_p.C557F|ADCY10_uc009wvl.2_Missense_Mutation_p.C709F	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	710					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3														0.274262	352.663498	374.410461	130	344	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167825445	167825445	294	1	C	A	A	A	221	17	ADCY10	2	2
F5	2153	broad.mit.edu	37	1	169489849	169489849	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169489849T>A	uc001ggg.1	-	c.6102A>T	c.(6100-6102)CCA>CCT	p.P2034P		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	2034	F5/8 type C 1.				cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)	5	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)									0.266667	44.374141	47.32397	16	44	KEEP	---	---	---	---	capture		Silent	SNP	169489849	169489849	5542	1	T	A	A	A	756	59	F5	3	3
SELP	6403	broad.mit.edu	37	1	169559394	169559394	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:169559394T>G	uc001ggi.3	-	c.2485A>C	c.(2485-2487)AGT>CGT	p.S829R	SELP_uc001ggh.2_Missense_Mutation_p.S624R|SELP_uc009wvr.2_Missense_Mutation_p.S828R	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	829	Interaction with SNX17.|Cytoplasmic (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)									0.298851	66.409979	69.559945	26	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169559394	169559394	14505	1	T	G	G	G	702	54	SELP	4	4
VAMP4	8674	broad.mit.edu	37	1	171675514	171675514	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171675514C>A	uc001ghx.1	-	c.390G>T	c.(388-390)GTG>GTT	p.V130V	VAMP4_uc001ghw.1_Non-coding_Transcript|VAMP4_uc001ghy.1_Silent_p.V129V|VAMP4_uc001ghv.1_Non-coding_Transcript	NM_003762	NP_003753	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	130	Helical; Anchor for type IV membrane protein; (Potential).				vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome					0	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)													0.615385	355.71625	357.835015	112	70	KEEP	---	---	---	---	capture		Silent	SNP	171675514	171675514	17680	1	C	A	A	A	366	29	VAMP4	2	2
FASLG	356	broad.mit.edu	37	1	172629278	172629278	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:172629278T>C	uc001gis.2	+	c.392T>C	c.(391-393)ATA>ACA	p.I131T	FASLG_uc001git.2_Intron	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	131	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity				0						Ovarian(28;486 876 30334 44033)				69				0.27044	126.948525	134.512868	43	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172629278	172629278	5918	1	T	C	C	C	637	49	FASLG	4	4
CROCC	9696	broad.mit.edu	37	1	17266478	17266478	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17266478A>T	uc001azt.2	+	c.1698A>T	c.(1696-1698)CTA>CTT	p.L566L	CROCC_uc009voy.1_Silent_p.L269L|CROCC_uc009voz.1_Silent_p.L329L|CROCC_uc001azu.2_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	566	Potential.				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)	4		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)										0.548387	50.96708	51.030393	17	14	KEEP	---	---	---	---	capture		Silent	SNP	17266478	17266478	4032	1	A	T	T	T	184	15	CROCC	3	3
TNFSF4	7292	broad.mit.edu	37	1	173155714	173155714	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173155714C>A	uc001giw.2	-	c.493G>T	c.(493-495)GTG>TTG	p.V165L	TNFSF4_uc001giv.2_Missense_Mutation_p.V115L	NM_003326	NP_003317	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily,	165	Extracellular (Potential).				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of gene-specific transcription|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			central_nervous_system(1)	1														0.382857	202.265344	204.376866	67	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173155714	173155714	16851	1	C	A	A	A	221	17	TNFSF4	2	2
ANKRD45	339416	broad.mit.edu	37	1	173628467	173628467	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173628467C>T	uc001gja.1	-	c.91G>A	c.(91-93)GAG>AAG	p.E31K	ANKRD45_uc001gjb.3_Missense_Mutation_p.E31K	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	47											0														0.292308	53.597786	56.109261	19	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	173628467	173628467	681	1	C	T	T	T	416	32	ANKRD45	2	2
GPR52	9293	broad.mit.edu	37	1	174417408	174417408	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:174417408G>C	uc001gka.1	+	c.159G>C	c.(157-159)CTG>CTC	p.L53L	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	53	Helical; Name=1; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0						Ovarian(92;924 1390 1930 16467 40583)								0.311258	140.576173	145.363095	47	104	KEEP	---	---	---	---	capture		Silent	SNP	174417408	174417408	6973	1	G	C	C	C	574	45	GPR52	3	3
TNN	63923	broad.mit.edu	37	1	175048527	175048527	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175048527C>A	uc001gkl.1	+	c.468C>A	c.(466-468)CAC>CAA	p.H156Q	TNN_uc010pmx.1_Missense_Mutation_p.H156Q	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	156					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				0.75	9.534991	9.753977	3	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175048527	175048527	16864	1	C	A	A	A	259	20	TNN	2	2
TNN	63923	broad.mit.edu	37	1	175048830	175048830	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175048830G>T	uc001gkl.1	+	c.771G>T	c.(769-771)CTG>CTT	p.L257L	TNN_uc010pmx.1_Silent_p.L257L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	257	EGF-like 3.				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				0.346154	26.474463	27.014369	9	17	KEEP	---	---	---	---	capture		Silent	SNP	175048830	175048830	16864	1	G	T	T	T	600	47	TNN	2	2
TNN	63923	broad.mit.edu	37	1	175097746	175097746	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175097746C>A	uc001gkl.1	+	c.3194C>A	c.(3193-3195)CCA>CAA	p.P1065Q		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1065	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)						470				0.202128	116.297557	139.577533	57	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175097746	175097746	16864	1	C	A	A	A	273	21	TNN	2	2
TNR	7143	broad.mit.edu	37	1	175372735	175372735	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175372735G>A	uc001gkp.1	-	c.517C>T	c.(517-519)CCT>TCT	p.P173S	TNR_uc009wwu.1_Missense_Mutation_p.P173S|TNR_uc010pmz.1_Missense_Mutation_p.P173S	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	173	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.261438	104.635782	112.513377	40	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175372735	175372735	16879	1	G	A	A	A	559	43	TNR	2	2
PADI3	51702	broad.mit.edu	37	1	17601181	17601181	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17601181G>T	uc001bai.2	+	c.1207G>T	c.(1207-1209)GGC>TGC	p.G403C		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	403					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)							OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.30137	59.940601	62.50217	22	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17601181	17601181	11795	1	G	T	T	T	611	47	PADI3	2	2
PAPPA2	60676	broad.mit.edu	37	1	176526166	176526166	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176526166G>A	uc001gkz.2	+	c.708G>A	c.(706-708)CCG>CCA	p.P236P	PAPPA2_uc001gky.1_Silent_p.P236P|PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	236					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.29682	466.325789	487.194728	168	398	KEEP	---	---	---	---	capture		Silent	SNP	176526166	176526166	11850	1	G	A	A	A	496	39	PAPPA2	1	1
PAPPA2	60676	broad.mit.edu	37	1	176769233	176769233	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176769233G>T	uc001gkz.2	+	c.5167G>T	c.(5167-5169)GAC>TAC	p.D1723Y	PAPPA2_uc009www.2_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	1723	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.685921	583.233535	591.778331	190	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176769233	176769233	11850	1	G	T	T	T	429	33	PAPPA2	2	2
PADI4	23569	broad.mit.edu	37	1	17682564	17682564	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17682564G>A	uc001baj.2	+	c.1397G>A	c.(1396-1398)TGG>TAG	p.W466*		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	466					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)									0.333333	57.979681	59.455878	20	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	17682564	17682564	11796	1	G	A	A	A	611	47	PADI4	5	2
ASTN1	460	broad.mit.edu	37	1	176853573	176853573	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176853573C>A	uc001glc.2	-	c.3128G>T	c.(3127-3129)TGG>TTG	p.W1043L	ASTN1_uc001glb.1_Missense_Mutation_p.W1043L|ASTN1_uc001gld.1_Missense_Mutation_p.W1043L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1051	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.277228	144.626987	153.641189	56	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176853573	176853573	1083	1	C	A	A	A	273	21	ASTN1	2	2
ASTN1	460	broad.mit.edu	37	1	176857284	176857284	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176857284G>T	uc001glc.2	-	c.2997C>A	c.(2995-2997)ATC>ATA	p.I999I	ASTN1_uc001glb.1_Silent_p.I999I|ASTN1_uc001gld.1_Silent_p.I999I	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	1007					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.25	83.411134	90.912563	33	99	KEEP	---	---	---	---	capture		Silent	SNP	176857284	176857284	1083	1	G	T	T	T	473	37	ASTN1	1	1
ASTN1	460	broad.mit.edu	37	1	176983956	176983957	+	Nonsense_Mutation	DNP	GC	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:176983956_176983957GC>TT	uc001glc.2	-	c.1493_1494GC>AA	c.(1492-1494)TGC>TAA	p.C498*	ASTN1_uc001glb.1_Nonsense_Mutation_p.C498*|ASTN1_uc001gld.1_Nonsense_Mutation_p.C498*|ASTN1_uc009wwx.1_Nonsense_Mutation_p.C498*|ASTN1_uc001gle.3_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	506	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.263398	620.293344	664.526823	231	646	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	176983956	176983957	1083	1	GC	TT	TT	TT	594	46	ASTN1	5	2
ASTN1	460	broad.mit.edu	37	1	177133590	177133590	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177133590G>T	uc001glc.2	-	c.223C>A	c.(223-225)CCG>ACG	p.P75T	ASTN1_uc001glb.1_Missense_Mutation_p.P75T|ASTN1_uc001gld.1_Missense_Mutation_p.P75T|ASTN1_uc009wwx.1_Missense_Mutation_p.P75T	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	75					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	11										849				0.382979	102.17801	103.306369	36	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177133590	177133590	1083	1	G	T	T	T	559	43	ASTN1	2	2
FAM5B	57795	broad.mit.edu	37	1	177250527	177250527	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177250527G>C	uc001glf.2	+	c.2215G>C	c.(2215-2217)GAC>CAC	p.D739H	FAM5B_uc001glg.2_Missense_Mutation_p.D634H	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	739						extracellular region				ovary(2)	2														0.321739	225.980601	232.466218	74	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177250527	177250527	5816	1	G	C	C	C	585	45	FAM5B	3	3
RASAL2	9462	broad.mit.edu	37	1	178412287	178412287	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:178412287C>A	uc001glq.2	+	c.1405C>A	c.(1405-1407)CCA>ACA	p.P469T	RASAL2_uc001glr.2_Missense_Mutation_p.P321T	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 2	321					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5														0.28	106.117798	112.626778	42	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178412287	178412287	13525	1	C	A	A	A	338	26	RASAL2	2	2
TDRD5	163589	broad.mit.edu	37	1	179562685	179562685	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:179562685G>T	uc010pnp.1	+	c.323G>T	c.(322-324)AGA>ATA	p.R108I	TDRD5_uc001gnf.1_Missense_Mutation_p.R108I	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	108					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|central_nervous_system(1)|skin(1)	4														0.557895	162.076265	162.352637	53	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179562685	179562685	16260	1	G	T	T	T	429	33	TDRD5	2	2
CEP350	9857	broad.mit.edu	37	1	180006108	180006108	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180006108G>T	uc001gnt.2	+	c.3994G>T	c.(3994-3996)GAA>TAA	p.E1332*	CEP350_uc009wxl.2_Nonsense_Mutation_p.E1331*|CEP350_uc001gnu.2_Nonsense_Mutation_p.E1165*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1332						centrosome|nucleus|spindle				ovary(4)	4														0.3	7.921124	8.278497	3	7	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	180006108	180006108	3387	1	G	T	T	T	429	33	CEP350	5	2
QSOX1	5768	broad.mit.edu	37	1	180163465	180163465	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180163465G>T	uc001gnz.2	+	c.1406G>T	c.(1405-1407)AGT>ATT	p.S469I	QSOX1_uc001gny.2_Missense_Mutation_p.S469I|QSOX1_uc001goa.2_Missense_Mutation_p.S469I|QSOX1_uc001goc.2_Missense_Mutation_p.S11I	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	469	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|oxidation-reduction process|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2														0.32	81.864723	84.743726	32	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180163465	180163465	13341	1	G	T	T	T	468	36	QSOX1	2	2
KIAA1614	57710	broad.mit.edu	37	1	180885637	180885637	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180885637C>A	uc001gok.2	+	c.398C>A	c.(397-399)TCT>TAT	p.S133Y		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	133										ovary(3)	3														0.38	51.116152	51.746352	19	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180885637	180885637	8557	1	C	A	A	A	416	32	KIAA1614	2	2
KIAA1614	57710	broad.mit.edu	37	1	180904852	180904852	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:180904852G>T	uc001gok.2	+	c.1807G>T	c.(1807-1809)GTG>TTG	p.V603L	KIAA1614_uc001gol.1_Missense_Mutation_p.V224L|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	603										ovary(3)	3														0.293333	62.827942	65.690977	22	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180904852	180904852	8557	1	G	T	T	T	520	40	KIAA1614	1	1
CACNA1E	777	broad.mit.edu	37	1	181701863	181701863	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181701863C>G	uc001gow.2	+	c.2641C>G	c.(2641-2643)CCA>GCA	p.P881A	CACNA1E_uc009wxs.2_Missense_Mutation_p.P769A|CACNA1E_uc001gox.1_Missense_Mutation_p.P107A|CACNA1E_uc009wxt.2_Missense_Mutation_p.P107A	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	881	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.171429	11.153448	14.707403	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181701863	181701863	2658	1	C	G	G	G	338	26	CACNA1E	3	3
CACNA1E	777	broad.mit.edu	37	1	181767893	181767893	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:181767893G>T	uc001gow.2	+	c.6736G>T	c.(6736-6738)GGG>TGG	p.G2246W	CACNA1E_uc009wxs.2_Missense_Mutation_p.G2134W|CACNA1E_uc009wxt.2_Missense_Mutation_p.G1515W	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2289	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6														0.25	7.719015	8.400887	3	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	181767893	181767893	2658	1	G	T	T	T	507	39	CACNA1E	1	1
RGS8	85397	broad.mit.edu	37	1	182615997	182615997	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:182615997G>T	uc001gpm.1	-	c.470C>A	c.(469-471)TCC>TAC	p.S157Y	RGS8_uc010pnw.1_Missense_Mutation_p.S139Y|RGS8_uc001gpn.1_Missense_Mutation_p.S139Y	NM_033345	NP_203131	P57771	RGS8_HUMAN	regulator of G-protein signalling 8 isoform 1	139	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)	1						Ovarian(189;1262 3804 41973)								0.614286	389.892807	392.29316	129	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182615997	182615997	13786	1	G	T	T	T	533	41	RGS8	2	2
NMNAT2	23057	broad.mit.edu	37	1	183230190	183230190	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183230190C>A	uc001gqc.1	-	c.768G>T	c.(766-768)GTG>GTT	p.V256V	NMNAT2_uc009wye.1_Non-coding_Transcript|NMNAT2_uc001gqb.1_Silent_p.V251V	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	nicotinamide mononucleotide adenylyltransferase	256					NAD biosynthetic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0														0.587963	414.670877	416.135315	127	89	KEEP	---	---	---	---	capture		Silent	SNP	183230190	183230190	10902	1	C	A	A	A	262	21	NMNAT2	2	2
GLT25D2	23127	broad.mit.edu	37	1	183909826	183909826	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:183909826A>G	uc001gqr.2	-	c.1493T>C	c.(1492-1494)CTG>CCG	p.L498P	GLT25D2_uc010poj.1_Missense_Mutation_p.L498P|GLT25D2_uc001gqp.2_Missense_Mutation_p.L106P|GLT25D2_uc001gqq.2_Missense_Mutation_p.L235P|GLT25D2_uc001gqs.2_Missense_Mutation_p.L378P	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	glycosyltransferase 25 domain containing 2	498					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			ovary(1)|breast(1)	2						Esophageal Squamous(10;42 606 18489 38825)								0.586207	319.945745	321.071926	102	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183909826	183909826	6735	1	A	G	G	G	91	7	GLT25D2	4	4
IGSF21	84966	broad.mit.edu	37	1	18554472	18554472	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:18554472G>A	uc001bau.1	+	c.151G>A	c.(151-153)GAT>AAT	p.D51N		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	51	Ig-like 1.					extracellular region				ovary(2)|large_intestine(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)										0.302632	125.691957	130.977809	46	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18554472	18554472	7900	1	G	A	A	A	429	33	IGSF21	2	2
HMCN1	83872	broad.mit.edu	37	1	185931768	185931768	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:185931768T>C	uc001grq.1	+	c.1947T>C	c.(1945-1947)GAT>GAC	p.D649D	HMCN1_uc001grr.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	649	Ig-like C2-type 3.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.348901	399.131166	406.45753	127	237	KEEP	---	---	---	---	capture		Silent	SNP	185931768	185931768	7511	1	T	C	C	C	634	49	HMCN1	4	4
HMCN1	83872	broad.mit.edu	37	1	186050512	186050512	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186050512G>T	uc001grq.1	+	c.8773G>T	c.(8773-8775)GGA>TGA	p.G2925*		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2925	Ig-like C2-type 27.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.337143	339.219005	347.393081	118	232	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	186050512	186050512	7511	1	G	T	T	T	611	47	HMCN1	5	2
OCLM	10896	broad.mit.edu	37	1	186370202	186370202	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186370202T>G	uc001gry.2	+	c.25T>G	c.(25-27)TTA>GTA	p.L9V	C1orf27_uc001grw.2_Intron|C1orf27_uc010poq.1_Intron|C1orf27_uc010por.1_Intron	NM_022375	NP_071770	Q9Y5M6	TISR_HUMAN	oculomedin	9					visual perception						0														0.08311	8.332174	74.240406	31	342	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186370202	186370202	11224	1	T	G	G	G	777	60	OCLM	4	4
IGSF21	84966	broad.mit.edu	37	1	18688691	18688691	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:18688691C>A	uc001bau.1	+	c.507C>A	c.(505-507)GTC>GTA	p.V169V	IGSF21_uc001bav.1_De_novo_Start_OutOfFrame	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	169						extracellular region				ovary(2)|large_intestine(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)										0.481481	37.872235	37.880344	13	14	KEEP	---	---	---	---	capture		Silent	SNP	18688691	18688691	7900	1	C	A	A	A	405	32	IGSF21	2	2
PLA2G4A	5321	broad.mit.edu	37	1	186916013	186916013	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186916013G>T	uc001gsc.2	+	c.1184G>T	c.(1183-1185)AGT>ATT	p.S395I	PLA2G4A_uc010pos.1_Missense_Mutation_p.S335I	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	395	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(1)	1					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)									0.604545	426.709757	428.811914	133	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186916013	186916013	12427	1	G	T	T	T	468	36	PLA2G4A	2	2
PLA2G4A	5321	broad.mit.edu	37	1	186925348	186925348	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186925348G>T	uc001gsc.2	+	c.1451G>T	c.(1450-1452)GGA>GTA	p.G484V	PLA2G4A_uc010pos.1_Missense_Mutation_p.G424V	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	484	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(1)	1					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)									0.585	350.982636	352.244231	117	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186925348	186925348	12427	1	G	T	T	T	533	41	PLA2G4A	2	2
TAS1R2	80834	broad.mit.edu	37	1	19166621	19166621	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19166621G>C	uc001bba.1	-	c.1992C>G	c.(1990-1992)CGC>CGG	p.R664R		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	664	Cytoplasmic (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)									0.353741	147.045688	149.866119	52	95	KEEP	---	---	---	---	capture		Silent	SNP	19166621	19166621	16085	1	G	C	C	C	431	34	TAS1R2	3	3
KIAA1751	85452	broad.mit.edu	37	1	1920039	1920039	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1920039C>A	uc009vkz.1	-	c.208G>T	c.(208-210)GAC>TAC	p.D70Y	KIAA1751_uc001aim.1_Missense_Mutation_p.D70Y|KIAA1751_uc001ain.1_Missense_Mutation_p.D70Y	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	70										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)										0.285714	40.476096	42.784236	16	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1920039	1920039	8567	1	C	A	A	A	390	30	KIAA1751	2	2
KIAA1751	85452	broad.mit.edu	37	1	1920383	1920383	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1920383C>A	uc009vkz.1	-	c.97G>T	c.(97-99)GAC>TAC	p.D33Y	KIAA1751_uc001aim.1_Missense_Mutation_p.D33Y|KIAA1751_uc001ain.1_Missense_Mutation_p.D33Y	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	33										pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)										0.258065	20.184453	21.829477	8	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1920383	1920383	8567	1	C	A	A	A	377	29	KIAA1751	2	2
B3GALT2	8707	broad.mit.edu	37	1	193150639	193150640	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:193150639_193150640GG>TT	uc001gtc.3	-	c.53_54CC>AA	c.(52-54)GCC>GAA	p.A18E	CDC73_uc001gtb.2_Intron	NM_003783	NP_003774	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta	18	Cytoplasmic (Potential).				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(1)	1														0.164474	50.183972	66.426009	25	127	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	193150639	193150640	1269	1	GG	TT	TT	TT	600	47	B3GALT2	2	2
UBR4	23352	broad.mit.edu	37	1	19442079	19442079	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19442079C>T	uc001bbi.2	-	c.10876G>A	c.(10876-10878)GAG>AAG	p.E3626K	UBR4_uc001bbj.1_Missense_Mutation_p.E41K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3626					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)	23		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)										0.326667	277.128853	285.13639	98	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19442079	19442079	17462	1	C	T	T	T	416	32	UBR4	2	2
MRTO4	51154	broad.mit.edu	37	1	19582447	19582447	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19582447G>T	uc001bbs.2	+	c.93G>T	c.(91-93)CGG>CGT	p.R31R		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog	31					ribosome biogenesis	nuclear membrane|nucleolus					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GBM(192;2418 3032 7540 48714)								0.111111	2.60995	6.643622	3	24	KEEP	---	---	---	---	capture		Silent	SNP	19582447	19582447	10245	1	G	T	T	T	522	41	MRTO4	2	2
KCNT2	343450	broad.mit.edu	37	1	196577362	196577362	+	Silent	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196577362T>G	uc001gtd.1	-	c.78A>C	c.(76-78)GGA>GGC	p.G26G	KCNT2_uc001gte.1_Silent_p.G26G|KCNT2_uc001gtf.1_Silent_p.G26G|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.2_Silent_p.G26G|KCNT2_uc009wyv.1_Silent_p.G26G	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	26	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														0.051813	-17.980653	23.001594	10	183	KEEP	---	---	---	---	capture		Silent	SNP	196577362	196577362	8397	1	T	G	G	G	639	50	KCNT2	4	4
CFHR3	10878	broad.mit.edu	37	1	196749059	196749059	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196749059G>A	uc001gtl.2	+	c.386G>A	c.(385-387)TGT>TAT	p.C129Y	CFHR3_uc001gtk.2_Missense_Mutation_p.C129Y|CFHR3_uc010poy.1_Missense_Mutation_p.C129Y|CFHR1_uc001gtm.2_Intron	NM_021023	NP_066303	Q02985	FHR3_HUMAN	complement factor H-related 3 precursor	129	Sushi 2.					extracellular space					0														0.274336	154.443244	164.816874	62	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196749059	196749059	3419	1	G	A	A	A	624	48	CFHR3	2	2
CFHR1	3078	broad.mit.edu	37	1	196797377	196797377	+	Splice_Site_SNP	SNP	G	T	T	rs112994000		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:196797377G>T	uc001gtn.2	+	c.607_splice	c.e4+1	p.D203_splice	CFHR1_uc001gtm.2_Splice_Site_SNP_p.D107_splice	NM_002113	NP_002104			complement factor H-related 1 precursor						complement activation	extracellular space					0														0.701031	236.13767	239.641637	68	29	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	196797377	196797377	3417	1	G	T	T	T	572	44	CFHR1	5	2
DENND1B	163486	broad.mit.edu	37	1	197479707	197479707	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197479707T>C	uc010ppe.1	-	c.2151A>G	c.(2149-2151)AAA>AAG	p.K717K	DENND1B_uc010ppf.1_Non-coding_Transcript	NM_001142795	NP_001136267	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 1	Error:Variant_position_missing_in_Q6P3S1_after_alignment						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0														0.218354	188.709762	211.80384	69	247	KEEP	---	---	---	---	capture		Silent	SNP	197479707	197479707	4606	1	T	C	C	C	725	56	DENND1B	4	4
LMOD1	25802	broad.mit.edu	37	1	201869593	201869593	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:201869593A>G	uc001gxb.2	-	c.548T>C	c.(547-549)GTG>GCG	p.V183A	LMOD1_uc010ppu.1_Missense_Mutation_p.V132A	NM_012134	NP_036266	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	183	2.|8 X approximate tandem repeats.				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			ovary(1)|pancreas(1)|skin(1)	3														0.207317	31.426982	37.94254	17	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201869593	201869593	9185	1	A	G	G	G	78	6	LMOD1	4	4
UBE2T	29089	broad.mit.edu	37	1	202304773	202304773	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202304773C>A	uc001gxx.3	-	c.109_splice	c.e2+1	p.Q37_splice		NM_014176	NP_054895			ubiquitin-conjugating enzyme E2T						DNA repair|post-translational protein modification|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity				0														0.213198	99.9351	114.919453	42	155	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	202304773	202304773	17431	1	C	A	A	A	247	19	UBE2T	5	1
PPP1R12B	4660	broad.mit.edu	37	1	202391820	202391820	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202391820A>G	uc001gxz.1	+	c.495A>G	c.(493-495)GAA>GAG	p.E165E	PPP1R12B_uc001gxy.2_Silent_p.E165E|PPP1R12B_uc009xad.1_Intron|PPP1R12B_uc009xae.1_Silent_p.E165E|PPP1R12B_uc001gya.1_Silent_p.E165E	NM_032105	NP_115288	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	165					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)											0.169355	44.019689	56.834119	21	103	KEEP	---	---	---	---	capture		Silent	SNP	202391820	202391820	12790	1	A	G	G	G	37	3	PPP1R12B	4	4
KDM5B	10765	broad.mit.edu	37	1	202718210	202718210	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:202718210A>G	uc009xag.2	-	c.1987T>C	c.(1987-1989)TTT>CTT	p.F663L	KDM5B_uc001gyf.2_Missense_Mutation_p.F627L|KDM5B_uc001gyg.1_Missense_Mutation_p.F469L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	627					negative regulation of transcription, DNA-dependent|oxidation-reduction process	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5														0.725352	354.087398	360.550819	103	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202718210	202718210	8440	1	A	G	G	G	26	2	KDM5B	4	4
PPFIA4	8497	broad.mit.edu	37	1	203015032	203015032	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203015032G>T	uc010pqf.1	+	c.43G>T	c.(43-45)GCT>TCT	p.A15S	PPFIA4_uc009xaj.2_Missense_Mutation_p.A455S	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	Error:Variant_position_missing_in_O75335_after_alignment					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5														0.265517	191.700318	206.148196	77	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203015032	203015032	12742	1	G	T	T	T	586	46	PPFIA4	2	2
MYOG	4656	broad.mit.edu	37	1	203054839	203054839	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203054839C>A	uc001gzd.2	-	c.251G>T	c.(250-252)CGG>CTG	p.R84L		NM_002479	NP_002470	P15173	MYOG_HUMAN	myogenin	84	Basic motif.				muscle cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			skin(1)	1														0.254902	62.005329	67.566392	26	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203054839	203054839	10485	1	C	A	A	A	299	23	MYOG	1	1
PRELP	5549	broad.mit.edu	37	1	203453258	203453258	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203453258C>A	uc001gzs.2	+	c.946C>A	c.(946-948)CTG>ATG	p.L316M	PRELP_uc001gzt.2_Missense_Mutation_p.L316M	NM_002725	NP_002716	P51888	PRELP_HUMAN	proline arginine-rich end leucine-rich repeat	316	LRR 10.				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)											0.256637	71.522877	77.590665	29	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203453258	203453258	12916	1	C	A	A	A	311	24	PRELP	2	2
ZC3H11A	9877	broad.mit.edu	37	1	203809456	203809456	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203809456G>T	uc001hac.2	+	c.996G>T	c.(994-996)AAG>AAT	p.K332N	ZC3H11A_uc001had.2_Missense_Mutation_p.K332N|ZC3H11A_uc001hae.2_Missense_Mutation_p.K332N|ZC3H11A_uc001haf.2_Missense_Mutation_p.K332N|ZC3H11A_uc010pqm.1_Missense_Mutation_p.K278N|ZC3H11A_uc001hag.1_Missense_Mutation_p.K332N	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	332							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)											0.691892	423.253916	429.319977	128	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203809456	203809456	18148	1	G	T	T	T	451	35	ZC3H11A	2	2
REN	5972	broad.mit.edu	37	1	204130499	204130499	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204130499G>T	uc001haq.2	-	c.294C>A	c.(292-294)ACC>ACA	p.T98T		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	98					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			central_nervous_system(1)	1	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)									0.1875	13.232951	16.157628	6	26	KEEP	---	---	---	---	capture		Silent	SNP	204130499	204130499	13693	1	G	T	T	T	444	35	REN	2	2
LRRN2	10446	broad.mit.edu	37	1	204588546	204588546	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204588546T>C	uc001hbe.1	-	c.575A>G	c.(574-576)GAG>GGG	p.E192G	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.E192G|LRRN2_uc009xbf.1_Missense_Mutation_p.E192G|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	192	Extracellular (Potential).|LRR 6.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)											0.278107	127.411914	134.931246	47	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204588546	204588546	9411	1	T	C	C	C	702	54	LRRN2	4	4
NFASC	23114	broad.mit.edu	37	1	204945843	204945843	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204945843A>T	uc001hbj.2	+	c.1751A>T	c.(1750-1752)GAG>GTG	p.E584V	NFASC_uc001hbh.2_Missense_Mutation_p.E584V|NFASC_uc010pqz.1_Missense_Mutation_p.E578V|NFASC_uc010pra.1_Missense_Mutation_p.E595V|NFASC_uc001hbi.2_Missense_Mutation_p.E595V|NFASC_uc010prb.1_Missense_Mutation_p.E595V|NFASC_uc010prc.1_Missense_Mutation_p.E151V|NFASC_uc001hbk.1_Missense_Mutation_p.E405V	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	584	Extracellular (Potential).|Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)	4	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)											0.234797	317.388929	355.540345	139	453	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204945843	204945843	10759	1	A	T	T	T	143	11	NFASC	3	3
CTSE	1510	broad.mit.edu	37	1	206318450	206318450	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:206318450C>A	uc001hdu.2	+	c.208C>A	c.(208-210)CTC>ATC	p.L70I	CTSE_uc001hdv.2_Missense_Mutation_p.L70I|CTSE_uc010prs.1_Intron	NM_001910	NP_001901	P14091	CATE_HUMAN	cathepsin E isoform a preproprotein	70					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(75;0.0754)											0.260504	76.644891	82.847193	31	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206318450	206318450	4192	1	C	A	A	A	312	24	CTSE	2	2
CR1	1378	broad.mit.edu	37	1	207680057	207680057	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:207680057A>T	uc001hfx.2	+	c.302_splice	c.e3-2	p.R101_splice	CR1_uc009xcl.1_Splice_Site_SNP_p.R101_splice|CR1_uc001hfy.2_Splice_Site_SNP_p.R101_splice|CR1_uc010psg.1_Splice_Site_SNP_p.R101_splice|CR1_uc009xcj.1_Splice_Site_SNP_p.R101_splice|CR1_uc009xck.1_Splice_Site_SNP_p.R101_splice	NM_000651	NP_000642			complement receptor 1 isoform S precursor						complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3														0.266289	250.014535	267.417468	94	259	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	207680057	207680057	3979	1	A	T	T	T	195	15	CR1	5	3
LAMB3	3914	broad.mit.edu	37	1	209789870	209789870	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:209789870T>C	uc001hhg.2	-	c.3328A>G	c.(3328-3330)ACA>GCA	p.T1110A	LAMB3_uc009xco.2_Missense_Mutation_p.T1110A|LAMB3_uc001hhh.2_Missense_Mutation_p.T1110A	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	1110	Domain I.|Potential.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|large_intestine(1)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(81;0.0519)										0.281407	319.154751	336.23312	112	286	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209789870	209789870	8935	1	T	C	C	C	754	58	LAMB3	4	4
HSD11B1	3290	broad.mit.edu	37	1	209879155	209879155	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:209879155G>T	uc001hhj.2	+	c.89_splice	c.e3-1	p.E30_splice	HSD11B1_uc001hhk.2_Splice_Site_SNP_p.E30_splice	NM_181755	NP_861420			11-beta-hydroxysteroid dehydrogenase 1						glucocorticoid biosynthetic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)	1				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)									0.725086	662.599415	675.858744	211	80	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	209879155	209879155	7670	1	G	T	T	T	429	33	HSD11B1	5	2
C1orf107	27042	broad.mit.edu	37	1	210003483	210003483	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:210003483T>G	uc001hhr.1	+	c.138T>G	c.(136-138)ATT>ATG	p.I46M	C1orf107_uc009xcu.1_De_novo_Start_OutOfFrame	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	46					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)										0.142857	12.190588	18.214346	7	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210003483	210003483	2048	1	T	G	G	G	822	64	C1orf107	4	4
EIF4G3	8672	broad.mit.edu	37	1	21220026	21220026	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:21220026C>A	uc001bef.2	-	c.2066G>T	c.(2065-2067)GGT>GTT	p.G689V	EIF4G3_uc010odi.1_Missense_Mutation_p.G294V|EIF4G3_uc010odj.1_Missense_Mutation_p.G689V|EIF4G3_uc009vpz.2_Missense_Mutation_p.G410V|EIF4G3_uc001bec.2_Missense_Mutation_p.G690V|EIF4G3_uc001bed.2_Missense_Mutation_p.G690V|EIF4G3_uc001bee.2_Missense_Mutation_p.G696V	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	690					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity				0		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)										0.271523	106.105943	113.216837	41	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21220026	21220026	5229	1	C	A	A	A	234	18	EIF4G3	2	2
PTPN14	5784	broad.mit.edu	37	1	214557669	214557669	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214557669A>C	uc001hkk.1	-	c.1529T>G	c.(1528-1530)CTT>CGT	p.L510R	PTPN14_uc010pty.1_Missense_Mutation_p.L411R	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	510						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		Colon(92;557 1424 24372 34121 40073)								0.074205	-13.121743	39.897564	21	262	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214557669	214557669	13238	1	A	C	C	C	39	3	PTPN14	4	4
PTPN14	5784	broad.mit.edu	37	1	214576226	214576226	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214576226C>A	uc001hkk.1	-	c.581G>T	c.(580-582)AGT>ATT	p.S194I	PTPN14_uc010pty.1_Missense_Mutation_p.S95I	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	194	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		Colon(92;557 1424 24372 34121 40073)								0.239521	367.346225	408.865537	160	508	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	214576226	214576226	13238	1	C	A	A	A	312	24	PTPN14	2	2
KCTD3	51133	broad.mit.edu	37	1	215760009	215760009	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215760009G>T	uc001hks.2	+	c.798G>T	c.(796-798)GGG>GGT	p.G266G	KCTD3_uc001hkt.2_Silent_p.G266G|KCTD3_uc010pub.1_Silent_p.G164G|KCTD3_uc009xdn.2_Silent_p.G18G	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	potassium channel tetramerisation domain	266	WD 1.					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(2)	2				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)										0.234719	236.678138	263.063315	96	313	KEEP	---	---	---	---	capture		Silent	SNP	215760009	215760009	8416	1	G	T	T	T	548	43	KCTD3	2	2
USH2A	7399	broad.mit.edu	37	1	215940052	215940052	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215940052A>G	uc001hku.1	-	c.11018T>C	c.(11017-11019)CTA>CCA	p.L3673P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3673	Extracellular (Potential).|Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.244737	257.209261	279.752646	93	287	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215940052	215940052	17598	1	A	G	G	G	195	15	USH2A	4	4
USH2A	7399	broad.mit.edu	37	1	216052420	216052420	+	Silent	SNP	G	T	T	rs111033506		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216052420G>T	uc001hku.1	-	c.8244C>A	c.(8242-8244)CTC>CTA	p.L2748L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2748	Fibronectin type-III 14.|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)										0.191176	106.631174	130.882812	52	220	KEEP	---	---	---	---	capture		Silent	SNP	216052420	216052420	17598	1	G	T	T	T	574	45	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216074110	216074110	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216074110G>T	uc001hku.1	-	c.7438C>A	c.(7438-7440)CAT>AAT	p.H2480N		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2480	Extracellular (Potential).|Fibronectin type-III 11.				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)										0.695853	495.694151	503.118051	151	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216074110	216074110	17598	1	G	T	T	T	611	47	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216495271	216495271	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216495271G>T	uc001hku.1	-	c.1598C>A	c.(1597-1599)CCA>CAA	p.P533Q	USH2A_uc001hkv.2_Missense_Mutation_p.P533Q	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	533	Laminin EGF-like 1.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.207547	102.782426	119.581203	44	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216495271	216495271	17598	1	G	T	T	T	611	47	USH2A	2	2
USH2A	7399	broad.mit.edu	37	1	216498811	216498811	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:216498811T>C	uc001hku.1	-	c.979A>G	c.(979-981)ACA>GCA	p.T327A	USH2A_uc001hkv.2_Missense_Mutation_p.T327A	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	327	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.231707	83.466335	94.284544	38	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216498811	216498811	17598	1	T	C	C	C	767	59	USH2A	4	4
LDLRAD2	401944	broad.mit.edu	37	1	22138963	22138963	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22138963C>T	uc001bfg.1	+	c.19C>T	c.(19-21)CTG>TTG	p.L7L		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain	7						integral to membrane	receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)										0.289474	31.716847	33.221981	11	27	KEEP	---	---	---	---	capture		Silent	SNP	22138963	22138963	9030	1	C	T	T	T	415	32	LDLRAD2	2	2
MIA3	375056	broad.mit.edu	37	1	222803008	222803008	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222803008C>G	uc001hnl.2	+	c.2446C>G	c.(2446-2448)CTG>GTG	p.L816V	MIA3_uc009xea.1_Missense_Mutation_p.L652V	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	816	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)										0.343511	137.335041	140.16891	45	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	222803008	222803008	9955	1	C	G	G	G	415	32	MIA3	3	3
CAPN2	824	broad.mit.edu	37	1	223943328	223943328	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:223943328A>G	uc001hob.3	+	c.1282A>G	c.(1282-1284)ACC>GCC	p.T428A	CAPN2_uc010puy.1_Missense_Mutation_p.T350A|CAPN2_uc001hoc.2_5'Flank	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	428	Domain III.				proteolysis	cytoplasm|plasma membrane					0				GBM - Glioblastoma multiforme(131;0.109)										0.2	18.551238	22.317318	9	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	223943328	223943328	2745	1	A	G	G	G	78	6	CAPN2	4	4
CNIH3	149111	broad.mit.edu	37	1	224922382	224922383	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:224922382_224922383CC>AA	uc001hos.1	+	c.429_430CC>AA	c.(427-432)CTCCTC>CTAATC	p.L144I		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	144	Helical; (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|dendritic shaft|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)										0.265714	234.536276	251.886004	93	257	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	224922382	224922383	3742	1	CC	AA	AA	AA	379	30	CNIH3	2	2
OBSCN	84033	broad.mit.edu	37	1	228503557	228503557	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228503557C>G	uc009xez.1	+	c.13022C>G	c.(13021-13023)ACG>AGG	p.T4341R	OBSCN_uc001hsn.2_Missense_Mutation_p.T4341R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4341	Ig-like 45.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.848485	97.214902	101.052471	28	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228503557	228503557	11217	1	C	G	G	G	247	19	OBSCN	3	3
OBSCN	84033	broad.mit.edu	37	1	228565292	228565292	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228565292C>A	uc009xez.1	+	c.23382C>A	c.(23380-23382)TCC>TCA	p.S7794S	OBSCN_uc001hsr.1_Silent_p.S2423S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7794	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.272727	31.90848	33.939663	12	32	KEEP	---	---	---	---	capture		Silent	SNP	228565292	228565292	11217	1	C	A	A	A	288	23	OBSCN	1	1
ACTA1	58	broad.mit.edu	37	1	229567625	229567625	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229567625T>C	uc001htm.2	-	c.833A>G	c.(832-834)GAG>GGG	p.E278G		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	278					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)									0.166667	42.58299	56.663792	22	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	229567625	229567625	192	1	T	C	C	C	702	54	ACTA1	4	4
NUP133	55746	broad.mit.edu	37	1	229631713	229631713	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229631713C>A	uc001htn.2	-	c.901G>T	c.(901-903)GAT>TAT	p.D301Y		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	301					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|ovary(1)	5	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)								578				0.666667	176.873622	178.865941	54	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	229631713	229631713	11159	1	C	A	A	A	377	29	NUP133	2	2
ABCB10	23456	broad.mit.edu	37	1	229676403	229676403	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:229676403T>C	uc001htp.3	-	c.1153A>G	c.(1153-1155)ATG>GTG	p.M385V		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	385	Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).|ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)												0.362963	152.434106	154.666062	49	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	229676403	229676403	42	1	T	C	C	C	676	52	ABCB10	4	4
C1QC	714	broad.mit.edu	37	1	22970634	22970634	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22970634G>T	uc001bgc.3	+	c.118G>T	c.(118-120)GGC>TGC	p.G40C	C1QC_uc001bga.3_Missense_Mutation_p.G40C|C1QC_uc001bgb.2_Missense_Mutation_p.G40C	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	40	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	Ovarian(26;671 750 8290 29071 43278)								0.727273	27.91741	28.449648	8	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22970634	22970634	2024	1	G	T	T	T	507	39	C1QC	1	1
C1QB	713	broad.mit.edu	37	1	22986051	22986051	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22986051C>A	uc001bgd.2	+	c.102C>A	c.(100-102)CCC>CCA	p.P34P		NM_000491	NP_000482	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	34					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)									0.325	162.123632	167.550282	65	135	KEEP	---	---	---	---	capture		Silent	SNP	22986051	22986051	2022	1	C	A	A	A	275	22	C1QB	2	2
GALNT2	2590	broad.mit.edu	37	1	230339028	230339028	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:230339028G>T	uc010pwa.1	+	c.366G>T	c.(364-366)CGG>CGT	p.R122R	GALNT2_uc010pvy.1_Silent_p.R84R|GALNT2_uc010pvz.1_Non-coding_Transcript	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	122	Lumenal (Potential).				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)												0.31	245.90894	255.534183	93	207	KEEP	---	---	---	---	capture		Silent	SNP	230339028	230339028	6477	1	G	T	T	T	535	42	GALNT2	2	2
PGBD5	79605	broad.mit.edu	37	1	230468654	230468654	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:230468654C>A	uc001htv.2	-	c.1299G>T	c.(1297-1299)TTG>TTT	p.L433F	PGBD5_uc010pwb.1_Missense_Mutation_p.L334F	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	334						integral to membrane				ovary(2)|central_nervous_system(1)	3	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)										0.256545	123.879497	134.148626	49	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	230468654	230468654	12207	1	C	A	A	A	376	29	PGBD5	2	2
CAPN9	10753	broad.mit.edu	37	1	230916350	230916350	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:230916350C>T	uc001htz.1	+	c.1377C>T	c.(1375-1377)TTC>TTT	p.F459F	CAPN9_uc009xfg.1_Silent_p.F396F|CAPN9_uc001hua.1_Silent_p.F433F	NM_006615	NP_006606	O14815	CAN9_HUMAN	calpain 9 isoform 1	459	Domain III.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)	1	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)												0.265432	211.193424	227.318784	86	238	KEEP	---	---	---	---	capture		Silent	SNP	230916350	230916350	2751	1	C	T	T	T	376	29	CAPN9	2	2
TTC13	79573	broad.mit.edu	37	1	231097014	231097014	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:231097014C>A	uc001huf.3	-	c.307G>T	c.(307-309)GAA>TAA	p.E103*	TTC13_uc009xfi.2_Nonsense_Mutation_p.E103*|TTC13_uc009xfj.2_Non-coding_Transcript|TTC13_uc001hug.3_Nonsense_Mutation_p.E103*|TTC13_uc009xfk.1_Intron	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	103							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)										0.194175	45.89357	54.84079	20	83	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	231097014	231097014	17234	1	C	A	A	A	403	31	TTC13	5	1
ARV1	64801	broad.mit.edu	37	1	231115007	231115007	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:231115007G>T	uc009xfl.1	+	c.156G>T	c.(154-156)GTG>GTT	p.V52V	TTC13_uc001huf.3_5'Flank|TTC13_uc009xfi.2_5'Flank|TTC13_uc009xfj.2_5'Flank|TTC13_uc001hug.3_5'Flank|TTC13_uc009xfk.1_5'Flank|ARV1_uc001huh.2_Silent_p.V52V	NM_022786	NP_073623	Q9H2C2	ARV1_HUMAN	ARV1 homolog	52					sphingolipid metabolic process	integral to membrane				breast(2)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)										0.220339	122.889379	139.873197	52	184	KEEP	---	---	---	---	capture		Silent	SNP	231115007	231115007	1020	1	G	T	T	T	587	46	ARV1	2	2
TRIM67	440730	broad.mit.edu	37	1	231337128	231337128	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:231337128G>T	uc009xfn.1	+	c.1399G>T	c.(1399-1401)GTC>TTC	p.V467F		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	467	COS.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)								1001				0.147059	8.656464	12.721968	5	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231337128	231337128	17089	1	G	T	T	T	520	40	TRIM67	1	1
DISC1	27185	broad.mit.edu	37	1	231829629	231829629	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:231829629G>T	uc001huz.2	+	c.125G>T	c.(124-126)AGG>ATG	p.R42M	TSNAX-DISC1_uc010pwe.1_De_novo_Start_InFrame|TSNAX-DISC1_uc010pwf.1_De_novo_Start_InFrame|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.R31M|TSNAX-DISC1_uc010pwh.1_De_novo_Start_InFrame|TSNAX-DISC1_uc010pwi.1_De_novo_Start_InFrame|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.R31M|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.R31M|TSNAX-DISC1_uc010pwl.1_Non-coding_Transcript|DISC1_uc010pwo.1_Missense_Mutation_p.R42M|DISC1_uc010pwp.1_Missense_Mutation_p.R42M|DISC1_uc010pwq.1_Missense_Mutation_p.R42M|DISC1_uc010pwr.1_Missense_Mutation_p.R42M|DISC1_uc010pws.1_Missense_Mutation_p.R42M|DISC1_uc010pwt.1_Missense_Mutation_p.R42M|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_Non-coding_Transcript|DISC1_uc010pww.1_Missense_Mutation_p.R42M|DISC1_uc010pwx.1_Non-coding_Transcript|DISC1_uc010pwy.1_Non-coding_Transcript|DISC1_uc010pwz.1_Non-coding_Transcript|DISC1_uc010pxa.1_Non-coding_Transcript|DISC1_uc001huy.2_Missense_Mutation_p.R42M|DISC1_uc010pxb.1_Missense_Mutation_p.R42M|DISC1_uc010pxc.1_Missense_Mutation_p.R42M|DISC1_uc010pxd.1_De_novo_Start_OutOfFrame|DISC1_uc010pxe.1_Missense_Mutation_p.R42M|DISC1_uc009xfr.2_De_novo_Start_InFrame|DISC1_uc010pxf.1_Missense_Mutation_p.R42M|DISC1_uc010pxg.1_Missense_Mutation_p.R42M|DISC1_uc010pxh.1_Missense_Mutation_p.R42M|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_De_novo_Start_OutOfFrame|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.1_Missense_Mutation_p.R42M|DISC1_uc010pxn.1_De_novo_Start_OutOfFrame|DISC1_uc001hva.2_Missense_Mutation_p.R42M|DISC1_uc010pwm.1_Missense_Mutation_p.R42M|DISC1_uc001hux.1_Missense_Mutation_p.R42M|DISC1_uc001hvc.3_Missense_Mutation_p.R42M|DISC1_uc010pwn.1_Missense_Mutation_p.R42M	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	42	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding				0		all_cancers(173;0.0208)|Prostate(94;0.0975)												0.75	186.495718	190.809041	57	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231829629	231829629	4717	1	G	T	T	T	455	35	DISC1	2	2
DISC1	27185	broad.mit.edu	37	1	231829710	231829710	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:231829710G>T	uc001huz.2	+	c.206G>T	c.(205-207)GGA>GTA	p.G69V	TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.G24V|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.G24V|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.G58V|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.G24V|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.G24V|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.G58V|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.G58V|TSNAX-DISC1_uc010pwl.1_Non-coding_Transcript|DISC1_uc010pwo.1_Missense_Mutation_p.G69V|DISC1_uc010pwp.1_Missense_Mutation_p.G69V|DISC1_uc010pwq.1_Missense_Mutation_p.G69V|DISC1_uc010pwr.1_Missense_Mutation_p.G69V|DISC1_uc010pws.1_Missense_Mutation_p.G69V|DISC1_uc010pwt.1_Missense_Mutation_p.G69V|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_Non-coding_Transcript|DISC1_uc010pww.1_Missense_Mutation_p.G69V|DISC1_uc010pwx.1_Non-coding_Transcript|DISC1_uc010pwy.1_Non-coding_Transcript|DISC1_uc010pwz.1_Non-coding_Transcript|DISC1_uc010pxa.1_Non-coding_Transcript|DISC1_uc001huy.2_Missense_Mutation_p.G69V|DISC1_uc010pxb.1_Missense_Mutation_p.G69V|DISC1_uc010pxc.1_Missense_Mutation_p.G69V|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.G69V|DISC1_uc009xfr.2_Missense_Mutation_p.G24V|DISC1_uc010pxf.1_Missense_Mutation_p.G69V|DISC1_uc010pxg.1_Missense_Mutation_p.G69V|DISC1_uc010pxh.1_Missense_Mutation_p.G69V|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.1_Missense_Mutation_p.G69V|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.G69V|DISC1_uc010pwm.1_Missense_Mutation_p.G69V|DISC1_uc001hux.1_Missense_Mutation_p.G69V|DISC1_uc001hvc.3_Missense_Mutation_p.G69V|DISC1_uc010pwn.1_Missense_Mutation_p.G69V	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	69	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding				0		all_cancers(173;0.0208)|Prostate(94;0.0975)												0.172414	18.513439	24.394849	10	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231829710	231829710	4717	1	G	T	T	T	533	41	DISC1	2	2
PCNXL2	80003	broad.mit.edu	37	1	233134101	233134101	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:233134101C>T	uc001hvl.2	-	c.5687G>A	c.(5686-5688)GGC>GAC	p.G1896D	PCNXL2_uc001hvk.1_Missense_Mutation_p.G548D|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1896						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)												0.259259	64.78864	70.439798	28	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233134101	233134101	12012	1	C	T	T	T	338	26	PCNXL2	2	2
KIAA1804	84451	broad.mit.edu	37	1	233490644	233490644	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:233490644G>T	uc001hvt.3	+	c.1198G>T	c.(1198-1200)GCT>TCT	p.A400S	KIAA1804_uc001hvs.1_Missense_Mutation_p.A400S	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	400	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)	7		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)								196				0.180556	160.616804	202.05195	78	354	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233490644	233490644	8570	1	G	T	T	T	598	46	KIAA1804	2	2
KIAA1804	84451	broad.mit.edu	37	1	233511714	233511714	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:233511714A>G	uc001hvt.3	+	c.1728A>G	c.(1726-1728)CAA>CAG	p.Q576Q	KIAA1804_uc001hvu.3_Silent_p.Q22Q	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	576					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)	7		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)								196				0.6	302.829243	304.053664	84	56	KEEP	---	---	---	---	capture		Silent	SNP	233511714	233511714	8570	1	A	G	G	G	37	3	KIAA1804	4	4
LYST	1130	broad.mit.edu	37	1	235918832	235918832	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235918832A>T	uc001hxj.2	-	c.7175T>A	c.(7174-7176)TTG>TAG	p.L2392*	LYST_uc009xga.1_5'Flank	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2392					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)											0.235612	328.246151	363.78517	131	425	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	235918832	235918832	9505	1	A	T	T	T	65	5	LYST	5	3
ERO1LB	56605	broad.mit.edu	37	1	236406744	236406744	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236406744C>A	uc001hxt.2	-	c.483G>T	c.(481-483)CGG>CGT	p.R161R	ERO1LB_uc010pxt.1_Intron	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	endoplasmic reticulum oxidoreductin 1-Lbeta	161					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)											0.257143	24.258294	26.129599	9	26	KEEP	---	---	---	---	capture		Silent	SNP	236406744	236406744	5433	1	C	A	A	A	275	22	ERO1LB	2	2
HEATR1	55127	broad.mit.edu	37	1	236719125	236719125	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236719125A>C	uc001hyd.1	-	c.5629T>G	c.(5629-5631)TTC>GTC	p.F1877V	HEATR1_uc009xgh.1_Missense_Mutation_p.F1039V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	1877					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)	2	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)											0.233141	246.332046	280.25948	121	398	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236719125	236719125	7310	1	A	C	C	C	39	3	HEATR1	4	4
ACTN2	88	broad.mit.edu	37	1	236894539	236894539	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:236894539C>A	uc001hyf.2	+	c.622C>A	c.(622-624)CCC>ACC	p.P208T	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.P208T|ACTN2_uc010pxu.1_5'UTR	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	208	CH 2.|Actin-binding.				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)											0.0625	-14.206886	30.452323	14	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236894539	236894539	206	1	C	A	A	A	286	22	ACTN2	2	2
RYR2	6262	broad.mit.edu	37	1	237756932	237756932	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237756932G>T	uc001hyl.1	+	c.4432G>T	c.(4432-4434)GAA>TAA	p.E1478*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1478	Cytoplasmic (By similarity).|B30.2/SPRY 3.|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)											0.236994	94.881666	105.824241	41	132	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	237756932	237756932	14249	1	G	T	T	T	585	45	RYR2	5	2
RYR2	6262	broad.mit.edu	37	1	237777632	237777632	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237777632G>T	uc001hyl.1	+	c.5204G>T	c.(5203-5205)AGC>ATC	p.S1735I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1735	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)											0.152	64.70946	93.678828	38	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237777632	237777632	14249	1	G	T	T	T	442	34	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237791135	237791135	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237791135C>T	uc001hyl.1	+	c.6195C>T	c.(6193-6195)ACC>ACT	p.T2065T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2065	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)											0.284314	80.938005	85.19482	29	73	KEEP	---	---	---	---	capture		Silent	SNP	237791135	237791135	14249	1	C	T	T	T	262	21	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237831190	237831190	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237831190C>T	uc001hyl.1	+	c.8522C>T	c.(8521-8523)GCA>GTA	p.A2841V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2841	Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.75	44.824592	45.957354	15	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237831190	237831190	14249	1	C	T	T	T	325	25	RYR2	2	2
RYR2	6262	broad.mit.edu	37	1	237893643	237893643	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237893643T>A	uc001hyl.1	+	c.10922T>A	c.(10921-10923)ATA>AAA	p.I3641K	RYR2_uc010pya.1_Missense_Mutation_p.I37K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3641					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)											0.21875	53.026533	60.020737	21	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237893643	237893643	14249	1	T	A	A	A	637	49	RYR2	3	3
RYR2	6262	broad.mit.edu	37	1	237947538	237947538	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237947538G>T	uc001hyl.1	+	c.12526G>T	c.(12526-12528)GTG>TTG	p.V4176L	RYR2_uc010pya.1_Missense_Mutation_p.V591L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4176					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)											0.196602	190.921683	226.304129	81	331	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237947538	237947538	14249	1	G	T	T	T	520	40	RYR2	1	1
ZP4	57829	broad.mit.edu	37	1	238048069	238048069	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238048069G>T	uc001hym.2	-	c.1390C>A	c.(1390-1392)CGA>AGA	p.R464R	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	464	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.22	26.863775	30.427682	11	39	KEEP	---	---	---	---	capture		Silent	SNP	238048069	238048069	18822	1	G	T	T	T	480	37	ZP4	1	1
ZP4	57829	broad.mit.edu	37	1	238048727	238048727	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238048727G>T	uc001hym.2	-	c.1124C>A	c.(1123-1125)CCC>CAC	p.P375H	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	375	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.197183	60.721601	72.849744	28	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238048727	238048727	18822	1	G	T	T	T	559	43	ZP4	2	2
CHRM3	1131	broad.mit.edu	37	1	240070781	240070781	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240070781G>T	uc001hyp.2	+	c.30G>T	c.(28-30)TCG>TCT	p.S10S		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	10	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)									0.682759	339.078642	343.391785	99	46	KEEP	---	---	---	---	capture		Silent	SNP	240070781	240070781	3512	1	G	T	T	T	483	38	CHRM3	1	1
CHRM3	1131	broad.mit.edu	37	1	240071185	240071185	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240071185T>G	uc001hyp.2	+	c.434T>G	c.(433-435)CTT>CGT	p.L145R		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	145	Helical; Name=3; (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)									0.06	-15.551731	14.847826	9	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240071185	240071185	3512	1	T	G	G	G	728	56	CHRM3	4	4
RPL11	6135	broad.mit.edu	37	1	24021209	24021209	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24021209G>T	uc001bhk.2	+	c.324G>T	c.(322-324)GGG>GGT	p.G108G	RPL11_uc001bhl.2_Silent_p.G107G|RPL11_uc001bhm.2_Silent_p.G97G|RPL11_uc001bhn.1_Silent_p.G97G	NM_000975	NP_000966	P62913	RL11_HUMAN	ribosomal protein L11	108					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)										0.196262	40.807452	50.014155	21	86	KEEP	---	---	---	---	capture		Silent	SNP	24021209	24021209	14036	1	G	T	T	T	522	41	RPL11	2	2
FMN2	56776	broad.mit.edu	37	1	240256720	240256720	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240256720T>A	uc010pye.1	+	c.1311T>A	c.(1309-1311)CCT>CCA	p.P437P	FMN2_uc010pyd.1_Silent_p.P437P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	437					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)							1289				0.237288	70.249134	77.68503	28	90	KEEP	---	---	---	---	capture		Silent	SNP	240256720	240256720	6192	1	T	A	A	A	678	53	FMN2	3	3
FMN2	56776	broad.mit.edu	37	1	240256813	240256813	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:240256813G>T	uc010pye.1	+	c.1404G>T	c.(1402-1404)AAG>AAT	p.K468N	FMN2_uc010pyd.1_Missense_Mutation_p.K468N	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	468					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|large_intestine(1)|central_nervous_system(1)	9	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)							1289				0.166667	5.413625	7.310182	3	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240256813	240256813	6192	1	G	T	T	T	438	34	FMN2	2	2
FH	2271	broad.mit.edu	37	1	241672065	241672065	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241672065G>A	uc001hyx.2	-	c.576C>T	c.(574-576)CCC>CCT	p.P192P		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	192					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)	4	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		Melanoma(148;1573 2486 7381 46575)				119				0.216981	56.764575	64.597293	23	83	KEEP	---	---	---	---	capture		Silent	SNP	241672065	241672065	6112	1	G	A	A	A	600	47	FH	2	2
FH	2271	broad.mit.edu	37	1	241677012	241677012	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241677012G>A	uc001hyx.2	-	c.269C>T	c.(268-270)ACC>ATC	p.T90I		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	90					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)	4	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		Melanoma(148;1573 2486 7381 46575)				119				0.141026	31.740285	51.147747	22	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	241677012	241677012	6112	1	G	A	A	A	572	44	FH	2	2
CHML	1122	broad.mit.edu	37	1	241798502	241798502	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:241798502G>A	uc001hzd.2	-	c.567C>T	c.(565-567)CAC>CAT	p.H189H	OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	choroideremia-like Rab escort protein 2	189					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			ovary(4)	4	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)											0.230483	143.203178	161.118464	62	207	KEEP	---	---	---	---	capture		Silent	SNP	241798502	241798502	3485	1	G	A	A	A	620	48	CHML	2	2
AHCTF1	25909	broad.mit.edu	37	1	247025437	247025437	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247025437T>G	uc001ibv.1	-	c.3586A>C	c.(3586-3588)ATG>CTG	p.M1196L	AHCTF1_uc001ibu.1_Missense_Mutation_p.M1187L|AHCTF1_uc009xgs.1_Missense_Mutation_p.M48L|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1187	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)	5	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			Colon(145;197 1800 4745 15099 26333)								0.384615	65.909581	66.508583	20	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247025437	247025437	411	1	T	G	G	G	663	51	AHCTF1	4	4
AHCTF1	25909	broad.mit.edu	37	1	247048798	247048798	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247048798T>C	uc001ibv.1	-	c.2684A>G	c.(2683-2685)AAT>AGT	p.N895S	AHCTF1_uc001ibu.1_Missense_Mutation_p.N886S|AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	886	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)	5	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			Colon(145;197 1800 4745 15099 26333)								0.522222	156.342983	156.383012	47	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247048798	247048798	411	1	T	C	C	C	676	52	AHCTF1	4	4
VN1R5	317705	broad.mit.edu	37	1	247420195	247420195	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247420195G>T	uc010pyu.1	+	c.822G>T	c.(820-822)CTG>CTT	p.L274L		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	vomeronasal 1 receptor 5	274	Helical; Name=6; (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)								0.200535	167.995395	199.199303	75	299	KEEP	---	---	---	---	capture		Silent	SNP	247420195	247420195	17748	1	G	T	T	T	600	47	VN1R5	2	2
OR2W5	441932	broad.mit.edu	37	1	247654702	247654702	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247654702C>G	uc001icz.1	+	c.273C>G	c.(271-273)ACC>ACG	p.T91T		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)											0.196203	55.128845	68.730794	31	127	KEEP	---	---	---	---	capture		Silent	SNP	247654702	247654702	11440	1	C	G	G	G	262	21	OR2W5	3	3
OR2G2	81470	broad.mit.edu	37	1	247752548	247752548	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247752548G>C	uc010pyy.1	+	c.887G>C	c.(886-888)AGG>ACG	p.R296T		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.248603	198.767184	219.378345	89	269	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247752548	247752548	11404	1	G	C	C	C	455	35	OR2G2	3	3
OR2G3	81469	broad.mit.edu	37	1	247769059	247769059	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247769059C>A	uc010pyz.1	+	c.172C>A	c.(172-174)CCA>ACA	p.P58T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.19678	234.643995	282.526358	110	449	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247769059	247769059	11405	1	C	A	A	A	286	22	OR2G3	2	2
OR2G3	81469	broad.mit.edu	37	1	247769078	247769078	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247769078G>C	uc010pyz.1	+	c.191G>C	c.(190-192)AGC>ACC	p.S64T		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.676106	1316.524348	1332.012935	382	183	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247769078	247769078	11405	1	G	C	C	C	442	34	OR2G3	3	3
OR2G3	81469	broad.mit.edu	37	1	247769303	247769303	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247769303G>T	uc010pyz.1	+	c.416G>T	c.(415-417)CGG>CTG	p.R139L		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	139	Cytoplasmic (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)											0.73617	1177.517083	1201.216216	346	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247769303	247769303	11405	1	G	T	T	T	507	39	OR2G3	1	1
OR13G1	441933	broad.mit.edu	37	1	247835874	247835874	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247835874G>C	uc001idi.1	-	c.470C>G	c.(469-471)ACA>AGA	p.T157R		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)											0.251163	150.658685	162.746091	54	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247835874	247835874	11348	1	G	C	C	C	624	48	OR13G1	3	3
OR1C1	26188	broad.mit.edu	37	1	247920886	247920886	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247920886T>G	uc010pza.1	-	c.823A>C	c.(823-825)ACC>CCC	p.T275P		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	275	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)											0.109929	29.499388	72.066776	31	251	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	247920886	247920886	11358	1	T	G	G	G	780	60	OR1C1	4	4
TRIM58	25893	broad.mit.edu	37	1	248023967	248023967	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248023967G>T	uc001ido.2	+	c.469G>T	c.(469-471)GCC>TCC	p.A157S		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	157						intracellular	zinc ion binding			ovary(1)|lung(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)											0.259259	76.802297	82.437697	28	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248023967	248023967	17077	1	G	T	T	T	494	38	TRIM58	1	1
OR2W3	343171	broad.mit.edu	37	1	248059009	248059009	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248059009G>T	uc001idp.1	+	c.121G>T	c.(121-123)GGC>TGC	p.G41C	OR2W3_uc010pzb.1_Missense_Mutation_p.G41C	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	41	Helical; Name=1; (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)											0.2537	289.922564	316.021075	120	353	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248059009	248059009	11439	1	G	T	T	T	455	35	OR2W3	2	2
OR2L8	391190	broad.mit.edu	37	1	248112717	248112717	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248112717G>C	uc001idt.1	+	c.558G>C	c.(556-558)CTG>CTC	p.L186L	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	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)											0.170819	82.721301	111.550313	48	233	KEEP	---	---	---	---	capture		Silent	SNP	248112717	248112717	11415	1	G	C	C	C	600	47	OR2L8	3	3
OR2L3	391192	broad.mit.edu	37	1	248224541	248224541	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248224541G>C	uc001idx.1	+	c.558G>C	c.(556-558)CTG>CTC	p.L186L	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)											0.0553	-18.865387	26.289166	12	205	KEEP	---	---	---	---	capture		Silent	SNP	248224541	248224541	11414	1	G	C	C	C	600	47	OR2L3	3	3
OR2L13	284521	broad.mit.edu	37	1	248263072	248263072	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248263072C>A	uc001ids.2	+	c.395C>A	c.(394-396)CCT>CAT	p.P132H		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	132	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(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;0.0132)							85				0.246445	262.612346	287.305612	104	318	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248263072	248263072	11412	1	C	A	A	A	312	24	OR2L13	2	2
OR2M2	391194	broad.mit.edu	37	1	248343651	248343651	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248343651C>A	uc010pzf.1	+	c.364C>A	c.(364-366)CGC>AGC	p.R122S		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	122	Cytoplasmic (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)											0.189526	168.454592	204.541354	76	325	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248343651	248343651	11416	1	C	A	A	A	299	23	OR2M2	1	1
OR2M3	127062	broad.mit.edu	37	1	248366647	248366647	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248366647C>G	uc010pzg.1	+	c.278C>G	c.(277-279)TCT>TGT	p.S93C		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	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)											0.254839	437.257493	471.067205	158	462	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248366647	248366647	11417	1	C	G	G	G	416	32	OR2M3	3	3
OR2M3	127062	broad.mit.edu	37	1	248367108	248367108	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248367108G>T	uc010pzg.1	+	c.739G>T	c.(739-741)GTG>TTG	p.V247L		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	247	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	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)											0.672549	1135.269581	1148.737028	343	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248367108	248367108	11417	1	G	T	T	T	572	44	OR2M3	2	2
OR2M4	26245	broad.mit.edu	37	1	248402462	248402462	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248402462C>A	uc010pzh.1	+	c.232C>A	c.(232-234)CTA>ATA	p.L78I		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.687023	848.848891	861.074238	270	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248402462	248402462	11418	1	C	A	A	A	415	32	OR2M4	2	2
OR2T1	26696	broad.mit.edu	37	1	248570337	248570337	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248570337A>C	uc010pzm.1	+	c.1042A>C	c.(1042-1044)ACT>CCT	p.T348P		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	348	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.035294	-27.790251	12.099917	6	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248570337	248570337	11422	1	A	C	C	C	130	10	OR2T1	4	4
OR2G6	391211	broad.mit.edu	37	1	248685107	248685107	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248685107A>G	uc001ien.1	+	c.160A>G	c.(160-162)AGA>GGA	p.R54G		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.218935	166.538631	191.180514	74	264	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248685107	248685107	11406	1	A	G	G	G	88	7	OR2G6	4	4
OR2G6	391211	broad.mit.edu	37	1	248685463	248685463	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248685463C>T	uc001ien.1	+	c.516C>T	c.(514-516)CGC>CGT	p.R172R		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.259615	130.19788	141.056042	54	154	KEEP	---	---	---	---	capture		Silent	SNP	248685463	248685463	11406	1	C	T	T	T	314	25	OR2G6	2	2
AIM1L	55057	broad.mit.edu	37	1	26665911	26665911	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26665911T>A	uc001bmd.3	-	c.79A>T	c.(79-81)ACC>TCC	p.T27S	AIM1L_uc001bmf.3_5'Flank	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	27							sugar binding			pancreas(1)	1		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)										0.531915	85.078595	85.120253	25	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26665911	26665911	434	1	T	A	A	A	767	59	AIM1L	3	3
ZNF683	257101	broad.mit.edu	37	1	26691442	26691442	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:26691442G>C	uc001bmg.1	-	c.595C>G	c.(595-597)CTC>GTC	p.L199V	ZNF683_uc001bmh.1_Missense_Mutation_p.L199V|ZNF683_uc009vsj.1_Missense_Mutation_p.L199V	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)										0.288136	51.556571	53.927651	17	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26691442	26691442	18685	1	G	C	C	C	429	33	ZNF683	3	3
ARID1A	8289	broad.mit.edu	37	1	27088771	27088771	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27088771G>A	uc001bmv.1	+	c.2380G>A	c.(2380-2382)GGG>AGG	p.G794R	ARID1A_uc001bmt.1_Missense_Mutation_p.G794R|ARID1A_uc001bmu.1_Missense_Mutation_p.G794R|ARID1A_uc001bmw.1_Missense_Mutation_p.G411R	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	794					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding|transcription activator activity			ovary(124)|endometrium(3)|kidney(3)|central_nervous_system(2)|pancreas(2)|lung(1)|skin(1)	136		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)						478				0.319672	113.086169	116.608959	39	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27088771	27088771	928	1	G	A	A	A	559	43	ARID1A	2	2
ARID1A	8289	broad.mit.edu	37	1	27105553	27105553	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27105553C>T	uc001bmv.1	+	c.5164C>T	c.(5164-5166)CGA>TGA	p.R1722*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.R1505*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R568*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.R50*|ARID1A_uc009vsn.1_De_novo_Start_OutOfFrame	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1722					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding|transcription activator activity	p.R1722*(1)		ovary(124)|endometrium(3)|kidney(3)|central_nervous_system(2)|pancreas(2)|lung(1)|skin(1)	136		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)					p.R1722*(EFO27-Tumor)	478				0.309927	356.704383	369.966685	128	285	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27105553	27105553	928	1	C	T	T	T	243	19	ARID1A	5	1
WDTC1	23038	broad.mit.edu	37	1	27627882	27627883	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27627882_27627883GG>TT	uc009vst.2	+	c.1398_1399GG>TT	c.(1396-1401)CAGGCC>CATTCC	p.466_467QA>HS	WDTC1_uc001bno.2_Missense_Mutation_p.465_466QA>HS|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.2_Missense_Mutation_p.144_145QA>HS	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	466_467							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)								OREG0013280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.252252	74.149794	80.335462	28	83	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	27627882	27627883	17916	1	GG	TT	TT	TT	451	35	WDTC1	2	2
FGR	2268	broad.mit.edu	37	1	27950358	27950358	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:27950358C>A	uc001boj.2	-	c.70G>T	c.(70-72)GAC>TAC	p.D24Y	FGR_uc001bok.2_Missense_Mutation_p.D24Y|FGR_uc001bol.2_Missense_Mutation_p.D24Y|FGR_uc001bom.2_Missense_Mutation_p.D24Y	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	24					platelet activation|protein phosphorylation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(1)	1		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)						129				0.561404	90.383965	90.568855	32	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27950358	27950358	6111	1	C	A	A	A	390	30	FGR	2	2
OPRD1	4985	broad.mit.edu	37	1	29185797	29185797	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:29185797G>T	uc001brf.1	+	c.559G>T	c.(559-561)GCT>TCT	p.A187S		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	187	Helical; Name=4; (Potential).				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)									0.421053	45.593081	45.799676	16	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29185797	29185797	11290	1	G	T	T	T	546	42	OPRD1	2	2
TINAGL1	64129	broad.mit.edu	37	1	32042825	32042825	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:32042825C>T	uc001bta.2	+	c.76C>T	c.(76-78)CGT>TGT	p.R26C	TINAGL1_uc001bsz.2_Intron|TINAGL1_uc010ogi.1_Missense_Mutation_p.R26C|TINAGL1_uc010ogj.1_Missense_Mutation_p.R26C|TINAGL1_uc010ogk.1_Missense_Mutation_p.R26C	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	26					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)										0.322581	25.964957	26.81805	10	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32042825	32042825	16451	1	C	T	T	T	403	31	TINAGL1	1	1
PHC2	1912	broad.mit.edu	37	1	33794655	33794655	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:33794655A>G	uc009vuh.1	-	c.2241T>C	c.(2239-2241)TAT>TAC	p.Y747Y	PHC2_uc001bxg.1_Silent_p.Y746Y|PHC2_uc001bxh.1_Silent_p.Y718Y|PHC2_uc001bxe.1_Silent_p.Y211Y|PHC2_uc001bxf.1_Silent_p.Y161Y	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	746					multicellular organismal development		DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)												0.302632	58.770913	61.430439	23	53	KEEP	---	---	---	---	capture		Silent	SNP	33794655	33794655	12240	1	A	G	G	G	102	8	PHC2	4	4
EIF2C1	26523	broad.mit.edu	37	1	36358858	36358858	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36358858T>C	uc001bzl.2	+	c.491T>C	c.(490-492)ATG>ACG	p.M164T	EIF2C1_uc001bzk.2_Missense_Mutation_p.M89T|EIF2C1_uc009vuy.2_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	164					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.09009	-1.887089	36.015796	20	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36358858	36358858	5194	1	T	C	C	C	663	51	EIF2C1	4	4
EIF2C1	26523	broad.mit.edu	37	1	36380999	36380999	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36380999G>T	uc001bzl.2	+	c.1884G>T	c.(1882-1884)CGG>CGT	p.R628R	EIF2C1_uc001bzk.2_Silent_p.R553R|EIF2C1_uc009vuy.2_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	628	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.639706	276.550106	278.885304	87	49	KEEP	---	---	---	---	capture		Silent	SNP	36380999	36380999	5194	1	G	T	T	T	548	43	EIF2C1	2	2
ADPRHL2	54936	broad.mit.edu	37	1	36558942	36558942	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36558942A>G	uc001bzt.2	+	c.1047A>G	c.(1045-1047)ACA>ACG	p.T349T	ADPRHL2_uc001bzu.2_Silent_p.T195T	NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	349						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			pancreas(1)	1		Myeloproliferative disorder(586;0.0393)												0.361446	86.430499	87.831393	30	53	KEEP	---	---	---	---	capture		Silent	SNP	36558942	36558942	334	1	A	G	G	G	80	7	ADPRHL2	4	4
THRAP3	9967	broad.mit.edu	37	1	36757120	36757120	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36757120A>T	uc001cae.3	+	c.1891A>T	c.(1891-1893)ATA>TTA	p.I631L	THRAP3_uc001caf.3_Missense_Mutation_p.I631L	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	631					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(5)|lung(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				Pancreas(129;785 1795 20938 23278 32581)				199				0.58011	339.971984	340.982333	105	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36757120	36757120	16402	1	A	T	T	T	208	16	THRAP3	3	3
RLF	6018	broad.mit.edu	37	1	40697321	40697321	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:40697321A>T	uc001cfc.3	+	c.1080A>T	c.(1078-1080)ATA>ATT	p.I360I	RLF_uc001cfd.3_Silent_p.I51I	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	360					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription activator activity|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)											0.558442	134.531337	134.760396	43	34	KEEP	---	---	---	---	capture		Silent	SNP	40697321	40697321	13866	1	A	T	T	T	176	14	RLF	3	3
DEM1	64789	broad.mit.edu	37	1	40980948	40980948	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:40980948G>A	uc001cfp.2	+	c.732G>A	c.(730-732)TTG>TTA	p.L244L	DEM1_uc001cfq.2_Silent_p.L244L|DEM1_uc001cfr.2_Silent_p.L244L|DEM1_uc001cfs.2_Silent_p.L244L	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	244							DNA binding|exonuclease activity				0														0.307692	115.453233	120.110308	44	99	KEEP	---	---	---	---	capture		Silent	SNP	40980948	40980948	4604	1	G	A	A	A	620	48	DEM1	2	2
RIMS3	9783	broad.mit.edu	37	1	41094586	41094586	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:41094586C>T	uc001cfu.1	-	c.610G>A	c.(610-612)GCC>ACC	p.A204T	RIMS3_uc001cfv.1_Missense_Mutation_p.A204T	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	204	C2.				neurotransmitter transport	cell junction|synapse					0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)											0.317204	157.670647	163.190368	59	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41094586	41094586	13846	1	C	T	T	T	338	26	RIMS3	2	2
HIVEP3	59269	broad.mit.edu	37	1	42048561	42048561	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:42048561C>G	uc001cgz.3	-	c.1908G>C	c.(1906-1908)TTG>TTC	p.L636F	HIVEP3_uc001cha.3_Missense_Mutation_p.L636F|HIVEP3_uc001cgy.2_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	636	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription activator activity|zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)												0.294118	148.707826	155.142405	50	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42048561	42048561	7479	1	C	G	G	G	376	29	HIVEP3	3	3
GUCA2B	2981	broad.mit.edu	37	1	42620422	42620422	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:42620422C>T	uc001chc.1	+	c.162C>T	c.(160-162)AGC>AGT	p.S54S		NM_007102	NP_009033	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B precursor	54					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity				0	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)												0.108911	3.029435	18.410477	11	90	KEEP	---	---	---	---	capture		Silent	SNP	42620422	42620422	7172	1	C	T	T	T	337	26	GUCA2B	2	2
KIAA0467	23334	broad.mit.edu	37	1	43896738	43896739	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:43896738_43896739GG>TT	uc001cjk.1	+	c.2196_2197GG>TT	c.(2194-2199)ACGGCC>ACTTCC	p.A733S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1632						peroxisome				breast(6)|ovary(4)|pancreas(1)	11	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)												0.392523	125.737183	126.815595	42	65	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	43896738	43896739	8485	1	GG	TT	TT	TT	496	39	KIAA0467	1	1
SLC6A9	6536	broad.mit.edu	37	1	44476399	44476399	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:44476399T>A	uc001cll.2	-	c.405A>T	c.(403-405)GGA>GGT	p.G135G	SLC6A9_uc009vxe.2_5'UTR|SLC6A9_uc010okm.1_Silent_p.G62G|SLC6A9_uc001clm.2_Silent_p.G81G|SLC6A9_uc009vxd.2_Non-coding_Transcript|SLC6A9_uc010okn.1_Intron|SLC6A9_uc001cln.2_Silent_p.G62G|SLC6A9_uc010oko.1_Intron|SLC6A9_uc010okp.1_Intron	NM_201649	NP_964012	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 2	135						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)									0.319149	39.114255	40.477379	15	32	KEEP	---	---	---	---	capture		Silent	SNP	44476399	44476399	15188	1	T	A	A	A	691	54	SLC6A9	3	3
MUTYH	4595	broad.mit.edu	37	1	45796910	45796910	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:45796910G>A	uc009vxp.2	-	c.1420C>T	c.(1420-1422)CGC>TGC	p.R474C	MUTYH_uc009vxn.2_Missense_Mutation_p.R296C|MUTYH_uc001cnf.2_Missense_Mutation_p.R446C|MUTYH_uc009vxo.2_Missense_Mutation_p.R446C|MUTYH_uc001cng.2_Missense_Mutation_p.R457C|MUTYH_uc001cnj.2_Missense_Mutation_p.R354C|MUTYH_uc001cni.2_Missense_Mutation_p.R446C|MUTYH_uc001cnh.2_Missense_Mutation_p.R447C|MUTYH_uc001cno.2_Missense_Mutation_p.R354C|MUTYH_uc001cnk.2_Missense_Mutation_p.R331C|MUTYH_uc010oll.1_Missense_Mutation_p.R155C|MUTYH_uc001cnm.2_Missense_Mutation_p.R471C|MUTYH_uc001cnl.2_Missense_Mutation_p.R460C|MUTYH_uc001cnn.2_Missense_Mutation_p.R461C	NM_001128425	NP_001121897	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 5	471	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)									162				0.057803	-15.265212	20.194552	10	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45796910	45796910	10387	1	G	A	A	A	481	37	MUTYH	1	1
CYP4B1	1580	broad.mit.edu	37	1	47284381	47284381	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47284381T>C	uc001cqn.3	+	c.1434T>C	c.(1432-1434)TCT>TCC	p.S478S	CYP4B1_uc001cqm.3_Silent_p.S477S|CYP4B1_uc009vym.2_Silent_p.S463S|CYP4B1_uc010omk.1_Silent_p.S314S	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	477					oxidation-reduction process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.362319	238.179886	241.628091	75	132	KEEP	---	---	---	---	capture		Silent	SNP	47284381	47284381	4350	1	T	C	C	C	691	54	CYP4B1	4	4
TAL1	6886	broad.mit.edu	37	1	47685837	47685837	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:47685837G>T	uc001cqx.2	-	c.551C>A	c.(550-552)ACC>AAC	p.T184N	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.T184N	NM_003189	NP_003180	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	184					cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity				0										17				0.62963	111.458881	112.256017	34	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47685837	47685837	16062	1	G	T	T	T	572	44	TAL1	2	2
BEND5	79656	broad.mit.edu	37	1	49193631	49193631	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:49193631C>A	uc001crx.3	-	c.1193G>T	c.(1192-1194)TGT>TTT	p.C398F	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Missense_Mutation_p.C229F	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	398	BEN.										0														0.290598	87.427867	92.080934	34	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49193631	49193631	1424	1	C	A	A	A	221	17	BEND5	2	2
ELAVL4	1996	broad.mit.edu	37	1	50610781	50610781	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:50610781C>A	uc001csa.3	+	c.213C>A	c.(211-213)CCC>CCA	p.P71P	ELAVL4_uc001cry.3_Silent_p.P57P|ELAVL4_uc001crz.3_Silent_p.P54P|ELAVL4_uc001csb.2_Silent_p.P54P|ELAVL4_uc001csc.3_Silent_p.P54P|ELAVL4_uc009vyu.2_Silent_p.P59P|ELAVL4_uc010omz.1_Silent_p.P59P	NM_001144775	NP_001138247	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 3	54	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2														0.332402	335.803642	344.712036	119	239	KEEP	---	---	---	---	capture		Silent	SNP	50610781	50610781	5243	1	C	A	A	A	275	22	ELAVL4	2	2
FAF1	11124	broad.mit.edu	37	1	50941260	50941260	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:50941260C>A	uc009vyx.1	-	c.1745G>T	c.(1744-1746)AGT>ATT	p.S582I	FAF1_uc009vyw.1_Non-coding_Transcript|FAF1_uc001cse.1_Missense_Mutation_p.S582I|FAF1_uc010onc.1_Missense_Mutation_p.S340I	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	582	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)										0.615385	404.907106	407.327038	128	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50941260	50941260	5566	1	C	A	A	A	260	20	FAF1	2	2
FAF1	11124	broad.mit.edu	37	1	51049383	51049383	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:51049383T>A	uc009vyx.1	-	c.972A>T	c.(970-972)CCA>CCT	p.P324P	FAF1_uc009vyw.1_Intron|FAF1_uc001cse.1_Silent_p.P324P|FAF1_uc010onc.1_Silent_p.P82P	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	324					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)										0.395833	61.616951	62.07216	19	29	KEEP	---	---	---	---	capture		Silent	SNP	51049383	51049383	5566	1	T	A	A	A	704	55	FAF1	3	3
ZFYVE9	9372	broad.mit.edu	37	1	52704428	52704428	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52704428C>A	uc001cto.2	+	c.1339C>A	c.(1339-1341)CTA>ATA	p.L447I	ZFYVE9_uc001ctn.2_Missense_Mutation_p.L447I|ZFYVE9_uc001ctp.2_Missense_Mutation_p.L447I	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	447					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor complex assembly	early endosome membrane	protein binding|receptor activity|serine-type peptidase activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(2)	6										498				0.290541	107.483388	113.291798	43	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52704428	52704428	18261	1	C	A	A	A	415	32	ZFYVE9	2	2
ZCCHC11	23318	broad.mit.edu	37	1	52903977	52903977	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:52903977C>T	uc001cty.2	-	c.3853G>A	c.(3853-3855)GAT>AAT	p.D1285N	ZCCHC11_uc001ctx.2_Missense_Mutation_p.D1285N|ZCCHC11_uc001ctz.2_Missense_Mutation_p.D1285N|ZCCHC11_uc009vze.1_Missense_Mutation_p.D1285N|ZCCHC11_uc001cua.1_Missense_Mutation_p.D202N	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1285					miRNA catabolic process|pre-microRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2														0.304054	127.309396	132.385775	45	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52903977	52903977	18168	1	C	T	T	T	416	32	ZCCHC11	2	2
SLC1A7	6512	broad.mit.edu	37	1	53580607	53580607	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:53580607G>T	uc001cuy.2	-	c.254C>A	c.(253-255)TCT>TAT	p.S85Y	SLC1A7_uc001cuz.3_Missense_Mutation_p.S85Y	NM_006671	NP_006662	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter),	85						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			ovary(2)|large_intestine(1)	3				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	NSCLC(128;80 1811 21245 38490 51715)								0.272727	6.919141	7.43211	3	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53580607	53580607	14933	1	G	T	T	T	429	33	SLC1A7	2	2
C1orf175	374977	broad.mit.edu	37	1	55161094	55161094	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55161094C>T	uc010ooe.1	+	c.2895C>T	c.(2893-2895)TAC>TAT	p.Y965Y	C1orf175_uc001cxq.2_Non-coding_Transcript|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_Non-coding_Transcript|C1orf175_uc010ood.1_Silent_p.Y483Y|C1orf175_uc010oof.1_Non-coding_Transcript|C1orf175_uc001cxr.1_Non-coding_Transcript|C1orf175_uc010oog.1_Silent_p.Y965Y|C1orf175_uc010ooh.1_Non-coding_Transcript|C1orf175_uc009vzq.1_Non-coding_Transcript|C1orf175_uc001cxt.1_Non-coding_Transcript|C1orf175_uc009vzr.1_Silent_p.Y167Y|C1orf175_uc001cxu.2_Silent_p.Y111Y	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	965	HEAT 1.					integral to membrane	binding				0														0.344828	54.484015	55.71644	20	38	KEEP	---	---	---	---	capture		Silent	SNP	55161094	55161094	2083	1	C	T	T	T	233	18	C1orf175	2	2
PARS2	25973	broad.mit.edu	37	1	55224317	55224317	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55224317G>C	uc001cxy.2	-	c.518C>G	c.(517-519)TCC>TGC	p.S173C		NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase (mitochondrial)(putative)	173					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			ovary(2)	2					L-Proline(DB00172)									0.327402	274.503586	281.927851	92	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55224317	55224317	11884	1	G	C	C	C	533	41	PARS2	3	3
BSND	7809	broad.mit.edu	37	1	55472900	55472900	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:55472900C>T	uc001cye.2	+	c.503C>T	c.(502-504)TCA>TTA	p.S168L		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	barttin	168	Cytoplasmic (Potential).					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				ovary(1)	1						Ovarian(191;1657 2078 22894 42033 48899)								0.30303	131.100673	136.8074	50	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55472900	55472900	1562	1	C	T	T	T	377	29	BSND	2	2
C1orf168	199920	broad.mit.edu	37	1	57185863	57185863	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57185863C>A	uc001cym.3	-	c.2114G>T	c.(2113-2115)CGT>CTT	p.R705L	C1orf168_uc001cyl.2_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	705										ovary(2)	2														0.133333	16.698637	26.483853	10	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57185863	57185863	2079	1	C	A	A	A	247	19	C1orf168	1	1
C8A	731	broad.mit.edu	37	1	57347195	57347195	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57347195A>T	uc001cyo.2	+	c.542A>T	c.(541-543)TAC>TTC	p.Y181F		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	181	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)	2														0.30855	224.336436	233.118183	83	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57347195	57347195	2525	1	A	T	T	T	182	14	C8A	3	3
NPHP4	261734	broad.mit.edu	37	1	5934991	5934991	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:5934991T>G	uc001alq.1	-	c.2987A>C	c.(2986-2988)AAG>ACG	p.K996T		NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	996					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cilium|membrane|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)										0.338129	125.884045	129.103836	47	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5934991	5934991	10985	1	T	G	G	G	728	56	NPHP4	4	4
CHD5	26038	broad.mit.edu	37	1	6212594	6212594	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6212594G>T	uc001amb.1	-	c.748C>A	c.(748-750)CCT>ACT	p.P250T		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	250	Lys-rich.				chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|ovary(1)|lung(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)						2304				0.378378	81.054447	81.987214	28	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6212594	6212594	3462	1	G	T	T	T	546	42	CHD5	2	2
INADL	10207	broad.mit.edu	37	1	62321803	62321803	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62321803C>T	uc001dab.2	+	c.2214C>T	c.(2212-2214)GTC>GTT	p.V738V	INADL_uc009waf.1_Silent_p.V738V|INADL_uc001daa.2_Silent_p.V738V|INADL_uc001dad.3_Silent_p.V435V|INADL_uc001dac.2_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	738	PDZ 5.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)	3														0.371542	279.176652	282.847181	94	159	KEEP	---	---	---	---	capture		Silent	SNP	62321803	62321803	8032	1	C	T	T	T	405	32	INADL	2	2
KANK4	163782	broad.mit.edu	37	1	62728897	62728897	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62728897G>T	uc001dah.3	-	c.2406C>A	c.(2404-2406)CTC>CTA	p.L802L	KANK4_uc001dai.3_Silent_p.L174L|KANK4_uc001daf.3_5'UTR|KANK4_uc001dag.3_Silent_p.L158L	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	802										ovary(3)|lung(1)	4														0.384615	26.748649	27.050202	10	16	KEEP	---	---	---	---	capture		Silent	SNP	62728897	62728897	8283	1	G	T	T	T	522	41	KANK4	2	2
KANK4	163782	broad.mit.edu	37	1	62739586	62739586	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:62739586T>A	uc001dah.3	-	c.1190A>T	c.(1189-1191)CAG>CTG	p.Q397L	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	397	Potential.									ovary(3)|lung(1)	4														0.304527	210.376786	218.65148	74	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62739586	62739586	8283	1	T	A	A	A	715	55	KANK4	3	3
DOCK7	85440	broad.mit.edu	37	1	63113986	63113986	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:63113986C>G	uc001daq.2	-	c.523G>C	c.(523-525)GAC>CAC	p.D175H	DOCK7_uc001dan.2_Missense_Mutation_p.D67H|DOCK7_uc001dao.2_Missense_Mutation_p.D67H|DOCK7_uc001dap.2_Missense_Mutation_p.D175H|DOCK7_uc009wah.1_Missense_Mutation_p.D175H	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	175					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2														0.25	47.943281	51.805464	17	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63113986	63113986	4876	1	C	G	G	G	377	29	DOCK7	3	3
ROR1	4919	broad.mit.edu	37	1	64624702	64624702	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:64624702C>T	uc001dbj.2	+	c.1213C>T	c.(1213-1215)CTG>TTG	p.L405L		NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	405	Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|stomach(1)|breast(1)|skin(1)|kidney(1)	13										216				0.6	641.93175	644.653294	186	124	KEEP	---	---	---	---	capture		Silent	SNP	64624702	64624702	14005	1	C	T	T	T	311	24	ROR1	2	2
RAVER2	55225	broad.mit.edu	37	1	65278516	65278516	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:65278516C>T	uc001dbs.1	+	c.1737C>T	c.(1735-1737)CCC>CCT	p.P579P	RAVER2_uc001dbt.1_Silent_p.P471P|RAVER2_uc010opb.1_Silent_p.P304P	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	592						cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1														0.301587	50.910516	53.119847	19	44	KEEP	---	---	---	---	capture		Silent	SNP	65278516	65278516	13556	1	C	T	T	T	262	21	RAVER2	2	2
KLHL21	9903	broad.mit.edu	37	1	6659460	6659460	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:6659460G>T	uc001aoa.2	-	c.1074C>A	c.(1072-1074)AGC>AGA	p.S358R	KLHL21_uc001anz.1_Missense_Mutation_p.S358R|KLHL21_uc009vme.2_5'UTR	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	kelch-like 21	358	Kelch 2.				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)										0.285714	10.89454	11.471221	4	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6659460	6659460	8688	1	G	T	T	T	490	38	KLHL21	1	1
SGIP1	84251	broad.mit.edu	37	1	67142774	67142774	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67142774C>A	uc001dcr.2	+	c.734C>A	c.(733-735)ACT>AAT	p.T245N	SGIP1_uc010opd.1_Missense_Mutation_p.T12N|SGIP1_uc001dcs.2_Missense_Mutation_p.T12N|SGIP1_uc001dct.2_Missense_Mutation_p.T12N|SGIP1_uc009wat.2_Missense_Mutation_p.T12N	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	245	Pro-rich.				intracellular protein transport|positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess|vesicle-mediated transport	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3														0.303922	164.653199	171.664621	62	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67142774	67142774	14697	1	C	A	A	A	260	20	SGIP1	2	2
TCTEX1D1	200132	broad.mit.edu	37	1	67241989	67241989	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67241989C>G	uc001dcv.2	+	c.239C>G	c.(238-240)ACC>AGC	p.T80S	TCTEX1D1_uc009wau.2_Non-coding_Transcript|TCTEX1D1_uc009wav.2_Intron	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	80											0														0.234783	76.385442	83.77093	27	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67241989	67241989	16245	1	C	G	G	G	234	18	TCTEX1D1	3	3
LRRC7	57554	broad.mit.edu	37	1	70257779	70257779	+	Silent	SNP	T	C	C	rs34658389		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70257779T>C	uc001dep.2	+	c.243T>C	c.(241-243)CTT>CTC	p.L81L	LRRC7_uc001deo.1_Silent_p.L119L|LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	81	LRR 3.					centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.117347	33.683801	61.900042	23	173	KEEP	---	---	---	---	capture		Silent	SNP	70257779	70257779	9396	1	T	C	C	C	821	64	LRRC7	4	4
LRRC7	57554	broad.mit.edu	37	1	70446073	70446073	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70446073G>C	uc001dep.2	+	c.609G>C	c.(607-609)CTG>CTC	p.L203L	LRRC7_uc009wbg.2_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	203	LRR 8.					centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.29321	268.681756	281.094369	95	229	KEEP	---	---	---	---	capture		Silent	SNP	70446073	70446073	9396	1	G	C	C	C	600	47	LRRC7	3	3
CTH	1491	broad.mit.edu	37	1	70904437	70904437	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70904437G>T	uc001dfd.2	+	c.1119G>T	c.(1117-1119)CTG>CTT	p.L373L	CTH_uc001dfe.2_Silent_p.L329L|CTH_uc010oqq.1_Silent_p.L341L	NM_001902	NP_001893	P32929	CGL_HUMAN	cystathionase isoform 1	373					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			lung(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)									0.264706	90.131774	96.942766	36	100	KEEP	---	---	---	---	capture		Silent	SNP	70904437	70904437	4168	1	G	T	T	T	574	45	CTH	2	2
NEGR1	257194	broad.mit.edu	37	1	72241943	72241943	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:72241943G>T	uc001dfw.2	-	c.447C>A	c.(445-447)ACC>ACA	p.T149T	NEGR1_uc001dfv.2_Silent_p.T21T|NEGR1_uc010oqs.1_Silent_p.T149T	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1 precursor	149	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)										0.186047	18.575384	22.546367	8	35	KEEP	---	---	---	---	capture		Silent	SNP	72241943	72241943	10716	1	G	T	T	T	496	39	NEGR1	1	1
LRRIQ3	127255	broad.mit.edu	37	1	74507269	74507269	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:74507269G>C	uc001dfy.3	-	c.1346C>G	c.(1345-1347)GCT>GGT	p.A449G	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	449										ovary(2)	2										2				0.289474	382.43163	400.608321	132	324	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74507269	74507269	9406	1	G	C	C	C	442	34	LRRIQ3	3	3
LRRIQ3	127255	broad.mit.edu	37	1	74540441	74540441	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:74540441T>C	uc001dfy.3	-	c.901A>G	c.(901-903)AGT>GGT	p.S301G	LRRIQ3_uc001dfz.3_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	301										ovary(2)	2										2				0.296296	45.779595	47.783165	16	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74540441	74540441	9406	1	T	C	C	C	715	55	LRRIQ3	4	4
TNNI3K	51086	broad.mit.edu	37	1	74835217	74835217	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:74835217A>T	uc001dge.1	+	c.1918A>T	c.(1918-1920)ACT>TCT	p.T640S	TNNI3K_uc001dgc.1_Missense_Mutation_p.T640S|TNNI3K_uc001dgd.2_Missense_Mutation_p.T640S|TNNI3K_uc001dgf.1_Missense_Mutation_p.T539S	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform a	539	Protein kinase.				protein phosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10										765				0.460674	392.017031	392.373775	123	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74835217	74835217	16870	1	A	T	T	T	78	6	TNNI3K	3	3
TNNI3K	51086	broad.mit.edu	37	1	74835229	74835229	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:74835229T>C	uc001dge.1	+	c.1930T>C	c.(1930-1932)TCA>CCA	p.S644P	TNNI3K_uc001dgc.1_Missense_Mutation_p.S644P|TNNI3K_uc001dgd.2_Missense_Mutation_p.S644P|TNNI3K_uc001dgf.1_Missense_Mutation_p.S543P	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform a	543	Protein kinase.				protein phosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10										765				0.468864	423.580729	423.810601	128	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74835229	74835229	16870	1	T	C	C	C	650	50	TNNI3K	4	4
SLC44A5	204962	broad.mit.edu	37	1	75684994	75684994	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:75684994A>C	uc010oqz.1	-	c.1331T>G	c.(1330-1332)GTC>GGC	p.V444G	SLC44A5_uc001dgt.2_Missense_Mutation_p.V405G|SLC44A5_uc001dgs.2_Missense_Mutation_p.V363G|SLC44A5_uc001dgr.2_Missense_Mutation_p.V363G|SLC44A5_uc001dgu.2_Missense_Mutation_p.V405G|SLC44A5_uc010ora.1_Missense_Mutation_p.V399G|SLC44A5_uc010orb.1_Missense_Mutation_p.V275G	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform B	405	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)	2														0.261538	51.54911	54.890943	17	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75684994	75684994	15136	1	A	C	C	C	130	10	SLC44A5	4	4
ST6GALNAC5	81849	broad.mit.edu	37	1	77510163	77510163	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:77510163G>T	uc001dhi.2	+	c.536G>T	c.(535-537)CGG>CTG	p.R179L	ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	179	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)	1														0.627551	405.072561	407.881531	123	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77510163	77510163	15745	1	G	T	T	T	507	39	ST6GALNAC5	1	1
TNFRSF9	3604	broad.mit.edu	37	1	7998852	7998852	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:7998852C>T	uc001aot.2	-	c.137G>A	c.(136-138)AGT>AAT	p.S46N		NM_001561	NP_001552	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily,	46	Extracellular (Potential).				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)						106				0.310526	166.448426	172.5279	59	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7998852	7998852	16841	1	C	T	T	T	260	20	TNFRSF9	2	2
RERE	473	broad.mit.edu	37	1	8425950	8425950	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:8425950C>A	uc001ape.2	-	c.1369G>T	c.(1369-1371)GCC>TCC	p.A457S	RERE_uc001apf.2_Missense_Mutation_p.A457S|RERE_uc010nzx.1_Missense_Mutation_p.A189S|RERE_uc001apd.2_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	457					multicellular organismal development|NLS-bearing substrate import into nucleus|regulation of transcription, DNA-dependent	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)										0.537313	101.780177	101.859973	36	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8425950	8425950	13700	1	C	A	A	A	338	26	RERE	2	2
RPF1	80135	broad.mit.edu	37	1	84955400	84955400	+	Silent	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:84955400A>C	uc001djv.3	+	c.451A>C	c.(451-453)AGA>CGA	p.R151R		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	RNA processing factor 1	151	Brix.				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding				0														0.625	153.259226	154.354685	50	30	KEEP	---	---	---	---	capture		Silent	SNP	84955400	84955400	14025	1	A	C	C	C	192	15	RPF1	4	4
MCOLN2	255231	broad.mit.edu	37	1	85397235	85397235	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:85397235G>C	uc001dkm.2	-	c.1352C>G	c.(1351-1353)ACA>AGA	p.T451R	MCOLN2_uc001dkn.2_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	451						integral to membrane	ion channel activity			ovary(3)	3				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)										0.299435	168.610219	174.969564	53	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85397235	85397235	9785	1	G	C	C	C	624	48	MCOLN2	3	3
C1orf52	148423	broad.mit.edu	37	1	85725170	85725170	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:85725170C>A	uc001dkv.2	-	c.147G>T	c.(145-147)AGG>AGT	p.R49S	C1orf52_uc001dkw.2_Non-coding_Transcript|C1orf52_uc001dkx.3_Non-coding_Transcript|C1orf52_uc009wcn.2_Missense_Mutation_p.R49S	NM_198077	NP_932343	Q8N6N3	CA052_HUMAN	hypothetical protein LOC148423	49										ovary(1)	1				all cancers(265;0.0105)|Epithelial(280;0.0293)								OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.444444	6.600301	6.621645	4	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85725170	85725170	2118	1	C	A	A	A	389	30	C1orf52	2	2
COL24A1	255631	broad.mit.edu	37	1	86529438	86529438	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86529438A>T	uc001dlj.2	-	c.1712T>A	c.(1711-1713)CTC>CAC	p.L571H	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_Missense_Mutation_p.L571H	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	571	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)	4				all cancers(265;0.0627)|Epithelial(280;0.0689)										0.084416	2.451762	29.454787	13	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86529438	86529438	3821	1	A	T	T	T	143	11	COL24A1	3	3
CLCA1	1179	broad.mit.edu	37	1	86960013	86960013	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86960013G>T	uc001dlt.2	+	c.1824G>T	c.(1822-1824)CTG>CTT	p.L608L	CLCA1_uc001dls.1_Silent_p.L547L	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	608					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)										0.642336	277.755062	280.180247	88	49	KEEP	---	---	---	---	capture		Silent	SNP	86960013	86960013	3593	1	G	T	T	T	600	47	CLCA1	2	2
CLCA4	22802	broad.mit.edu	37	1	87040320	87040320	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:87040320C>A	uc009wcs.2	+	c.1565C>A	c.(1564-1566)ACA>AAA	p.T522K	CLCA4_uc009wct.2_Missense_Mutation_p.T285K|CLCA4_uc009wcu.2_Missense_Mutation_p.T342K	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	522						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)										0.300699	121.677003	126.746562	43	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87040320	87040320	3595	1	C	A	A	A	221	17	CLCA4	2	2
SH3GLB1	51100	broad.mit.edu	37	1	87181526	87181526	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:87181526A>G	uc001dly.2	+	c.192A>G	c.(190-192)GAA>GAG	p.E64E	SH3GLB1_uc001dlw.2_Silent_p.E64E|SH3GLB1_uc001dlx.2_Silent_p.E64E|SH3GLB1_uc001dlz.2_Intron	NM_016009	NP_057093	Q9Y371	SHLB1_HUMAN	SH3-containing protein SH3GLB1	64	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding				0		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)										0.234043	59.206237	65.287222	22	72	KEEP	---	---	---	---	capture		Silent	SNP	87181526	87181526	14745	1	A	G	G	G	37	3	SH3GLB1	4	4
SEP15	9403	broad.mit.edu	37	1	87369133	87369133	+	Splice_Site_SNP	SNP	T	A	A	rs111719584		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:87369133T>A	uc010osi.1	-	c.85_splice	c.e2-1	p.V29_splice	SEP15_uc010osj.1_Splice_Site_SNP_p.V29_splice	NM_004261	NP_004252			15 kDa selenoprotein isoform 1 precursor						'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding				0		Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)										0.169811	18.941602	24.409242	9	44	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	87369133	87369133	14539	1	T	A	A	A	715	55	SEP15	5	3
PKN2	5586	broad.mit.edu	37	1	89250387	89250387	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89250387G>A	uc001dmn.2	+	c.1051G>A	c.(1051-1053)GCA>ACA	p.A351T	PKN2_uc001dmm.1_Missense_Mutation_p.A351T|PKN2_uc010osp.1_Missense_Mutation_p.A351T|PKN2_uc010osq.1_Missense_Mutation_p.A194T|PKN2_uc009wcv.2_Missense_Mutation_p.A351T|PKN2_uc010osr.1_Missense_Mutation_p.A16T	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	351	C2.				protein phosphorylation|signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)						455				0.235955	52.028098	57.702835	21	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89250387	89250387	12405	1	G	A	A	A	442	34	PKN2	2	2
ENO1	2023	broad.mit.edu	37	1	8926469	8926469	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:8926469C>A	uc001apj.1	-	c.536G>T	c.(535-537)AGG>ATG	p.R179M	ENO1_uc001api.1_Missense_Mutation_p.R83M|ENO1_uc001apk.1_Missense_Mutation_p.R124M|ENO1_uc001apl.1_Missense_Mutation_p.R179M|ENO1_uc009vmi.1_Missense_Mutation_p.R136M|ENO1_uc009vmj.1_Missense_Mutation_p.R179M|ENO1_uc009vmk.1_Missense_Mutation_p.R53M|ENO1_uc009vml.1_Missense_Mutation_p.R179M	NM_001428	NP_001419	P06733	ENOA_HUMAN	enolase 1	179	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	nucleus|phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription repressor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		Esophageal Squamous(21;302 608 19946 22210 33560)								0.357143	97.288742	99.054025	35	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8926469	8926469	5314	1	C	A	A	A	312	24	ENO1	2	2
GBP7	388646	broad.mit.edu	37	1	89637451	89637451	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89637451G>T	uc001dna.2	-	c.168C>A	c.(166-168)AAC>AAA	p.N56K		NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	guanylate binding protein 4-like	56						integral to membrane	GTP binding|GTPase activity			ovary(1)	1		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)										0.246305	124.737534	136.644553	50	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89637451	89637451	6545	1	G	T	T	T	620	48	GBP7	2	2
GBP5	115362	broad.mit.edu	37	1	89729611	89729611	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:89729611C>T	uc001dnc.2	-	c.1170G>A	c.(1168-1170)CAG>CAA	p.Q390Q	GBP5_uc001dnd.2_Silent_p.Q390Q|GBP5_uc001dne.1_Silent_p.Q390Q	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	guanylate-binding protein 5	390						plasma membrane	GTP binding|GTPase activity			ovary(1)	1				all cancers(265;0.00784)|Epithelial(280;0.0286)										0.278261	169.657436	179.866659	64	166	KEEP	---	---	---	---	capture		Silent	SNP	89729611	89729611	6543	1	C	T	T	T	415	32	GBP5	2	2
SLC2A7	155184	broad.mit.edu	37	1	9085118	9085118	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9085118G>C	uc009vmo.1	-	c.67C>G	c.(67-69)CTG>GTG	p.L23V		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	23	Helical; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)										0.642857	31.079302	31.331279	9	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9085118	9085118	15047	1	G	C	C	C	438	34	SLC2A7	3	3
SLC2A7	155184	broad.mit.edu	37	1	9085120	9085120	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9085120G>T	uc009vmo.1	-	c.65C>A	c.(64-66)ACG>AAG	p.T22K		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	22	Helical; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)										0.642857	29.680091	29.932996	9	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9085120	9085120	15047	1	G	T	T	T	520	40	SLC2A7	1	1
SLC2A5	6518	broad.mit.edu	37	1	9097801	9097801	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9097801G>T	uc001apo.2	-	c.1350C>A	c.(1348-1350)CTC>CTA	p.L450L	SLC2A5_uc010nzy.1_Silent_p.L391L|SLC2A5_uc010nzz.1_Silent_p.L335L|SLC2A5_uc010oaa.1_Silent_p.L406L|SLC2A5_uc010oab.1_Silent_p.L450L	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	450	Helical; Name=12; (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)										0.617021	84.966163	85.527277	29	18	KEEP	---	---	---	---	capture		Silent	SNP	9097801	9097801	15045	1	G	T	T	T	522	41	SLC2A5	2	2
SLC2A5	6518	broad.mit.edu	37	1	9117522	9117522	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:9117522A>T	uc001apo.2	-	c.278T>A	c.(277-279)GTG>GAG	p.V93E	SLC2A5_uc010nzz.1_Intron|SLC2A5_uc010oaa.1_Missense_Mutation_p.V49E|SLC2A5_uc010oab.1_Missense_Mutation_p.V93E|SLC2A5_uc010oac.1_Missense_Mutation_p.V93E|SLC2A5_uc001app.3_Missense_Mutation_p.V93E	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	93	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)										0.285714	50.627012	53.221161	18	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9117522	9117522	15045	1	A	T	T	T	78	6	SLC2A5	3	3
BARHL2	343472	broad.mit.edu	37	1	91182574	91182574	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:91182574G>T	uc001dns.2	-	c.179C>A	c.(178-180)ACG>AAG	p.T60K		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	60						nucleus	sequence-specific DNA binding|transcription regulator activity			ovary(1)	1		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GBM(199;3561 4100 22440)								0.306931	87.898362	91.249142	31	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91182574	91182574	1335	1	G	T	T	T	520	40	BARHL2	1	1
TGFBR3	7049	broad.mit.edu	37	1	92184870	92184870	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:92184870G>T	uc001doh.2	-	c.1565C>A	c.(1564-1566)TCC>TAC	p.S522Y	TGFBR3_uc009wde.2_Missense_Mutation_p.S299Y|TGFBR3_uc010osy.1_Missense_Mutation_p.S480Y|TGFBR3_uc001doi.2_Missense_Mutation_p.S521Y|TGFBR3_uc001doj.2_Missense_Mutation_p.S521Y	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	522	ZP.|Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)										0.294118	139.951426	147.04567	55	132	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92184870	92184870	16351	1	G	T	T	T	533	41	TGFBR3	2	2
BCAR3	8412	broad.mit.edu	37	1	94140198	94140199	+	Missense_Mutation	DNP	CC	AT	AT	rs112584760		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:94140198_94140199CC>AT	uc001dpz.2	-	c.288_289GG>AT	c.(286-291)CAGGAC>CAATAC	p.D97Y	BCAR3_uc001dqa.2_Missense_Mutation_p.D97Y|BCAR3_uc001dqb.2_Missense_Mutation_p.D97Y	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3	97					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)										0.6	69.477635	69.822324	24	16	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	94140198	94140199	1370	1	CC	AT	AT	AT	390	30	BCAR3	2	2
LPPR4	9890	broad.mit.edu	37	1	99762312	99762312	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:99762312A>G	uc001dse.2	+	c.427A>G	c.(427-429)ATT>GTT	p.I143V	LPPR4_uc010oue.1_Missense_Mutation_p.I143V	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	143							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)										0.289855	162.015806	170.209251	60	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99762312	99762312	9300	1	A	G	G	G	52	4	LPPR4	4	4
TASP1	55617	broad.mit.edu	37	20	13415754	13415754	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:13415754C>A	uc002woi.2	-	c.1033G>T	c.(1033-1035)GTC>TTC	p.V345F	TASP1_uc010zri.1_Non-coding_Transcript|TASP1_uc002woh.2_Missense_Mutation_p.V322F	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	345					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0														0.885714	103.116704	108.236303	31	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13415754	13415754	16111	20	C	A	A	A	221	17	TASP1	2	2
SEL1L2	80343	broad.mit.edu	37	20	13858203	13858203	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:13858203T>A	uc010gcf.2	-	c.989A>T	c.(988-990)AAG>ATG	p.K330M	SEL1L2_uc002woq.3_Missense_Mutation_p.K191M|SEL1L2_uc010zrl.1_Missense_Mutation_p.K330M|SEL1L2_uc002wor.2_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	330	Extracellular (Potential).|Sel1-like 5.					integral to membrane	binding			ovary(1)	1														0.523077	104.74961	104.77976	34	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13858203	13858203	14497	20	T	A	A	A	728	56	SEL1L2	3	3
CSRP2BP	57325	broad.mit.edu	37	20	18143407	18143407	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:18143407G>T	uc002wqj.2	+	c.1489G>T	c.(1489-1491)GTC>TTC	p.V497F	CSRP2BP_uc002wqk.2_Missense_Mutation_p.V369F|CSRP2BP_uc010zru.1_Missense_Mutation_p.V368F	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	497					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			ovary(2)	2														0.939655	390.323991	407.686615	109	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18143407	18143407	4109	20	G	T	T	T	624	48	CSRP2BP	2	2
CSRP2BP	57325	broad.mit.edu	37	20	18168094	18168094	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:18168094C>A	uc002wqj.2	+	c.2340C>A	c.(2338-2340)CTC>CTA	p.L780L	CSRP2BP_uc002wqk.2_Silent_p.L652L|CSRP2BP_uc010zru.1_Silent_p.L651L	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	780	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			ovary(2)	2														0.458333	64.144065	64.216675	22	26	KEEP	---	---	---	---	capture		Silent	SNP	18168094	18168094	4109	20	C	A	A	A	379	30	CSRP2BP	2	2
SIRPA	140885	broad.mit.edu	37	20	1902267	1902267	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1902267C>A	uc002wft.2	+	c.663C>A	c.(661-663)GAC>GAA	p.D221E	SIRPA_uc002wfq.2_Missense_Mutation_p.D221E|SIRPA_uc010zps.1_Missense_Mutation_p.D201E|SIRPA_uc002wfr.2_Missense_Mutation_p.D221E|SIRPA_uc002wfs.2_Missense_Mutation_p.D221E	NM_080792	NP_542970	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	221	Ig-like C1-type 1.|Extracellular (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GBM(155;1668 1920 5945 42733 48121)								0.459459	56.175039	56.227492	17	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1902267	1902267	14827	20	C	A	A	A	246	19	SIRPA	1	1
PDYN	5173	broad.mit.edu	37	20	1961358	1961358	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:1961358G>T	uc010gaj.2	-	c.376C>A	c.(376-378)CTG>ATG	p.L126M	PDYN_uc002wfv.2_Missense_Mutation_p.L126M|PDYN_uc010zpt.1_Intron	NM_024411	NP_077722	P01213	PDYN_HUMAN	beta-neoendorphin-dynorphin preproprotein	126					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			ovary(1)	1														0.894273	682.855112	717.895156	203	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1961358	1961358	12120	20	G	T	T	T	451	35	PDYN	2	2
RIN2	54453	broad.mit.edu	37	20	19955660	19955660	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:19955660C>T	uc002wro.1	+	c.991C>T	c.(991-993)CAG>TAG	p.Q331*	RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Nonsense_Mutation_p.Q125*	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	331					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(1)	1														0.582524	180.982096	181.593794	60	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	19955660	19955660	13849	20	C	T	T	T	273	21	RIN2	5	2
CST9L	128821	broad.mit.edu	37	20	23548945	23548946	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:23548945_23548946GG>TT	uc002wtk.3	-	c.142_143CC>AA	c.(142-144)CCT>AAT	p.P48N		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	cystatin 9-like precursor	48						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)													0.5	66.546181	66.546181	22	22	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	23548945	23548946	4121	20	GG	TT	TT	TT	455	35	CST9L	2	2
CPXM1	56265	broad.mit.edu	37	20	2778897	2778897	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2778897C>A	uc002wgu.2	-	c.491G>T	c.(490-492)TGT>TTT	p.C164F	CPXM1_uc010gas.2_Missense_Mutation_p.C164F	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	164	F5/8 type C.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2														0.899083	331.408272	348.749863	98	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2778897	2778897	3976	20	C	A	A	A	221	17	CPXM1	2	2
DEFB115	245929	broad.mit.edu	37	20	29847318	29847318	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:29847318A>C	uc002wvp.1	+	c.150A>C	c.(148-150)AAA>AAC	p.K50N		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	beta-defensin 115 precursor	50					defense response to bacterium	extracellular region				ovary(1)	1			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)											0.225806	62.627229	71.198216	28	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29847318	29847318	4581	20	A	C	C	C	37	3	DEFB115	4	4
REM1	28954	broad.mit.edu	37	20	30070222	30070222	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30070222G>T	uc002wwa.2	+	c.556G>T	c.(556-558)GAC>TAC	p.D186Y		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	186					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			pancreas(2)	2	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)							265				0.404494	102.280193	102.990199	36	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30070222	30070222	13691	20	G	T	T	T	429	33	REM1	2	2
FOXS1	2307	broad.mit.edu	37	20	30432902	30432902	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30432902G>T	uc002wwt.1	-	c.444C>A	c.(442-444)ACC>ACA	p.T148T		NM_004118	NP_004109	O43638	FOXS1_HUMAN	forkhead box S1	148					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of sequence-specific DNA binding transcription factor activity|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)	1														0.507937	101.308926	101.31268	32	31	KEEP	---	---	---	---	capture		Silent	SNP	30432902	30432902	6281	20	G	T	T	T	496	39	FOXS1	1	1
HCK	3055	broad.mit.edu	37	20	30662476	30662476	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30662476A>T	uc002wxh.2	+	c.380A>T	c.(379-381)TAC>TTC	p.Y127F	HCK_uc010gdy.2_Missense_Mutation_p.Y106F|HCK_uc002wxi.2_Missense_Mutation_p.Y105F	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	127	SH3.				interspecies interaction between organisms|mesoderm development|protein phosphorylation|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)							262				0.527027	234.287657	234.378633	78	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30662476	30662476	7276	20	A	T	T	T	182	14	HCK	3	3
KIF3B	9371	broad.mit.edu	37	20	30898858	30898858	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30898858G>T	uc002wxq.2	+	c.1278G>T	c.(1276-1278)CGG>CGT	p.R426R	KIF3B_uc010ztv.1_3'UTR|KIF3B_uc010ztw.1_Intron	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	426	Potential.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|mitotic spindle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)											0.515152	103.948202	103.961292	34	32	KEEP	---	---	---	---	capture		Silent	SNP	30898858	30898858	8612	20	G	T	T	T	548	43	KIF3B	2	2
C20orf186	149954	broad.mit.edu	37	20	31685514	31685514	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31685514T>A	uc010zue.1	+	c.1490T>A	c.(1489-1491)CTG>CAG	p.L497Q		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	497						cytoplasm|extracellular region	lipid binding				0														0.520362	372.02882	372.109023	115	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31685514	31685514	2176	20	T	A	A	A	715	55	C20orf186	3	3
ACSS2	55902	broad.mit.edu	37	20	33513944	33513944	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33513944T>C	uc010gey.2	+	c.1802T>C	c.(1801-1803)CTT>CCT	p.L601P	ACSS2_uc002xbc.2_Missense_Mutation_p.L493P|ACSS2_uc010zum.1_Non-coding_Transcript|ACSS2_uc002xbd.2_Missense_Mutation_p.L588P|ACSS2_uc002xbe.2_Missense_Mutation_p.L296P|ACSS2_uc002xbf.2_Intron	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	588					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)									0.088957	15.342199	70.975954	29	297	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33513944	33513944	190	20	T	C	C	C	728	56	ACSS2	4	4
TRPC4AP	26133	broad.mit.edu	37	20	33603840	33603840	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33603840C>A	uc002xbk.2	-	c.1321G>T	c.(1321-1323)GGT>TGT	p.G441C	TRPC4AP_uc010zuq.1_Missense_Mutation_p.G32C|TRPC4AP_uc002xbl.2_Missense_Mutation_p.G433C|TRPC4AP_uc010zur.1_Missense_Mutation_p.G402C|TRPC4AP_uc002xbm.1_Missense_Mutation_p.G441C	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	441					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00936)											0.528846	171.625923	171.70119	55	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33603840	33603840	17132	20	C	A	A	A	273	21	TRPC4AP	2	2
FAM83C	128876	broad.mit.edu	37	20	33874655	33874655	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33874655G>T	uc010zux.1	-	c.1927C>A	c.(1927-1929)CCA>ACA	p.P643T	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.P298T	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	643										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)											0.204819	35.757665	42.446752	17	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33874655	33874655	5861	20	G	T	T	T	559	43	FAM83C	2	2
FAM83C	128876	broad.mit.edu	37	20	33875651	33875651	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33875651A>G	uc010zux.1	-	c.931T>C	c.(931-933)TGT>CGT	p.C311R	FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	311										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)											0.5	9.72568	9.72568	3	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33875651	33875651	5861	20	A	G	G	G	91	7	FAM83C	4	4
CEP250	11190	broad.mit.edu	37	20	34091361	34091361	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34091361G>T	uc002xcm.2	+	c.5164G>T	c.(5164-5166)GGG>TGG	p.G1722W	CEP250_uc010zve.1_Missense_Mutation_p.G1090W	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	1722	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)											0.197832	160.206219	191.563555	73	296	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34091361	34091361	3385	20	G	T	T	T	507	39	CEP250	1	1
EPB41L1	2036	broad.mit.edu	37	20	34761755	34761755	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:34761755C>T	uc002xfb.2	+	c.56C>T	c.(55-57)CCG>CTG	p.P19L	EPB41L1_uc002xeu.2_Intron|EPB41L1_uc010zvo.1_Missense_Mutation_p.P19L|EPB41L1_uc002xev.2_Missense_Mutation_p.P19L|EPB41L1_uc002xew.2_Intron|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Missense_Mutation_p.P19L|EPB41L1_uc002xez.2_Intron	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	19					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)													0.42	62.689896	62.962623	21	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34761755	34761755	5345	20	C	T	T	T	299	23	EPB41L1	1	1
C20orf24	55969	broad.mit.edu	37	20	35238010	35238010	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35238010C>T	uc002xfo.2	+	c.303C>T	c.(301-303)TGC>TGT	p.C101C	C20orf24_uc002xfp.2_Silent_p.C75C|C20orf24_uc002xft.2_Non-coding_Transcript|C20orf24_uc002xfq.2_Silent_p.C75C|C20orf24_uc002xfr.2_Intron|C20orf24_uc002xfs.2_Silent_p.C75C	NM_018840	NP_061328	Q9BUV8	CT024_HUMAN	RAB5-interacting protein isoform a	75							protein binding				0	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)												0.38835	114.178589	115.302654	40	63	KEEP	---	---	---	---	capture		Silent	SNP	35238010	35238010	2185	20	C	T	T	T	337	26	C20orf24	2	2
C20orf117	140710	broad.mit.edu	37	20	35437112	35437112	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:35437112C>A	uc002xgd.1	-	c.1904G>T	c.(1903-1905)CGG>CTG	p.R635L	C20orf117_uc002xge.1_Non-coding_Transcript	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	635											0		Myeloproliferative disorder(115;0.00874)										OREG0025909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.2	9.490769	11.163135	4	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35437112	35437112	2159	20	C	A	A	A	299	23	C20orf117	1	1
KIAA0406	9675	broad.mit.edu	37	20	36640859	36640859	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36640859C>A	uc002xhl.2	-	c.1360G>T	c.(1360-1362)GAT>TAT	p.D454Y	KIAA0406_uc002xhm.2_Missense_Mutation_p.D454Y	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	454							binding				0		Myeloproliferative disorder(115;0.00874)												0.201835	48.206162	57.197987	22	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36640859	36640859	8480	20	C	A	A	A	377	29	KIAA0406	2	2
KIAA1755	85449	broad.mit.edu	37	20	36870209	36870209	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36870209T>G	uc002xhy.1	-	c.324A>C	c.(322-324)CAA>CAC	p.Q108H	KIAA1755_uc002xhz.1_Missense_Mutation_p.Q108H	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	108										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.22741	343.253789	388.589416	151	513	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36870209	36870209	8568	20	T	G	G	G	725	56	KIAA1755	4	4
EMILIN3	90187	broad.mit.edu	37	20	39991417	39991417	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:39991417G>C	uc002xjy.1	-	c.792C>G	c.(790-792)ACC>ACG	p.T264T		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	264						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)												0.167939	42.869707	56.55486	22	109	KEEP	---	---	---	---	capture		Silent	SNP	39991417	39991417	5287	20	G	C	C	C	600	47	EMILIN3	3	3
CHD6	84181	broad.mit.edu	37	20	40033947	40033947	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40033947C>T	uc002xka.1	-	c.7434G>A	c.(7432-7434)CTG>CTA	p.L2478L	CHD6_uc002xjz.1_Silent_p.L15L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2478					chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.122222	14.159371	26.73896	11	79	KEEP	---	---	---	---	capture		Silent	SNP	40033947	40033947	3463	20	C	T	T	T	262	21	CHD6	2	2
CHD6	84181	broad.mit.edu	37	20	40049655	40049655	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40049655C>A	uc002xka.1	-	c.5620G>T	c.(5620-5622)GAG>TAG	p.E1874*		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1874	Poly-Glu.				chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.433155	245.063353	245.787714	81	106	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	40049655	40049655	3463	20	C	A	A	A	403	31	CHD6	5	1
CHD6	84181	broad.mit.edu	37	20	40102043	40102043	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40102043C>A	uc002xka.1	-	c.2583G>T	c.(2581-2583)GCG>GCT	p.A861A	CHD6_uc002xkd.2_Silent_p.A839A	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	861	Helicase C-terminal.				chromatin assembly or disassembly|chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|lung(2)|central_nervous_system(1)|skin(1)	10		Myeloproliferative disorder(115;0.00425)												0.222892	86.272954	98.027373	37	129	KEEP	---	---	---	---	capture		Silent	SNP	40102043	40102043	3463	20	C	A	A	A	288	23	CHD6	1	1
SMOX	54498	broad.mit.edu	37	20	4162573	4162573	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4162573C>T	uc002wkp.2	+	c.559C>T	c.(559-561)CCA>TCA	p.P187S	SMOX_uc002wkk.1_Missense_Mutation_p.P187S|SMOX_uc002wkl.1_Missense_Mutation_p.P187S|SMOX_uc002wkm.1_Missense_Mutation_p.P187S|SMOX_uc002wkn.1_Intron|SMOX_uc010zqo.1_Missense_Mutation_p.P164S|SMOX_uc002wko.1_Missense_Mutation_p.P187S	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	spermine oxidase isoform 1	187					oxidation-reduction process|polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)	1					Spermine(DB00127)									0.444444	141.99804	142.299846	48	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4162573	4162573	15303	20	C	T	T	T	286	22	SMOX	2	2
ADA	100	broad.mit.edu	37	20	43255112	43255112	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43255112G>T	uc002xmj.2	-	c.347C>A	c.(346-348)CCC>CAC	p.P116H	ADA_uc010ggt.2_Non-coding_Transcript	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	116					adenosine catabolic process|cell adhesion|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)									0.362069	116.896611	118.805658	42	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43255112	43255112	231	20	G	T	T	T	559	43	ADA	2	2
WFDC12	128488	broad.mit.edu	37	20	43752871	43752871	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43752871C>A	uc002xnf.1	-	c.115G>T	c.(115-117)GTA>TTA	p.V39L		NM_080869	NP_543145	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12 precursor	39	WAP.				defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)												0.217647	93.296301	105.781035	37	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43752871	43752871	17924	20	C	A	A	A	247	19	WFDC12	1	1
CDH22	64405	broad.mit.edu	37	20	44815306	44815306	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:44815306G>T	uc002xrm.2	-	c.1584C>A	c.(1582-1584)CCC>CCA	p.P528P	CDH22_uc010ghk.1_Silent_p.P528P	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	528	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4		Myeloproliferative disorder(115;0.0122)												0.409938	194.364294	195.490882	66	95	KEEP	---	---	---	---	capture		Silent	SNP	44815306	44815306	3236	20	G	T	T	T	548	43	CDH22	2	2
ELMO2	63916	broad.mit.edu	37	20	45003281	45003281	+	Splice_Site_SNP	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:45003281T>C	uc010zxr.1	-	c.1102_splice	c.e15-1	p.N368_splice	ELMO2_uc010zxq.1_Splice_Site_SNP_p.N88_splice|ELMO2_uc002xrs.1_Splice_Site_SNP_p.N103_splice|ELMO2_uc002xrt.1_Splice_Site_SNP_p.N356_splice|ELMO2_uc002xru.1_Splice_Site_SNP_p.N356_splice|ELMO2_uc010zxs.1_Splice_Site_SNP_p.N173_splice|ELMO2_uc002xrv.1_Splice_Site_SNP_p.N75_splice|ELMO2_uc002xrw.2_Splice_Site_SNP_p.N173_splice	NM_182764	NP_877496			engulfment and cell motility 2						apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)												0.262887	150.247234	160.105275	51	143	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	45003281	45003281	5258	20	T	C	C	C	689	53	ELMO2	5	4
PREX1	57580	broad.mit.edu	37	20	47266655	47266656	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47266655_47266656GG>AA	uc002xtw.1	-	c.2906_2907CC>TT	c.(2905-2907)CCC>CTT	p.P969L	PREX1_uc002xtv.1_Missense_Mutation_p.P266L	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	969					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)											0.480687	342.685583	342.76108	112	121	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	47266655	47266656	12919	20	GG	AA	AA	AA	600	47	PREX1	2	2
PREX1	57580	broad.mit.edu	37	20	47309257	47309257	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:47309257C>G	uc002xtw.1	-	c.989G>C	c.(988-990)CGA>CCA	p.R330P		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	330	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)											0.470219	511.662344	511.904689	150	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47309257	47309257	12919	20	C	G	G	G	403	31	PREX1	3	3
RASSF2	9770	broad.mit.edu	37	20	4768388	4768388	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:4768388A>C	uc002wld.2	-	c.704T>G	c.(703-705)CTG>CGG	p.L235R	RASSF2_uc002wlc.2_Intron|RASSF2_uc002wle.2_Non-coding_Transcript|RASSF2_uc002wlf.2_Missense_Mutation_p.L235R|RASSF2_uc010gbh.2_5'Flank	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	235	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						Melanoma(158;1891 3343 50738)								0.4	30.387289	30.651375	12	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4768388	4768388	13547	20	A	C	C	C	91	7	RASSF2	4	4
ADNP	23394	broad.mit.edu	37	20	49510781	49510781	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49510781G>T	uc002xvt.1	-	c.470C>A	c.(469-471)GCT>GAT	p.A157D	ADNP_uc002xvu.1_Missense_Mutation_p.A157D	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	157					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2														0.059441	-24.002763	34.043612	17	269	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49510781	49510781	324	20	G	T	T	T	442	34	ADNP	2	2
MOCS3	27304	broad.mit.edu	37	20	49576693	49576693	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:49576693A>G	uc002xvy.1	+	c.1314A>G	c.(1312-1314)ACA>ACG	p.T438T	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	438	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			ovary(1)|skin(1)	2														0.22695	77.227357	86.877145	32	109	KEEP	---	---	---	---	capture		Silent	SNP	49576693	49576693	10083	20	A	G	G	G	80	7	MOCS3	4	4
SALL4	57167	broad.mit.edu	37	20	50406738	50406738	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:50406738C>A	uc002xwh.3	-	c.2284G>T	c.(2284-2286)GAC>TAC	p.D762Y	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	762					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2														0.3125	40.815051	42.313239	15	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50406738	50406738	14293	20	C	A	A	A	403	31	SALL4	1	1
BCAS1	8537	broad.mit.edu	37	20	52570011	52570011	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:52570011T>C	uc002xws.2	-	c.1640A>G	c.(1639-1641)GAG>GGG	p.E547G	BCAS1_uc010zza.1_Missense_Mutation_p.E213G|BCAS1_uc010zzb.1_Missense_Mutation_p.E473G|BCAS1_uc010gim.2_Missense_Mutation_p.E403G|BCAS1_uc002xwt.2_Missense_Mutation_p.E533G|BCAS1_uc010gil.1_Missense_Mutation_p.E469G	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	547						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)											0.231481	63.274896	70.461466	25	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52570011	52570011	1371	20	T	C	C	C	702	54	BCAS1	4	4
CSTF1	1477	broad.mit.edu	37	20	54974030	54974030	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:54974030A>G	uc002xxl.1	+	c.653A>G	c.(652-654)GAA>GGA	p.E218G	CSTF1_uc002xxm.1_Missense_Mutation_p.E218G|CSTF1_uc002xxn.1_Missense_Mutation_p.E218G|CSTF1_uc002xxo.1_Missense_Mutation_p.E161G	NM_001033521	NP_001028693	Q05048	CSTF1_HUMAN	cleavage stimulation factor subunit 1	218	WD 3.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(1)	1			Colorectal(105;0.202)											0.453125	195.742204	195.986189	58	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54974030	54974030	4124	20	A	G	G	G	117	9	CSTF1	4	4
CASS4	57091	broad.mit.edu	37	20	55027392	55027392	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:55027392G>T	uc002xxp.2	+	c.1160G>T	c.(1159-1161)CGG>CTG	p.R387L	CASS4_uc002xxq.3_Missense_Mutation_p.R387L|CASS4_uc002xxr.2_Missense_Mutation_p.R387L|CASS4_uc010zze.1_Missense_Mutation_p.R333L|CASS4_uc010gio.2_Intron	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	387	Ser-rich.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)	2														0.220779	42.440762	47.962326	17	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55027392	55027392	2802	20	G	T	T	T	507	39	CASS4	1	1
ZBP1	81030	broad.mit.edu	37	20	56191317	56191317	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56191317A>T	uc002xyo.2	-	c.242T>A	c.(241-243)CTG>CAG	p.L81Q	ZBP1_uc010gjm.2_Missense_Mutation_p.L81Q|ZBP1_uc002xyp.2_Intron|ZBP1_uc010zzn.1_Missense_Mutation_p.L81Q	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	81							double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)											0.313953	75.576729	78.235873	27	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56191317	56191317	18107	20	A	T	T	T	91	7	ZBP1	3	3
ZNF831	128611	broad.mit.edu	37	20	57766770	57766770	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57766770C>A	uc002yan.2	+	c.696C>A	c.(694-696)AGC>AGA	p.S232R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	232						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.48	72.896078	72.913525	24	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57766770	57766770	18784	20	C	A	A	A	324	25	ZNF831	2	2
ZNF831	128611	broad.mit.edu	37	20	57767137	57767137	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57767137C>G	uc002yan.2	+	c.1063C>G	c.(1063-1065)CAG>GAG	p.Q355E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	355						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.384615	15.872475	16.024037	5	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57767137	57767137	18784	20	C	G	G	G	325	25	ZNF831	3	3
ZNF831	128611	broad.mit.edu	37	20	57769045	57769045	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57769045A>G	uc002yan.2	+	c.2971A>G	c.(2971-2973)AGC>GGC	p.S991G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	991						intracellular	nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(29;0.0085)													0.084746	0.94429	11.261738	5	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57769045	57769045	18784	20	A	G	G	G	91	7	ZNF831	4	4
SYCP2	10388	broad.mit.edu	37	20	58443526	58443526	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:58443526T>A	uc002yaz.2	-	c.3930A>T	c.(3928-3930)GCA>GCT	p.A1310A		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1310					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)											0.459075	412.649834	413.058421	129	152	KEEP	---	---	---	---	capture		Silent	SNP	58443526	58443526	15953	20	T	A	A	A	808	63	SYCP2	3	3
LAMA5	3911	broad.mit.edu	37	20	60889747	60889747	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60889747C>A	uc002ycq.2	-	c.8231G>T	c.(8230-8232)GGG>GTG	p.G2744V		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2744	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding|receptor activity|structural molecule activity			pancreas(1)	1	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.454545	13.971925	13.991909	5	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60889747	60889747	8932	20	C	A	A	A	286	22	LAMA5	2	2
COL9A3	1299	broad.mit.edu	37	20	61468494	61468494	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61468494C>G	uc002ydm.2	+	c.1663C>G	c.(1663-1665)CGG>GGG	p.R555G	COL9A3_uc002ydn.2_Missense_Mutation_p.R49G	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	555	Triple-helical region 2 (COL2).				axon guidance	collagen type IX	extracellular matrix structural constituent conferring tensile strength				0	Breast(26;5.68e-08)													0.229299	95.26726	105.78228	36	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61468494	61468494	3847	20	C	G	G	G	399	31	COL9A3	3	3
ZGPAT	84619	broad.mit.edu	37	20	62366088	62366088	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:62366088C>A	uc002ygk.2	+	c.963C>A	c.(961-963)ACC>ACA	p.T321T	ZGPAT_uc002ygi.2_Silent_p.T301T|ZGPAT_uc002ygj.2_Silent_p.T301T|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Silent_p.T301T|ZGPAT_uc002ygm.2_Silent_p.T292T|ZGPAT_uc002ygn.3_Non-coding_Transcript|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	321					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)													0.22449	26.199183	29.617164	11	38	KEEP	---	---	---	---	capture		Silent	SNP	62366088	62366088	18265	20	C	A	A	A	301	24	ZGPAT	2	2
C20orf54	113278	broad.mit.edu	37	20	746024	746024	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:746024C>T	uc002wed.3	-	c.395G>A	c.(394-396)CGG>CAG	p.R132Q	C20orf54_uc002wee.2_Missense_Mutation_p.R132Q	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278 precursor	132			R -> W (in BVVLS).		sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2														0.477273	66.790004	66.808225	21	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	746024	746024	2194	20	C	T	T	T	299	23	C20orf54	1	1
TPTE	7179	broad.mit.edu	37	21	10952930	10952930	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:10952930T>C	uc002yip.1	-	c.267A>G	c.(265-267)GTA>GTG	p.V89V	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.V71V|TPTE_uc002yir.1_Silent_p.V51V|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	89					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)										0.085714	1.799014	7.88629	3	32	KEEP	---	---	---	---	capture		Silent	SNP	10952930	10952930	16974	21	T	C	C	C	626	49	TPTE	4	4
NRIP1	8204	broad.mit.edu	37	21	16340033	16340033	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:16340033C>T	uc002yjx.2	-	c.481G>A	c.(481-483)GGA>AGA	p.G161R		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	161	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)										0.918182	362.049708	380.969006	101	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16340033	16340033	11057	21	C	T	T	T	312	24	NRIP1	2	2
CHODL	140578	broad.mit.edu	37	21	19629135	19629135	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:19629135G>T	uc002ykv.2	+	c.389G>T	c.(388-390)CGA>CTA	p.R130L	CHODL_uc002ykr.2_Missense_Mutation_p.R89L|CHODL_uc002yks.2_Missense_Mutation_p.R89L|CHODL_uc002ykt.2_Missense_Mutation_p.R89L|CHODL_uc002yku.2_Missense_Mutation_p.R89L	NM_024944	NP_079220	Q9H9P2	CHODL_HUMAN	chondrolectin precursor	130	Extracellular (Potential).|C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding				0		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)										0.512195	137.078435	137.090357	42	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19629135	19629135	3498	21	G	T	T	T	507	39	CHODL	1	1
NCAM2	4685	broad.mit.edu	37	21	22664427	22664427	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:22664427G>T	uc002yld.1	+	c.485G>T	c.(484-486)CGG>CTG	p.R162L	NCAM2_uc011acb.1_Missense_Mutation_p.R20L|NCAM2_uc011acc.1_Missense_Mutation_p.R187L	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	162	Ig-like C2-type 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)										0.419643	147.412395	148.041766	47	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22664427	22664427	10602	21	G	T	T	T	507	39	NCAM2	1	1
APP	351	broad.mit.edu	37	21	27254076	27254076	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:27254076C>A	uc002ylz.2	-	c.2218G>T	c.(2218-2220)GCC>TCC	p.A740S	APP_uc011acg.1_Missense_Mutation_p.A248S|APP_uc010glk.2_Missense_Mutation_p.A716S|APP_uc002yma.2_Missense_Mutation_p.A721S|APP_uc011ach.1_Missense_Mutation_p.A684S|APP_uc002ymb.2_Missense_Mutation_p.A665S|APP_uc010glj.2_Missense_Mutation_p.A609S|APP_uc011aci.1_Missense_Mutation_p.A630S	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	740	Cytoplasmic (Potential).|Interaction with G(o)-alpha.	Cleavage; by caspase-6, caspase-8 or caspase-9.			adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)										OREG0026148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.91358	263.172748	276.304039	74	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27254076	27254076	826	21	C	A	A	A	351	27	APP	1	1
ADAMTS5	11096	broad.mit.edu	37	21	28296937	28296937	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28296937T>A	uc002ymg.2	-	c.2228A>T	c.(2227-2229)AAG>ATG	p.K743M		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	743	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.41844	174.489022	175.310058	59	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28296937	28296937	270	21	T	A	A	A	728	56	ADAMTS5	3	3
GRIK1	2897	broad.mit.edu	37	21	30959695	30959695	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:30959695A>G	uc011acs.1	-	c.1784T>C	c.(1783-1785)GTG>GCG	p.V595A	GRIK1_uc002ynn.2_Missense_Mutation_p.V580A|GRIK1_uc011act.1_Missense_Mutation_p.V456A|GRIK1_uc002yno.1_Missense_Mutation_p.V595A|GRIK1_uc010glq.1_Missense_Mutation_p.V438A	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	595	Helical; (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|Topiramate(DB00273)					608				0.426667	87.863301	88.219378	32	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30959695	30959695	7052	21	A	G	G	G	78	6	GRIK1	4	4
CLDN17	26285	broad.mit.edu	37	21	31538609	31538609	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31538609G>A	uc011acv.1	-	c.327C>T	c.(325-327)GGC>GGT	p.G109G		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	109	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2														0.126904	30.735882	57.536273	25	172	KEEP	---	---	---	---	capture		Silent	SNP	31538609	31538609	3614	21	G	A	A	A	431	34	CLDN17	2	2
CLDN17	26285	broad.mit.edu	37	21	31538616	31538616	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31538616C>A	uc011acv.1	-	c.320G>T	c.(319-321)TGC>TTC	p.C107F		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	107	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2														0.421053	238.365433	239.399122	80	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31538616	31538616	3614	21	C	A	A	A	325	25	CLDN17	2	2
CLDN17	26285	broad.mit.edu	37	21	31538712	31538712	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31538712G>T	uc011acv.1	-	c.224C>A	c.(223-225)CCT>CAT	p.P75H		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	75	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2														0.390625	145.017232	146.359657	50	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31538712	31538712	3614	21	G	T	T	T	455	35	CLDN17	2	2
CLDN8	9073	broad.mit.edu	37	21	31588216	31588216	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31588216C>A	uc002ynu.1	-	c.28G>T	c.(28-30)GGG>TGG	p.G10W		NM_199328	NP_955360	P56748	CLD8_HUMAN	claudin 8	10	Helical; (Potential).				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0														0.395349	100.039401	100.861014	34	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31588216	31588216	3628	21	C	A	A	A	273	21	CLDN8	2	2
KRTAP24-1	643803	broad.mit.edu	37	21	31654970	31654970	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31654970G>T	uc002ynv.2	-	c.281C>A	c.(280-282)CCC>CAC	p.P94H		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	94						keratin filament	structural molecule activity				0														0.451327	143.79741	144.032143	51	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31654970	31654970	8863	21	G	T	T	T	559	43	KRTAP24-1	2	2
KRTAP6-2	337967	broad.mit.edu	37	21	31971052	31971052	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31971052A>C	uc011adc.1	-	c.142T>G	c.(142-144)TTC>GTC	p.F48V	KRTAP22-1_uc011add.1_5'Flank	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	48						intermediate filament					0														0.166667	25.324644	33.543489	13	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31971052	31971052	8892	21	A	C	C	C	39	3	KRTAP6-2	4	4
KRTAP8-1	337879	broad.mit.edu	37	21	32185351	32185351	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:32185351T>A	uc002you.2	-	c.188A>T	c.(187-189)TAC>TTC	p.Y63F		NM_175857	NP_787053	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	63						intermediate filament					0														0.450549	249.026715	249.413942	82	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32185351	32185351	8895	21	T	A	A	A	741	57	KRTAP8-1	3	3
TIAM1	7074	broad.mit.edu	37	21	32617896	32617897	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:32617896_32617897CC>AA	uc002yow.1	-	c.1491_1492GG>TT	c.(1489-1494)GTGGAG>GTTTAG	p.E498*	TIAM1_uc011adk.1_Nonsense_Mutation_p.E498*|TIAM1_uc011adl.1_Nonsense_Mutation_p.E498*|TIAM1_uc002yox.1_Nonsense_Mutation_p.E106*	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	498	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|lung(1)	5										780				0.528926	199.21794	199.307676	64	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	32617896	32617897	16418	21	CC	AA	AA	AA	390	30	TIAM1	5	2
TIAM1	7074	broad.mit.edu	37	21	32617977	32617977	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:32617977C>A	uc002yow.1	-	c.1412_splice	c.e7-1	p.G471_splice	TIAM1_uc011adk.1_Splice_Site_SNP_p.G471_splice|TIAM1_uc011adl.1_Splice_Site_SNP_p.G471_splice|TIAM1_uc002yox.1_Splice_Site_SNP_p.G79_splice	NM_003253	NP_003244			T-cell lymphoma invasion and metastasis 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|lung(1)	5									(NCIH2172-Tumor)	780				0.410959	85.330819	85.83771	30	43	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	32617977	32617977	16418	21	C	A	A	A	312	24	TIAM1	5	2
SYNJ1	8867	broad.mit.edu	37	21	34003353	34003353	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34003353C>G	uc002yqh.2	-	c.4791G>C	c.(4789-4791)ACG>ACC	p.T1597T	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.T1511T|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.3_Silent_p.T183T	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1558	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)	4														0.96	186.036653	189.3598	48	2	KEEP	---	---	---	---	capture		Silent	SNP	34003353	34003353	15973	21	C	G	G	G	392	31	SYNJ1	3	3
SLC5A3	6526	broad.mit.edu	37	21	35467934	35467934	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:35467934G>T	uc002yto.2	+	c.437G>T	c.(436-438)GGT>GTT	p.G146V	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	146	Cytoplasmic (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2														0.470297	297.212452	297.367001	95	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35467934	35467934	15163	21	G	T	T	T	572	44	SLC5A3	2	2
MORC3	23515	broad.mit.edu	37	21	37710217	37710217	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37710217G>T	uc002yvi.2	+	c.433G>T	c.(433-435)GTT>TTT	p.V145F		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	145					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2														0.4	110.081251	110.868565	36	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37710217	37710217	10094	21	G	T	T	T	624	48	MORC3	2	2
ERG	2078	broad.mit.edu	37	21	39795437	39795437	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:39795437C>A	uc010gnw.2	-	c.304G>T	c.(304-306)GGC>TGC	p.G102C	ERG_uc002yxa.2_Missense_Mutation_p.G95C|ERG_uc011aek.1_Missense_Mutation_p.G3C|ERG_uc010gnv.2_Missense_Mutation_p.G3C|ERG_uc010gnx.2_Missense_Mutation_p.G102C|ERG_uc011ael.1_Missense_Mutation_p.G102C|ERG_uc002yxb.2_Missense_Mutation_p.G102C|ERG_uc011aem.1_Missense_Mutation_p.G95C|ERG_uc002yxc.3_Missense_Mutation_p.G102C	NM_001136155	NP_001129627	P11308	ERG_HUMAN	ets-related isoform 4	102					cell proliferation|multicellular organismal development|protein phosphorylation|regulation of transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		TMPRSS2/ERG(2058)|FUS/ERG(163)|EWSR1/ERG(162)	prostate(2058)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|ovary(1)	2386		Prostate(19;3.6e-06)				Esophageal Squamous(130;336 1700 3010 3083 40589)				177				0.951613	199.372522	205.495208	59	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39795437	39795437	5415	21	C	A	A	A	286	22	ERG	2	2
B3GALT5	10317	broad.mit.edu	37	21	41033394	41033394	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:41033394G>A	uc002yyb.1	+	c.908G>A	c.(907-909)CGG>CAG	p.R303Q	B3GALT5_uc002yye.2_Missense_Mutation_p.R303Q|B3GALT5_uc002yyi.1_Missense_Mutation_p.R303Q|B3GALT5_uc002yyj.1_Missense_Mutation_p.R303Q|B3GALT5_uc002yyk.1_Missense_Mutation_p.R303Q|B3GALT5_uc002yyl.1_Missense_Mutation_p.R303Q|B3GALT5_uc002yym.1_Missense_Mutation_p.R303Q	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta	303	Lumenal (Potential).				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity				0		Prostate(19;2.55e-06)												0.476987	333.239385	333.353591	114	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41033394	41033394	1271	21	G	A	A	A	507	39	B3GALT5	1	1
FAM3B	54097	broad.mit.edu	37	21	42720533	42720533	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:42720533C>T	uc002yzd.1	+	c.569C>T	c.(568-570)GCC>GTC	p.A190V	FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzb.1_Missense_Mutation_p.A167V|FAM3B_uc002yzc.1_Missense_Mutation_p.A119V	NM_058186	NP_478066	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	167					apoptosis|insulin secretion	extracellular space	cytokine activity				0		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)												0.458333	127.09169	127.2361	44	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42720533	42720533	5778	21	C	T	T	T	338	26	FAM3B	2	2
UMODL1	89766	broad.mit.edu	37	21	43529799	43529799	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:43529799G>C	uc002zag.1	+	c.1647G>C	c.(1645-1647)CGG>CGC	p.R549R	UMODL1_uc002zad.1_Silent_p.R477R|UMODL1_uc002zae.1_Silent_p.R477R|UMODL1_uc002zaf.1_Silent_p.R549R|C21orf128_uc002zak.2_5'Flank	NM_173568	NP_775839	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 2 precursor	549	EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)	2						Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)								0.6	17.250371	17.337541	6	4	KEEP	---	---	---	---	capture		Silent	SNP	43529799	43529799	17538	21	G	C	C	C	548	43	UMODL1	3	3
HSF2BP	11077	broad.mit.edu	37	21	45033781	45033781	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45033781G>T	uc002zdi.2	-	c.622C>A	c.(622-624)CGG>AGG	p.R208R	HSF2BP_uc011aey.1_Silent_p.R133R	NM_007031	NP_008962	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding	208					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding				0				STAD - Stomach adenocarcinoma(101;0.18)										0.362637	98.65082	100.161397	33	58	KEEP	---	---	---	---	capture		Silent	SNP	45033781	45033781	7692	21	G	T	T	T	506	39	HSF2BP	1	1
DNMT3L	29947	broad.mit.edu	37	21	45671573	45671573	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45671573C>A	uc002zeh.1	-	c.702G>T	c.(700-702)GAG>GAT	p.E234D	DNMT3L_uc002zeg.1_Missense_Mutation_p.E234D	NM_013369	NP_037501	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein	234					DNA methylation|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|transcription repressor activity|zinc ion binding				0				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)										0.333333	14.320172	14.775058	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45671573	45671573	4861	21	C	A	A	A	259	20	DNMT3L	2	2
TRPM2	7226	broad.mit.edu	37	21	45774530	45774530	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45774530G>T	uc010gpt.1	+	c.166_splice	c.e2-1	p.Q56_splice	TRPM2_uc002zet.1_Splice_Site_SNP_p.Q56_splice|TRPM2_uc002zeu.1_Splice_Site_SNP_p.Q56_splice|TRPM2_uc002zew.1_Splice_Site_SNP_p.Q56_splice	NM_003307	NP_003298			transient receptor potential cation channel,							integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.350877	55.679048	56.798859	20	37	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	45774530	45774530	17137	21	G	T	T	T	442	34	TRPM2	5	2
TRPM2	7226	broad.mit.edu	37	21	45838357	45838357	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45838357A>T	uc010gpt.1	+	c.3380A>T	c.(3379-3381)TAC>TTC	p.Y1127F	TRPM2_uc002zet.1_Missense_Mutation_p.Y1127F|TRPM2_uc002zeu.1_Missense_Mutation_p.Y1127F|TRPM2_uc002zew.1_Missense_Mutation_p.Y1127F|TRPM2_uc002zex.1_Missense_Mutation_p.Y913F|TRPM2_uc002zey.1_Missense_Mutation_p.Y640F	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1127	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.911765	99.57373	104.819861	31	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45838357	45838357	17137	21	A	T	T	T	182	14	TRPM2	3	3
KRTAP10-7	386675	broad.mit.edu	37	21	46021344	46021344	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46021344T>G	uc002zfn.3	+	c.808T>G	c.(808-810)TGC>GGC	p.C270G	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	keratin associated protein 10-7	275	30 X 5 AA repeats of C-C-X(3).|23.					keratin filament					0														0.378151	245.247893	248.326353	90	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46021344	46021344	8829	21	T	G	G	G	715	55	KRTAP10-7	4	4
KRTAP10-11	386678	broad.mit.edu	37	21	46066914	46066914	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46066914C>T	uc002zfr.3	+	c.539C>T	c.(538-540)ACC>ATC	p.T180I	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198692	NP_941965	P60412	KR10B_HUMAN	keratin associated protein 10-11	180	25 X 5 AA repeats of C-C-X(3).|17.					keratin filament				ovary(1)	1														0.371324	276.360796	280.29335	101	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46066914	46066914	8822	21	C	T	T	T	234	18	KRTAP10-11	2	2
ITGB2	3689	broad.mit.edu	37	21	46310029	46310029	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46310029T>A	uc002zgd.2	-	c.1521A>T	c.(1519-1521)TCA>TCT	p.S507S	ITGB2_uc002zge.2_Silent_p.S507S|ITGB2_uc002zgf.3_Silent_p.S507S|ITGB2_uc011afl.1_Silent_p.S429S|ITGB2_uc010gpw.2_Silent_p.S450S|ITGB2_uc002zgg.2_Silent_p.S507S	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	507	II.|Extracellular (Potential).|Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(3)|central_nervous_system(3)|breast(2)	8				Colorectal(79;0.0669)	Simvastatin(DB00641)									1	39.07026	39.069282	10	0	KEEP	---	---	---	---	capture		Silent	SNP	46310029	46310029	8198	21	T	A	A	A	704	55	ITGB2	3	3
MICAL3	57553	broad.mit.edu	37	22	18301350	18301350	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18301350C>G	uc002zng.3	-	c.4077G>C	c.(4075-4077)AGG>AGC	p.R1359S	MICAL3_uc011agl.1_Missense_Mutation_p.R1275S|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1359	Pro-rich.				oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)										0.957447	171.206158	175.769993	45	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18301350	18301350	9961	22	C	G	G	G	337	26	MICAL3	3	3
SERPIND1	3053	broad.mit.edu	37	22	21134267	21134267	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:21134267G>T	uc002ztc.2	+	c.751G>T	c.(751-753)GAC>TAC	p.D251Y	PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztb.1_Missense_Mutation_p.D223Y	NM_000185	NP_000176	P05546	HEP2_HUMAN	heparin cofactor II precursor	223					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity				0	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)									0.141667	26.191614	41.056281	17	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21134267	21134267	14598	22	G	T	T	T	585	45	SERPIND1	2	2
ZNF280B	140883	broad.mit.edu	37	22	22842728	22842728	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:22842728C>T	uc002zwc.1	-	c.996G>A	c.(994-996)GAG>GAA	p.E332E	LOC96610_uc011aim.1_Intron	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)										0.902778	682.216289	717.315405	195	21	KEEP	---	---	---	---	capture		Silent	SNP	22842728	22842728	18407	22	C	T	T	T	415	32	ZNF280B	2	2
MYO18B	84700	broad.mit.edu	37	22	26306919	26306919	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:26306919C>A	uc003abz.1	+	c.5266C>A	c.(5266-5268)CAG>AAG	p.Q1756K	MYO18B_uc003aca.1_Missense_Mutation_p.Q1637K|MYO18B_uc010guy.1_Missense_Mutation_p.Q1638K|MYO18B_uc010guz.1_Missense_Mutation_p.Q1636K|MYO18B_uc011aka.1_Missense_Mutation_p.Q910K|MYO18B_uc011akb.1_Missense_Mutation_p.Q1269K	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1756	Potential.|Tail.|Gln-rich.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12										968				0.9	173.980701	183.56413	54	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26306919	26306919	10461	22	C	A	A	A	377	29	MYO18B	2	2
MN1	4330	broad.mit.edu	37	22	28194147	28194147	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:28194147C>A	uc003adj.2	-	c.2385G>T	c.(2383-2385)CAG>CAT	p.Q795H		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	795							binding			central_nervous_system(3)|large_intestine(1)|ovary(1)	5										140				0.857143	39.513334	41.235431	12	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28194147	28194147	10064	22	C	A	A	A	363	28	MN1	2	2
SEC14L4	284904	broad.mit.edu	37	22	30899719	30899719	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:30899719G>C	uc003aid.2	-	c.75C>G	c.(73-75)GAC>GAG	p.D25E	SEC14L4_uc011akz.1_Missense_Mutation_p.D25E|SEC14L4_uc003aie.2_5'UTR|SEC14L4_uc003aif.2_5'UTR	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	25						integral to membrane|intracellular	lipid binding|transporter activity				0					Vitamin E(DB00163)									0.171429	13.830952	17.400289	6	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30899719	30899719	14470	22	G	C	C	C	568	44	SEC14L4	3	3
TMPRSS6	164656	broad.mit.edu	37	22	37494471	37494471	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37494471G>T	uc003aqt.1	-	c.321C>A	c.(319-321)GCC>GCA	p.A107A	TMPRSS6_uc003aqs.1_Silent_p.A116A|TMPRSS6_uc003aqu.2_Silent_p.A107A	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	116	Extracellular (Potential).			A -> V (in Ref. 1; CAC85953).	angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)	5														0.880694	1385.321658	1450.885684	406	55	KEEP	---	---	---	---	capture		Silent	SNP	37494471	37494471	16792	22	G	T	T	T	600	47	TMPRSS6	2	2
CYTH4	27128	broad.mit.edu	37	22	37695347	37695348	+	Splice_Site_DNP	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:37695347_37695348GG>TT	uc003arf.2	+	c.434_splice	c.e6+1	p.R145_splice	CYTH4_uc003are.2_Splice_Site_DNP_p.R145_splice|CYTH4_uc011amw.1_Splice_Site_DNP_p.R88_splice|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517			cytohesin 4						regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2														0.956522	155.410579	160.195164	44	2	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	37695347	37695348	4371	22	GG	TT	TT	TT	455	35	CYTH4	5	2
TRIOBP	11078	broad.mit.edu	37	22	38155174	38155175	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:38155174_38155175GG>TT	uc003atr.2	+	c.6227_6228GG>TT	c.(6226-6228)CGG>CTT	p.R2076L	TRIOBP_uc003atu.2_Missense_Mutation_p.R1904L|TRIOBP_uc003atv.2_Missense_Mutation_p.R363L|TRIOBP_uc003atw.2_Missense_Mutation_p.R363L|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.2_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2076	Potential.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)													1	57.753377	57.753347	15	0	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	38155174	38155175	17103	22	GG	TT	TT	TT	507	39	TRIOBP	1	1
GCAT	23464	broad.mit.edu	37	22	38211699	38211699	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:38211699G>C	uc003aua.1	+	c.922G>C	c.(922-924)GTG>CTG	p.V308L	GCAT_uc003atz.2_Missense_Mutation_p.V282L	NM_014291	NP_055106	O75600	KBL_HUMAN	glycine C-acetyltransferase precursor	282					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups				0	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)									0.818182	92.943971	96.085678	27	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38211699	38211699	6550	22	G	C	C	C	572	44	GCAT	3	3
FAM83F	113828	broad.mit.edu	37	22	40417319	40417319	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:40417319G>T	uc003ayk.1	+	c.805G>T	c.(805-807)GAC>TAC	p.D269Y		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	269										breast(1)	1														0.920245	475.936406	505.196688	150	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40417319	40417319	5864	22	G	T	T	T	533	41	FAM83F	2	2
MEI1	150365	broad.mit.edu	37	22	42125699	42125699	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:42125699G>T	uc003baz.1	+	c.895G>T	c.(895-897)GTG>TTG	p.V299L	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.V299L|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	299							binding			skin(1)	1														0.92	76.952882	80.045736	23	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42125699	42125699	9854	22	G	T	T	T	572	44	MEI1	2	2
SLC9A4	389015	broad.mit.edu	37	2	103095315	103095315	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103095315A>T	uc002tbz.3	+	c.274A>T	c.(274-276)AGG>TGG	p.R92W		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	92	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)	1														0.586207	277.994936	278.936148	85	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103095315	103095315	15213	2	A	T	T	T	88	7	SLC9A4	3	3
ST6GAL2	84620	broad.mit.edu	37	2	107460148	107460148	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:107460148G>A	uc002tdq.2	-	c.286C>T	c.(286-288)CTG>TTG	p.L96L	ST6GAL2_uc002tdr.2_Silent_p.L96L|ST6GAL2_uc002tds.3_Silent_p.L96L	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	96	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(3)	9														0.578431	197.840944	198.389141	59	43	KEEP	---	---	---	---	capture		Silent	SNP	107460148	107460148	15740	2	G	A	A	A	451	35	ST6GAL2	2	2
CKAP2L	150468	broad.mit.edu	37	2	113514405	113514405	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113514405T>C	uc002tie.2	-	c.543A>G	c.(541-543)AAA>AAG	p.K181K	CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Silent_p.K16K|CKAP2L_uc010yxq.1_Silent_p.K16K	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	181											0														0.244444	30.202478	32.880005	11	34	KEEP	---	---	---	---	capture		Silent	SNP	113514405	113514405	3579	2	T	C	C	C	725	56	CKAP2L	4	4
IL1F7	27178	broad.mit.edu	37	2	113676202	113676202	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113676202G>A	uc002tij.2	+	c.473G>A	c.(472-474)AGG>AAG	p.R158K	IL1F7_uc002tik.2_Missense_Mutation_p.R137K|IL1F7_uc002til.2_Missense_Mutation_p.R118K|IL1F7_uc002tim.2_Missense_Mutation_p.R97K|IL1F7_uc002tin.2_Missense_Mutation_p.R132K	NM_014439	NP_055254	Q9NZH6	IL1F7_HUMAN	interleukin 1 family, member 7 isoform 1	158					immune response	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			ovary(1)	1														0.627119	124.686717	125.523283	37	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113676202	113676202	7956	2	G	A	A	A	455	35	IL1F7	2	2
IL1F8	27177	broad.mit.edu	37	2	113780347	113780347	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:113780347C>A	uc002tiq.1	-	c.399G>T	c.(397-399)AAG>AAT	p.K133N		NM_014438	NP_055253	Q9NZH7	IL1F8_HUMAN	interleukin 1 family, member 8 isoform 1	133					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			ovary(1)	1														0.337662	129.724706	133.32748	52	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113780347	113780347	7957	2	C	A	A	A	415	32	IL1F8	2	2
NTSR2	23620	broad.mit.edu	37	2	11800230	11800230	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:11800230A>T	uc002rbq.3	-	c.928T>A	c.(928-930)TGG>AGG	p.W310R		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	310	Helical; Name=6; (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)									0.605263	75.731239	76.099643	23	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11800230	11800230	11116	2	A	T	T	T	91	7	NTSR2	3	3
TMEM177	80775	broad.mit.edu	37	2	120438478	120438478	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:120438478A>G	uc010flg.1	+	c.49A>G	c.(49-51)ACA>GCA	p.T17A	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.T17A|TMEM177_uc002tmd.2_Missense_Mutation_p.T17A|TMEM177_uc010flh.2_Missense_Mutation_p.T17A	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	17						integral to membrane				ovary(1)	1	Colorectal(110;0.196)													0.188235	36.659678	44.385354	16	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120438478	120438478	16628	2	A	G	G	G	130	10	TMEM177	4	4
TMEM177	80775	broad.mit.edu	37	2	120438500	120438500	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:120438500G>A	uc010flg.1	+	c.71G>A	c.(70-72)TGT>TAT	p.C24Y	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.C24Y|TMEM177_uc002tmd.2_Missense_Mutation_p.C24Y|TMEM177_uc010flh.2_Missense_Mutation_p.C24Y	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	24	Helical; (Potential).					integral to membrane				ovary(1)	1	Colorectal(110;0.196)													0.207792	61.414472	73.612176	32	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120438500	120438500	16628	2	G	A	A	A	624	48	TMEM177	2	2
PTPN4	5775	broad.mit.edu	37	2	120709587	120709587	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:120709587A>C	uc002tmf.1	+	c.1695A>C	c.(1693-1695)CAA>CAC	p.Q565H	PTPN4_uc010flj.1_Missense_Mutation_p.Q278H|PTPN4_uc010yyr.1_Missense_Mutation_p.Q198H	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	565	PDZ.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)									0.11194	14.627547	34.568355	15	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120709587	120709587	13247	2	A	C	C	C	37	3	PTPN4	4	4
CNTNAP5	129684	broad.mit.edu	37	2	125660604	125660604	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:125660604C>A	uc010flu.2	+	c.3582C>A	c.(3580-3582)ACC>ACA	p.T1194T	CNTNAP5_uc002tno.2_Silent_p.T1193T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1193	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)										0.184783	33.616485	42.194089	17	75	KEEP	---	---	---	---	capture		Silent	SNP	125660604	125660604	3788	2	C	A	A	A	301	24	CNTNAP5	2	2
CYP27C1	339761	broad.mit.edu	37	2	127960975	127960975	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:127960975C>A	uc002tod.2	-	c.151G>T	c.(151-153)GAT>TAT	p.D51Y		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	51					oxidation-reduction process	membrane	electron carrier activity|heme binding|monooxygenase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)										0.25	60.625963	66.308349	25	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127960975	127960975	4325	2	C	A	A	A	377	29	CYP27C1	2	2
MYO7B	4648	broad.mit.edu	37	2	128341865	128341865	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128341865G>T	uc002top.2	+	c.1512G>T	c.(1510-1512)ATG>ATT	p.M504I		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	504	Myosin head-like.					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)										0.72093	98.754273	100.663783	31	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128341865	128341865	10478	2	G	T	T	T	585	45	MYO7B	2	2
RAB6C	84084	broad.mit.edu	37	2	130738129	130738129	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:130738129G>A	uc002tpx.1	+	c.441G>A	c.(439-441)GGG>GGA	p.G147G		NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	147					protein transport|response to drug|small GTPase mediated signal transduction	intracellular	GTP binding|GTPase activity			lung(1)	1	Colorectal(110;0.1)													0.311295	595.992473	619.012242	226	500	KEEP	---	---	---	---	capture		Silent	SNP	130738129	130738129	13412	2	G	A	A	A	535	42	RAB6C	2	2
FAM123C	205147	broad.mit.edu	37	2	131520623	131520623	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131520623C>T	uc002trw.2	+	c.978C>T	c.(976-978)GGC>GGT	p.G326G	FAM123C_uc010fmv.2_Silent_p.G326G|FAM123C_uc010fms.1_Silent_p.G326G|FAM123C_uc010fmt.1_Silent_p.G326G|FAM123C_uc010fmu.1_Silent_p.G326G	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	326										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)										0.226415	26.172113	29.816256	12	41	KEEP	---	---	---	---	capture		Silent	SNP	131520623	131520623	5621	2	C	T	T	T	327	26	FAM123C	2	2
POTEE	445582	broad.mit.edu	37	2	131984435	131984435	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:131984435A>T	uc002tsn.2	+	c.850A>T	c.(850-852)AAA>TAA	p.K284*	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	284	ANK 4.						ATP binding				0														0.048872	-33.849994	23.688553	13	253	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	131984435	131984435	12694	2	A	T	T	T	13	1	POTEE	5	3
NCKAP5	344148	broad.mit.edu	37	2	133540303	133540303	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133540303G>C	uc002ttp.2	-	c.4081C>G	c.(4081-4083)CAG>GAG	p.Q1361E	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1361							protein binding				0														0.226087	70.696224	78.614078	26	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133540303	133540303	10622	2	G	C	C	C	585	45	NCKAP5	3	3
NCKAP5	344148	broad.mit.edu	37	2	133540444	133540444	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133540444G>T	uc002ttp.2	-	c.3940C>A	c.(3940-3942)CGG>AGG	p.R1314R	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1314							protein binding				0														0.232759	68.586903	76.157117	27	89	KEEP	---	---	---	---	capture		Silent	SNP	133540444	133540444	10622	2	G	T	T	T	506	39	NCKAP5	1	1
NCKAP5	344148	broad.mit.edu	37	2	133542197	133542197	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133542197A>G	uc002ttp.2	-	c.2187T>C	c.(2185-2187)TAT>TAC	p.Y729Y	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	729							protein binding				0														0.260135	224.553126	239.962653	77	219	KEEP	---	---	---	---	capture		Silent	SNP	133542197	133542197	10622	2	A	G	G	G	206	16	NCKAP5	4	4
MGAT5	4249	broad.mit.edu	37	2	135099322	135099322	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:135099322G>T	uc002ttv.1	+	c.969G>T	c.(967-969)GAG>GAT	p.E323D		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	323	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.0964)										0.593496	231.990967	232.929762	73	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135099322	135099322	9938	2	G	T	T	T	438	34	MGAT5	2	2
YSK4	80122	broad.mit.edu	37	2	135743637	135743637	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:135743637C>A	uc002tue.1	-	c.2805G>T	c.(2803-2805)AAG>AAT	p.K935N	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.K822N|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.K663N|YSK4_uc002tui.3_Missense_Mutation_p.K952N	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	935					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)						411				0.28125	23.968049	25.340248	9	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135743637	135743637	18078	2	C	A	A	A	259	20	YSK4	2	2
LCT	3938	broad.mit.edu	37	2	136564957	136564957	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136564957A>C	uc002tuu.1	-	c.3914T>G	c.(3913-3915)CTC>CGC	p.L1305R		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1305	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.376812	68.04276	68.957467	26	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136564957	136564957	9017	2	A	C	C	C	143	11	LCT	4	4
THSD7B	80731	broad.mit.edu	37	2	137814281	137814281	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:137814281G>A	uc002tva.1	+	c.338G>A	c.(337-339)CGC>CAC	p.R113H	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.2_Missense_Mutation_p.R3H	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.260204	123.987702	134.159432	51	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137814281	137814281	16408	2	G	A	A	A	494	38	THSD7B	1	1
THSD7B	80731	broad.mit.edu	37	2	137990656	137990656	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:137990656G>T	uc002tva.1	+	c.2010G>T	c.(2008-2010)CGG>CGT	p.R670R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.R560R	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.24375	91.144306	100.721353	39	121	KEEP	---	---	---	---	capture		Silent	SNP	137990656	137990656	16408	2	G	T	T	T	522	41	THSD7B	2	2
THSD7B	80731	broad.mit.edu	37	2	138413070	138413070	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:138413070G>A	uc002tva.1	+	c.3859_splice	c.e21-1	p.G1287_splice	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.177419	23.784772	29.863232	11	51	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	138413070	138413070	16408	2	G	A	A	A	455	35	THSD7B	5	2
NXPH2	11249	broad.mit.edu	37	2	139428571	139428571	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:139428571C>A	uc002tvi.2	-	c.716G>T	c.(715-717)AGT>ATT	p.S239I		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	239	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)										0.256809	173.162112	186.92053	66	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139428571	139428571	11196	2	C	A	A	A	260	20	NXPH2	2	2
NXPH2	11249	broad.mit.edu	37	2	139428608	139428608	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:139428608G>A	uc002tvi.2	-	c.679C>T	c.(679-681)CCC>TCC	p.P227S		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	227	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)										0.626794	408.36709	411.325653	131	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139428608	139428608	11196	2	G	A	A	A	546	42	NXPH2	2	2
LRP1B	53353	broad.mit.edu	37	2	141081474	141081474	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141081474T>A	uc002tvj.1	-	c.12502A>T	c.(12502-12504)AAA>TAA	p.K4168*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4168	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		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)			0.327103	91.98553	94.823946	35	72	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	141081474	141081474	9328	2	T	A	A	A	793	61	LRP1B	5	3
LRP1B	53353	broad.mit.edu	37	2	141122288	141122288	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141122288C>G	uc002tvj.1	-	c.11073G>C	c.(11071-11073)TGG>TGC	p.W3691C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3691	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)			0.12037	11.396173	26.673119	13	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141122288	141122288	9328	2	C	G	G	G	286	22	LRP1B	3	3
LRP1B	53353	broad.mit.edu	37	2	141208192	141208192	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141208192C>A	uc002tvj.1	-	c.10002G>T	c.(10000-10002)TGG>TGT	p.W3334C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3334	Extracellular (Potential).|LDL-receptor class A 21.				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)			0.29697	125.91132	131.993094	49	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141208192	141208192	9328	2	C	A	A	A	390	30	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141283910	141283910	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141283910C>A	uc002tvj.1	-	c.7772G>T	c.(7771-7773)TGT>TTT	p.C2591F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2591	Extracellular (Potential).|LDL-receptor class A 13.				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)			0.098684	9.600601	34.104538	15	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141283910	141283910	9328	2	C	A	A	A	221	17	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141528456	141528456	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141528456A>T	uc002tvj.1	-	c.5620T>A	c.(5620-5622)TGT>AGT	p.C1874S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1874	Extracellular (Potential).|EGF-like 4.				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)			0.281106	176.088236	185.429272	61	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141528456	141528456	9328	2	A	T	T	T	104	8	LRP1B	3	3
LRP1B	53353	broad.mit.edu	37	2	141641395	141641395	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141641395G>T	uc002tvj.1	-	c.4160C>A	c.(4159-4161)CCA>CAA	p.P1387Q	LRP1B_uc010fnl.1_Missense_Mutation_p.P569Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1387	Extracellular (Potential).|LDL-receptor class B 10.				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)			0.158192	48.548858	68.333303	28	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141641395	141641395	9328	2	G	T	T	T	611	47	LRP1B	2	2
LRP1B	53353	broad.mit.edu	37	2	141709464	141709464	+	Missense_Mutation	SNP	C	A	A	rs28483746		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141709464C>A	uc002tvj.1	-	c.2933G>T	c.(2932-2934)GGA>GTA	p.G978V	LRP1B_uc010fnl.1_Missense_Mutation_p.G160V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	978	Extracellular (Potential).|LDL-receptor class A 6.				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)			0.313725	123.471891	128.182122	48	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141709464	141709464	9328	2	C	A	A	A	390	30	LRP1B	2	2
KYNU	8942	broad.mit.edu	37	2	143742745	143742745	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:143742745C>T	uc002tvl.2	+	c.822C>T	c.(820-822)TCC>TCT	p.S274S	KYNU_uc002tvk.2_Silent_p.S274S|KYNU_uc010fnm.2_Silent_p.S274S	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	274					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)									0.177966	46.707383	58.225813	21	97	KEEP	---	---	---	---	capture		Silent	SNP	143742745	143742745	8910	2	C	T	T	T	301	24	KYNU	2	2
ZEB2	9839	broad.mit.edu	37	2	145147418	145147418	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:145147418T>A	uc002tvu.2	-	c.3245A>T	c.(3244-3246)AAG>ATG	p.K1082M	ZEB2_uc002tvv.2_Missense_Mutation_p.K1076M|ZEB2_uc010zbm.1_Missense_Mutation_p.K1053M|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	1082					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|large_intestine(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.112)		Melanoma(33;1235 1264 5755 16332)								0.333333	94.71501	97.224773	34	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145147418	145147418	18212	2	T	A	A	A	728	56	ZEB2	3	3
ZEB2	9839	broad.mit.edu	37	2	145182411	145182411	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:145182411T>A	uc002tvu.2	-	c.355A>T	c.(355-357)ACT>TCT	p.T119S	ZEB2_uc002tvv.2_Missense_Mutation_p.T113S|ZEB2_uc010zbm.1_Intron|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.T148S	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	119					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|large_intestine(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.112)		Melanoma(33;1235 1264 5755 16332)								0.283422	145.805148	153.677914	53	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145182411	145182411	18212	2	T	A	A	A	767	59	ZEB2	3	3
EPC2	26122	broad.mit.edu	37	2	149519400	149519400	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:149519400G>T	uc010zbt.1	+	c.716G>T	c.(715-717)CGA>CTA	p.R239L		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2	239					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)										0.073171	-0.305285	7.372087	3	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149519400	149519400	5354	2	G	T	T	T	481	37	EPC2	1	1
RIF1	55183	broad.mit.edu	37	2	152319744	152319744	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152319744C>T	uc002txm.2	+	c.3710C>T	c.(3709-3711)CCA>CTA	p.P1237L	RIF1_uc002txl.2_Missense_Mutation_p.P1237L|RIF1_uc002txn.2_Missense_Mutation_p.P1237L|RIF1_uc002txo.2_Missense_Mutation_p.P1237L|RIF1_uc002txp.2_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1237					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|lung(2)|kidney(1)	12				BRCA - Breast invasive adenocarcinoma(221;0.0429)						950				0.394161	162.51873	163.862775	54	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152319744	152319744	13834	2	C	T	T	T	273	21	RIF1	2	2
NEB	4703	broad.mit.edu	37	2	152522015	152522015	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152522015C>A	uc010fnx.2	-	c.5070G>T	c.(5068-5070)GGG>GGT	p.G1690G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1690					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.545455	34.791366	34.829995	12	10	KEEP	---	---	---	---	capture		Silent	SNP	152522015	152522015	10701	2	C	A	A	A	379	30	NEB	2	2
NEB	4703	broad.mit.edu	37	2	152544162	152544162	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152544162G>A	uc010fnx.2	-	c.2501C>T	c.(2500-2502)GCC>GTC	p.A834V		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	834	Nebulin 19.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.443182	106.471987	106.705965	39	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152544162	152544162	10701	2	G	A	A	A	546	42	NEB	2	2
GALNT13	114805	broad.mit.edu	37	2	155157959	155157959	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155157959G>T	uc002tyt.3	+	c.1013G>T	c.(1012-1014)TGC>TTC	p.C338F	GALNT13_uc002tyr.3_Missense_Mutation_p.C338F|GALNT13_uc010foc.1_Missense_Mutation_p.C157F|GALNT13_uc010fod.2_Missense_Mutation_p.C91F	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	338	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)	5														0.247967	152.406887	166.523355	61	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155157959	155157959	6475	2	G	T	T	T	598	46	GALNT13	2	2
GALNT13	114805	broad.mit.edu	37	2	155295170	155295170	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155295170A>C	uc002tyt.3	+	c.1462A>C	c.(1462-1464)AAT>CAT	p.N488H	GALNT13_uc002tyr.3_Missense_Mutation_p.N488H|GALNT13_uc010fod.2_Missense_Mutation_p.Q220P	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	488	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)	5														0.083916	4.404032	29.445651	12	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155295170	155295170	6475	2	A	C	C	C	65	5	GALNT13	4	4
KCNJ3	3760	broad.mit.edu	37	2	155711649	155711649	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:155711649C>A	uc002tyv.1	+	c.1330C>A	c.(1330-1332)CCG>ACG	p.P444T	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	444	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			pancreas(1)	1					Halothane(DB01159)									0.358779	254.663313	259.270058	94	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155711649	155711649	8357	2	C	A	A	A	390	30	KCNJ3	2	2
ACVR1C	130399	broad.mit.edu	37	2	158406903	158406903	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:158406903A>G	uc002tzk.3	-	c.546T>C	c.(544-546)GGT>GGC	p.G182G	ACVR1C_uc002tzl.3_Silent_p.G102G|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Silent_p.G132G	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	182	Cytoplasmic (Potential).|GS.				apoptosis|cell differentiation|protein phosphorylation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(2)|lung(2)	4										127				0.233333	69.034426	76.853523	28	92	KEEP	---	---	---	---	capture		Silent	SNP	158406903	158406903	223	2	A	G	G	G	119	10	ACVR1C	4	4
ACVR1C	130399	broad.mit.edu	37	2	158412629	158412629	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:158412629C>G	uc002tzk.3	-	c.520G>C	c.(520-522)GTG>CTG	p.V174L	ACVR1C_uc002tzl.3_Intron|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.V124L	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	174	Cytoplasmic (Potential).|GS.				apoptosis|cell differentiation|protein phosphorylation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(2)|lung(2)	4										127				0.449438	125.657099	125.842872	40	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158412629	158412629	223	2	C	G	G	G	221	17	ACVR1C	3	3
BAZ2B	29994	broad.mit.edu	37	2	160239263	160239263	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160239263C>A	uc002uao.2	-	c.3812G>T	c.(3811-3813)GGC>GTC	p.G1271V	BAZ2B_uc002uap.2_Missense_Mutation_p.G1235V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|transcription regulator activity|zinc ion binding			ovary(3)	3														0.056818	-7.998755	10.155908	5	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160239263	160239263	1353	2	C	A	A	A	338	26	BAZ2B	2	2
PLA2R1	22925	broad.mit.edu	37	2	160806217	160806217	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160806217G>A	uc002ube.1	-	c.3611C>T	c.(3610-3612)TCC>TTC	p.S1204F	PLA2R1_uc010zcp.1_Missense_Mutation_p.S1204F|PLA2R1_uc002ubf.2_Missense_Mutation_p.S1204F	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	1204	Extracellular (Potential).|C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)	1														0.526667	242.470084	242.559643	79	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160806217	160806217	12436	2	G	A	A	A	533	41	PLA2R1	2	2
PLA2R1	22925	broad.mit.edu	37	2	160813101	160813101	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160813101C>T	uc002ube.1	-	c.2942G>A	c.(2941-2943)TGG>TAG	p.W981*	PLA2R1_uc010zcp.1_Nonsense_Mutation_p.W981*|PLA2R1_uc002ubf.2_Nonsense_Mutation_p.W981*	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	981	Extracellular (Potential).|C-type lectin 6.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)	1														0.272031	180.196715	192.436372	71	190	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	160813101	160813101	12436	2	C	T	T	T	273	21	PLA2R1	5	2
PLA2R1	22925	broad.mit.edu	37	2	160813135	160813135	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160813135G>T	uc002ube.1	-	c.2908C>A	c.(2908-2910)CTT>ATT	p.L970I	PLA2R1_uc010zcp.1_Missense_Mutation_p.L970I|PLA2R1_uc002ubf.2_Missense_Mutation_p.L970I	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1 isoform 1 precursor	970	Extracellular (Potential).|C-type lectin 6.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)	1														0.074074	-4.852077	35.383445	16	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160813135	160813135	12436	2	G	T	T	T	455	35	PLA2R1	2	2
SLC4A10	57282	broad.mit.edu	37	2	162735742	162735742	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162735742C>T	uc002ubx.3	+	c.1050C>T	c.(1048-1050)GTC>GTT	p.V350V	SLC4A10_uc010fpa.1_Silent_p.V362V|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc002uby.3_Silent_p.V320V|SLC4A10_uc010zcs.1_Silent_p.V331V	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	350	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5														0.096386	14.370994	68.593687	32	300	KEEP	---	---	---	---	capture		Silent	SNP	162735742	162735742	15148	2	C	T	T	T	366	29	SLC4A10	2	2
KCNH7	90134	broad.mit.edu	37	2	163241388	163241388	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163241388C>T	uc002uch.1	-	c.2772G>A	c.(2770-2772)AAG>AAA	p.K924K		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	924	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)	3					Ibutilide(DB00308)	GBM(196;1492 2208 17507 24132 45496)								0.099644	25.384438	70.396166	28	253	KEEP	---	---	---	---	capture		Silent	SNP	163241388	163241388	8342	2	C	T	T	T	415	32	KCNH7	2	2
FIGN	55137	broad.mit.edu	37	2	164466754	164466754	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:164466754T>C	uc002uck.1	-	c.1588A>G	c.(1588-1590)ACA>GCA	p.T530A		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	530	ATP (Potential).					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)	3														0.259259	161.833511	174.578179	63	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164466754	164466754	6129	2	T	C	C	C	754	58	FIGN	4	4
SLC38A11	151258	broad.mit.edu	37	2	165802212	165802212	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165802212T>G	uc002ucv.1	-	c.87A>C	c.(85-87)AAA>AAC	p.K29N	SLC38A11_uc002ucu.1_Missense_Mutation_p.K29N|SLC38A11_uc002ucw.1_Missense_Mutation_p.K29N	NM_173512	NP_775783	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	29	Extracellular (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)	1														0.240678	158.099563	176.307055	71	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165802212	165802212	15100	2	T	G	G	G	725	56	SLC38A11	4	4
SCN3A	6328	broad.mit.edu	37	2	165948901	165948901	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165948901A>C	uc002ucx.2	-	c.4670T>G	c.(4669-4671)GTT>GGT	p.V1557G	SCN3A_uc010zcy.1_Missense_Mutation_p.V40G|SCN3A_uc002ucy.2_Missense_Mutation_p.V1508G|SCN3A_uc002ucz.2_Missense_Mutation_p.V1508G	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1557	Helical; Name=S2 of repeat IV; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.06	-8.544199	21.81397	9	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165948901	165948901	14400	2	A	C	C	C	26	2	SCN3A	4	4
SCN3A	6328	broad.mit.edu	37	2	165986775	165986775	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165986775G>T	uc002ucx.2	-	c.2597C>A	c.(2596-2598)CCC>CAC	p.P866H	SCN3A_uc002ucy.2_Missense_Mutation_p.P817H|SCN3A_uc002ucz.2_Missense_Mutation_p.P817H|SCN3A_uc002uda.1_Missense_Mutation_p.P686H|SCN3A_uc002udb.1_Missense_Mutation_p.P686H	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	866	Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.073892	-5.20634	32.637314	15	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165986775	165986775	14400	2	G	T	T	T	559	43	SCN3A	2	2
SCN3A	6328	broad.mit.edu	37	2	165994467	165994467	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165994467G>A	uc002ucx.2	-	c.2313C>T	c.(2311-2313)GTC>GTT	p.V771V	SCN3A_uc002ucy.2_Silent_p.V722V|SCN3A_uc002ucz.2_Silent_p.V722V|SCN3A_uc002uda.1_Silent_p.V591V|SCN3A_uc002udb.1_Silent_p.V591V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	771	Helical; Name=S1 of repeat II; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.507177	345.250502	345.259825	106	103	KEEP	---	---	---	---	capture		Silent	SNP	165994467	165994467	14400	2	G	A	A	A	418	33	SCN3A	2	2
CSRNP3	80034	broad.mit.edu	37	2	166532870	166532870	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166532870C>G	uc002udf.2	+	c.457C>G	c.(457-459)CTG>GTG	p.L153V	CSRNP3_uc002udg.2_Missense_Mutation_p.L153V	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	153					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)	4														0.100703	90.602143	226.525693	86	768	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166532870	166532870	4106	2	C	G	G	G	259	20	CSRNP3	3	3
GALNT3	2591	broad.mit.edu	37	2	166606373	166606373	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:166606373C>A	uc010fph.1	-	c.1658G>T	c.(1657-1659)CGG>CTG	p.R553L		NM_004482	NP_004473	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	553	Ricin B-type lectin.|Lumenal (Potential).				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(2)|ovary(1)	3														0.238356	228.919946	251.687091	87	278	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166606373	166606373	6478	2	C	A	A	A	299	23	GALNT3	1	1
SCN7A	6332	broad.mit.edu	37	2	167297982	167297982	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167297982C>G	uc002udu.1	-	c.2081G>C	c.(2080-2082)TGG>TCG	p.W694S	SCN7A_uc010fpm.1_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	694					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.442688	297.609492	298.341132	112	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167297982	167297982	14405	2	C	G	G	G	273	21	SCN7A	3	3
SCN7A	6332	broad.mit.edu	37	2	167327161	167327161	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:167327161T>G	uc002udu.1	-	c.628A>C	c.(628-630)ACT>CCT	p.T210P	SCN7A_uc010fpm.1_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	210	Helical; Voltage-sensor; Name=S4 of repeat I; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.098361	4.499982	14.361976	6	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167327161	167327161	14405	2	T	G	G	G	780	60	SCN7A	4	4
XIRP2	129446	broad.mit.edu	37	2	168103170	168103170	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168103170T>G	uc002udx.2	+	c.5268T>G	c.(5266-5268)GAT>GAG	p.D1756E	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1581E|XIRP2_uc010fpq.2_Missense_Mutation_p.D1534E|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1581					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.340136	310.30798	317.000595	100	194	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168103170	168103170	18011	2	T	G	G	G	673	52	XIRP2	4	4
SPC25	57405	broad.mit.edu	37	2	169732593	169732593	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169732593C>A	uc002uel.2	-	c.440G>T	c.(439-441)CGA>CTA	p.R147L		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	spindle pole body component 25	147	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)	1														0.325581	38.134071	39.295306	14	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169732593	169732593	15532	2	C	A	A	A	403	31	SPC25	1	1
LRP2	4036	broad.mit.edu	37	2	170063602	170063602	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170063602C>A	uc002ues.2	-	c.6628G>T	c.(6628-6630)GGG>TGG	p.G2210W		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2210	LDL-receptor class B 22.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.434896	507.614369	509.021514	167	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170063602	170063602	9329	2	C	A	A	A	273	21	LRP2	2	2
LRP2	4036	broad.mit.edu	37	2	170097528	170097528	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170097528G>T	uc002ues.2	-	c.4015C>A	c.(4015-4017)CCC>ACC	p.P1339T	LRP2_uc010zdf.1_Missense_Mutation_p.P1202T	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1339	LDL-receptor class A 15.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.381166	238.911825	241.67656	85	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170097528	170097528	9329	2	G	T	T	T	559	43	LRP2	2	2
TLK1	9874	broad.mit.edu	37	2	171871453	171871453	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:171871453C>T	uc002ugo.2	-	c.1305G>A	c.(1303-1305)GAG>GAA	p.E435E	TLK1_uc002ugn.2_Silent_p.E414E|TLK1_uc002ugp.2_Silent_p.E366E|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Silent_p.E318E	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 2	414	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				0.525084	526.558329	526.720143	157	142	KEEP	---	---	---	---	capture		Silent	SNP	171871453	171871453	16473	2	C	T	T	T	311	24	TLK1	2	2
ZAK	51776	broad.mit.edu	37	2	174128549	174128549	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:174128549T>G	uc002uhz.2	+	c.1628T>G	c.(1627-1629)GTG>GGG	p.V543G		NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	543					activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation	cytoplasm|nucleus	ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.176)							532				0.109489	18.53434	39.21446	15	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	174128549	174128549	18095	2	T	G	G	G	767	59	ZAK	4	4
CHRNA1	1134	broad.mit.edu	37	2	175618462	175618462	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175618462C>G	uc002ujd.2	-	c.622G>C	c.(622-624)GAC>CAC	p.D208H	CHRNA1_uc002uje.2_Missense_Mutation_p.D183H|CHRNA1_uc002ujf.3_Missense_Mutation_p.D183H	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	208	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)	3														0.491228	88.854904	88.858786	28	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175618462	175618462	3515	2	C	G	G	G	403	31	CHRNA1	3	3
HOXD3	3232	broad.mit.edu	37	2	177036370	177036370	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:177036370C>T	uc002ukt.1	+	c.667C>T	c.(667-669)CGC>TGC	p.R223C		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	223	Homeobox.				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|regulation of transcription, DNA-dependent|thyroid gland development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)										0.280303	93.251102	98.959676	37	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177036370	177036370	7615	2	C	T	T	T	351	27	HOXD3	1	1
TTN	7273	broad.mit.edu	37	2	179443955	179443955	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179443955G>C	uc010zfg.1	-	c.60098C>G	c.(60097-60099)TCA>TGA	p.S20033*	TTN_uc010zfh.1_Nonsense_Mutation_p.S13728*|TTN_uc010zfi.1_Nonsense_Mutation_p.S13661*|TTN_uc010zfj.1_Nonsense_Mutation_p.S13536*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	154										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				0.194444	102.412521	121.241326	42	174	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	179443955	179443955	17290	2	G	C	C	C	585	45	TTN	5	3
TTN	7273	broad.mit.edu	37	2	179454551	179454551	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179454551G>T	uc010zfg.1	-	c.54197C>A	c.(54196-54198)GCC>GAC	p.A18066D	TTN_uc010zfh.1_Missense_Mutation_p.A11761D|TTN_uc010zfi.1_Missense_Mutation_p.A11694D|TTN_uc010zfj.1_Missense_Mutation_p.A11569D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4319										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				0.323671	181.791108	187.539024	67	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179454551	179454551	17290	2	G	T	T	T	546	42	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179467201	179467201	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179467201C>T	uc010zfg.1	-	c.47224G>A	c.(47224-47226)GAA>AAA	p.E15742K	TTN_uc010zfh.1_Missense_Mutation_p.E9437K|TTN_uc010zfi.1_Missense_Mutation_p.E9370K|TTN_uc010zfj.1_Missense_Mutation_p.E9245K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:Variant_position_missing_in_Q4ZG20_after_alignment										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				0.110169	16.224745	33.935504	13	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179467201	179467201	17290	2	C	T	T	T	416	32	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179471967	179471967	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179471967G>T	uc010zfg.1	-	c.45658C>A	c.(45658-45660)CCA>ACA	p.P15220T	TTN_uc010zfh.1_Missense_Mutation_p.P8915T|TTN_uc010zfi.1_Missense_Mutation_p.P8848T|TTN_uc010zfj.1_Missense_Mutation_p.P8723T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3372										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				0.453488	451.548559	452.197843	156	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179471967	179471967	17290	2	G	T	T	T	533	41	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179472330	179472330	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179472330C>T	uc010zfg.1	-	c.45381G>A	c.(45379-45381)GTG>GTA	p.V15127V	TTN_uc010zfh.1_Silent_p.V8822V|TTN_uc010zfi.1_Silent_p.V8755V|TTN_uc010zfj.1_Silent_p.V8630V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3261										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				0.246704	327.20015	358.190203	131	400	KEEP	---	---	---	---	capture		Silent	SNP	179472330	179472330	17290	2	C	T	T	T	262	21	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179473550	179473550	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179473550A>G	uc010zfg.1	-	c.44484T>C	c.(44482-44484)GAT>GAC	p.D14828D	TTN_uc010zfh.1_Silent_p.D8523D|TTN_uc010zfi.1_Silent_p.D8456D|TTN_uc010zfj.1_Silent_p.D8331D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:Variant_position_missing_in_Q4ZG20_after_alignment										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				0.475219	455.564493	455.748152	163	180	KEEP	---	---	---	---	capture		Silent	SNP	179473550	179473550	17290	2	A	G	G	G	102	8	TTN	4	4
TTN	7273	broad.mit.edu	37	2	179500193	179500193	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179500193C>G	uc010zfg.1	-	c.34154G>C	c.(34153-34155)AGA>ACA	p.R11385T	TTN_uc010zfh.1_Missense_Mutation_p.R5080T|TTN_uc010zfi.1_Missense_Mutation_p.R5013T|TTN_uc010zfj.1_Missense_Mutation_p.R4888T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1644										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				0.114286	5.274048	10.407882	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179500193	179500193	17290	2	C	G	G	G	416	32	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179537183	179537183	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179537183T>A	uc010zfg.1	-	c.30978A>T	c.(30976-30978)CCA>CCT	p.P10326P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.P6987P|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	602										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				0.490835	797.270505	797.306159	241	250	KEEP	---	---	---	---	capture		Silent	SNP	179537183	179537183	17290	2	T	A	A	A	704	55	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179583275	179583275	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179583275G>A	uc010zfg.1	-	c.20826C>T	c.(20824-20826)AGC>AGT	p.S6942S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S3603S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3254										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				0.358696	87.052687	88.668391	33	59	KEEP	---	---	---	---	capture		Silent	SNP	179583275	179583275	17290	2	G	A	A	A	542	42	TTN	2	2
TTN	7273	broad.mit.edu	37	2	179590626	179590626	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179590626T>C	uc010zfg.1	-	c.16691A>G	c.(16690-16692)AAG>AGG	p.K5564R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K2225R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2579										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				0.3	82.491919	85.706991	27	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179590626	179590626	17290	2	T	C	C	C	728	56	TTN	4	4
TTN	7273	broad.mit.edu	37	2	179638834	179638834	+	Missense_Mutation	SNP	C	A	A	rs75031300	byFrequency;by1000genomes	TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179638834C>A	uc010zfg.1	-	c.7061G>T	c.(7060-7062)CGC>CTC	p.R2354L	TTN_uc010zfh.1_Missense_Mutation_p.R2308L|TTN_uc010zfi.1_Missense_Mutation_p.R2308L|TTN_uc010zfj.1_Missense_Mutation_p.R2308L|TTN_uc002unb.2_Missense_Mutation_p.R2354L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2354										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)						p.R2354H(RAJI-Tumor)|p.R2354H(NCIH1963-Tumor)|p.R2354H(NCIH510-Tumor)	8722				0.227437	159.803323	178.672437	63	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179638834	179638834	17290	2	C	A	A	A	351	27	TTN	1	1
TTN	7273	broad.mit.edu	37	2	179640518	179640519	+	Missense_Mutation	DNP	CA	TC	TC			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179640518_179640519CA>TC	uc010zfg.1	-	c.6072_6073TG>GA	c.(6070-6075)GATGAA>GAGAAA	p.2024_2025DE>EK	TTN_uc010zfh.1_Missense_Mutation_p.1978_1979DE>EK|TTN_uc010zfi.1_Missense_Mutation_p.1978_1979DE>EK|TTN_uc010zfj.1_Missense_Mutation_p.1978_1979DE>EK|TTN_uc002unb.2_Missense_Mutation_p.2024_2025DE>EK	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2024_2025										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				0.074074	-9.001633	51.327418	24	300	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	179640518	179640519	17290	2	CA	TC	TC	TC	377	29	TTN	2	2
SESTD1	91404	broad.mit.edu	37	2	180047903	180047903	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:180047903C>G	uc002uni.3	-	c.68G>C	c.(67-69)AGA>ACA	p.R23T		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	23	CRAL-TRIO.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)											0.247934	80.491952	87.485373	30	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180047903	180047903	14615	2	C	G	G	G	416	32	SESTD1	3	3
KCNS3	3790	broad.mit.edu	37	2	18112326	18112326	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:18112326C>A	uc002rcv.2	+	c.51C>A	c.(49-51)GTC>GTA	p.V17V	KCNS3_uc002rcw.2_Silent_p.V17V	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	17	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)													0.459716	286.495845	286.799285	97	114	KEEP	---	---	---	---	capture		Silent	SNP	18112326	18112326	8395	2	C	A	A	A	366	29	KCNS3	2	2
FRZB	2487	broad.mit.edu	37	2	183699583	183699583	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:183699583C>A	uc002upa.1	-	c.971G>T	c.(970-972)CGC>CTC	p.R324L		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	frizzled-related protein precursor	324					brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|regulation of gene-specific transcription from RNA polymerase II promoter|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)											0.081522	0.475519	33.380753	15	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183699583	183699583	6315	2	C	A	A	A	351	27	FRZB	1	1
ZNF804A	91752	broad.mit.edu	37	2	185802931	185802931	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185802931C>A	uc002uph.2	+	c.2808C>A	c.(2806-2808)CAC>CAA	p.H936Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	936						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.466667	462.59046	462.895665	147	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185802931	185802931	18768	2	C	A	A	A	220	17	ZNF804A	2	2
ZNF804A	91752	broad.mit.edu	37	2	185802946	185802946	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185802946G>T	uc002uph.2	+	c.2823G>T	c.(2821-2823)GAG>GAT	p.E941D		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	941						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.478261	390.281236	390.394438	132	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185802946	185802946	18768	2	G	T	T	T	425	33	ZNF804A	2	2
ZNF804A	91752	broad.mit.edu	37	2	185803677	185803678	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185803677_185803678CA>AT	uc002uph.2	+	c.3554_3555CA>AT	c.(3553-3555)CCA>CAT	p.P1185H		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1185						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.347921	446.777483	456.110484	159	298	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	185803677	185803678	18768	2	CA	AT	AT	AT	273	21	ZNF804A	2	2
ITGAV	3685	broad.mit.edu	37	2	187455108	187455108	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:187455108G>T	uc002upq.2	+	c.43G>T	c.(43-45)GGC>TGC	p.G15C	ITGAV_uc010frs.2_Missense_Mutation_p.G15C	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	15					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		Melanoma(58;108 1995 6081)			p.G15C(SNU407-Tumor)	606				0.514706	103.015955	103.025886	35	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187455108	187455108	8192	2	G	T	T	T	507	39	ITGAV	1	1
CALCRL	10203	broad.mit.edu	37	2	188211006	188211006	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:188211006C>A	uc002upv.3	-	c.1291G>T	c.(1291-1293)GGT>TGT	p.G431C	CALCRL_uc010frt.2_Missense_Mutation_p.G431C	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	431	Cytoplasmic (Potential).					integral to plasma membrane				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)											0.189474	38.48937	47.062492	18	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	188211006	188211006	2696	2	C	A	A	A	312	24	CALCRL	2	2
COL3A1	1281	broad.mit.edu	37	2	189856420	189856422	+	Missense	Complex_substitution	GNG	TNT	TNT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189856420G>T	uc002uqj.1	+	c.923G>T	c.(922-924)CGA>CTA	p.R308L	COL3A1_uc010frw.1_Non-coding_Transcript	NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	308	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				0.46988	240.160048	240.296122	78	88	KEEP	---	---	---	---	capture		Missense	Complex_substitution	189856420	189856422	3826	2	GNG	TNT	TNT	T	481	37	COL3A1	5	5
COL3A1	1281	broad.mit.edu	37	2	189866155	189866155	+	Silent	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189866155A>C	uc002uqj.1	+	c.2316A>C	c.(2314-2316)CCA>CCC	p.P772P		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	772	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)				p.P772P(CI1-Tumor)	1079				0.18705	48.399434	61.280424	26	113	KEEP	---	---	---	---	capture		Silent	SNP	189866155	189866155	3826	2	A	C	C	C	80	7	COL3A1	4	4
COL3A1	1281	broad.mit.edu	37	2	189868724	189868724	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189868724C>A	uc002uqj.1	+	c.2678C>A	c.(2677-2679)CCA>CAA	p.P893Q		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	893	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				0.378378	42.841846	43.321804	14	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189868724	189868724	3826	2	C	A	A	A	273	21	COL3A1	2	2
COL5A2	1290	broad.mit.edu	37	2	189914108	189914108	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189914108C>A	uc002uqk.2	-	c.3112G>T	c.(3112-3114)GGC>TGC	p.G1038C	COL5A2_uc010frx.2_Missense_Mutation_p.G614C	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1038					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)											0.463415	60.221893	60.269613	19	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189914108	189914108	3835	2	C	A	A	A	312	24	COL5A2	2	2
COL5A2	1290	broad.mit.edu	37	2	189931133	189931133	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										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)											0.450276	497.739294	498.523762	163	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189931133	189931133	3835	2	C	A	A	A	312	24	COL5A2	2	2
WDR75	84128	broad.mit.edu	37	2	190340070	190340070	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:190340070A>G	uc002uql.1	+	c.2420A>G	c.(2419-2421)CAG>CGG	p.Q807R	WDR75_uc002uqm.1_Missense_Mutation_p.Q743R|WDR75_uc002uqn.1_Missense_Mutation_p.Q585R|WDR75_uc002uqo.1_Missense_Mutation_p.Q585R	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	807						nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)											0.415385	165.820548	166.63442	54	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190340070	190340070	17898	2	A	G	G	G	91	7	WDR75	4	4
SLC40A1	30061	broad.mit.edu	37	2	190439990	190439990	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:190439990G>A	uc002uqp.3	-	c.168C>T	c.(166-168)AAC>AAT	p.N56N	SLC40A1_uc002uqq.2_Silent_p.N56N	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	56					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)											0.381333	394.744212	399.369134	143	232	KEEP	---	---	---	---	capture		Silent	SNP	190439990	190439990	15125	2	G	A	A	A	620	48	SLC40A1	2	2
OSGEPL1	64172	broad.mit.edu	37	2	190619989	190619989	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:190619989A>T	uc002uqz.1	-	c.519T>A	c.(517-519)GGT>GGA	p.G173G	OSGEPL1_uc002ura.1_Non-coding_Transcript|OSGEPL1_uc010zfy.1_Silent_p.G173G	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	173					proteolysis|tRNA processing		metalloendopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)											0.090909	2.628481	28.666351	14	140	KEEP	---	---	---	---	capture		Silent	SNP	190619989	190619989	11699	2	A	T	T	T	119	10	OSGEPL1	3	3
HIBCH	26275	broad.mit.edu	37	2	191155147	191155147	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:191155147C>A	uc002uru.2	-	c.369G>T	c.(367-369)ATG>ATT	p.M123I	HIBCH_uc002urv.2_Missense_Mutation_p.M123I	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-Coenzyme A hydrolase isoform	123					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)											0.134328	14.326572	23.016503	9	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	191155147	191155147	7385	2	C	A	A	A	325	25	HIBCH	2	2
MYO1B	4430	broad.mit.edu	37	2	192273773	192273773	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:192273773C>T	uc010fsg.2	+	c.2635C>T	c.(2635-2637)CAA>TAA	p.Q879*	MYO1B_uc002usq.2_Nonsense_Mutation_p.Q821*|MYO1B_uc002usr.2_Nonsense_Mutation_p.Q879*|MYO1B_uc002usu.2_Nonsense_Mutation_p.Q124*|MYO1B_uc002usv.2_5'UTR	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	879						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)											0.171171	34.953267	46.304941	19	92	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	192273773	192273773	10464	2	C	T	T	T	325	25	MYO1B	5	2
MYT1L	23040	broad.mit.edu	37	2	1946754	1946754	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1946754C>A	uc002qxe.2	-	c.505G>T	c.(505-507)GAA>TAA	p.E169*	MYT1L_uc002qxd.2_Nonsense_Mutation_p.E169*	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	169	Asp/Glu-rich.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)										0.52381	34.930473	34.941333	11	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	1946754	1946754	10502	2	C	A	A	A	299	23	MYT1L	5	1
DNAH7	56171	broad.mit.edu	37	2	196699047	196699047	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196699047T>G	uc002utj.3	-	c.8983A>C	c.(8983-8985)AGT>CGT	p.S2995R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2995	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.324786	100.96715	104.17795	38	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196699047	196699047	4789	2	T	G	G	G	728	56	DNAH7	4	4
DNAH7	56171	broad.mit.edu	37	2	196729269	196729269	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196729269C>A	uc002utj.3	-	c.7110G>T	c.(7108-7110)GGG>GGT	p.G2370G		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2370	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.490741	320.640704	320.656565	106	110	KEEP	---	---	---	---	capture		Silent	SNP	196729269	196729269	4789	2	C	A	A	A	223	18	DNAH7	2	2
DNAH7	56171	broad.mit.edu	37	2	196791236	196791236	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:196791236T>A	uc002utj.3	-	c.3526A>T	c.(3526-3528)AGG>TGG	p.R1176W		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1176	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(2)	2														0.292517	114.478802	120.138321	43	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	196791236	196791236	4789	2	T	A	A	A	726	56	DNAH7	3	3
HECW2	57520	broad.mit.edu	37	2	197297907	197297907	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:197297907C>T	uc002utm.1	-	c.241G>A	c.(241-243)GAC>AAC	p.D81N		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin	81					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			ovary(5)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	9														0.396	291.068869	293.43566	99	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	197297907	197297907	7326	2	C	T	T	T	390	30	HECW2	2	2
MARS2	92935	broad.mit.edu	37	2	198570940	198570940	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198570940G>T	uc002uuq.2	+	c.811G>T	c.(811-813)GAT>TAT	p.D271Y		NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	271					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)	2					L-Methionine(DB00134)									0.462963	71.364001	71.428977	25	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198570940	198570940	9700	2	G	T	T	T	533	41	MARS2	2	2
BOLL	66037	broad.mit.edu	37	2	198636675	198636675	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198636675C>A	uc002uuu.1	-	c.402G>T	c.(400-402)ATG>ATT	p.M134I	BOLL_uc002uur.2_Missense_Mutation_p.M134I|BOLL_uc002uus.2_Missense_Mutation_p.M128I|BOLL_uc002uut.2_Missense_Mutation_p.M140I|BOLL_uc010zha.1_Missense_Mutation_p.M19I	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	boule isoform 2	128					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2														0.115789	13.655113	27.463806	11	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198636675	198636675	1514	2	C	A	A	A	221	17	BOLL	2	2
PLCL1	5334	broad.mit.edu	37	2	198949322	198949322	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198949322G>A	uc010fsp.2	+	c.1081G>A	c.(1081-1083)GAA>AAA	p.E361K	PLCL1_uc002uuv.3_Missense_Mutation_p.E282K	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	361					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1					Quinacrine(DB01103)									0.506494	484.475868	484.486976	156	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198949322	198949322	12465	2	G	A	A	A	481	37	PLCL1	1	1
PLCL1	5334	broad.mit.edu	37	2	198949433	198949433	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198949433C>A	uc010fsp.2	+	c.1192C>A	c.(1192-1194)CAA>AAA	p.Q398K	PLCL1_uc002uuv.3_Missense_Mutation_p.Q319K	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	398	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1					Quinacrine(DB01103)									0.389423	237.392974	239.596677	81	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198949433	198949433	12465	2	C	A	A	A	273	21	PLCL1	2	2
PLCL1	5334	broad.mit.edu	37	2	198949519	198949519	+	Silent	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198949519T>G	uc010fsp.2	+	c.1278T>G	c.(1276-1278)GCT>GCG	p.A426A	PLCL1_uc002uuv.3_Silent_p.A347A	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	426	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1					Quinacrine(DB01103)									0.082902	1.849421	35.993896	16	177	KEEP	---	---	---	---	capture		Silent	SNP	198949519	198949519	12465	2	T	G	G	G	704	55	PLCL1	4	4
PLCL1	5334	broad.mit.edu	37	2	198950124	198950124	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198950124C>A	uc010fsp.2	+	c.1883C>A	c.(1882-1884)CCA>CAA	p.P628Q	PLCL1_uc002uuv.3_Missense_Mutation_p.P549Q	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	628	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1					Quinacrine(DB01103)									0.381818	120.834914	122.177817	42	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	198950124	198950124	12465	2	C	A	A	A	273	21	PLCL1	2	2
PLCL1	5334	broad.mit.edu	37	2	198950365	198950365	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:198950365C>T	uc010fsp.2	+	c.2124C>T	c.(2122-2124)AGC>AGT	p.S708S	PLCL1_uc002uuv.3_Silent_p.S629S	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	708	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1					Quinacrine(DB01103)									0.08805	5.700216	60.238982	28	290	KEEP	---	---	---	---	capture		Silent	SNP	198950365	198950365	12465	2	C	T	T	T	350	27	PLCL1	1	1
SATB2	23314	broad.mit.edu	37	2	200137063	200137063	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:200137063G>T	uc002uuy.1	-	c.2073C>A	c.(2071-2073)GAC>GAA	p.D691E	SATB2_uc010fsq.1_Missense_Mutation_p.D573E|SATB2_uc002uuz.1_Missense_Mutation_p.D691E|SATB2_uc002uva.1_Missense_Mutation_p.D691E	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	691						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						Colon(30;262 767 11040 24421 36230)								0.463235	409.465186	409.779506	126	146	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	200137063	200137063	14335	2	G	T	T	T	516	40	SATB2	1	1
SATB2	23314	broad.mit.edu	37	2	200188558	200188559	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:200188558_200188559GG>TT	uc002uuy.1	-	c.1509_1510CC>AA	c.(1507-1512)GCCCTG>GCAATG	p.L504M	SATB2_uc010fsq.1_Missense_Mutation_p.L386M|SATB2_uc002uuz.1_Missense_Mutation_p.L504M|SATB2_uc002uva.1_Missense_Mutation_p.L504M	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	504	CUT 2.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						Colon(30;262 767 11040 24421 36230)								0.120603	30.590153	58.651526	24	175	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	200188558	200188559	14335	2	GG	TT	TT	TT	451	35	SATB2	2	2
AOX1	316	broad.mit.edu	37	2	201534460	201534460	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201534460A>G	uc002uvx.2	+	c.3961A>G	c.(3961-3963)AAA>GAA	p.K1321E	AOX1_uc010zhf.1_Missense_Mutation_p.K877E|AOX1_uc010fsu.2_Missense_Mutation_p.K687E	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	1321					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)									0.102273	29.428908	71.052059	27	237	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201534460	201534460	739	2	A	G	G	G	13	1	AOX1	4	4
WDR35	57539	broad.mit.edu	37	2	20173448	20173448	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:20173448C>A	uc002rdi.2	-	c.758G>T	c.(757-759)GGC>GTC	p.G253V	WDR35_uc002rdj.2_Missense_Mutation_p.G253V|WDR35_uc010ext.2_Non-coding_Transcript|WDR35_uc002rdh.2_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	253										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.396825	71.663003	72.249322	25	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20173448	20173448	17862	2	C	A	A	A	338	26	WDR35	2	2
ORC2L	4999	broad.mit.edu	37	2	201800520	201800520	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:201800520C>A	uc002uwr.2	-	c.610G>T	c.(610-612)GCA>TCA	p.A204S	ORC2L_uc010zhj.1_Missense_Mutation_p.A204S	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	204					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0														0.357542	177.703579	180.921855	64	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	201800520	201800520	11673	2	C	A	A	A	325	25	ORC2L	2	2
MPP4	58538	broad.mit.edu	37	2	202545734	202545734	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202545734C>A	uc002uyk.3	-	c.756G>T	c.(754-756)GAG>GAT	p.E252D	MPP4_uc010ftj.2_Missense_Mutation_p.E252D|MPP4_uc010zhq.1_Missense_Mutation_p.E252D|MPP4_uc010zhr.1_Missense_Mutation_p.E252D|MPP4_uc010zhs.1_Missense_Mutation_p.E208D|MPP4_uc002uyj.3_Missense_Mutation_p.E208D|MPP4_uc010zht.1_Missense_Mutation_p.E225D|MPP4_uc002uyl.3_Non-coding_Transcript|MPP4_uc010ftk.2_Intron|MPP4_uc002uym.1_Missense_Mutation_p.E221D|MPP4_uc002uyn.2_Missense_Mutation_p.E208D	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	252	SH3.					cytoplasm	protein binding				0												OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.301587	52.94597	55.135634	19	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	202545734	202545734	10128	2	C	A	A	A	259	20	MPP4	2	2
MPP4	58538	broad.mit.edu	37	2	202547586	202547586	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:202547586C>A	uc002uyk.3	-	c.628G>T	c.(628-630)GGA>TGA	p.G210*	MPP4_uc010ftj.2_Nonsense_Mutation_p.G210*|MPP4_uc010zhq.1_Nonsense_Mutation_p.G210*|MPP4_uc010zhr.1_Nonsense_Mutation_p.G210*|MPP4_uc010zhs.1_Nonsense_Mutation_p.G166*|MPP4_uc002uyj.3_Nonsense_Mutation_p.G166*|MPP4_uc010zht.1_Nonsense_Mutation_p.G183*|MPP4_uc002uyl.3_Non-coding_Transcript|MPP4_uc010ftk.2_Nonsense_Mutation_p.G210*|MPP4_uc002uym.1_Nonsense_Mutation_p.G179*|MPP4_uc002uyn.2_Nonsense_Mutation_p.G166*	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	210	PDZ.					cytoplasm	protein binding				0														0.365714	183.845419	186.623721	64	111	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	202547586	202547586	10128	2	C	A	A	A	286	22	MPP4	5	2
BMPR2	659	broad.mit.edu	37	2	203329572	203329572	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:203329572G>T	uc002uzf.3	+	c.117G>T	c.(115-117)CCG>CCT	p.P39P	BMPR2_uc010ftr.2_Silent_p.P39P|BMPR2_uc002uze.2_Silent_p.P39P	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor type II	39	Extracellular (Potential).				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			ovary(4)|large_intestine(1)|stomach(1)|pancreas(1)	7										409				0.049296	-14.481766	16.131873	7	135	KEEP	---	---	---	---	capture		Silent	SNP	203329572	203329572	1496	2	G	T	T	T	509	40	BMPR2	1	1
ICOS	29851	broad.mit.edu	37	2	204801541	204801541	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:204801541A>T	uc002vam.2	+	c.4A>T	c.(4-6)AAG>TAG	p.K2*	ICOS_uc010zip.1_Nonsense_Mutation_p.K2*|ICOS_uc010fua.2_Nonsense_Mutation_p.K2*	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator precursor	2					immune response|T cell costimulation	extracellular region					0														0.078788	-2.650061	27.253487	13	152	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	204801541	204801541	7786	2	A	T	T	T	117	9	ICOS	5	3
PARD3B	117583	broad.mit.edu	37	2	206166423	206166423	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206166423G>A	uc002var.1	+	c.2628G>A	c.(2626-2628)CTG>CTA	p.L876L	PARD3B_uc010fub.1_Silent_p.L876L|PARD3B_uc002vao.1_Silent_p.L876L|PARD3B_uc002vap.1_Silent_p.L814L|PARD3B_uc002vaq.1_Silent_p.L807L	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	876	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				ovary(1)|breast(1)	2		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)										0.243056	81.845324	90.519126	35	109	KEEP	---	---	---	---	capture		Silent	SNP	206166423	206166423	11861	2	G	A	A	A	574	45	PARD3B	2	2
NRP2	8828	broad.mit.edu	37	2	206659528	206659529	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206659528_206659529GG>TT	uc002vaw.2	+	c.2542_2543GG>TT	c.(2542-2544)GGC>TTC	p.G848F	NRP2_uc002vax.2_Missense_Mutation_p.G843F|NRP2_uc002vay.2_Missense_Mutation_p.G826F	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	848	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			ovary(1)|central_nervous_system(1)	2														0.230769	118.500289	132.311818	48	160	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	206659528	206659529	11066	2	GG	TT	TT	TT	611	47	NRP2	2	2
ZDBF2	57683	broad.mit.edu	37	2	207170388	207170388	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207170388A>T	uc002vbp.2	+	c.1136A>T	c.(1135-1137)CAA>CTA	p.Q379L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	379							nucleic acid binding|zinc ion binding			ovary(3)	3														0.169811	34.381233	45.320982	18	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207170388	207170388	18187	2	A	T	T	T	65	5	ZDBF2	3	3
ZDBF2	57683	broad.mit.edu	37	2	207172478	207172478	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207172478G>T	uc002vbp.2	+	c.3226G>T	c.(3226-3228)GGT>TGT	p.G1076C		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1076							nucleic acid binding|zinc ion binding			ovary(3)	3														0.344444	87.395598	89.319977	31	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207172478	207172478	18187	2	G	T	T	T	455	35	ZDBF2	2	2
ZDBF2	57683	broad.mit.edu	37	2	207174982	207174982	+	Silent	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207174982A>C	uc002vbp.2	+	c.5730A>C	c.(5728-5730)TCA>TCC	p.S1910S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1910							nucleic acid binding|zinc ion binding			ovary(3)	3														0.214612	102.337384	118.79132	47	172	KEEP	---	---	---	---	capture		Silent	SNP	207174982	207174982	18187	2	A	C	C	C	80	7	ZDBF2	4	4
PIKFYVE	200576	broad.mit.edu	37	2	209191144	209191144	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:209191144G>T	uc002vcz.2	+	c.3609G>T	c.(3607-3609)TGG>TGT	p.W1203C	PIKFYVE_uc010fun.1_Missense_Mutation_p.W884C|PIKFYVE_uc002vcy.1_Missense_Mutation_p.W1147C	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1203					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding|zinc ion binding			ovary(5)|kidney(2)|central_nervous_system(1)|pancreas(1)	9										756				0.17931	55.682441	69.696365	26	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	209191144	209191144	12348	2	G	T	T	T	572	44	PIKFYVE	2	2
CPS1	1373	broad.mit.edu	37	2	211465309	211465309	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211465309A>C	uc010fur.2	+	c.1598A>C	c.(1597-1599)AAG>ACG	p.K533T	CPS1_uc002vee.3_Missense_Mutation_p.K527T|CPS1_uc010fus.2_Missense_Mutation_p.K76T	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	527					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)										0.068807	-11.032925	30.877545	15	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	211465309	211465309	3961	2	A	C	C	C	39	3	CPS1	4	4
CPS1	1373	broad.mit.edu	37	2	211527882	211527882	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:211527882T>A	uc010fur.2	+	c.3981T>A	c.(3979-3981)GCT>GCA	p.A1327A	CPS1_uc002vee.3_Silent_p.A1321A|CPS1_uc010fus.2_Silent_p.A870A	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform a	1321					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)										0.068345	-9.901635	43.675778	19	259	KEEP	---	---	---	---	capture		Silent	SNP	211527882	211527882	3961	2	T	A	A	A	704	55	CPS1	3	3
APOB	338	broad.mit.edu	37	2	21226177	21226177	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21226177G>T	uc002red.2	-	c.12117C>A	c.(12115-12117)TTC>TTA	p.F4039L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4039					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.368254	328.905773	333.71639	116	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21226177	21226177	796	2	G	T	T	T	581	45	APOB	2	2
ABCA12	26154	broad.mit.edu	37	2	215819926	215819926	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:215819926C>A	uc002vew.2	-	c.6393G>T	c.(6391-6393)CCG>CCT	p.P2131P	ABCA12_uc002vev.2_Silent_p.P1813P|ABCA12_uc010zjn.1_Silent_p.P1058P	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2131					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|breast(1)|central_nervous_system(1)|pancreas(1)	9		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		Ovarian(66;664 1488 5121 34295)								0.40625	122.00781	122.744844	39	57	KEEP	---	---	---	---	capture		Silent	SNP	215819926	215819926	31	2	C	A	A	A	288	23	ABCA12	1	1
MREG	55686	broad.mit.edu	37	2	216809647	216809647	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:216809647C>A	uc002vfo.2	-	c.584G>T	c.(583-585)GGG>GTG	p.G195V	MREG_uc002vfq.2_Non-coding_Transcript	NM_018000	NP_060470	Q8N565	MREG_HUMAN	whn-dependent transcript 2	195						apical plasma membrane					0		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)										0.503937	192.28847	192.290089	64	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216809647	216809647	10152	2	C	A	A	A	286	22	MREG	2	2
TMEM169	92691	broad.mit.edu	37	2	216964965	216964965	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:216964965G>T	uc010zjr.1	+	c.594G>T	c.(592-594)AGG>AGT	p.R198S	TMEM169_uc010zjs.1_Missense_Mutation_p.R198S|TMEM169_uc002vfw.2_Missense_Mutation_p.R198S|TMEM169_uc002vfv.3_Missense_Mutation_p.R198S	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN	transmembrane protein 169	198	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.095613	22.154912	168.032294	85	804	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	216964965	216964965	16618	2	G	T	T	T	529	41	TMEM169	2	2
TNS1	7145	broad.mit.edu	37	2	218677108	218677108	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:218677108A>C	uc002vgt.2	-	c.4703T>G	c.(4702-4704)CTG>CGG	p.L1568R	TNS1_uc002vgr.2_Missense_Mutation_p.L1554R|TNS1_uc002vgs.2_Missense_Mutation_p.L1547R|TNS1_uc002vgq.2_Missense_Mutation_p.L68R	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1568	SH2.					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)										0.376923	147.140535	148.869594	49	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	218677108	218677108	16884	2	A	C	C	C	91	7	TNS1	4	4
TNS1	7145	broad.mit.edu	37	2	218712332	218712332	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:218712332G>C	uc002vgt.2	-	c.2533C>G	c.(2533-2535)CAG>GAG	p.Q845E	TNS1_uc002vgr.2_Missense_Mutation_p.Q845E|TNS1_uc002vgs.2_Missense_Mutation_p.Q845E|TNS1_uc010zjv.1_Missense_Mutation_p.Q845E|TNS1_uc010fvj.1_Missense_Mutation_p.Q913E|TNS1_uc010fvk.1_Missense_Mutation_p.Q970E|TNS1_uc010fvi.1_Missense_Mutation_p.Q532E	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	845						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)										0.088083	13.071968	46.136089	17	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	218712332	218712332	16884	2	G	C	C	C	585	45	TNS1	3	3
C2orf62	375307	broad.mit.edu	37	2	219222789	219222789	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219222789G>T	uc002vhr.2	+	c.349G>T	c.(349-351)GAA>TAA	p.E117*	C2orf62_uc002vhs.2_Non-coding_Transcript	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	117											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.153846	12.701301	18.631501	8	44	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	219222789	219222789	2269	2	G	T	T	T	533	41	C2orf62	5	2
C2orf62	375307	broad.mit.edu	37	2	219232596	219232596	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219232596G>A	uc002vhr.2	+	c.1073G>A	c.(1072-1074)CGT>CAT	p.R358H	C2orf62_uc002vhs.2_Non-coding_Transcript	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	hypothetical protein LOC375307	358											0		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.434783	26.610406	26.701135	10	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219232596	219232596	2269	2	G	A	A	A	520	40	C2orf62	1	1
USP37	57695	broad.mit.edu	37	2	219320359	219320359	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219320359C>A	uc010fvs.1	-	c.2796G>T	c.(2794-2796)GAG>GAT	p.E932D	USP37_uc002vie.2_Missense_Mutation_p.E932D|USP37_uc010zkf.1_Missense_Mutation_p.E932D|USP37_uc002vif.2_Missense_Mutation_p.E932D|USP37_uc002vig.2_Missense_Mutation_p.E838D	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	932					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|skin(1)	2		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)										0.47619	122.492376	122.533982	40	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219320359	219320359	17632	2	C	A	A	A	311	24	USP37	2	2
WNT10A	80326	broad.mit.edu	37	2	219747107	219747107	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219747107G>T	uc002vjd.1	+	c.338G>T	c.(337-339)CGC>CTC	p.R113L		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	113					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|negative regulation of gene-specific transcription from RNA polymerase II promoter|odontogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity				0		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.245283	99.760927	109.146582	39	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219747107	219747107	17956	2	G	T	T	T	494	38	WNT10A	1	1
CCDC108	255101	broad.mit.edu	37	2	219888941	219888941	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219888941G>T	uc002vjl.1	-	c.2391C>A	c.(2389-2391)AGC>AGA	p.S797R		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	797						integral to membrane	structural molecule activity			ovary(2)|pancreas(1)	3		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.2	17.112817	20.434917	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219888941	219888941	2863	2	G	T	T	T	542	42	CCDC108	2	2
ABCB6	10058	broad.mit.edu	37	2	220077171	220077171	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220077171G>C	uc002vkc.1	-	c.1906C>G	c.(1906-1908)CTG>GTG	p.L636V	ABCB6_uc010fwe.1_Missense_Mutation_p.L590V	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B, member 6	636	ABC transporter.				cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|cadmium ion transmembrane transporter activity|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.214286	44.105137	50.436363	18	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220077171	220077171	46	2	G	C	C	C	438	34	ABCB6	3	3
ATG9A	79065	broad.mit.edu	37	2	220085570	220085570	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220085570G>C	uc002vke.1	-	c.2413C>G	c.(2413-2415)CCT>GCT	p.P805A	ABCB6_uc002vkc.1_5'Flank|ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.P805A	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	805	Cytoplasmic (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.3	26.86964	27.938097	9	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220085570	220085570	1121	2	G	C	C	C	546	42	ATG9A	3	3
PTPRN	5798	broad.mit.edu	37	2	220161477	220161477	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220161477G>T	uc002vkz.2	-	c.2304C>A	c.(2302-2304)AGC>AGA	p.S768R	PTPRN_uc010zlc.1_Missense_Mutation_p.S678R|PTPRN_uc002vla.2_Missense_Mutation_p.S739R|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	768	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)	3		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)										0.117021	10.10295	23.632184	11	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220161477	220161477	13264	2	G	T	T	T	542	42	PTPRN	2	2
SPEG	10290	broad.mit.edu	37	2	220309869	220309869	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220309869G>T	uc010fwg.2	+	c.801G>T	c.(799-801)GCG>GCT	p.A267A	SPEG_uc002vlm.2_Non-coding_Transcript|SPEG_uc010fwh.1_Intron|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	267					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				0.266667	8.698425	9.433117	4	11	KEEP	---	---	---	---	capture		Silent	SNP	220309869	220309869	15548	2	G	T	T	T	483	38	SPEG	1	1
SPEG	10290	broad.mit.edu	37	2	220326769	220326769	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220326769C>A	uc010fwg.2	+	c.2606C>A	c.(2605-2607)CCC>CAC	p.P869H	SPEG_uc002vlm.2_Non-coding_Transcript|SPEG_uc010fwh.1_Missense_Mutation_p.P77H|SPEG_uc002vln.1_Missense_Mutation_p.P77H|SPEG_uc002vlp.1_Missense_Mutation_p.P77H|SPEG_uc002vlq.2_Missense_Mutation_p.P20H	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	869	Ig-like 3.				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				0.382353	32.227665	32.65262	13	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220326769	220326769	15548	2	C	A	A	A	286	22	SPEG	2	2
SPEG	10290	broad.mit.edu	37	2	220348024	220348024	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220348024C>G	uc010fwg.2	+	c.5839C>G	c.(5839-5841)CGG>GGG	p.R1947G		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1947					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				0.5	30.250998	30.250998	10	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220348024	220348024	15548	2	C	G	G	G	295	23	SPEG	3	3
INHA	3623	broad.mit.edu	37	2	220439498	220439498	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220439498A>G	uc002vmk.1	+	c.351A>G	c.(349-351)CCA>CCG	p.P117P		NM_002191	NP_002182	P05111	INHA_HUMAN	inhibin alpha subunit precursor	117					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)										0.5	105.537181	105.537181	41	41	KEEP	---	---	---	---	capture		Silent	SNP	220439498	220439498	8041	2	A	G	G	G	93	8	INHA	4	4
STK11IP	114790	broad.mit.edu	37	2	220473360	220473360	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220473360G>C	uc002vml.2	+	c.1692G>C	c.(1690-1692)CGG>CGC	p.R564R	STK11IP_uc010zll.1_Silent_p.R521R|STK11IP_uc002vmm.1_Silent_p.R553R	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	LKB1 interacting protein	564	Glu-rich.				protein localization	cytoplasm	protein kinase binding			ovary(1)	1		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.4	22.293401	22.468957	8	12	KEEP	---	---	---	---	capture		Silent	SNP	220473360	220473360	15808	2	G	C	C	C	548	43	STK11IP	3	3
SLC4A3	6508	broad.mit.edu	37	2	220505152	220505152	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220505152G>T	uc002vmo.3	+	c.3359G>T	c.(3358-3360)GGC>GTC	p.G1120V	SLC4A3_uc002vmp.3_Missense_Mutation_p.G1093V|SLC4A3_uc010fwm.2_Missense_Mutation_p.G643V	NM_201574	NP_963868	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	1093	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)										0.213592	45.102347	52.905196	22	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220505152	220505152	15152	2	G	T	T	T	546	42	SLC4A3	2	2
EPHA4	2043	broad.mit.edu	37	2	222307584	222307584	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:222307584G>T	uc002vmq.2	-	c.2039C>A	c.(2038-2040)CCG>CAG	p.P680Q	EPHA4_uc002vmr.2_Missense_Mutation_p.P680Q|EPHA4_uc010zlm.1_Missense_Mutation_p.P621Q|EPHA4_uc010zln.1_Missense_Mutation_p.P680Q	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	680	Protein kinase.|Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			lung(3)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	9		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)					p.P680L(D341MED-Tumor)	395				0.251337	121.973397	132.459542	47	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	222307584	222307584	5362	2	G	T	T	T	507	39	EPHA4	1	1
PAX3	5077	broad.mit.edu	37	2	223084955	223084955	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:223084955G>T	uc002vmt.1	-	c.1077C>A	c.(1075-1077)ACC>ACA	p.T359T	PAX3_uc002vmy.1_Silent_p.T358T|PAX3_uc002vmv.1_Silent_p.T359T|PAX3_uc002vmw.1_Silent_p.T359T|PAX3_uc002vmx.1_Silent_p.T359T|PAX3_uc010fwo.2_Silent_p.T359T	NM_181459	NP_852124	P23760	PAX3_HUMAN	paired box 3 isoform PAX3e	359					apoptosis|organ morphogenesis|positive regulation of gene-specific transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)	765		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)						141				0.253731	84.067248	91.461673	34	100	KEEP	---	---	---	---	capture		Silent	SNP	223084955	223084955	11900	2	G	T	T	T	600	47	PAX3	2	2
DOCK10	55619	broad.mit.edu	37	2	225638017	225638018	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225638017_225638018GG>TT	uc010fwz.1	-	c.6060_6061CC>AA	c.(6058-6063)AGCCAA>AGAAAA	p.2020_2021SQ>RK	DOCK10_uc002vob.2_Missense_Mutation_p.2014_2015SQ>RK|DOCK10_uc002voa.2_Missense_Mutation_p.676_677SQ>RK	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2020_2021	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)										0.340659	184.384707	188.473472	62	120	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	225638017	225638018	4869	2	GG	TT	TT	TT	611	47	DOCK10	2	2
KIAA1486	57624	broad.mit.edu	37	2	226447029	226447029	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:226447029C>A	uc002voe.2	+	c.896C>A	c.(895-897)CCC>CAC	p.P299H	KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.P69H	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	299										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)										0.33871	173.435551	177.682043	63	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226447029	226447029	8546	2	C	A	A	A	286	22	KIAA1486	2	2
SLC19A3	80704	broad.mit.edu	37	2	228564016	228564016	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228564016C>T	uc002vpi.2	-	c.415G>A	c.(415-417)GTG>ATG	p.V139M	SLC19A3_uc002vpj.2_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.V135M	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	solute carrier family 19, member 3	139	Cytoplasmic (Potential).				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)									0.307692	64.513637	67.06208	24	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228564016	228564016	14926	2	C	T	T	T	260	20	SLC19A3	2	2
CCL20	6364	broad.mit.edu	37	2	228681090	228681090	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228681090C>T	uc002vpl.2	+	c.259C>T	c.(259-261)CGT>TGT	p.R87C	CCL20_uc002vpm.2_Missense_Mutation_p.R86C	NM_004591	NP_004582	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20 isoform 1	87					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity				0		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)										0.243243	67.631159	74.260626	27	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228681090	228681090	3017	2	C	T	T	T	351	27	CCL20	1	1
SPHKAP	80309	broad.mit.edu	37	2	228855715	228855716	+	Splice_Site_DNP	DNP	CC	AA	AA			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228855715_228855716CC>AA	uc002vpq.2	-	c.4959_splice	c.e11+1	p.K1653_splice	SPHKAP_uc002vpp.2_Splice_Site_DNP_p.K1624_splice|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116			sphingosine kinase type 1-interacting protein							cytoplasm	protein binding			ovary(4)|lung(1)	5		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)										0.216667	64.386912	73.270519	26	94	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	228855715	228855716	15560	2	CC	AA	AA	AA	234	18	SPHKAP	5	2
SPHKAP	80309	broad.mit.edu	37	2	228881944	228881944	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228881944C>A	uc002vpq.2	-	c.3626G>T	c.(3625-3627)AGT>ATT	p.S1209I	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1209I|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1209I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1209						cytoplasm	protein binding			ovary(4)|lung(1)	5		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)										0.336134	108.463328	111.290182	40	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228881944	228881944	15560	2	C	A	A	A	260	20	SPHKAP	2	2
SPHKAP	80309	broad.mit.edu	37	2	228882762	228882762	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228882762C>A	uc002vpq.2	-	c.2808G>T	c.(2806-2808)ACG>ACT	p.T936T	SPHKAP_uc002vpp.2_Silent_p.T936T|SPHKAP_uc010zlx.1_Silent_p.T936T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	936	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding			ovary(4)|lung(1)	5		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)										0.402299	213.818834	215.269966	70	104	KEEP	---	---	---	---	capture		Silent	SNP	228882762	228882762	15560	2	C	A	A	A	288	23	SPHKAP	1	1
TRIP12	9320	broad.mit.edu	37	2	230693988	230693988	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230693988C>T	uc002vpx.1	-	c.1371G>A	c.(1369-1371)AGG>AGA	p.R457R	TRIP12_uc002vpw.1_Silent_p.R409R|TRIP12_uc002vpy.1_Silent_p.R112R|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Silent_p.R415R	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	409					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)										0.107527	7.577759	21.815864	10	83	KEEP	---	---	---	---	capture		Silent	SNP	230693988	230693988	17106	2	C	T	T	T	285	22	TRIP12	2	2
TRIP12	9320	broad.mit.edu	37	2	230723819	230723819	+	Nonsense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:230723819A>T	uc002vpx.1	-	c.696T>A	c.(694-696)TGT>TGA	p.C232*	TRIP12_uc002vpw.1_Nonsense_Mutation_p.C190*|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Nonsense_Mutation_p.C190*	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	190					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)										0.457447	128.061228	128.202134	43	51	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	230723819	230723819	17106	2	A	T	T	T	180	14	TRIP12	5	3
SP140	11262	broad.mit.edu	37	2	231103043	231103043	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231103043T>A	uc002vql.2	+	c.353T>A	c.(352-354)ATT>AAT	p.I118N	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqj.2_Missense_Mutation_p.I118N|SP140_uc002vqk.2_Missense_Mutation_p.I118N|SP140_uc002vqn.2_Missense_Mutation_p.I118N|SP140_uc002vqm.2_Missense_Mutation_p.I118N|SP140_uc010fxl.2_Missense_Mutation_p.I118N	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	118	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)						802				0.105556	14.897303	42.728555	19	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231103043	231103043	15462	2	T	A	A	A	676	52	SP140	3	3
SP140	11262	broad.mit.edu	37	2	231120199	231120199	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231120199G>T	uc002vql.2	+	c.1192G>T	c.(1192-1194)GGA>TGA	p.G398*	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Nonsense_Mutation_p.G364*|SP140_uc002vqn.2_Nonsense_Mutation_p.G284*|SP140_uc002vqm.2_Nonsense_Mutation_p.G338*|SP140_uc010fxl.2_Intron	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	398					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)						802				0.125373	47.497556	93.71609	42	293	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	231120199	231120199	15462	2	G	T	T	T	611	47	SP140	5	2
SP140	11262	broad.mit.edu	37	2	231134613	231134613	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231134613G>T	uc002vql.2	+	c.1389G>T	c.(1387-1389)GAG>GAT	p.E463D	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.2_Missense_Mutation_p.E349D|SP140_uc002vqm.2_Missense_Mutation_p.E403D|SP140_uc010fxl.2_Missense_Mutation_p.E436D	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	463					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)						802				0.131868	29.957406	54.047831	24	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	231134613	231134613	15462	2	G	T	T	T	451	35	SP140	2	2
PSMD1	5707	broad.mit.edu	37	2	231947621	231947622	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:231947621_231947622GG>TT	uc002vrn.1	+	c.1438_1439GG>TT	c.(1438-1440)GGC>TTC	p.G480F	PSMD1_uc002vrm.1_Missense_Mutation_p.G480F|PSMD1_uc010fxu.1_Missense_Mutation_p.G344F	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	480	PC 3.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)	1		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)									0.392157	55.080923	55.602483	20	31	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	231947621	231947622	13145	2	GG	TT	TT	TT	559	43	PSMD1	2	2
ALPP	250	broad.mit.edu	37	2	233244940	233244941	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233244940_233244941CC>AA	uc002vsq.2	+	c.702_703CC>AA	c.(700-705)ACCCCA>ACAACA	p.P235T	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	235						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)										0.124464	38.248933	70.336844	29	204	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	233244940	233244941	551	2	CC	AA	AA	AA	275	22	ALPP	2	2
ECEL1	9427	broad.mit.edu	37	2	233345122	233345122	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233345122G>T	uc002vsv.2	-	c.2215C>A	c.(2215-2217)CCT>ACT	p.P739T	ECEL1_uc010fya.1_Missense_Mutation_p.P737T|ECEL1_uc010fyb.1_Missense_Mutation_p.P446T	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	739	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)										0.257143	43.820827	47.561522	18	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233345122	233345122	5078	2	G	T	T	T	559	43	ECEL1	2	2
DNAJB3	414061	broad.mit.edu	37	2	234652531	234652531	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234652531G>T	uc002vuz.2	-	c.32C>A	c.(31-33)CCC>CAC	p.P11H	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	11	J.				protein folding		heat shock protein binding|unfolded protein binding				0														0.4	85.329298	85.985147	30	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234652531	234652531	4804	2	G	T	T	T	559	43	DNAJB3	2	2
UGT1A1	54658	broad.mit.edu	37	2	234669236	234669236	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234669236G>T	uc002vvb.2	+	c.303G>T	c.(301-303)GAG>GAT	p.E101D	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.E101D	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	101					bilirubin conjugation|digestion|drug metabolic process|estrogen metabolic process|flavone metabolic process|heme catabolic process|negative regulation of steroid metabolic process|retinoic acid metabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)	1		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)									0.091286	7.397779	47.943118	22	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234669236	234669236	17502	2	G	T	T	T	425	33	UGT1A1	2	2
SPP2	6694	broad.mit.edu	37	2	234969063	234969063	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234969063G>T	uc002vvk.1	+	c.384G>T	c.(382-384)CAG>CAT	p.Q128H	SPP2_uc010fyl.1_Missense_Mutation_p.Q48H	NM_006944	NP_008875	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa precursor	128					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity				0		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)										0.081272	-0.885359	49.664832	23	260	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234969063	234969063	15600	2	G	T	T	T	451	35	SPP2	2	2
SH3BP4	23677	broad.mit.edu	37	2	235951538	235951538	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:235951538G>T	uc002vvp.2	+	c.2125G>T	c.(2125-2127)GGC>TGC	p.G709C	SH3BP4_uc010fym.2_Missense_Mutation_p.G709C|SH3BP4_uc002vvq.2_Missense_Mutation_p.G709C	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	709					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			ovary(1)|skin(1)	2		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)										0.117647	9.270271	19.028819	8	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235951538	235951538	14737	2	G	T	T	T	559	43	SH3BP4	2	2
SH3BP4	23677	broad.mit.edu	37	2	235951704	235951704	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:235951704A>T	uc002vvp.2	+	c.2291A>T	c.(2290-2292)GAG>GTG	p.E764V	SH3BP4_uc010fym.2_Missense_Mutation_p.E764V|SH3BP4_uc002vvq.2_Missense_Mutation_p.E764V	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	764					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			ovary(1)|skin(1)	2		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)										0.45614	78.543908	78.639319	26	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235951704	235951704	14737	2	A	T	T	T	143	11	SH3BP4	3	3
AGAP1	116987	broad.mit.edu	37	2	236659003	236659003	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:236659003A>G	uc002vvs.2	+	c.544A>G	c.(544-546)ATA>GTA	p.I182V	AGAP1_uc002vvt.2_Missense_Mutation_p.I182V	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	182	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)	2														0.129032	19.715827	36.337727	16	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	236659003	236659003	368	2	A	G	G	G	104	8	AGAP1	4	4
CXCR7	57007	broad.mit.edu	37	2	237490011	237490011	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:237490011G>T	uc010fyq.2	+	c.903G>T	c.(901-903)CAG>CAT	p.Q301H	CXCR7_uc002vwd.2_Missense_Mutation_p.Q301H	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	301	Helical; Name=7; (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)						49				0.199115	102.563776	121.590194	45	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237490011	237490011	4256	2	G	T	T	T	464	36	CXCR7	2	2
COL6A3	1293	broad.mit.edu	37	2	238283544	238283544	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238283544G>A	uc002vwl.2	-	c.3190C>T	c.(3190-3192)CGG>TGG	p.R1064W	COL6A3_uc002vwo.2_Missense_Mutation_p.R858W|COL6A3_uc010znj.1_Missense_Mutation_p.R457W|COL6A3_uc002vwq.2_Missense_Mutation_p.R858W|COL6A3_uc002vwr.2_Missense_Mutation_p.R657W	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1064	Nonhelical region.|VWFA 6.		R -> Q (in UCMD).		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)										0.333333	109.528832	112.324918	38	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238283544	238283544	3839	2	G	A	A	A	506	39	COL6A3	1	1
COL6A3	1293	broad.mit.edu	37	2	238287348	238287348	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238287348G>C	uc002vwl.2	-	c.2428C>G	c.(2428-2430)CAG>GAG	p.Q810E	COL6A3_uc002vwo.2_Missense_Mutation_p.Q604E|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.Q604E|COL6A3_uc002vwr.2_Missense_Mutation_p.Q403E|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	810	VWFA 4.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		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)										0.209738	151.559282	172.369795	56	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238287348	238287348	3839	2	G	C	C	C	585	45	COL6A3	3	3
COL6A3	1293	broad.mit.edu	37	2	238289978	238289978	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238289978C>A	uc002vwl.2	-	c.1477G>T	c.(1477-1479)GTG>TTG	p.V493L	COL6A3_uc002vwo.2_Missense_Mutation_p.V287L|COL6A3_uc010znj.1_Missense_Mutation_p.V86L|COL6A3_uc002vwq.2_Missense_Mutation_p.V287L|COL6A3_uc002vwr.2_Missense_Mutation_p.V86L|COL6A3_uc010znk.1_Missense_Mutation_p.V493L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	493	VWFA 3.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|pancreas(1)	15		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		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)										0.276256	325.684955	345.425164	121	317	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	238289978	238289978	3839	2	C	A	A	A	221	17	COL6A3	2	2
RAB17	64284	broad.mit.edu	37	2	238494768	238494768	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:238494768G>A	uc002vwz.1	-	c.30C>T	c.(28-30)CCC>CCT	p.P10P	RAB17_uc002vxa.1_Non-coding_Transcript|RAB17_uc002vxb.1_Non-coding_Transcript	NM_022449	NP_071894	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	10					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding				0		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		Colon(56;987 1029 6466 13943 27336)								0.256757	49.563863	53.486676	19	55	KEEP	---	---	---	---	capture		Silent	SNP	238494768	238494768	13361	2	G	A	A	A	600	47	RAB17	2	2
PRR21	643905	broad.mit.edu	37	2	240981395	240981395	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:240981395G>T	uc010zod.1	-	c.1005C>A	c.(1003-1005)TTC>TTA	p.F335L		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	335										ovary(1)	1														0.548837	358.944133	359.387797	118	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	240981395	240981395	13040	2	G	T	T	T	581	45	PRR21	2	2
PASK	23178	broad.mit.edu	37	2	242076536	242076536	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242076536C>A	uc010fzl.1	-	c.1020G>T	c.(1018-1020)TGG>TGT	p.W340C	PASK_uc010zol.1_Missense_Mutation_p.W154C|PASK_uc002wao.1_Missense_Mutation_p.W340C|PASK_uc010zom.1_Missense_Mutation_p.W305C|PASK_uc010zon.1_Missense_Mutation_p.W121C|PASK_uc002wap.2_5'Flank|PASK_uc002waq.2_Missense_Mutation_p.W340C	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	340	PAS 2.				protein phosphorylation|regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)						754				0.197531	32.246493	39.159198	16	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242076536	242076536	11889	2	C	A	A	A	286	22	PASK	2	2
C2orf85	285093	broad.mit.edu	37	2	242815135	242815135	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:242815135C>A	uc010fzu.1	+	c.1428C>A	c.(1426-1428)TTC>TTA	p.F476L		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	476						integral to membrane				ovary(1)	1														0.454545	26.068396	26.103198	10	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242815135	242815135	2292	2	C	A	A	A	402	31	C2orf85	1	1
C2orf18	54978	broad.mit.edu	37	2	27001345	27001345	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27001345G>T	uc002rhp.1	+	c.1082G>T	c.(1081-1083)GGT>GTT	p.G361V	C2orf18_uc002rhq.1_Missense_Mutation_p.G278V|C2orf18_uc010eyo.1_Missense_Mutation_p.G308V|C2orf18_uc010ylc.1_Missense_Mutation_p.G214V	NM_017877	NP_060347	Q8N357	CB018_HUMAN	ANT2-binding protein precursor	361						integral to membrane|lysosomal membrane					0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.55814	78.404006	78.530524	24	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27001345	27001345	2244	2	G	T	T	T	572	44	C2orf18	2	2
DPYSL5	56896	broad.mit.edu	37	2	27165429	27165429	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27165429G>T	uc002rhu.3	+	c.1251G>T	c.(1249-1251)ACG>ACT	p.T417T	DPYSL5_uc002rhv.3_Silent_p.T417T	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	417					axon guidance|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.511111	75.227492	75.232414	23	22	KEEP	---	---	---	---	capture		Silent	SNP	27165429	27165429	4934	2	G	T	T	T	483	38	DPYSL5	1	1
CAD	790	broad.mit.edu	37	2	27446888	27446888	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27446888G>T	uc002rji.2	+	c.1099G>T	c.(1099-1101)GGC>TGC	p.G367C	CAD_uc010eyw.2_Missense_Mutation_p.G367C	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	367	Linker.				'de novo' pyrimidine base biosynthetic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|nuclear matrix	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)					653				0.111111	13.773838	32.605721	14	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27446888	27446888	2681	2	G	T	T	T	559	43	CAD	2	2
SLC30A3	7781	broad.mit.edu	37	2	27480055	27480055	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27480055C>A	uc002rjk.2	-	c.744G>T	c.(742-744)GGG>GGT	p.G248G	SLC30A3_uc002rjj.2_Missense_Mutation_p.G94V|SLC30A3_uc010ylh.1_Silent_p.G243G	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	248	Helical; (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.086957	0.564899	8.510096	4	42	KEEP	---	---	---	---	capture		Silent	SNP	27480055	27480055	15053	2	C	A	A	A	275	22	SLC30A3	2	2
NRBP1	29959	broad.mit.edu	37	2	27656155	27656155	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27656155G>C	uc002rko.2	+	c.15G>C	c.(13-15)GAG>GAC	p.E5D	NRBP1_uc002rkq.2_Missense_Mutation_p.E5D|NRBP1_uc002rkp.2_Missense_Mutation_p.E5D	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein	5					ER to Golgi vesicle-mediated transport|gene expression|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			ovary(2)|lung(1)	3	Acute lymphoblastic leukemia(172;0.155)									152				0.355556	46.69077	47.51643	16	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27656155	27656155	11047	2	G	C	C	C	464	36	NRBP1	3	3
BRE	9577	broad.mit.edu	37	2	28467721	28467721	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:28467721T>G	uc002rls.2	+	c.926T>G	c.(925-927)CTT>CGT	p.L309R	BRE_uc002rlp.1_Missense_Mutation_p.L309R|BRE_uc002rlq.2_Missense_Mutation_p.L309R|BRE_uc002rlr.2_Missense_Mutation_p.L309R|BRE_uc002rlt.2_Missense_Mutation_p.L309R|BRE_uc002rlu.2_Missense_Mutation_p.L309R|BRE_uc002rlv.2_Missense_Mutation_p.L171R	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A	309	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			lung(1)|kidney(1)	2	Acute lymphoblastic leukemia(172;0.155)													0.469136	115.119629	115.188409	38	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28467721	28467721	1540	2	T	G	G	G	728	56	BRE	4	4
ALK	238	broad.mit.edu	37	2	29455249	29455249	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29455249G>T	uc002rmy.2	-	c.2553C>A	c.(2551-2553)GCC>GCA	p.A851A		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	851	Gly-rich.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.147541	26.080102	40.635575	18	104	KEEP	---	---	---	---	capture		Silent	SNP	29455249	29455249	528	2	G	T	T	T	600	47	ALK	2	2
ALK	238	broad.mit.edu	37	2	29551311	29551311	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29551311G>C	uc002rmy.2	-	c.1319C>G	c.(1318-1320)TCC>TGC	p.S440C		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	440	LDL-receptor class A.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(191)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(14)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(200)|autonomic_ganglia(95)|soft_tissue(59)|kidney(4)|large_intestine(3)|ovary(3)|central_nervous_system(1)|breast(1)|pancreas(1)	1093	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)					777				0.395833	123.129728	124.041356	38	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29551311	29551311	528	2	G	C	C	C	533	41	ALK	3	3
BIRC6	57448	broad.mit.edu	37	2	32724733	32724733	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:32724733T>C	uc010ezu.2	+	c.8588T>C	c.(8587-8589)GTT>GCT	p.V2863A		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2863					anti-apoptosis|apoptosis|post-translational protein modification	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					Pancreas(94;175 1509 16028 18060 45422)				1555				0.068966	-3.650536	24.175642	10	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32724733	32724733	1463	2	T	C	C	C	780	60	BIRC6	4	4
STRN	6801	broad.mit.edu	37	2	37129805	37129805	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37129805G>A	uc002rpn.2	-	c.581C>T	c.(580-582)ACG>ATG	p.T194M	STRN_uc010ezx.2_Missense_Mutation_p.T194M	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	194					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(717;0.0129)|all_hematologic(82;0.21)												0.412903	194.818104	195.831564	64	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37129805	37129805	15849	2	G	A	A	A	520	40	STRN	1	1
HEATR5B	54497	broad.mit.edu	37	2	37280662	37280662	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37280662C>A	uc002rpp.1	-	c.2488G>T	c.(2488-2490)GTT>TTT	p.V830F		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	830							binding			ovary(5)|breast(1)	6		all_hematologic(82;0.21)												0.333333	30.840343	31.57819	10	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37280662	37280662	7315	2	C	A	A	A	221	17	HEATR5B	2	2
SLC8A1	6546	broad.mit.edu	37	2	40657293	40657293	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:40657293C>A	uc002rrx.2	-	c.128G>T	c.(127-129)GGA>GTA	p.G43V	SLC8A1_uc002rry.2_Missense_Mutation_p.G43V|SLC8A1_uc002rrz.2_Missense_Mutation_p.G43V|SLC8A1_uc002rsa.2_Missense_Mutation_p.G43V|SLC8A1_uc002rsd.3_Missense_Mutation_p.G43V|SLC8A1_uc002rsb.1_Missense_Mutation_p.G43V|SLC8A1_uc010fan.1_Missense_Mutation_p.G43V|SLC8A1_uc002rsc.1_Missense_Mutation_p.G43V	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	43	Extracellular (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)									0.529851	208.945521	209.052474	71	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40657293	40657293	15203	2	C	A	A	A	390	30	SLC8A1	2	2
DYNC2LI1	51626	broad.mit.edu	37	2	44028817	44028817	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:44028817C>A	uc002rtl.2	+	c.774C>A	c.(772-774)ATC>ATA	p.I258I	DYNC2LI1_uc002rtj.2_Silent_p.I257I|DYNC2LI1_uc002rtk.2_Silent_p.I257I|DYNC2LI1_uc010ynz.1_Silent_p.I131I	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	257						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)												0.440678	78.152495	78.331164	26	33	KEEP	---	---	---	---	capture		Silent	SNP	44028817	44028817	5033	2	C	A	A	A	369	29	DYNC2LI1	2	2
EPAS1	2034	broad.mit.edu	37	2	46596975	46596975	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:46596975A>T	uc002ruv.2	+	c.789A>T	c.(787-789)GAA>GAT	p.E263D		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	263	PAS 2.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)											0.277778	25.934511	27.534153	10	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46596975	46596975	5343	2	A	T	T	T	24	2	EPAS1	3	3
EPAS1	2034	broad.mit.edu	37	2	46607812	46607812	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:46607812G>T	uc002ruv.2	+	c.2001G>T	c.(1999-2001)TTG>TTT	p.L667F	EPAS1_uc002ruw.2_Missense_Mutation_p.L133F	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	667					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)											0.468966	208.207454	208.325098	68	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46607812	46607812	5343	2	G	T	T	T	607	47	EPAS1	2	2
EPAS1	2034	broad.mit.edu	37	2	46609131	46609131	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:46609131C>T	uc002ruv.2	+	c.2190C>T	c.(2188-2190)GGC>GGT	p.G730G	EPAS1_uc002ruw.2_Silent_p.G196G	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	730					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			ovary(1)|skin(1)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)											0.130435	6.108494	12.246269	6	40	KEEP	---	---	---	---	capture		Silent	SNP	46609131	46609131	5343	2	C	T	T	T	314	25	EPAS1	2	2
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808697	48808697	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:48808697A>C	uc002rwp.1	+	c.925A>C	c.(925-927)ATG>CTG	p.M309L	STON1_uc002rwo.3_Missense_Mutation_p.M309L|STON1_uc010fbm.2_Missense_Mutation_p.M309L|STON1-GTF2A1L_uc010yol.1_Missense_Mutation_p.M309L|STON1_uc002rwr.2_Non-coding_Transcript|STON1_uc002rwq.2_Missense_Mutation_p.M309L	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	STON1-GTF2A1L protein	309					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex	RNA polymerase II transcription factor activity			ovary(3)|pancreas(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)											0.174419	34.17816	42.775191	15	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48808697	48808697	15837	2	A	C	C	C	156	12	STON1-GTF2A1L	4	4
NRXN1	9378	broad.mit.edu	37	2	50282164	50282164	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50282164C>G	uc010fbq.2	-	c.3857G>C	c.(3856-3858)CGC>CCC	p.R1286P	NRXN1_uc010fbp.2_Intron|NRXN1_uc002rxb.3_Missense_Mutation_p.R918P|NRXN1_uc002rxe.3_Intron	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	205	Extracellular (Potential).|Laminin G-like.				neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.25	19.849376	21.415032	7	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50282164	50282164	11070	2	C	G	G	G	351	27	NRXN1	3	3
NRXN1	9378	broad.mit.edu	37	2	50758552	50758552	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50758552G>T	uc010fbq.2	-	c.2280C>A	c.(2278-2280)AGC>AGA	p.S760R	NRXN1_uc002rxb.3_Missense_Mutation_p.S392R|NRXN1_uc002rxe.3_Missense_Mutation_p.S720R|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.5	59.486305	59.486305	20	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50758552	50758552	11070	2	G	T	T	T	438	34	NRXN1	2	2
NRXN1	9378	broad.mit.edu	37	2	50847201	50847201	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50847201C>A	uc010fbq.2	-	c.1399G>T	c.(1399-1401)GGG>TGG	p.G467W	NRXN1_uc002rxb.3_Missense_Mutation_p.G99W|NRXN1_uc002rxe.3_Missense_Mutation_p.G427W|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:Variant_position_missing_in_P58400_after_alignment					neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.507246	107.322907	107.326023	35	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50847201	50847201	11070	2	C	A	A	A	312	24	NRXN1	2	2
NRXN1	9378	broad.mit.edu	37	2	51255088	51255088	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:51255088C>G	uc010fbq.2	-	c.324G>C	c.(322-324)CCG>CCC	p.P108P	NRXN1_uc002rxe.3_Silent_p.P108P|NRXN1_uc002rxd.1_Silent_p.P108P	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	171	Extracellular (Potential).|Laminin G-like.				neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.6	30.177601	30.309012	9	6	KEEP	---	---	---	---	capture		Silent	SNP	51255088	51255088	11070	2	C	G	G	G	288	23	NRXN1	3	3
GPR75	10936	broad.mit.edu	37	2	54081076	54081076	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54081076C>A	uc002rxo.3	-	c.818G>T	c.(817-819)AGG>ATG	p.R273M	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	273	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)											0.4	58.187818	58.625705	20	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54081076	54081076	6983	2	C	A	A	A	312	24	GPR75	2	2
PSME4	23198	broad.mit.edu	37	2	54148067	54148067	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54148067C>A	uc002rxp.2	-	c.2221G>T	c.(2221-2223)GGT>TGT	p.G741C	PSME4_uc010yop.1_Missense_Mutation_p.G627C|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.G116C|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	741					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)											0.448598	146.78688	147.033051	48	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54148067	54148067	13162	2	C	A	A	A	312	24	PSME4	2	2
PSME4	23198	broad.mit.edu	37	2	54150541	54150541	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54150541C>A	uc002rxp.2	-	c.1825G>T	c.(1825-1827)GTT>TTT	p.V609F	PSME4_uc010yop.1_Missense_Mutation_p.V495F|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator	609					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)											0.419355	36.058388	36.236455	13	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54150541	54150541	13162	2	C	A	A	A	234	18	PSME4	2	2
SPTBN1	6711	broad.mit.edu	37	2	54855368	54855368	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54855368G>T	uc002rxu.2	+	c.1779G>T	c.(1777-1779)AAG>AAT	p.K593N	SPTBN1_uc002rxv.1_Missense_Mutation_p.K593N|SPTBN1_uc002rxx.2_Missense_Mutation_p.K580N	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	593	Spectrin 3.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(2)|breast(2)|central_nervous_system(2)	6			Lung(47;0.24)											0.34	50.469708	51.596357	17	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54855368	54855368	15633	2	G	T	T	T	464	36	SPTBN1	2	2
CCDC88A	55704	broad.mit.edu	37	2	55563918	55563918	+	Nonsense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:55563918G>A	uc002ryv.2	-	c.1555C>T	c.(1555-1557)CAA>TAA	p.Q519*	CCDC88A_uc010yoz.1_Nonsense_Mutation_p.Q519*|CCDC88A_uc010ypa.1_Nonsense_Mutation_p.Q519*|CCDC88A_uc010ypb.1_Nonsense_Mutation_p.Q421*|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.2_5'Flank	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	519	Potential.				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														0.392857	30.717426	30.999296	11	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55563918	55563918	2988	2	G	A	A	A	598	46	CCDC88A	5	2
REL	5966	broad.mit.edu	37	2	61149451	61149451	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:61149451C>A	uc002sam.1	+	c.1641C>A	c.(1639-1641)GGC>GGA	p.G547G	REL_uc002san.1_Silent_p.G515G	NM_002908	NP_002899	Q04864	REL_HUMAN	v-rel reticuloendotheliosis viral oncogene	547					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)							156				0.316964	207.828415	214.456813	71	153	KEEP	---	---	---	---	capture		Silent	SNP	61149451	61149451	13684	2	C	A	A	A	340	27	REL	1	1
TMEM18	129787	broad.mit.edu	37	2	675556	675556	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:675556C>A	uc002qwl.2	-	c.132G>T	c.(130-132)TTG>TTT	p.L44F	TMEM18_uc002qwk.2_Non-coding_Transcript	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	44	Helical; (Potential).				cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)										0.345238	164.64965	168.179747	58	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	675556	675556	16632	2	C	A	A	A	220	17	TMEM18	2	2
RAB11FIP5	26056	broad.mit.edu	37	2	73316238	73316238	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73316238G>A	uc002siu.3	-	c.637C>T	c.(637-639)CCA>TCA	p.P213S	RAB11FIP5_uc002sit.3_Missense_Mutation_p.P135S	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	213					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding				0														0.366071	116.286385	118.035414	41	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73316238	73316238	13356	2	G	A	A	A	559	43	RAB11FIP5	2	2
ALMS1	7840	broad.mit.edu	37	2	73678173	73678173	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73678173G>T	uc002sje.1	+	c.4522G>T	c.(4522-4524)GGA>TGA	p.G1508*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.G1464*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.G894*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.G894*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1506	21.|34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle|visual perception	centrosome|cilium|cytosol|microtubule basal body|spindle pole				ovary(2)|breast(2)|lung(1)|pancreas(1)	6														0.380165	130.562501	132.070798	46	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	73678173	73678173	538	2	G	T	T	T	611	47	ALMS1	5	2
ALMS1	7840	broad.mit.edu	37	2	73717143	73717143	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:73717143C>T	uc002sje.1	+	c.8060C>T	c.(8059-8061)CCT>CTT	p.P2687L	ALMS1_uc002sjf.1_Missense_Mutation_p.P2643L|ALMS1_uc002sjg.2_Missense_Mutation_p.P2073L|ALMS1_uc002sjh.1_Missense_Mutation_p.P2073L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2685					G2/M transition of mitotic cell cycle|visual perception	centrosome|cilium|cytosol|microtubule basal body|spindle pole				ovary(2)|breast(2)|lung(1)|pancreas(1)	6														0.412308	424.305977	426.484452	134	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73717143	73717143	538	2	C	T	T	T	312	24	ALMS1	2	2
DUSP11	8446	broad.mit.edu	37	2	74001052	74001052	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74001052T>A	uc002sjp.2	-	c.451_splice	c.e4-1	p.D151_splice	DUSP11_uc002sjq.3_Splice_Site_SNP_p.D151_splice	NM_003584	NP_003575			dual specificity phosphatase 11						RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding				0														0.535714	96.155135	96.217539	30	26	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	74001052	74001052	4996	2	T	A	A	A	689	53	DUSP11	5	3
TTC31	64427	broad.mit.edu	37	2	74718475	74718475	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74718475A>T	uc002slt.2	+	c.657A>T	c.(655-657)CCA>CCT	p.P219P	TTC31_uc002sls.2_Silent_p.P148P|TTC31_uc010yrv.1_Silent_p.P75P|TTC31_uc002slu.2_Silent_p.P75P	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	219							binding				0														0.404545	269.85156	271.596159	89	131	KEEP	---	---	---	---	capture		Silent	SNP	74718475	74718475	17255	2	A	T	T	T	80	7	TTC31	3	3
LRRTM4	80059	broad.mit.edu	37	2	76975852	76975852	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:76975852G>T	uc002snr.2	-	c.1742C>A	c.(1741-1743)CCG>CAG	p.P581Q	LRRTM4_uc002snq.2_Missense_Mutation_p.P581Q	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	581	Cytoplasmic (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)										0.128	21.129456	37.984925	16	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76975852	76975852	9418	2	G	T	T	T	507	39	LRRTM4	1	1
LRRTM4	80059	broad.mit.edu	37	2	77745714	77745714	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:77745714G>T	uc002snr.2	-	c.1281C>A	c.(1279-1281)GCC>GCA	p.A427A	LRRTM4_uc002snq.2_Silent_p.A427A|LRRTM4_uc002sns.2_Silent_p.A427A|LRRTM4_uc002snt.2_Silent_p.A428A	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	427	Helical; (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)										0.479452	221.851214	221.904003	70	76	KEEP	---	---	---	---	capture		Silent	SNP	77745714	77745714	9418	2	G	T	T	T	496	39	LRRTM4	1	1
REG1A	5967	broad.mit.edu	37	2	79348699	79348699	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79348699C>A	uc002snz.2	+	c.76C>A	c.(76-78)CAG>AAG	p.Q26K	REG1A_uc010ffx.1_Missense_Mutation_p.Q26K|REG1A_uc010ysd.1_Missense_Mutation_p.Q26K	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	26					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0														0.367857	589.876676	598.519731	206	354	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79348699	79348699	13679	2	C	A	A	A	273	21	REG1A	2	2
REG1A	5967	broad.mit.edu	37	2	79349996	79349996	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79349996C>T	uc002snz.2	+	c.351C>T	c.(349-351)TCC>TCT	p.S117S	REG1A_uc010ysd.1_Silent_p.S117S	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	117	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0														0.437209	281.080059	281.823028	94	121	KEEP	---	---	---	---	capture		Silent	SNP	79349996	79349996	13679	2	C	T	T	T	275	22	REG1A	2	2
REG1A	5967	broad.mit.edu	37	2	79350316	79350316	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:79350316C>A	uc002snz.2	+	c.476C>A	c.(475-477)TCC>TAC	p.S159Y	REG1A_uc010ysd.1_Missense_Mutation_p.S159Y	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	159	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0														0.525424	92.733209	92.767198	31	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79350316	79350316	13679	2	C	A	A	A	390	30	REG1A	2	2
CTNNA2	1496	broad.mit.edu	37	2	80085187	80085187	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:80085187C>A	uc010ysh.1	+	c.347C>A	c.(346-348)TCG>TAG	p.S116*	CTNNA2_uc010yse.1_Nonsense_Mutation_p.S116*|CTNNA2_uc010ysf.1_Nonsense_Mutation_p.S116*|CTNNA2_uc010ysg.1_Nonsense_Mutation_p.S116*	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	116					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)	8										489				0.42953	193.358531	194.004135	64	85	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	80085187	80085187	4172	2	C	A	A	A	403	31	CTNNA2	5	1
SMYD1	150572	broad.mit.edu	37	2	88396283	88396283	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:88396283G>A	uc002ssr.2	+	c.868G>A	c.(868-870)GGG>AGG	p.G290R	SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_5'UTR	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3														0.39645	207.170581	208.729262	67	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88396283	88396283	15321	2	G	A	A	A	559	43	SMYD1	2	2
C2orf51	200523	broad.mit.edu	37	2	88828648	88828648	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:88828648G>T	uc002stb.1	+	c.199G>T	c.(199-201)GGG>TGG	p.G67W		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	67						nucleus					0														0.378378	121.211888	122.656314	42	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88828648	88828648	2261	2	G	T	T	T	611	47	C2orf51	2	2
C2orf51	200523	broad.mit.edu	37	2	88828921	88828921	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:88828921T>A	uc002stb.1	+	c.472T>A	c.(472-474)TGT>AGT	p.C158S		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	158						nucleus					0														0.521368	196.441695	196.48669	61	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88828921	88828921	2261	2	T	A	A	A	715	55	C2orf51	3	3
RPIA	22934	broad.mit.edu	37	2	89049591	89049591	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:89049591G>A	uc002ste.2	+	c.932G>A	c.(931-933)TGT>TAT	p.C311Y		NM_144563	NP_653164	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	311					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			ovary(1)	1		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)												0.352113	66.055749	67.424206	25	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89049591	89049591	14032	2	G	A	A	A	624	48	RPIA	2	2
ASAP2	8853	broad.mit.edu	37	2	9437490	9437490	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:9437490A>G	uc002qzh.2	+	c.261A>G	c.(259-261)GTA>GTG	p.V87V	ASAP2_uc002qzi.2_Silent_p.V87V	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	87					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0														0.407407	69.340687	69.74489	22	32	KEEP	---	---	---	---	capture		Silent	SNP	9437490	9437490	1029	2	A	G	G	G	197	16	ASAP2	4	4
ZAP70	7535	broad.mit.edu	37	2	98349367	98349367	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:98349367G>T	uc002syd.1	+	c.585G>T	c.(583-585)CAG>CAT	p.Q195H	ZAP70_uc010yvf.1_Missense_Mutation_p.Q195H|ZAP70_uc002sye.1_Missense_Mutation_p.Q85H|ZAP70_uc002syf.1_5'Flank	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	195	SH2 2.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)	5										138				0.340909	41.311783	42.295902	15	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98349367	98349367	18097	2	G	T	T	T	451	35	ZAP70	2	2
CNGA3	1261	broad.mit.edu	37	2	99012599	99012599	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99012599T>C	uc002syt.2	+	c.966T>C	c.(964-966)TTT>TTC	p.F322F	CNGA3_uc002syu.2_Silent_p.F304F|CNGA3_uc010fij.2_Silent_p.F326F	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	322	Helical; (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)	5														0.300699	114.736422	119.832347	43	100	KEEP	---	---	---	---	capture		Silent	SNP	99012599	99012599	3736	2	T	C	C	C	816	63	CNGA3	4	4
CNGA3	1261	broad.mit.edu	37	2	99013354	99013354	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:99013354C>A	uc002syt.2	+	c.1721C>A	c.(1720-1722)TCA>TAA	p.S574*	CNGA3_uc002syu.2_Nonsense_Mutation_p.S556*|CNGA3_uc010fij.2_Nonsense_Mutation_p.S578*	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3 isoform	574	cGMP.				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(5)	5														0.323529	61.024854	62.90548	22	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	99013354	99013354	3736	2	C	A	A	A	377	29	CNGA3	5	2
ZPLD1	131368	broad.mit.edu	37	3	102196310	102196310	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:102196310C>T	uc003dvt.1	+	c.1144C>T	c.(1144-1146)CAG>TAG	p.Q382*	ZPLD1_uc003dvs.1_Nonsense_Mutation_p.Q366*|ZPLD1_uc011bhg.1_Nonsense_Mutation_p.Q366*	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	366	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3														0.327381	630.143108	647.915838	220	452	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	102196310	102196310	18825	3	C	T	T	T	273	21	ZPLD1	5	2
CBLB	868	broad.mit.edu	37	3	105422977	105422977	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:105422977G>C	uc003dwc.2	-	c.1448C>G	c.(1447-1449)TCC>TGC	p.S483C	CBLB_uc011bhi.1_Missense_Mutation_p.S505C|CBLB_uc003dwd.1_Missense_Mutation_p.S483C|CBLB_uc003dwe.1_Missense_Mutation_p.S483C	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Cas-Br-M (murine) ecotropic retroviral	483	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			ovary(3)|lung(2)|skin(1)	6						GBM(93;588 1337 9788 29341 43499)								0.113712	46.447782	90.715862	34	265	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105422977	105422977	2820	3	G	C	C	C	533	41	CBLB	3	3
HHLA2	11148	broad.mit.edu	37	3	108076997	108076997	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108076997C>A	uc003dwy.3	+	c.992C>A	c.(991-993)ACA>AAA	p.T331K	HHLA2_uc011bhl.1_Missense_Mutation_p.T267K|HHLA2_uc010hpu.2_Missense_Mutation_p.T331K|HHLA2_uc003dwz.2_Missense_Mutation_p.T331K	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	331						integral to membrane				ovary(1)	1														0.29932	116.723155	122.026321	44	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108076997	108076997	7380	3	C	A	A	A	221	17	HHLA2	2	2
MYH15	22989	broad.mit.edu	37	3	108135677	108135677	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108135677C>T	uc003dxa.1	-	c.3990G>A	c.(3988-3990)CAG>CAA	p.Q1330Q		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1330	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7														0.325581	78.469848	80.791402	28	58	KEEP	---	---	---	---	capture		Silent	SNP	108135677	108135677	10429	3	C	T	T	T	363	28	MYH15	2	2
RETNLB	84666	broad.mit.edu	37	3	108475360	108475360	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108475360G>T	uc003dxh.2	-	c.203C>A	c.(202-204)CCT>CAT	p.P68H		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	resistin like beta precursor	68					cell proliferation	extracellular region	hormone activity				0														0.236842	63.873684	71.093071	27	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108475360	108475360	13707	3	G	T	T	T	455	35	RETNLB	2	2
DPPA4	55211	broad.mit.edu	37	3	109050771	109050771	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:109050771G>T	uc003dxq.3	-	c.286C>A	c.(286-288)CGG>AGG	p.R96R	DPPA4_uc011bho.1_Silent_p.R96R|DPPA4_uc011bhp.1_Silent_p.R96R	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	96						nucleus	protein binding				0														0.293839	177.586416	185.601321	62	149	KEEP	---	---	---	---	capture		Silent	SNP	109050771	109050771	4920	3	G	T	T	T	506	39	DPPA4	1	1
ZBED2	79413	broad.mit.edu	37	3	111312893	111312893	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111312893G>T	uc003dxy.2	-	c.156C>A	c.(154-156)ACC>ACA	p.T52T	CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	zinc finger, BED domain containing 2	52	BED-type.						DNA binding|metal ion binding				0														0.604938	154.486688	155.266447	49	32	KEEP	---	---	---	---	capture		Silent	SNP	111312893	111312893	18102	3	G	T	T	T	548	43	ZBED2	2	2
ZBED2	79413	broad.mit.edu	37	3	111312927	111312927	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:111312927G>T	uc003dxy.2	-	c.122C>A	c.(121-123)GCT>GAT	p.A41D	CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	zinc finger, BED domain containing 2	41							DNA binding|metal ion binding				0														0.25641	49.080496	53.266413	20	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111312927	111312927	18102	3	G	T	T	T	442	34	ZBED2	2	2
CCDC80	151887	broad.mit.edu	37	3	112328923	112328923	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112328923C>A	uc003dzf.2	-	c.2327G>T	c.(2326-2328)CGG>CTG	p.R776L	CCDC80_uc011bhv.1_Missense_Mutation_p.R776L|CCDC80_uc003dzg.2_Missense_Mutation_p.R776L|CCDC80_uc003dzh.1_Missense_Mutation_p.R776L	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	776										ovary(2)	2														0.559633	207.195	207.534491	61	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112328923	112328923	2978	3	C	A	A	A	299	23	CCDC80	1	1
CD200R1L	344807	broad.mit.edu	37	3	112545933	112545933	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:112545933T>G	uc003dzi.1	-	c.586A>C	c.(586-588)AGT>CGT	p.S196R	CD200R1L_uc011bhw.1_Missense_Mutation_p.S175R|CD200R1L_uc010hqf.1_Missense_Mutation_p.S175R	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN	CD200 cell surface glycoprotein receptor 2	196	Extracellular (Potential).|Ig-like C2-type.					integral to membrane	receptor activity			ovary(1)	1														0.131944	22.842721	42.015738	19	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112545933	112545933	3109	3	T	G	G	G	702	54	CD200R1L	4	4
KIAA2018	205717	broad.mit.edu	37	3	113376755	113376755	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:113376755C>T	uc003eam.2	-	c.3774G>A	c.(3772-3774)GCG>GCA	p.A1258A	KIAA2018_uc003eal.2_Silent_p.A1202A	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1258						membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|transcription regulator activity			ovary(1)	1														0.603604	220.950608	221.996119	67	44	KEEP	---	---	---	---	capture		Silent	SNP	113376755	113376755	8579	3	C	T	T	T	288	23	KIAA2018	1	1
ZBTB20	26137	broad.mit.edu	37	3	114069647	114069647	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:114069647T>C	uc003ebi.2	-	c.1278A>G	c.(1276-1278)CTA>CTG	p.L426L	ZBTB20_uc003ebj.2_Silent_p.L353L|ZBTB20_uc010hqp.2_Silent_p.L353L|ZBTB20_uc003ebk.2_Silent_p.L353L|ZBTB20_uc003ebl.2_Silent_p.L353L|ZBTB20_uc003ebm.2_Silent_p.L353L|ZBTB20_uc003ebn.2_Silent_p.L353L	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		NSCLC(69;748 1344 9802 11203 30933)								0.202614	76.556025	89.110607	31	122	KEEP	---	---	---	---	capture		Silent	SNP	114069647	114069647	18115	3	T	C	C	C	678	53	ZBTB20	4	4
GAP43	2596	broad.mit.edu	37	3	115395142	115395143	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:115395142_115395143GG>TT	uc003ebr.2	+	c.421_422GG>TT	c.(421-423)GGA>TTA	p.G141L	GAP43_uc003ebq.2_Missense_Mutation_p.G105L	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	growth associated protein 43 isoform 1	105					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)										0.203704	26.796682	31.195473	11	43	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	115395142	115395143	6499	3	GG	TT	TT	TT	455	35	GAP43	2	2
ADPRH	141	broad.mit.edu	37	3	119306347	119306347	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119306347A>C	uc003ecs.2	+	c.696A>C	c.(694-696)AAA>AAC	p.K232N	ADPRH_uc010hqv.2_Missense_Mutation_p.K232N|ADPRH_uc011bjb.1_Missense_Mutation_p.K125N|ADPRH_uc003ect.2_Missense_Mutation_p.K232N	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	232					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GBM(133;579 1804 5989 9967 40052)								0.078125	0.225591	11.869255	5	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119306347	119306347	332	3	A	C	C	C	24	2	ADPRH	4	4
ADPRH	141	broad.mit.edu	37	3	119306361	119306361	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119306361T>C	uc003ecs.2	+	c.710T>C	c.(709-711)TTG>TCG	p.L237S	ADPRH_uc010hqv.2_Missense_Mutation_p.L237S|ADPRH_uc011bjb.1_Missense_Mutation_p.L130S|ADPRH_uc003ect.2_Missense_Mutation_p.L237S	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	237					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GBM(133;579 1804 5989 9967 40052)								0.084507	1.899809	14.337061	6	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119306361	119306361	332	3	T	C	C	C	819	63	ADPRH	4	4
STXBP5L	9515	broad.mit.edu	37	3	120973802	120973802	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:120973802G>T	uc003eec.3	+	c.1502G>T	c.(1501-1503)GGA>GTA	p.G501V	STXBP5L_uc011bji.1_Missense_Mutation_p.G501V	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	501					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)	7				GBM - Glioblastoma multiforme(114;0.0694)										0.325581	71.975513	74.294266	28	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120973802	120973802	15877	3	G	T	T	T	533	41	STXBP5L	2	2
DTX3L	151636	broad.mit.edu	37	3	122289383	122289383	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122289383G>A	uc003efk.2	+	c.2017G>A	c.(2017-2019)GTT>ATT	p.V673I	DTX3L_uc010hrj.2_Missense_Mutation_p.V161I	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	deltex 3-like	673					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)										0.319048	178.860187	184.966527	67	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122289383	122289383	4981	3	G	A	A	A	572	44	DTX3L	2	2
SEMA5B	54437	broad.mit.edu	37	3	122632803	122632803	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122632803C>A	uc003efz.1	-	c.2034G>T	c.(2032-2034)ACG>ACT	p.T678T	SEMA5B_uc011bju.1_Silent_p.T620T|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.T678T|SEMA5B_uc010hro.1_Silent_p.T620T|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	678	Extracellular (Potential).|TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)						383				0.169811	19.959152	25.412542	9	44	KEEP	---	---	---	---	capture		Silent	SNP	122632803	122632803	14524	3	C	A	A	A	236	19	SEMA5B	1	1
SEMA5B	54437	broad.mit.edu	37	3	122645495	122645495	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122645495C>A	uc003efz.1	-	c.880G>T	c.(880-882)GGG>TGG	p.G294W	SEMA5B_uc011bju.1_Missense_Mutation_p.G236W|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.G294W|SEMA5B_uc010hro.1_Missense_Mutation_p.G236W|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	294	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)						383				0.266667	40.974816	43.92453	16	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122645495	122645495	14524	3	C	A	A	A	273	21	SEMA5B	2	2
ROPN1	54763	broad.mit.edu	37	3	123688964	123688964	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123688964G>C	uc003eha.2	-	c.497C>G	c.(496-498)ACG>AGG	p.T166R		NM_017578	NP_060048	Q9HAT0	ROP1A_HUMAN	ropporin	166					signal transduction		cAMP-dependent protein kinase regulator activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.148)										0.590909	359.864605	361.153842	104	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123688964	123688964	14002	3	G	C	C	C	520	40	ROPN1	3	3
KALRN	8997	broad.mit.edu	37	3	124165685	124165685	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124165685A>T	uc003ehg.2	+	c.3499A>T	c.(3499-3501)ACT>TCT	p.T1167S	KALRN_uc010hrv.1_Missense_Mutation_p.T1158S|KALRN_uc003ehf.1_Missense_Mutation_p.T1167S|KALRN_uc011bjy.1_Missense_Mutation_p.T1158S|KALRN_uc003ehh.1_Missense_Mutation_p.T513S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1167	Spectrin 5.				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				0.337793	546.873132	560.784411	202	396	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124165685	124165685	8279	3	A	T	T	T	130	10	KALRN	3	3
KALRN	8997	broad.mit.edu	37	3	124376392	124376392	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:124376392A>C	uc003ehg.2	+	c.5957A>C	c.(5956-5958)CAT>CCT	p.H1986P	KALRN_uc003ehi.2_Missense_Mutation_p.H327P|KALRN_uc003ehk.2_Missense_Mutation_p.H289P|KALRN_uc011bjz.1_Missense_Mutation_p.H78P	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1985	DH 2.				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				0.302521	109.965076	114.101893	36	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124376392	124376392	8279	3	A	C	C	C	104	8	KALRN	4	4
ALDH1L1	10840	broad.mit.edu	37	3	125874333	125874333	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:125874333C>A	uc003eim.1	-	c.542G>T	c.(541-543)AGG>ATG	p.R181M	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Intron|ALDH1L1_uc003eio.2_De_novo_Start_OutOfFrame|ALDH1L1_uc010hsf.1_Missense_Mutation_p.R207M|ALDH1L1_uc003eip.1_Missense_Mutation_p.R88M|ALDH1L1_uc011bkj.1_Missense_Mutation_p.R6M	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	181	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process|oxidation-reduction process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)									0.560976	69.125675	69.257908	23	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125874333	125874333	497	3	C	A	A	A	312	24	ALDH1L1	2	2
ZXDC	79364	broad.mit.edu	37	3	126157259	126157259	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:126157259G>C	uc003eiv.2	-	c.2536C>G	c.(2536-2538)CAG>GAG	p.Q846E	ZXDC_uc010hsh.2_Non-coding_Transcript	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	846	Interaction with CIITA.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)										0.510638	72.996816	73.001454	24	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126157259	126157259	18857	3	G	C	C	C	611	47	ZXDC	3	3
PLXNA1	5361	broad.mit.edu	37	3	126708358	126708358	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:126708358G>T	uc003ejg.2	+	c.853G>T	c.(853-855)GAG>TAG	p.E285*		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	308	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(114;0.155)										0.40625	67.419458	67.915021	26	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	126708358	126708358	12545	3	G	T	T	T	533	41	PLXNA1	5	2
EEFSEC	60678	broad.mit.edu	37	3	128060514	128060514	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128060514C>G	uc003eki.2	+	c.1225C>G	c.(1225-1227)CAG>GAG	p.Q409E	EEFSEC_uc003ekj.2_Missense_Mutation_p.Q354E	NM_021937	NP_068756	P57772	SELB_HUMAN	eukaryotic elongation factor,	409						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			ovary(1)	1														0.275	32.208842	34.031652	11	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128060514	128060514	5118	3	C	G	G	G	325	25	EEFSEC	3	3
DNAJB8	165721	broad.mit.edu	37	3	128181684	128181684	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128181684C>A	uc003ekk.1	-	c.405G>T	c.(403-405)TCG>TCT	p.S135S		NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	DnaJ homolog, subfamily B, member 8	135					protein folding		heat shock protein binding|unfolded protein binding				0				GBM - Glioblastoma multiforme(114;0.177)										0.263158	39.202837	42.092879	15	42	KEEP	---	---	---	---	capture		Silent	SNP	128181684	128181684	4809	3	C	A	A	A	288	23	DNAJB8	1	1
GATA2	2624	broad.mit.edu	37	3	128200750	128200750	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:128200750C>A	uc003ekm.3	-	c.1055G>T	c.(1054-1056)TGT>TTT	p.C352F	GATA2_uc003ekn.3_Intron|GATA2_uc003eko.2_Missense_Mutation_p.C352F	NM_001145661	NP_001139133	P23769	GATA2_HUMAN	GATA binding protein 2 isoform 1	352	GATA-type 2.				blood coagulation|phagocytosis|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of phagocytosis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1)	15				GBM - Glioblastoma multiforme(114;0.173)						134				0.212121	14.483148	17.042806	7	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128200750	128200750	6518	3	C	A	A	A	221	17	GATA2	2	2
IFT122	55764	broad.mit.edu	37	3	129233292	129233292	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:129233292G>T	uc003eml.2	+	c.3201G>T	c.(3199-3201)CGG>CGT	p.R1067R	IFT122_uc003emm.2_Silent_p.R1016R|IFT122_uc003emn.2_Silent_p.R957R|IFT122_uc003emo.2_Silent_p.R906R|IFT122_uc003emp.2_Silent_p.R866R|IFT122_uc010htc.2_Silent_p.R1009R|IFT122_uc011bky.1_Silent_p.R807R|IFT122_uc003emq.2_Silent_p.R856R|IFT122_uc003emr.2_Silent_p.R769R|IFT122_uc011bla.1_Silent_p.R790R|IFT122_uc010hte.2_Silent_p.R342R|IFT122_uc003ems.2_Silent_p.R398R	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 1	1016					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)	1														0.57971	111.057099	111.434119	40	29	KEEP	---	---	---	---	capture		Silent	SNP	129233292	129233292	7856	3	G	T	T	T	535	42	IFT122	2	2
DNAJC13	23317	broad.mit.edu	37	3	132172986	132172986	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:132172986A>T	uc003eor.2	+	c.917A>T	c.(916-918)TAT>TTT	p.Y306F	DNAJC13_uc010htq.1_Missense_Mutation_p.Y306F|DNAJC13_uc003eos.1_5'Flank	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	306							heat shock protein binding			breast(1)	1														0.339806	102.897017	105.231915	35	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132172986	132172986	4815	3	A	T	T	T	208	16	DNAJC13	3	3
SOX14	8403	broad.mit.edu	37	3	137483920	137483920	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:137483920C>A	uc003erm.1	+	c.294C>A	c.(292-294)TAC>TAA	p.Y98*		NM_004189	NP_004180	O95416	SOX14_HUMAN	SRY-box 14	98					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|transcription repressor activity				0														0.288	91.966875	96.994497	36	89	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	137483920	137483920	15445	3	C	A	A	A	233	18	SOX14	5	2
CLSTN2	64084	broad.mit.edu	37	3	140122633	140122633	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:140122633G>T	uc003etn.2	+	c.395G>T	c.(394-396)GGG>GTG	p.G132V	CLSTN2_uc003etm.2_Missense_Mutation_p.G132V	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	132	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GBM(45;858 913 3709 36904 37282)								0.634146	738.896003	744.72841	234	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140122633	140122633	3700	3	G	T	T	T	559	43	CLSTN2	2	2
GRK7	131890	broad.mit.edu	37	3	141497196	141497196	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:141497196G>T	uc011bnd.1	+	c.70G>T	c.(70-72)GAC>TAC	p.D24Y		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	24					protein phosphorylation|visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|ovary(1)|skin(1)	4										174				0.340426	41.986164	43.043723	16	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141497196	141497196	7073	3	G	T	T	T	533	41	GRK7	2	2
TFDP2	7029	broad.mit.edu	37	3	141682713	141682713	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:141682713T>A	uc003eun.3	-	c.825A>T	c.(823-825)CCA>CCT	p.P275P	TFDP2_uc003euk.3_Silent_p.P188P|TFDP2_uc010hur.2_Silent_p.P215P|TFDP2_uc003eul.3_Silent_p.P215P|TFDP2_uc011bnf.1_Silent_p.P178P|TFDP2_uc011bng.1_Silent_p.P139P|TFDP2_uc003eum.3_Silent_p.P215P	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	275	Dimerization (Potential).|DCB2.				cell cycle|regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1														0.295238	90.287636	94.223758	31	74	KEEP	---	---	---	---	capture		Silent	SNP	141682713	141682713	16326	3	T	A	A	A	652	51	TFDP2	3	3
SLC9A9	285195	broad.mit.edu	37	3	143371170	143371170	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:143371170C>A	uc003evn.2	-	c.682G>T	c.(682-684)GTC>TTC	p.V228F	SLC9A9_uc011bnk.1_Missense_Mutation_p.V102F	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	228					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)	2														0.355932	63.665143	64.741038	21	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143371170	143371170	15218	3	C	A	A	A	247	19	SLC9A9	1	1
SLC6A6	6533	broad.mit.edu	37	3	14526392	14526392	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:14526392G>T	uc010heg.2	+	c.1740G>T	c.(1738-1740)CTG>CTT	p.L580L	SLC6A6_uc003byq.2_Silent_p.L580L|SLC6A6_uc003byr.2_Non-coding_Transcript	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	580	Cytoplasmic (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1														0.535714	136.370713	136.463249	45	39	KEEP	---	---	---	---	capture		Silent	SNP	14526392	14526392	15185	3	G	T	T	T	574	45	SLC6A6	2	2
ZIC4	84107	broad.mit.edu	37	3	147109013	147109013	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147109013C>G	uc011bno.1	-	c.859G>C	c.(859-861)GAG>CAG	p.E287Q	ZIC4_uc003ewc.1_Missense_Mutation_p.E167Q|ZIC4_uc003ewd.1_Missense_Mutation_p.E237Q	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	237	C2H2-type 4.					nucleus	DNA binding|zinc ion binding				0														0.586667	150.417942	150.912512	44	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147109013	147109013	18272	3	C	G	G	G	403	31	ZIC4	3	3
ZIC1	7545	broad.mit.edu	37	3	147130340	147130340	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:147130340G>T	uc003ewe.2	+	c.1018G>T	c.(1018-1020)GAC>TAC	p.D340Y		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	340	C2H2-type 4.				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														0.25	127.911918	139.72336	52	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147130340	147130340	18269	3	G	T	T	T	585	45	ZIC1	2	2
AGTR1	185	broad.mit.edu	37	3	148459428	148459428	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148459428G>T	uc003ewg.2	+	c.606G>T	c.(604-606)CTG>CTT	p.L202L	AGTR1_uc003ewh.2_Silent_p.L202L|AGTR1_uc003ewi.2_Silent_p.L202L|AGTR1_uc003ewj.2_Silent_p.L202L|AGTR1_uc003ewk.2_Silent_p.L202L	NM_031850	NP_114038	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	202	Helical; Name=5; (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|oxygen and reactive oxygen species metabolic process|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|regulation of blood vessel size by renin-angiotensin|regulation of cell growth|regulation of cell proliferation|regulation of natriuresis|regulation of vasoconstriction|regulation of vasodilation|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction	integral to plasma membrane	acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)									0.287234	72.387081	76.203531	27	67	KEEP	---	---	---	---	capture		Silent	SNP	148459428	148459428	404	3	G	T	T	T	600	47	AGTR1	2	2
CPA3	1359	broad.mit.edu	37	3	148586791	148586791	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148586791C>A	uc003ewm.2	+	c.234C>A	c.(232-234)ATC>ATA	p.I78I		NM_001870	NP_001861	P15088	CBPA3_HUMAN	carboxypeptidase A3 precursor	78					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			breast(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)											0.19	39.463613	48.452392	19	81	KEEP	---	---	---	---	capture		Silent	SNP	148586791	148586791	3929	3	C	A	A	A	382	30	CPA3	2	2
CP	1356	broad.mit.edu	37	3	148928163	148928163	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:148928163G>T	uc003ewy.3	-	c.398C>A	c.(397-399)GCC>GAC	p.A133D	CP_uc011bnr.1_Non-coding_Transcript|CP_uc003ewx.3_5'Flank|CP_uc003ewz.2_Missense_Mutation_p.A133D|CP_uc010hvf.1_5'Flank	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	133	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)									0.196721	74.358296	90.099624	36	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148928163	148928163	3925	3	G	T	T	T	546	42	CP	2	2
MED12L	116931	broad.mit.edu	37	3	151107867	151107867	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151107867T>G	uc003eyp.2	+	c.5447T>G	c.(5446-5448)CTC>CGC	p.L1816R	MED12L_uc011bnz.1_Missense_Mutation_p.L1676R	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1816					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				0.29	202.406036	214.409315	87	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151107867	151107867	9818	3	T	G	G	G	702	54	MED12L	4	4
ZFYVE20	64145	broad.mit.edu	37	3	15116213	15116213	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:15116213G>A	uc003bzm.1	-	c.1431C>T	c.(1429-1431)GGC>GGT	p.G477G	ZFYVE20_uc010hek.1_Silent_p.G477G	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	477	Necessary for the interaction with RAB4A.|Potential.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(1)	1														0.288136	81.752019	86.473493	34	84	KEEP	---	---	---	---	capture		Silent	SNP	15116213	15116213	18256	3	G	A	A	A	535	42	ZFYVE20	2	2
IGSF10	285313	broad.mit.edu	37	3	151163146	151163146	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:151163146G>A	uc011bod.1	-	c.4623C>T	c.(4621-4623)TTC>TTT	p.F1541F		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1541					cell differentiation|multicellular organismal development|ossification	extracellular region				ovary(4)|central_nervous_system(1)	5			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)											0.247191	102.573232	112.967963	44	134	KEEP	---	---	---	---	capture		Silent	SNP	151163146	151163146	7898	3	G	A	A	A	581	45	IGSF10	2	2
SGEF	26084	broad.mit.edu	37	3	153847407	153847407	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:153847407A>G	uc011bog.1	+	c.1168A>G	c.(1168-1170)ATT>GTT	p.I390V	SGEF_uc011boh.1_Missense_Mutation_p.I390V	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	390					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)											0.393939	69.023077	69.676367	26	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153847407	153847407	14696	3	A	G	G	G	104	8	SGEF	4	4
PLCH1	23007	broad.mit.edu	37	3	155282834	155282834	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:155282834C>A	uc011bok.1	-	c.903G>T	c.(901-903)ATG>ATT	p.M301I	PLCH1_uc011boj.1_Missense_Mutation_p.M301I|PLCH1_uc011bol.1_Missense_Mutation_p.M283I	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	301	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)											0.273684	65.704514	70.091688	26	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155282834	155282834	12463	3	C	A	A	A	273	21	PLCH1	2	2
SI	6476	broad.mit.edu	37	3	164760931	164760931	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164760931T>C	uc003fei.2	-	c.1920A>G	c.(1918-1920)GAA>GAG	p.E640E		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	640	Lumenal.|Isomaltase.				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)									0.253425	101.015284	109.066941	37	109	KEEP	---	---	---	---	capture		Silent	SNP	164760931	164760931	14792	3	T	C	C	C	829	64	SI	4	4
WDR49	151790	broad.mit.edu	37	3	167246875	167246875	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167246875C>A	uc003fev.1	-	c.1315G>T	c.(1315-1317)GAT>TAT	p.D439Y	WDR49_uc003feu.1_Missense_Mutation_p.D264Y|WDR49_uc011bpd.1_Missense_Mutation_p.D503Y|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	439	WD 7.									large_intestine(1)|ovary(1)	2														0.288235	122.795669	129.638582	49	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167246875	167246875	17875	3	C	A	A	A	416	32	WDR49	2	2
SLC2A2	6514	broad.mit.edu	37	3	170736366	170736366	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:170736366G>T	uc003fhe.1	-	c.62C>A	c.(61-63)TCC>TAC	p.S21Y	SLC2A2_uc003fhf.1_5'UTR|SLC2A2_uc011bpu.1_5'UTR	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	21	Helical; Name=1; (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)									OREG0015920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.595628	661.442038	664.392173	218	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170736366	170736366	15041	3	G	T	T	T	533	41	SLC2A2	2	2
FNDC3B	64778	broad.mit.edu	37	3	172052793	172052793	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:172052793G>A	uc003fhy.2	+	c.1701G>A	c.(1699-1701)ACG>ACA	p.T567T	FNDC3B_uc003fhz.3_Silent_p.T567T|FNDC3B_uc003fia.2_Silent_p.T498T	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	567						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)										0.318182	195.689808	202.144936	70	150	KEEP	---	---	---	---	capture		Silent	SNP	172052793	172052793	6212	3	G	A	A	A	470	37	FNDC3B	1	1
PEX5L	51555	broad.mit.edu	37	3	179597885	179597885	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:179597885C>A	uc003fki.1	-	c.337G>T	c.(337-339)GAC>TAC	p.D113Y	PEX5L_uc011bqd.1_Missense_Mutation_p.D70Y|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Intron|PEX5L_uc003fkj.1_Missense_Mutation_p.D78Y|PEX5L_uc010hxd.1_Missense_Mutation_p.D111Y|PEX5L_uc011bqg.1_Missense_Mutation_p.D89Y|PEX5L_uc011bqh.1_Missense_Mutation_p.D54Y	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	113					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)						p.D113N(NCIH1299-Tumor)	648				0.315068	68.832373	71.03532	23	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179597885	179597885	12171	3	C	A	A	A	403	31	PEX5L	1	1
CCDC39	339829	broad.mit.edu	37	3	180366116	180366116	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:180366116C>A	uc010hxe.2	-	c.1199G>T	c.(1198-1200)GGT>GTT	p.G400V	CCDC39_uc003fkn.2_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	400	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)											0.510417	308.492833	308.512672	98	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180366116	180366116	2933	3	C	A	A	A	234	18	CCDC39	2	2
ATP11B	23200	broad.mit.edu	37	3	182602614	182602614	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:182602614C>G	uc003flb.2	+	c.2583C>G	c.(2581-2583)TCC>TCG	p.S861S	ATP11B_uc003flc.2_Silent_p.S445S|ATP11B_uc011bqm.1_Silent_p.S165S|ATP11B_uc010hxf.1_Silent_p.S23S	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	861	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)											0.210526	37.454867	43.349972	16	60	KEEP	---	---	---	---	capture		Silent	SNP	182602614	182602614	1139	3	C	G	G	G	262	21	ATP11B	3	3
DCUN1D1	54165	broad.mit.edu	37	3	182665025	182665025	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:182665025C>A	uc003fld.1	-	c.700_splice	c.e6+1	p.G234_splice	DCUN1D1_uc011bqn.1_Splice_Site_SNP_p.G91_splice	NM_020640	NP_065691			RP42 homolog							ubiquitin ligase complex	protein binding			ovary(1)	1	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)											0.431818	57.502852	57.683706	19	25	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	182665025	182665025	4484	3	C	A	A	A	234	18	DCUN1D1	5	2
HTR3E	285242	broad.mit.edu	37	3	183822695	183822695	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183822695C>T	uc010hxr.2	+	c.588C>T	c.(586-588)CCC>CCT	p.P196P	HTR3E_uc010hxq.2_Silent_p.P170P|HTR3E_uc003fml.3_Silent_p.P155P|HTR3E_uc003fmm.2_Silent_p.P185P|HTR3E_uc003fmn.2_Silent_p.P170P	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	170	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			Melanoma(7;227 727 6634 44770)								0.294444	152.716624	159.516972	53	127	KEEP	---	---	---	---	capture		Silent	SNP	183822695	183822695	7748	3	C	T	T	T	301	24	HTR3E	2	2
ABCF3	55324	broad.mit.edu	37	3	183911183	183911183	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183911183A>T	uc003fmz.2	+	c.1914A>T	c.(1912-1914)ACA>ACT	p.T638T	ABCF3_uc003fna.2_Silent_p.T632T|ABCF3_uc003fnb.2_Silent_p.T319T	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20),	638	ABC transporter 2.						ATP binding|ATPase activity			ovary(3)|lung(1)	4	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)											0.573684	355.607397	356.509986	109	81	KEEP	---	---	---	---	capture		Silent	SNP	183911183	183911183	68	3	A	T	T	T	54	5	ABCF3	3	3
EIF4G1	1981	broad.mit.edu	37	3	184039242	184039242	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184039242G>C	uc010hxx.2	+	c.891G>C	c.(889-891)ATG>ATC	p.M297I	EIF4G1_uc003fno.1_Missense_Mutation_p.M231I|EIF4G1_uc010hxw.1_Missense_Mutation_p.M126I|EIF4G1_uc003fnp.2_Missense_Mutation_p.M290I|EIF4G1_uc003fnt.2_Missense_Mutation_p.M1I|EIF4G1_uc003fnq.2_Missense_Mutation_p.M203I|EIF4G1_uc003fnr.2_Missense_Mutation_p.M126I|EIF4G1_uc003fns.2_Missense_Mutation_p.M250I|EIF4G1_uc010hxy.2_Missense_Mutation_p.M297I|EIF4G1_uc003fnv.3_Missense_Mutation_p.M290I|EIF4G1_uc003fnu.3_Missense_Mutation_p.M290I|EIF4G1_uc003fnw.2_Missense_Mutation_p.M297I|EIF4G1_uc003fnx.2_Missense_Mutation_p.M94I|EIF4G1_uc003fny.3_Missense_Mutation_p.M94I	NM_004953	NP_004944	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	290					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|large_intestine(1)|central_nervous_system(1)	6	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)							439				0.292308	58.599176	61.109767	19	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184039242	184039242	5227	3	G	C	C	C	585	45	EIF4G1	3	3
EPHB3	2049	broad.mit.edu	37	3	184297520	184297520	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:184297520G>A	uc003foz.2	+	c.1970G>A	c.(1969-1971)CGC>CAC	p.R657H		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	657	Cytoplasmic (Potential).|Protein kinase.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			lung(2)|breast(2)|ovary(1)|skin(1)	6	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)							292				0.085714	0.51359	6.589062	3	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	184297520	184297520	5369	3	G	A	A	A	494	38	EPHB3	1	1
ETV5	2119	broad.mit.edu	37	3	185766646	185766646	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:185766646C>A	uc003fpy.2	-	c.1441G>T	c.(1441-1443)GCT>TCT	p.A481S	ETV5_uc003fpz.2_Missense_Mutation_p.A439S	NM_004454	NP_004445	P41161	ETV5_HUMAN	ets variant gene 5 (ets-related molecule)	439	ETS.				cellular response to oxidative stress|regulation of transcription, DNA-dependent	nucleus	promoter binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(2)|breast(1)	5	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)							170				0.452381	54.423025	54.505171	19	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185766646	185766646	5475	3	C	A	A	A	338	26	ETV5	2	2
TBCCD1	55171	broad.mit.edu	37	3	186272162	186272162	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186272162C>A	uc003fqg.2	-	c.1425G>T	c.(1423-1425)ATG>ATT	p.M475I	TBCCD1_uc011bry.1_Missense_Mutation_p.M475I|TBCCD1_uc003fqh.2_Missense_Mutation_p.M379I	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	475					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			large_intestine(1)|ovary(1)	2	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)										0.266667	114.127342	122.241181	44	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186272162	186272162	16158	3	C	A	A	A	273	21	TBCCD1	2	2
HRG	3273	broad.mit.edu	37	3	186394883	186394883	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186394883C>A	uc003fqq.2	+	c.789C>A	c.(787-789)TTC>TTA	p.F263L		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	263					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)										0.369565	360.139986	365.664394	136	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186394883	186394883	7646	3	C	A	A	A	389	30	HRG	2	2
RFC4	5984	broad.mit.edu	37	3	186507930	186507930	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186507930C>G	uc003fqz.2	-	c.996_splice	c.e10+1	p.A332_splice	RFC4_uc011bsc.1_Splice_Site_SNP_p.A332_splice	NM_002916	NP_002907			replication factor C 4						cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	5	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)						599				0.682353	214.684192	217.198947	58	27	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	186507930	186507930	13718	3	C	G	G	G	247	19	RFC4	5	3
CLDN16	10686	broad.mit.edu	37	3	190126181	190126181	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:190126181T>C	uc003fsi.2	+	c.671T>C	c.(670-672)ATA>ACA	p.I224T	CLDN16_uc010hze.2_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	claudin 16	224	Extracellular (Potential).				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)										0.566372	435.633021	436.503895	128	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	190126181	190126181	3613	3	T	C	C	C	637	49	CLDN16	4	4
ATP13A4	84239	broad.mit.edu	37	3	193158420	193158420	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:193158420T>A	uc003ftd.2	-	c.2446A>T	c.(2446-2448)ATC>TTC	p.I816F	ATP13A4_uc003fte.1_Missense_Mutation_p.I816F|ATP13A4_uc011bsr.1_Missense_Mutation_p.I287F|ATP13A4_uc010hzi.2_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	816	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)										0.163636	32.384047	44.206213	18	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	193158420	193158420	1145	3	T	A	A	A	650	50	ATP13A4	3	3
CPN2	1370	broad.mit.edu	37	3	194062798	194062798	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:194062798C>A	uc003fts.2	-	c.634G>T	c.(634-636)GTG>TTG	p.V212L		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	212	LRR 5.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)										0.152174	11.896994	17.224976	7	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	194062798	194062798	3948	3	C	A	A	A	221	17	CPN2	2	2
CPN2	1370	broad.mit.edu	37	3	194062982	194062982	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:194062982G>T	uc003fts.2	-	c.450C>A	c.(448-450)CTC>CTA	p.L150L		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	150	LRR 3.				protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)										0.716667	127.234213	129.758976	43	17	KEEP	---	---	---	---	capture		Silent	SNP	194062982	194062982	3948	3	G	T	T	T	522	41	CPN2	2	2
KCNH8	131096	broad.mit.edu	37	3	19554502	19554502	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:19554502C>A	uc003cbk.1	+	c.2120C>A	c.(2119-2121)CCA>CAA	p.P707Q	KCNH8_uc010hex.1_Missense_Mutation_p.P168Q	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	707	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity			ovary(1)	1						NSCLC(124;1625 1765 8018 24930 42026)								0.276316	113.481862	120.329547	42	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19554502	19554502	8343	3	C	A	A	A	273	21	KCNH8	2	2
ZNF385D	79750	broad.mit.edu	37	3	21478514	21478514	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:21478514C>A	uc003cce.2	-	c.621G>T	c.(619-621)TCG>TCT	p.S207S	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	207	Matrin-type 2.					nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(1)	3														0.259259	122.24269	132.130439	49	140	KEEP	---	---	---	---	capture		Silent	SNP	21478514	21478514	18470	3	C	A	A	A	340	27	ZNF385D	1	1
CNOT10	25904	broad.mit.edu	37	3	32761609	32761609	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:32761609G>T	uc011axj.1	+	c.928G>T	c.(928-930)GCA>TCA	p.A310S	CNOT10_uc011axi.1_Missense_Mutation_p.A22S|CNOT10_uc003cfc.1_Missense_Mutation_p.A250S|CNOT10_uc003cfd.1_Missense_Mutation_p.A249S|CNOT10_uc003cfe.1_Missense_Mutation_p.A250S|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_Intron	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	250					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)	1														0.295918	79.824839	83.484669	29	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32761609	32761609	3756	3	G	T	T	T	494	38	CNOT10	1	1
ARPP21	10777	broad.mit.edu	37	3	35748563	35748563	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:35748563G>C	uc011axy.1	+	c.784G>C	c.(784-786)GAA>CAA	p.E262Q	ARPP21_uc003cga.2_Missense_Mutation_p.E262Q|ARPP21_uc003cgb.2_Missense_Mutation_p.E262Q|ARPP21_uc003cgf.2_Missense_Mutation_p.E98Q	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	262						cytoplasm	nucleic acid binding			ovary(2)	2														0.355705	169.780168	172.492985	53	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35748563	35748563	996	3	G	C	C	C	429	33	ARPP21	3	3
MLH1	4292	broad.mit.edu	37	3	37070415	37070415	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:37070415G>A	uc003cgl.2	+	c.1550G>A	c.(1549-1551)GGA>GAA	p.G517E	MLH1_uc011aye.1_Missense_Mutation_p.G276E|MLH1_uc011ayb.1_Missense_Mutation_p.G276E|MLH1_uc010hge.2_Missense_Mutation_p.G517E|MLH1_uc003cgn.3_Missense_Mutation_p.G276E|MLH1_uc011ayc.1_Missense_Mutation_p.G419E|MLH1_uc011ayd.1_Missense_Mutation_p.G276E|MLH1_uc003cgo.2_Missense_Mutation_p.G276E|MLH1_uc010hgi.1_Missense_Mutation_p.G159E|MLH1_uc010hgj.1_Missense_Mutation_p.G159E|MLH1_uc010hgk.2_Missense_Mutation_p.G159E|MLH1_uc010hgl.1_Missense_Mutation_p.G92E|MLH1_uc010hgn.2_Missense_Mutation_p.G159E|MLH1_uc010hgm.2_Non-coding_Transcript|MLH1_uc010hgo.2_Missense_Mutation_p.G159E	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	517	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|skin(2)|prostate(2)|NS(1)	73								1		349				0.086486	9.334319	105.414943	48	507	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37070415	37070415	10007	3	G	A	A	A	533	41	MLH1	2	2
SCN5A	6331	broad.mit.edu	37	3	38640459	38640459	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38640459G>A	uc003cio.2	-	c.1973C>T	c.(1972-1974)GCA>GTA	p.A658V	SCN5A_uc003cin.2_Missense_Mutation_p.A658V|SCN5A_uc003cil.3_Missense_Mutation_p.A658V|SCN5A_uc010hhi.2_Missense_Mutation_p.A658V|SCN5A_uc010hhk.2_Missense_Mutation_p.A658V|SCN5A_uc011ayr.1_Missense_Mutation_p.A658V|SCN5A_uc010hhj.1_Missense_Mutation_p.A269V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	658					blood circulation|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|central_nervous_system(1)	7	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)									0.051282	-14.710477	10.208604	6	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38640459	38640459	14404	3	G	A	A	A	598	46	SCN5A	2	2
SCN10A	6336	broad.mit.edu	37	3	38739454	38739454	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38739454G>T	uc003ciq.2	-	c.5257C>A	c.(5257-5259)CCA>ACA	p.P1753T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1753					sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)									0.310458	254.38969	264.19606	95	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38739454	38739454	14394	3	G	T	T	T	559	43	SCN10A	2	2
SCN11A	11280	broad.mit.edu	37	3	38889099	38889099	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38889099A>T	uc011ays.1	-	c.4462T>A	c.(4462-4464)TTT>ATT	p.F1488I		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1488	IV.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)									0.393443	71.99182	72.596456	24	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38889099	38889099	14395	3	A	T	T	T	39	3	SCN11A	3	3
SCN11A	11280	broad.mit.edu	37	3	38941498	38941498	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:38941498A>C	uc011ays.1	-	c.1909T>G	c.(1909-1911)TTT>GTT	p.F637V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	637	II.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)									0.084034	0.55521	21.471245	10	109	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38941498	38941498	14395	3	A	C	C	C	39	3	SCN11A	4	4
XIRP1	165904	broad.mit.edu	37	3	39227079	39227079	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39227079G>T	uc003cjk.1	-	c.3858C>A	c.(3856-3858)CCC>CCA	p.P1286P	XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_5'UTR	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1286	Pro-rich.						actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)										0.572917	176.94054	177.387112	55	41	KEEP	---	---	---	---	capture		Silent	SNP	39227079	39227079	18010	3	G	T	T	T	548	43	XIRP1	2	2
XIRP1	165904	broad.mit.edu	37	3	39228033	39228033	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:39228033C>T	uc003cjk.1	-	c.2904G>A	c.(2902-2904)GAG>GAA	p.E968E	XIRP1_uc003cji.2_Silent_p.E968E|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	968							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)										0.241935	77.891601	85.422931	30	94	KEEP	---	---	---	---	capture		Silent	SNP	39228033	39228033	18010	3	C	T	T	T	415	32	XIRP1	2	2
ZNF621	285268	broad.mit.edu	37	3	40573774	40573774	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:40573774G>T	uc003ckm.2	+	c.513G>T	c.(511-513)ATG>ATT	p.M171I	ZNF621_uc003ckn.2_Missense_Mutation_p.M171I|ZNF621_uc003cko.2_Missense_Mutation_p.M136I|ZNF621_uc011aze.1_Missense_Mutation_p.M163I	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	171	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)										0.309524	103.557669	107.643183	39	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40573774	40573774	18640	3	G	T	T	T	585	45	ZNF621	2	2
TRAK1	22906	broad.mit.edu	37	3	42242491	42242491	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42242491G>A	uc003cky.2	+	c.1372G>A	c.(1372-1374)GTC>ATC	p.V458I	TRAK1_uc011azh.1_Missense_Mutation_p.V458I|TRAK1_uc011azi.1_Missense_Mutation_p.V458I|TRAK1_uc003ckz.3_Missense_Mutation_p.V384I|TRAK1_uc011azj.1_Missense_Mutation_p.V384I|TRAK1_uc003cla.2_Missense_Mutation_p.V400I	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	458	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GBM(44;195 884 22595 31865 41850)								0.38806	138.743694	140.221041	52	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42242491	42242491	16993	3	G	A	A	A	520	40	TRAK1	1	1
CHL1	10752	broad.mit.edu	37	3	424321	424321	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:424321C>A	uc003bot.2	+	c.2143C>A	c.(2143-2145)CAG>AAG	p.Q715K	CHL1_uc003bou.2_Missense_Mutation_p.Q699K|CHL1_uc003bow.1_Missense_Mutation_p.Q699K|CHL1_uc011asi.1_Missense_Mutation_p.Q715K	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	699	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				0.336735	95.544455	97.855339	33	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	424321	424321	3483	3	C	A	A	A	273	21	CHL1	2	2
KBTBD5	131377	broad.mit.edu	37	3	42727276	42727276	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:42727276C>T	uc003clv.1	+	c.166C>T	c.(166-168)CCC>TCC	p.P56S		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	56	BTB.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)										0.625	16.877276	16.987264	5	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42727276	42727276	8301	3	C	T	T	T	286	22	KBTBD5	2	2
SUMF1	285362	broad.mit.edu	37	3	4418015	4418015	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:4418015C>A	uc003bpz.1	-	c.1013G>T	c.(1012-1014)AGG>ATG	p.R338M	SUMF1_uc003bps.1_Non-coding_Transcript|SUMF1_uc011ass.1_Missense_Mutation_p.R313M|SUMF1_uc010hby.1_Intron|SUMF1_uc011ast.1_Missense_Mutation_p.R206M	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1 isoform 1	338					oxidation-reduction process	endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity				0		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)										0.619632	1317.429558	1325.614658	404	248	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4418015	4418015	15905	3	C	A	A	A	312	24	SUMF1	2	2
KIF15	56992	broad.mit.edu	37	3	44839103	44839103	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44839103G>T	uc003cnx.3	+	c.910G>T	c.(910-912)GAC>TAC	p.D304Y	KIF15_uc010hiq.2_Missense_Mutation_p.D207Y|KIF15_uc003cny.1_5'Flank	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	304					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)										0.6	463.944577	466.019365	141	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44839103	44839103	8588	3	G	T	T	T	481	37	KIF15	1	1
KIF15	56992	broad.mit.edu	37	3	44869002	44869002	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:44869002G>T	uc003cnx.3	+	c.2838G>T	c.(2836-2838)ACG>ACT	p.T946T	KIF15_uc010hiq.2_Silent_p.T849T|KIF15_uc010hir.2_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	946	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)										0.560606	121.482567	121.693797	37	29	KEEP	---	---	---	---	capture		Silent	SNP	44869002	44869002	8588	3	G	T	T	T	496	39	KIF15	1	1
CDCP1	64866	broad.mit.edu	37	3	45132961	45132961	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:45132961C>T	uc003com.2	-	c.1697G>A	c.(1696-1698)CGG>CAG	p.R566Q		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	CUB domain-containing protein 1 isoform 1	566	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)										0.578947	69.909071	70.109317	22	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45132961	45132961	3222	3	C	T	T	T	299	23	CDCP1	1	1
FBXW12	285231	broad.mit.edu	37	3	48423302	48423302	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48423302C>A	uc003csr.2	+	c.1098C>A	c.(1096-1098)TTC>TTA	p.F366L	FBXW12_uc010hjv.2_Missense_Mutation_p.F347L|FBXW12_uc003css.2_Missense_Mutation_p.F296L|FBXW12_uc010hjw.2_Missense_Mutation_p.F265L	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12 isoform	366	WD 4.										0				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)										0.345794	102.237024	104.486195	37	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48423302	48423302	6002	3	C	A	A	A	376	29	FBXW12	2	2
COL7A1	1294	broad.mit.edu	37	3	48627953	48627953	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48627953C>A	uc003ctz.2	-	c.1845G>T	c.(1843-1845)AGG>AGT	p.R615S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	615	Nonhelical region (NC1).|Fibronectin type-III 5.				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)										0.170213	13.281063	18.110841	8	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48627953	48627953	3842	3	C	A	A	A	285	22	COL7A1	2	2
CELSR3	1951	broad.mit.edu	37	3	48697556	48697556	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48697556G>T	uc003cuf.1	-	c.2722C>A	c.(2722-2724)CTT>ATT	p.L908I	CELSR3_uc003cul.2_Missense_Mutation_p.L838I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	838	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)										0.284444	165.39813	174.795557	64	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48697556	48697556	3356	3	G	T	T	T	455	35	CELSR3	2	2
ARIH2	10425	broad.mit.edu	37	3	48965034	48965034	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:48965034G>T	uc003cvb.2	+	c.43G>T	c.(43-45)GAG>TAG	p.E15*	ARIH2_uc003cvc.2_Nonsense_Mutation_p.E15*|ARIH2_uc003cvf.2_5'UTR|ARIH2_uc010hkl.2_Nonsense_Mutation_p.E15*|ARIH2_uc003cvd.1_Nonsense_Mutation_p.E15*|ARIH2_uc003cve.1_Nonsense_Mutation_p.E15*	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	15	Asp/Glu-rich (acidic).				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)										0.408163	53.273154	53.638167	20	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48965034	48965034	939	3	G	T	T	T	429	33	ARIH2	5	2
BSN	8927	broad.mit.edu	37	3	49689788	49689788	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49689788C>A	uc003cxe.3	+	c.2799C>A	c.(2797-2799)ACC>ACA	p.T933T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	933					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	zinc ion binding			ovary(5)|central_nervous_system(1)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)										0.303922	81.442078	84.970573	31	71	KEEP	---	---	---	---	capture		Silent	SNP	49689788	49689788	1561	3	C	A	A	A	262	21	BSN	2	2
RBM6	10180	broad.mit.edu	37	3	50085713	50085713	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50085713G>T	uc003cyc.2	+	c.1593G>T	c.(1591-1593)CTG>CTT	p.L531L	RBM6_uc011bdh.1_Non-coding_Transcript|RBM6_uc010hlc.1_Silent_p.L50L|RBM6_uc003cyd.2_Silent_p.L9L|RBM6_uc003cye.2_Silent_p.L9L|RBM6_uc011bdi.1_Intron|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	531	RRM.				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)										0.280702	41.674009	44.139728	16	41	KEEP	---	---	---	---	capture		Silent	SNP	50085713	50085713	13606	3	G	T	T	T	600	47	RBM6	2	2
SEMA3F	6405	broad.mit.edu	37	3	50223738	50223738	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50223738G>T	uc003cyj.2	+	c.1770G>T	c.(1768-1770)CGG>CGT	p.R590R	SEMA3F_uc003cyk.2_Silent_p.R559R	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	590					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)										0.266667	10.100718	10.833671	4	11	KEEP	---	---	---	---	capture		Silent	SNP	50223738	50223738	14515	3	G	T	T	T	535	42	SEMA3F	2	2
HYAL2	8692	broad.mit.edu	37	3	50357134	50357134	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:50357134G>C	uc003czu.2	-	c.787C>G	c.(787-789)CAT>GAT	p.H263D	HYAL2_uc003czx.2_Missense_Mutation_p.H263D|HYAL2_uc003czv.2_Missense_Mutation_p.H263D|HYAL2_uc003czw.2_Missense_Mutation_p.H263D|HYAL2_uc010hlj.2_Missense_Mutation_p.H263D	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2 precursor	263						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)									0.428571	13.5305	13.595648	6	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50357134	50357134	7764	3	G	C	C	C	611	47	HYAL2	3	3
GRM2	2912	broad.mit.edu	37	3	51749542	51749542	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51749542G>A	uc010hlv.2	+	c.1753G>A	c.(1753-1755)GTG>ATG	p.V585M	GRM2_uc003dbo.3_De_novo_Start_InFrame|GRM2_uc010hlu.2_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	585	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)									0.113208	11.427564	27.075611	12	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51749542	51749542	7076	3	G	A	A	A	624	48	GRM2	2	2
IQCF3	401067	broad.mit.edu	37	3	51864588	51864588	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51864588G>A	uc010hlx.1	+	c.236G>A	c.(235-237)CGG>CAG	p.R79Q	IQCF1_uc003dbq.3_Intron|IQCF3_uc010hlw.1_Non-coding_Transcript|IQCF3_uc011bdw.1_Non-coding_Transcript	NM_001085479	NP_001078948	P0C7M6	IQCF3_HUMAN	IQ motif containing F3	79										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)										0.446602	140.993589	141.238572	46	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51864588	51864588	8110	3	G	A	A	A	507	39	IQCF3	1	1
DNAH1	25981	broad.mit.edu	37	3	52392660	52392660	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52392660C>T	uc011bef.1	+	c.4173C>T	c.(4171-4173)TCC>TCT	p.S1391S		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1391	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)										0.434783	30.846498	30.931804	10	13	KEEP	---	---	---	---	capture		Silent	SNP	52392660	52392660	4779	3	C	T	T	T	262	21	DNAH1	2	2
SEMA3G	56920	broad.mit.edu	37	3	52475604	52475604	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52475604T>C	uc003dea.1	-	c.653A>G	c.(652-654)CAG>CGG	p.Q218R		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	semaphorin sem2 precursor	218	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)										0.651163	91.107742	91.97424	28	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52475604	52475604	14516	3	T	C	C	C	715	55	SEMA3G	4	4
STAB1	23166	broad.mit.edu	37	3	52558144	52558144	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52558144C>A	uc003dej.2	+	c.7571C>A	c.(7570-7572)TCA>TAA	p.S2524*	STAB1_uc003del.2_Nonsense_Mutation_p.S436*	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	2524	Cytoplasmic (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)										0.32	19.486834	20.208983	8	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52558144	52558144	15755	3	C	A	A	A	377	29	STAB1	5	2
RFT1	91869	broad.mit.edu	37	3	53126615	53126615	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:53126615C>G	uc003dgj.2	-	c.1228G>C	c.(1228-1230)GCC>CCC	p.A410P	RFT1_uc003dgk.2_Missense_Mutation_p.A371P	NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	RFT1 homolog	410	Helical; (Potential).				carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity				0				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)										0.392857	72.139029	72.701574	22	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53126615	53126615	13729	3	C	G	G	G	338	26	RFT1	3	3
CACNA1D	776	broad.mit.edu	37	3	53707833	53707833	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:53707833G>T	uc003dgu.3	+	c.1210G>T	c.(1210-1212)GTC>TTC	p.V404F	CACNA1D_uc003dgv.3_Intron|CACNA1D_uc003dgy.3_Intron|CACNA1D_uc003dgw.3_Intron	NM_000720	NP_000711	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	404	Helical; Name=S6 of repeat I; (Potential).|I.				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|liver(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)									0.260417	68.633006	73.620021	25	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53707833	53707833	2657	3	G	T	T	T	624	48	CACNA1D	2	2
CACNA1D	776	broad.mit.edu	37	3	53809960	53809960	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:53809960C>G	uc003dgu.3	+	c.4310C>G	c.(4309-4311)CCA>CGA	p.P1437R	CACNA1D_uc003dgv.3_Missense_Mutation_p.P1417R|CACNA1D_uc003dgy.3_Missense_Mutation_p.P1402R|CACNA1D_uc003dgw.3_Missense_Mutation_p.P1084R|CACNA1D_uc003dgx.1_Missense_Mutation_p.P593R	NM_000720	NP_000711	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1417	IV.|Extracellular (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|liver(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)									0.086207	-0.554664	39.963478	20	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53809960	53809960	2657	3	C	G	G	G	273	21	CACNA1D	3	3
CACNA2D3	55799	broad.mit.edu	37	3	55043458	55043458	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:55043458A>G	uc003dhf.2	+	c.2863A>G	c.(2863-2865)ATG>GTG	p.M955V	CACNA2D3_uc003dhg.1_Missense_Mutation_p.M861V|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	955	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)										0.27027	145.679036	154.479213	50	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55043458	55043458	2666	3	A	G	G	G	208	16	CACNA2D3	4	4
CCDC66	285331	broad.mit.edu	37	3	56627994	56627994	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:56627994C>T	uc003dhz.2	+	c.1342C>T	c.(1342-1344)CTC>TTC	p.L448F	CCDC66_uc003dhy.2_Missense_Mutation_p.L84F|CCDC66_uc003dhu.2_Missense_Mutation_p.L414F|CCDC66_uc003dhx.2_Non-coding_Transcript	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	448										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)										0.2657	148.444256	158.704475	55	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56627994	56627994	2961	3	C	T	T	T	416	32	CCDC66	2	2
SYNPR	132204	broad.mit.edu	37	3	63466559	63466559	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:63466559C>A	uc003dlp.2	+	c.136C>A	c.(136-138)CGG>AGG	p.R46R	SYNPR_uc011bfk.1_Intron|SYNPR_uc011bfl.1_Non-coding_Transcript|SYNPR_uc003dlq.2_Silent_p.R26R|SYNPR_uc010hnt.2_Silent_p.R35R|SYNPR_uc011bfm.1_Non-coding_Transcript	NM_001130003	NP_001123475	Q8TBG9	SYNPR_HUMAN	synaptoporin isoform 1	26	MARVEL.|Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		NSCLC(29;1052 1116 20025 32519)								0.405488	393.516914	396.072626	133	195	KEEP	---	---	---	---	capture		Silent	SNP	63466559	63466559	15980	3	C	A	A	A	347	27	SYNPR	1	1
ADAMTS9	56999	broad.mit.edu	37	3	64644259	64644259	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:64644259T>G	uc003dmg.2	-	c.888A>C	c.(886-888)GAA>GAC	p.E296D	ADAMTS9_uc011bfo.1_Missense_Mutation_p.E296D|ADAMTS9_uc003dmh.1_Missense_Mutation_p.E125D|ADAMTS9_uc003dmk.1_Missense_Mutation_p.E296D	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	296	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)	3		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)										0.032609	-52.175391	13.718163	9	267	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64644259	64644259	274	3	T	G	G	G	725	56	ADAMTS9	4	4
ADAMTS9	56999	broad.mit.edu	37	3	64672312	64672312	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:64672312A>T	uc003dmg.2	-	c.448T>A	c.(448-450)TGT>AGT	p.C150S	ADAMTS9_uc011bfo.1_Missense_Mutation_p.C150S|ADAMTS9_uc003dmh.1_5'UTR|ADAMTS9_uc003dmk.1_Missense_Mutation_p.C150S	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	150					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)	3		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)										0.190476	18.176725	21.937241	8	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64672312	64672312	274	3	A	T	T	T	91	7	ADAMTS9	3	3
MAGI1	9223	broad.mit.edu	37	3	65342156	65342156	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:65342156C>A	uc003dmn.2	-	c.4286G>T	c.(4285-4287)AGG>ATG	p.R1429M	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1458					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)										0.308123	287.283984	299.019672	110	247	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65342156	65342156	9573	3	C	A	A	A	312	24	MAGI1	2	2
KBTBD8	84541	broad.mit.edu	37	3	67054199	67054199	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:67054199C>T	uc003dmy.2	+	c.808C>T	c.(808-810)CCA>TCA	p.P270S	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	270										ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)										0.317708	165.518711	171.184411	61	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67054199	67054199	8304	3	C	T	T	T	234	18	KBTBD8	2	2
FAM19A1	407738	broad.mit.edu	37	3	68055822	68055822	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:68055822G>T	uc003dnd.2	+	c.53G>T	c.(52-54)TGT>TTT	p.C18F	FAM19A1_uc003dne.2_Missense_Mutation_p.C18F|FAM19A1_uc003dng.2_Missense_Mutation_p.C18F|FAM19A1_uc003dnf.1_Non-coding_Transcript	NM_213609	NP_998774	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine	18						endoplasmic reticulum|extracellular region				ovary(1)	1		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)										0.591049	1250.848155	1255.601345	383	265	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68055822	68055822	5745	3	G	T	T	T	624	48	FAM19A1	2	2
GRM7	2917	broad.mit.edu	37	3	6903105	6903105	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:6903105C>A	uc003bql.2	+	c.30C>A	c.(28-30)GTC>GTA	p.V10V	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.V10V|GRM7_uc003bqm.2_Silent_p.V10V	NM_181874	NP_870989	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform b	10					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)	4					L-Glutamic Acid(DB00142)									0.227273	11.262717	12.765373	5	17	KEEP	---	---	---	---	capture		Silent	SNP	6903105	6903105	7081	3	C	A	A	A	379	30	GRM7	2	2
UBA3	9039	broad.mit.edu	37	3	69105182	69105182	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:69105182A>G	uc003dno.2	-	c.1217T>C	c.(1216-1218)CTA>CCA	p.L406P	UBA3_uc003dnq.2_Missense_Mutation_p.L392P|UBA3_uc011bfy.1_Missense_Mutation_p.L229P|UBA3_uc011bfz.1_Missense_Mutation_p.L229P	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	ubiquitin-activating enzyme 3 isoform 1	406	Interaction with UBE2M core domain.				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)										0.093023	2.865656	10.032911	4	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69105182	69105182	17386	3	A	G	G	G	195	15	UBA3	4	4
FRMD4B	23150	broad.mit.edu	37	3	69225773	69225773	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:69225773G>A	uc003dnv.2	-	c.2886C>T	c.(2884-2886)ACC>ACT	p.T962T	FRMD4B_uc003dnw.2_Non-coding_Transcript|FRMD4B_uc003dnu.2_Silent_p.T614T|FRMD4B_uc011bga.1_Silent_p.T806T	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	962						cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)										0.383562	85.18101	86.049388	28	45	KEEP	---	---	---	---	capture		Silent	SNP	69225773	69225773	6302	3	G	A	A	A	548	43	FRMD4B	2	2
MITF	4286	broad.mit.edu	37	3	70014048	70014048	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:70014048G>T	uc003dnz.2	+	c.1212G>T	c.(1210-1212)ACG>ACT	p.T404T	MITF_uc011bgb.1_Silent_p.T352T|MITF_uc003doa.2_Silent_p.T403T|MITF_uc003dob.2_Silent_p.T388T|MITF_uc003dod.2_Silent_p.T379T|MITF_uc003doe.2_Silent_p.T297T|MITF_uc003dof.2_Silent_p.T303T	NM_198159	NP_937802	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	410	DNA binding regulation.				melanocyte differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription activator activity			ovary(2)	2		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		Melanoma(29;269 969 31479 41502 42961)				237				0.628205	323.439982	325.729636	98	58	KEEP	---	---	---	---	capture		Silent	SNP	70014048	70014048	9986	3	G	T	T	T	496	39	MITF	1	1
GPR27	2850	broad.mit.edu	37	3	71804187	71804187	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:71804187G>T	uc011bge.1	+	c.987G>T	c.(985-987)GCG>GCT	p.A329A	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	329	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)										0.6	65.263645	65.56719	21	14	KEEP	---	---	---	---	capture		Silent	SNP	71804187	71804187	6960	3	G	T	T	T	483	38	GPR27	1	1
RYBP	23429	broad.mit.edu	37	3	72427727	72427727	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:72427727C>A	uc003dpe.2	-	c.466G>T	c.(466-468)GTC>TTC	p.V156F		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	166	Interaction with E4TF1B.				apoptosis|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding				0		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)										0.342857	213.067074	217.633682	72	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72427727	72427727	14246	3	C	A	A	A	247	19	RYBP	1	1
PDZRN3	23024	broad.mit.edu	37	3	73440205	73440205	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:73440205C>T	uc003dpl.1	-	c.1317G>A	c.(1315-1317)ACG>ACA	p.T439T	PDZRN3_uc011bgh.1_Silent_p.T96T|PDZRN3_uc010hoe.1_Silent_p.T137T|PDZRN3_uc011bgf.1_Silent_p.T156T|PDZRN3_uc011bgg.1_Silent_p.T159T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	439	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|pancreas(2)|large_intestine(1)	5		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)										0.292308	270.745118	283.2698	95	230	KEEP	---	---	---	---	capture		Silent	SNP	73440205	73440205	12130	3	C	T	T	T	288	23	PDZRN3	1	1
CNTN3	5067	broad.mit.edu	37	3	74350660	74350660	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:74350660C>G	uc003dpm.1	-	c.1984G>C	c.(1984-1986)GTA>CTA	p.V662L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	662	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)	4		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)										0.574468	182.452566	182.905351	54	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74350660	74350660	3780	3	C	G	G	G	221	17	CNTN3	3	3
GRM7	2917	broad.mit.edu	37	3	7620674	7620674	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:7620674C>A	uc003bql.2	+	c.2081C>A	c.(2080-2082)CCC>CAC	p.P694H	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.P694H|GRM7_uc003bqm.2_Missense_Mutation_p.P694H|GRM7_uc003bqn.1_Missense_Mutation_p.P277H|GRM7_uc010hch.1_Missense_Mutation_p.P205H	NM_181874	NP_870989	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform b	694	Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)	4					L-Glutamic Acid(DB00142)									0.681818	147.594835	149.532949	45	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7620674	7620674	7081	3	C	A	A	A	286	22	GRM7	2	2
ROBO2	6092	broad.mit.edu	37	3	77651625	77651625	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77651625A>T	uc003dpz.2	+	c.3131A>T	c.(3130-3132)CAG>CTG	p.Q1044L	ROBO2_uc003dpy.3_Missense_Mutation_p.Q1040L|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Missense_Mutation_p.Q1044L|ROBO2_uc003dqa.2_Missense_Mutation_p.Q167L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	1040	Cytoplasmic (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|ovary(1)|large_intestine(1)|liver(1)	8				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)						1049				0.627119	250.855465	252.525017	74	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77651625	77651625	13993	3	A	T	T	T	91	7	ROBO2	3	3
ROBO1	6091	broad.mit.edu	37	3	78680311	78680311	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:78680311C>G	uc003dqe.2	-	c.3626G>C	c.(3625-3627)AGC>ACC	p.S1209T	ROBO1_uc003dqb.2_Missense_Mutation_p.S1170T|ROBO1_uc003dqc.2_Missense_Mutation_p.S1109T|ROBO1_uc003dqd.2_Missense_Mutation_p.S1164T|ROBO1_uc010hoh.2_Missense_Mutation_p.S401T|ROBO1_uc011bgl.1_Missense_Mutation_p.S781T	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1209	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)						693				0.288136	39.847793	42.224982	17	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78680311	78680311	13992	3	C	G	G	G	312	24	ROBO1	3	3
ROBO1	6091	broad.mit.edu	37	3	79174657	79174657	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:79174657C>A	uc003dqe.2	-	c.121G>T	c.(121-123)GGG>TGG	p.G41W		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	41	Extracellular (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)					p.G41R(U87MG-Tumor)	693				0.271318	92.505735	98.566225	35	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79174657	79174657	13992	3	C	A	A	A	299	23	ROBO1	1	1
GBE1	2632	broad.mit.edu	37	3	81720077	81720077	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:81720077T>C	uc003dqg.2	-	c.341A>G	c.(340-342)TAC>TGC	p.Y114C	GBE1_uc011bgm.1_Missense_Mutation_p.Y73C	NM_000158	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	114					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)										0.322581	65.782742	67.513228	20	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81720077	81720077	6536	3	T	C	C	C	741	57	GBE1	4	4
EPHA3	2042	broad.mit.edu	37	3	89391202	89391202	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:89391202G>A	uc003dqy.2	+	c.1268G>A	c.(1267-1269)AGA>AAA	p.R423K	EPHA3_uc003dqx.1_Missense_Mutation_p.R423K|EPHA3_uc010hon.1_Non-coding_Transcript	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	423	Extracellular (Potential).|Fibronectin type-III 1.				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding			lung(15)|ovary(7)|large_intestine(4)|central_nervous_system(2)|pancreas(1)	29	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)						416	TSP Lung(6;0.00050)			0.349593	127.788872	130.243651	43	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89391202	89391202	5361	3	G	A	A	A	429	33	EPHA3	2	2
SRGAP3	9901	broad.mit.edu	37	3	9106199	9106199	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9106199C>A	uc003brf.1	-	c.553G>T	c.(553-555)GAG>TAG	p.E185*	SRGAP3_uc003brg.1_Nonsense_Mutation_p.E185*|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brk.2_Nonsense_Mutation_p.E185*|SRGAP3_uc003brj.1_Nonsense_Mutation_p.E45*	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	185					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|urinary_tract(1)|breast(1)	6				OV - Ovarian serous cystadenocarcinoma(96;0.0563)										0.285714	96.48491	101.972847	38	95	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	9106199	9106199	15661	3	C	A	A	A	377	29	SRGAP3	5	2
EPHA6	285220	broad.mit.edu	37	3	96706580	96706580	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:96706580G>C	uc010how.1	+	c.857G>C	c.(856-858)GGG>GCG	p.G286A	EPHA6_uc003drp.1_Missense_Mutation_p.G286A	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	191	Ephrin-binding.|Extracellular (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(3)|lung(3)|stomach(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	12										480				0.301994	552.719212	577.25071	212	490	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96706580	96706580	5364	3	G	C	C	C	559	43	EPHA6	3	3
MINA	84864	broad.mit.edu	37	3	97677986	97677986	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97677986C>G	uc003drz.1	-	c.590G>C	c.(589-591)CGC>CCC	p.R197P	MINA_uc003dsa.1_Missense_Mutation_p.R197P|MINA_uc003dsb.1_Missense_Mutation_p.R197P|MINA_uc003dsc.1_Missense_Mutation_p.R197P|MINA_uc010hpa.1_Non-coding_Transcript|MINA_uc010hpb.1_Non-coding_Transcript	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	197	JmjC.				ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1														0.507937	101.897233	101.900748	32	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97677986	97677986	9976	3	C	G	G	G	351	27	MINA	3	3
OR5AC2	81050	broad.mit.edu	37	3	97806572	97806572	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97806572C>T	uc011bgs.1	+	c.556C>T	c.(556-558)CTG>TTG	p.L186L		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.529412	256.39748	256.507473	81	72	KEEP	---	---	---	---	capture		Silent	SNP	97806572	97806572	11551	3	C	T	T	T	259	20	OR5AC2	2	2
OGG1	4968	broad.mit.edu	37	3	9792631	9792631	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9792631G>T	uc003bsm.2	+	c.140G>T	c.(139-141)TGG>TTG	p.W47L	OGG1_uc003bsh.2_Missense_Mutation_p.W47L|OGG1_uc003bsi.2_Missense_Mutation_p.W47L|OGG1_uc003bsj.2_Missense_Mutation_p.W47L|OGG1_uc003bsk.2_Missense_Mutation_p.W47L|OGG1_uc003bsl.2_Missense_Mutation_p.W47L|OGG1_uc003bsn.2_Missense_Mutation_p.W47L|OGG1_uc003bso.2_Missense_Mutation_p.W47L|OGG1_uc003bsp.1_5'Flank|OGG1_uc010hcm.1_5'Flank|OGG1_uc003bsq.1_5'Flank|OGG1_uc003bsr.1_5'Flank	NM_016821	NP_058214	O15527	OGG1_HUMAN	8-oxoguanine DNA-glycosylase 1 isoform 2a	47				W -> WW (in Ref. 9; CAA10351).	depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding				0	Medulloblastoma(99;0.227)									40				0.275862	40.97253	43.597813	16	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9792631	9792631	11250	3	G	T	T	T	611	47	OGG1	2	2
OR5H2	79310	broad.mit.edu	37	3	98001903	98001903	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98001903C>G	uc003dsj.1	+	c.172C>G	c.(172-174)CCA>GCA	p.P58A		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	58	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3														0.535176	662.166816	662.592895	213	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98001903	98001903	11572	3	C	G	G	G	286	22	OR5H2	3	3
RPUSD3	285367	broad.mit.edu	37	3	9880781	9880781	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:9880781G>A	uc011atk.1	-	c.799C>T	c.(799-801)CGT>TGT	p.R267C	ARPC4_uc003btc.1_Intron|RPUSD3_uc011atl.1_Missense_Mutation_p.R252C	NM_173659	NP_775930	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	267					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(1)	1	Medulloblastoma(99;0.227)													0.066667	-4.244889	16.177239	7	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9880781	9880781	14148	3	G	A	A	A	507	39	RPUSD3	1	1
ADH4	127	broad.mit.edu	37	4	100063887	100063887	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100063887G>T	uc003hun.2	-	c.63C>A	c.(61-63)CCC>CCA	p.P21P	ADH4_uc011ced.1_Silent_p.P40P	NM_000670	NP_000661	P08319	ADH4_HUMAN	class II alcohol dehydrogenase, pi subunit	21					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)									0.55814	78.205284	78.332019	24	19	KEEP	---	---	---	---	capture		Silent	SNP	100063887	100063887	311	4	G	T	T	T	548	43	ADH4	2	2
ADH6	130	broad.mit.edu	37	4	100129911	100129911	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100129911T>G	uc003huo.2	-	c.742A>C	c.(742-744)AAG>CAG	p.K248Q	ADH6_uc011cef.1_Missense_Mutation_p.K39Q|ADH6_uc003hup.3_Missense_Mutation_p.K248Q|ADH6_uc010ile.2_Missense_Mutation_p.K248Q	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	class V alcohol dehydrogenase isoform 1	248					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)									0.220044	262.834546	295.963199	101	358	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100129911	100129911	313	4	T	G	G	G	832	64	ADH6	4	4
ADH1C	126	broad.mit.edu	37	4	100260803	100260803	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:100260803G>T	uc003huu.2	-	c.1034C>A	c.(1033-1035)GCA>GAA	p.A345E		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	345					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)									0.133333	14.401626	24.186	10	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100260803	100260803	310	4	G	T	T	T	598	46	ADH1C	2	2
CENPE	1062	broad.mit.edu	37	4	104066267	104066267	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:104066267C>A	uc003hxb.1	-	c.4797G>T	c.(4795-4797)CAG>CAT	p.Q1599H	CENPE_uc003hxc.1_Missense_Mutation_p.Q1574H	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1599	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)										0.591837	93.983757	94.345197	29	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104066267	104066267	3363	4	C	A	A	A	311	24	CENPE	2	2
AGXT2L1	64850	broad.mit.edu	37	4	109684040	109684040	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:109684040G>C	uc003hzc.2	-	c.15C>G	c.(13-15)TAC>TAG	p.Y5*	AGXT2L1_uc010imc.2_Nonsense_Mutation_p.Y5*|AGXT2L1_uc011cfm.1_5'UTR|AGXT2L1_uc011cfn.1_5'UTR|AGXT2L1_uc011cfo.1_5'UTR	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	5					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)										0.673077	126.843601	128.225435	35	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	109684040	109684040	409	4	G	C	C	C	620	48	AGXT2L1	5	3
EGF	1950	broad.mit.edu	37	4	110884342	110884342	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:110884342C>T	uc003hzy.3	+	c.1326C>T	c.(1324-1326)CCC>CCT	p.P442P	EGF_uc011cfu.1_Silent_p.P400P|EGF_uc011cfv.1_Silent_p.P442P	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	442	EGF-like 4.|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				0.527778	318.65525	318.778392	95	85	KEEP	---	---	---	---	capture		Silent	SNP	110884342	110884342	5151	4	C	T	T	T	288	23	EGF	1	1
ENPEP	2028	broad.mit.edu	37	4	111397573	111397573	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:111397573G>T	uc003iab.3	+	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	1	Cytoplasmic (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)									0.602564	151.036438	151.753276	47	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111397573	111397573	5321	4	G	T	T	T	585	45	ENPEP	2	2
ENPEP	2028	broad.mit.edu	37	4	111441430	111441430	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:111441430T>A	uc003iab.3	+	c.1635T>A	c.(1633-1635)CCT>CCA	p.P545P		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	545	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)									0.220588	36.389094	41.276113	15	53	KEEP	---	---	---	---	capture		Silent	SNP	111441430	111441430	5321	4	T	A	A	A	704	55	ENPEP	3	3
ALPK1	80216	broad.mit.edu	37	4	113333030	113333030	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113333030G>T	uc003iap.3	+	c.324G>T	c.(322-324)GCG>GCT	p.A108A	ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003ian.3_Silent_p.A108A|ALPK1_uc011cfx.1_Silent_p.A30A|ALPK1_uc003iao.3_Non-coding_Transcript|ALPK1_uc003iaq.2_Silent_p.A52A|ALPK1_uc010imo.2_5'UTR|ALPK1_uc003iar.2_Silent_p.A78A	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	108	Poly-Ala.				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				0.75	19.653806	20.109039	6	2	KEEP	---	---	---	---	capture		Silent	SNP	113333030	113333030	547	4	G	T	T	T	496	39	ALPK1	1	1
ANK2	287	broad.mit.edu	37	4	114279001	114279001	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114279001A>T	uc003ibe.3	+	c.9227A>T	c.(9226-9228)CAG>CTG	p.Q3076L	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.Q378L|ANK2_uc011cgb.1_Missense_Mutation_p.Q3091L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3043					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)										0.653846	221.26866	223.427497	68	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114279001	114279001	624	4	A	T	T	T	91	7	ANK2	3	3
CAMK2D	817	broad.mit.edu	37	4	114468842	114468842	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114468842C>G	uc003ibo.3	-	c.372G>C	c.(370-372)GTG>GTC	p.V124V	CAMK2D_uc003ibi.2_Intron|CAMK2D_uc003ibj.2_Intron|CAMK2D_uc003ibk.2_Intron|CAMK2D_uc003ibm.2_Intron|CAMK2D_uc003ibn.2_Intron|CAMK2D_uc003ibl.2_Intron	NM_172114	NP_742112	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	124	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)						372		OREG0016299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.857143	20.881289	21.715264	6	1	KEEP	---	---	---	---	capture		Silent	SNP	114468842	114468842	2718	4	C	G	G	G	313	25	CAMK2D	3	3
NDST4	64579	broad.mit.edu	37	4	115767154	115767154	+	Splice_Site_SNP	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:115767154C>G	uc003ibu.2	-	c.1941_splice	c.e10-1	p.W647_splice	NDST4_uc010imw.2_Splice_Site_SNP	NM_022569	NP_072091			heparan sulfate N-deacetylase/N-sulfotransferase							Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			ovary(1)	1		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)										0.818182	93.443918	96.581999	27	6	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	115767154	115767154	10657	4	C	G	G	G	312	24	NDST4	5	3
SPON2	10417	broad.mit.edu	37	4	1165197	1165197	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:1165197G>T	uc003gcn.3	-	c.298C>A	c.(298-300)CGC>AGC	p.R100S	SPON2_uc003gco.3_Missense_Mutation_p.R100S|SPON2_uc010ibr.2_Missense_Mutation_p.R100S|SPON2_uc003gcm.1_Missense_Mutation_p.R18S	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	100	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)										0.210526	10.393875	11.86331	4	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1165197	1165197	15596	4	G	T	T	T	494	38	SPON2	1	1
FAT4	79633	broad.mit.edu	37	4	126370776	126370776	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126370776G>T	uc003ifj.3	+	c.8605G>T	c.(8605-8607)GCT>TCT	p.A2869S	FAT4_uc011cgp.1_Missense_Mutation_p.A1167S|FAT4_uc003ifi.1_Missense_Mutation_p.A347S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2869	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.632184	176.841736	178.176629	55	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126370776	126370776	5928	4	G	T	T	T	598	46	FAT4	2	2
ELF2	1998	broad.mit.edu	37	4	140046387	140046387	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:140046387C>G	uc003ihp.1	-	c.169G>C	c.(169-171)GAT>CAT	p.D57H	ELF2_uc003ihq.2_Non-coding_Transcript	NM_201999	NP_973728	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription	57					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity			ovary(1)	1	all_hematologic(180;0.162)													0.209677	34.640374	39.476306	13	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140046387	140046387	5245	4	C	G	G	G	377	29	ELF2	3	3
OTUD4	54726	broad.mit.edu	37	4	146063380	146063380	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:146063380C>A	uc003ika.3	-	c.1595G>T	c.(1594-1596)TGG>TTG	p.W532L	OTUD4_uc003ijz.3_Missense_Mutation_p.W531L	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	596							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)													0.285714	127.8978	134.844808	48	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146063380	146063380	11727	4	C	A	A	A	273	21	OTUD4	2	2
LRBA	987	broad.mit.edu	37	4	151753066	151753066	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:151753066C>G	uc010ipj.2	-	c.4632G>C	c.(4630-4632)ATG>ATC	p.M1544I	LRBA_uc003ilt.3_Missense_Mutation_p.M203I|LRBA_uc003ilu.3_Missense_Mutation_p.M1544I	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1544	Helical; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)	6	all_hematologic(180;0.151)													0.836735	130.176071	135.445286	41	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151753066	151753066	9304	4	C	G	G	G	273	21	LRBA	3	3
LRBA	987	broad.mit.edu	37	4	151849697	151849697	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:151849697T>C	uc010ipj.2	-	c.520A>G	c.(520-522)AGT>GGT	p.S174G	LRBA_uc003ilu.3_Missense_Mutation_p.S174G|LRBA_uc010ipk.1_Missense_Mutation_p.S93G	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	174						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)	6	all_hematologic(180;0.151)													0.897436	120.649815	126.786544	35	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151849697	151849697	9304	4	T	C	C	C	715	55	LRBA	4	4
RNF175	285533	broad.mit.edu	37	4	154669893	154669893	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:154669893G>T	uc003int.2	-	c.150C>A	c.(148-150)TCC>TCA	p.S50S	RNF175_uc003inu.1_5'UTR	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	50						integral to membrane	zinc ion binding			ovary(1)|pancreas(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)												0.5	27.778841	27.778841	9	9	KEEP	---	---	---	---	capture		Silent	SNP	154669893	154669893	13940	4	G	T	T	T	600	47	RNF175	2	2
SFRP2	6423	broad.mit.edu	37	4	154709985	154709985	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:154709985C>T	uc003inv.1	-	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	1					brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of gene-specific transcription|negative regulation of peptidyl-tyrosine phosphorylation|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of peptidyl-serine phosphorylation|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|transcription repressor activity|Wnt receptor activity|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)												0.727273	24.20591	24.724503	8	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154709985	154709985	14651	4	C	T	T	T	325	25	SFRP2	2	2
DCHS2	54798	broad.mit.edu	37	4	155180878	155180878	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155180878A>G	uc003inw.2	-	c.5243T>C	c.(5242-5244)CTT>CCT	p.L1748P		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1748	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)										0.66	117.090563	118.222059	33	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155180878	155180878	4459	4	A	G	G	G	39	3	DCHS2	4	4
FGA	2243	broad.mit.edu	37	4	155505620	155505620	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155505620G>T	uc003iod.1	-	c.2257C>A	c.(2257-2259)CTC>ATC	p.L753I		NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	753	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	NSCLC(143;340 1922 20892 22370 48145)								0.719424	321.64517	327.65618	100	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155505620	155505620	6067	4	G	T	T	T	455	35	FGA	2	2
FGA	2243	broad.mit.edu	37	4	155506864	155506864	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155506864G>T	uc003iod.1	-	c.1717C>A	c.(1717-1719)CGT>AGT	p.R573S	FGA_uc003ioe.1_Missense_Mutation_p.R573S|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	573	By similarity.		R -> C (in Dusart/Paris-5).|R -> L (in AMYL8).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	NSCLC(143;340 1922 20892 22370 48145)								0.632353	146.149417	147.201581	43	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155506864	155506864	6067	4	G	T	T	T	507	39	FGA	1	1
C4orf45	152940	broad.mit.edu	37	4	159836423	159836423	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159836423G>T	uc003iqf.1	-	c.445C>A	c.(445-447)CAG>AAG	p.Q149K	C4orf45_uc010iqt.1_Non-coding_Transcript	NM_152543	NP_689756	Q96LM5	CD045_HUMAN	hypothetical protein LOC152940	149											0														0.846154	105.05878	109.509093	33	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159836423	159836423	2368	4	G	T	T	T	585	45	C4orf45	2	2
RAPGEF2	9693	broad.mit.edu	37	4	160274897	160274897	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:160274897G>T	uc003iqg.3	+	c.3867G>T	c.(3865-3867)TGG>TGT	p.W1289C		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1289					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			upper_aerodigestive_tract(1)|skin(1)	2	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)						322				0.197917	37.967777	46.129227	19	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160274897	160274897	13504	4	G	T	T	T	559	43	RAPGEF2	2	2
TKTL2	84076	broad.mit.edu	37	4	164394574	164394574	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:164394574G>T	uc003iqp.3	-	c.313C>A	c.(313-315)CAC>AAC	p.H105N		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	105						cytoplasm	metal ion binding|transketolase activity			ovary(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)												0.272727	30.378339	32.428631	12	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	164394574	164394574	16465	4	G	T	T	T	585	45	TKTL2	2	2
TLL1	7092	broad.mit.edu	37	4	166910616	166910616	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:166910616C>A	uc011cjn.1	+	c.253C>A	c.(253-255)CCC>ACC	p.P85T	TLL1_uc003irh.1_Missense_Mutation_p.P85T|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	85					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)|central_nervous_system(1)	4	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)										0.847458	161.283936	168.118155	50	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166910616	166910616	16475	4	C	A	A	A	286	22	TLL1	2	2
SPOCK3	50859	broad.mit.edu	37	4	167675843	167675843	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:167675843T>A	uc011cjq.1	-	c.783A>T	c.(781-783)TCA>TCT	p.S261S	SPOCK3_uc011cjp.1_Silent_p.S209S|SPOCK3_uc011cjr.1_Silent_p.S132S|SPOCK3_uc003iri.1_Silent_p.S252S|SPOCK3_uc003irj.1_Silent_p.S249S|SPOCK3_uc011cjs.1_Silent_p.S201S|SPOCK3_uc011cjt.1_Silent_p.S160S|SPOCK3_uc011cju.1_Silent_p.S145S|SPOCK3_uc011cjv.1_Silent_p.S154S|SPOCK3_uc003irk.3_Silent_p.S249S	NM_001040159	NP_001035249	Q9BQ16	TICN3_HUMAN	testican 3 isoform 1	252					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)										0.227848	47.112795	52.478402	18	61	KEEP	---	---	---	---	capture		Silent	SNP	167675843	167675843	15594	4	T	A	A	A	756	59	SPOCK3	3	3
DDX60L	91351	broad.mit.edu	37	4	169343778	169343778	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169343778C>A	uc003irq.3	-	c.2141G>T	c.(2140-2142)GGA>GTA	p.G714V	DDX60L_uc003irr.1_Missense_Mutation_p.G714V|DDX60L_uc003irs.1_Missense_Mutation_p.G441V	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	714							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)										0.16129	8.653447	12.038995	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169343778	169343778	4550	4	C	A	A	A	390	30	DDX60L	2	2
CLCN3	1182	broad.mit.edu	37	4	170601243	170601243	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170601243C>T	uc003ish.2	+	c.203C>T	c.(202-204)TCT>TTT	p.S68F	CLCN3_uc003isi.2_Missense_Mutation_p.S68F|CLCN3_uc011cjz.1_Missense_Mutation_p.S51F|CLCN3_uc011cka.1_Missense_Mutation_p.S68F|CLCN3_uc003isj.1_Missense_Mutation_p.S41F	NM_173872	NP_776297	P51790	CLCN3_HUMAN	chloride channel 3 isoform e	68	Cytoplasmic (By similarity).				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)										0.531915	80.467087	80.508105	25	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170601243	170601243	3600	4	C	T	T	T	416	32	CLCN3	2	2
GALNTL6	442117	broad.mit.edu	37	4	172735867	172735867	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:172735867C>A	uc003isv.2	+	c.136C>A	c.(136-138)CAG>AAG	p.Q46K		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	46	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)	3														0.888889	53.014088	55.702444	16	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	172735867	172735867	6489	4	C	A	A	A	325	25	GALNTL6	2	2
MORF4	10934	broad.mit.edu	37	4	174537450	174537450	+	Silent	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:174537450A>C	uc011cke.1	-	c.345T>G	c.(343-345)TCT>TCG	p.S115S		NM_006792	NP_006783			mortality factor 4												0		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)		all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)										0.138889	55.402522	91.715951	40	248	KEEP	---	---	---	---	capture		Silent	SNP	174537450	174537450	10096	4	A	C	C	C	132	11	MORF4	4	4
QDPR	5860	broad.mit.edu	37	4	17510984	17510984	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:17510984C>G	uc003gpd.2	-	c.108G>C	c.(106-108)TGG>TGC	p.W36C	QDPR_uc003gpe.2_Intron|QDPR_uc003gpf.2_Non-coding_Transcript	NM_000320	NP_000311	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	36	NADP.		W -> R (in HPABH4C).		dihydrobiopterin metabolic process|L-phenylalanine catabolic process|oxidation-reduction process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			ovary(1)	1					NADH(DB00157)									0.333333	66.1023	67.799593	23	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17510984	17510984	13330	4	C	G	G	G	286	22	QDPR	3	3
FBXO8	26269	broad.mit.edu	37	4	175180957	175180957	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:175180957C>A	uc003itp.2	-	c.349G>T	c.(349-351)GGT>TGT	p.G117C	FBXO8_uc003itq.2_Missense_Mutation_p.G76C	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	F-box only protein 8	117					regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(2)	2		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)										0.7875	209.961953	216.070536	63	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175180957	175180957	5998	4	C	A	A	A	286	22	FBXO8	2	2
WDR17	116966	broad.mit.edu	37	4	177073085	177073085	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:177073085G>T	uc003iuj.2	+	c.2499G>T	c.(2497-2499)CAG>CAT	p.Q833H	WDR17_uc003iuk.2_Missense_Mutation_p.Q809H|WDR17_uc003ium.3_Missense_Mutation_p.Q809H|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.Q52H	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	833										ovary(2)|pancreas(1)	3		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)										0.631579	112.309926	113.176301	36	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177073085	177073085	17850	4	G	T	T	T	425	33	WDR17	2	2
VEGFC	7424	broad.mit.edu	37	4	177648969	177648969	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:177648969T>A	uc003ius.1	-	c.515A>T	c.(514-516)CAG>CTG	p.Q172L		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	172					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(2)	2		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)						148				0.85	280.552963	292.275296	85	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	177648969	177648969	17719	4	T	A	A	A	715	55	VEGFC	3	3
NEIL3	55247	broad.mit.edu	37	4	178243682	178243682	+	Missense_Mutation	SNP	G	T	T	rs34112288	by1000genomes	TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:178243682G>T	uc003iut.2	+	c.226G>T	c.(226-228)GTG>TTG	p.V76L	NEIL3_uc010irs.2_Intron	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	76					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)										0.204724	62.411762	72.660524	26	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178243682	178243682	10719	4	G	T	T	T	520	40	NEIL3	1	1
ODZ3	55714	broad.mit.edu	37	4	183635306	183635306	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183635306T>C	uc003ivd.1	+	c.2288T>C	c.(2287-2289)GTG>GCG	p.V763A	ODZ3_uc003ive.1_Missense_Mutation_p.V169A	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	763	EGF-like 8.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)										0.169014	13.850803	21.251885	12	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183635306	183635306	11241	4	T	C	C	C	767	59	ODZ3	4	4
ODZ3	55714	broad.mit.edu	37	4	183650131	183650131	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183650131C>T	uc003ivd.1	+	c.2382C>T	c.(2380-2382)GAC>GAT	p.D794D	ODZ3_uc003ive.1_Silent_p.D200D	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	794	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)										0.730769	123.669734	126.167248	38	14	KEEP	---	---	---	---	capture		Silent	SNP	183650131	183650131	11241	4	C	T	T	T	259	20	ODZ3	2	2
KIAA1430	57587	broad.mit.edu	37	4	186083983	186083983	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:186083983T>C	uc003ixf.3	-	c.1568A>G	c.(1567-1569)AAA>AGA	p.K523R		NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	hypothetical protein LOC57587	523											0		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)										0.133333	7.079295	10.993369	4	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186083983	186083983	8541	4	T	C	C	C	832	64	KIAA1430	4	4
PDLIM3	27295	broad.mit.edu	37	4	186423597	186423597	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:186423597C>G	uc003ixw.3	-	c.946G>C	c.(946-948)GAG>CAG	p.E316Q	PDLIM3_uc003ixx.3_Missense_Mutation_p.E268Q|PDLIM3_uc010isi.2_Non-coding_Transcript	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain protein 3 isoform a	316	LIM zinc-binding.					sarcomere	zinc ion binding			ovary(2)	2		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)										0.528205	331.834592	331.964142	103	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186423597	186423597	12102	4	C	G	G	G	377	29	PDLIM3	3	3
CYP4V2	285440	broad.mit.edu	37	4	187122322	187122322	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187122322A>T	uc003iyw.3	+	c.813A>T	c.(811-813)GAA>GAT	p.E271D		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily v,	271					oxidation-reduction process|response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity				0		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)										0.065934	-5.022658	12.765799	6	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187122322	187122322	4357	4	A	T	T	T	24	2	CYP4V2	3	3
F11	2160	broad.mit.edu	37	4	187196955	187196955	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187196955T>C	uc003iza.1	+	c.500T>C	c.(499-501)CTG>CCG	p.L167P		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	167	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)									0.137931	12.357434	19.715199	8	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187196955	187196955	5531	4	T	C	C	C	715	55	F11	4	4
FAT1	2195	broad.mit.edu	37	4	187521300	187521300	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187521300A>C	uc003izf.2	-	c.11855T>G	c.(11854-11856)TTT>TGT	p.F3952C	FAT1_uc003ize.2_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3952	Extracellular (Potential).|Laminin G-like.				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)								0.046296	-12.213085	11.497138	5	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187521300	187521300	5925	4	A	C	C	C	13	1	FAT1	4	4
FAT1	2195	broad.mit.edu	37	4	187522509	187522509	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187522509C>A	uc003izf.2	-	c.11554G>T	c.(11554-11556)GAG>TAG	p.E3852*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3852	Extracellular (Potential).|Laminin G-like.				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)								0.56	84.301796	84.45814	28	22	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	187522509	187522509	5925	4	C	A	A	A	416	32	FAT1	5	2
FAT1	2195	broad.mit.edu	37	4	187540974	187540974	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187540974C>A	uc003izf.2	-	c.6766G>T	c.(6766-6768)GCA>TCA	p.A2256S		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2256	Extracellular (Potential).|Cadherin 20.				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)								0.381526	291.695161	294.749311	95	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187540974	187540974	5925	4	C	A	A	A	351	27	FAT1	1	1
FAT1	2195	broad.mit.edu	37	4	187541170	187541170	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187541170C>A	uc003izf.2	-	c.6570G>T	c.(6568-6570)GAG>GAT	p.E2190D		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2190	Extracellular (Potential).|Cadherin 20.				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)								0.576923	276.262722	277.066656	90	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187541170	187541170	5925	4	C	A	A	A	415	32	FAT1	2	2
FAT1	2195	broad.mit.edu	37	4	187630266	187630266	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:187630266C>A	uc003izf.2	-	c.716G>T	c.(715-717)AGC>ATC	p.S239I	FAT1_uc010iso.1_Missense_Mutation_p.S239I	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	239	Extracellular (Potential).|Cadherin 2.				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)								0.389189	205.279729	207.261663	72	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187630266	187630266	5925	4	C	A	A	A	364	28	FAT1	2	2
TRIML1	339976	broad.mit.edu	37	4	189065004	189065004	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:189065004G>T	uc003izm.1	+	c.748G>T	c.(748-750)GCC>TCC	p.A250S	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	250					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)								0.263158	62.20245	66.979064	25	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	189065004	189065004	17100	4	G	T	T	T	442	34	TRIML1	2	2
SLIT2	9353	broad.mit.edu	37	4	20255564	20255564	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20255564C>A	uc003gpr.1	+	c.126C>A	c.(124-126)CAC>CAA	p.H42Q	SLIT2_uc003gps.1_Missense_Mutation_p.H42Q	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	42	LRRNT.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.511111	73.731269	73.736366	23	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20255564	20255564	15238	4	C	A	A	A	246	19	SLIT2	1	1
SLIT2	9353	broad.mit.edu	37	4	20469422	20469422	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20469422G>T	uc003gpr.1	+	c.443G>T	c.(442-444)CGT>CTT	p.R148L	SLIT2_uc003gps.1_Missense_Mutation_p.R148L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	148	LRR 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.162162	12.826817	16.841513	6	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20469422	20469422	15238	4	G	T	T	T	520	40	SLIT2	1	1
SLIT2	9353	broad.mit.edu	37	4	20543082	20543082	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20543082C>T	uc003gpr.1	+	c.1983C>T	c.(1981-1983)CTC>CTT	p.L661L	SLIT2_uc003gps.1_Silent_p.L653L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	661					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.271186	39.35969	42.158233	16	43	KEEP	---	---	---	---	capture		Silent	SNP	20543082	20543082	15238	4	C	T	T	T	405	32	SLIT2	2	2
SLIT2	9353	broad.mit.edu	37	4	20611664	20611664	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20611664C>A	uc003gpr.1	+	c.3721C>A	c.(3721-3723)CAC>AAC	p.H1241N	SLIT2_uc003gps.1_Missense_Mutation_p.H1233N	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1241	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.22807	28.331266	32.214248	13	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20611664	20611664	15238	4	C	A	A	A	273	21	SLIT2	2	2
SLIT2	9353	broad.mit.edu	37	4	20611666	20611666	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20611666C>A	uc003gpr.1	+	c.3723C>A	c.(3721-3723)CAC>CAA	p.H1241Q	SLIT2_uc003gps.1_Missense_Mutation_p.H1233Q	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1241	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.245614	33.918298	37.280525	14	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20611666	20611666	15238	4	C	A	A	A	220	17	SLIT2	2	2
SLIT2	9353	broad.mit.edu	37	4	20611668	20611668	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:20611668T>A	uc003gpr.1	+	c.3725T>A	c.(3724-3726)ATT>AAT	p.I1242N	SLIT2_uc003gps.1_Missense_Mutation_p.I1234N	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1242	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|initiation of Roundabout signal transduction|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|ovary(3)	7														0.218182	22.617687	26.710603	12	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20611668	20611668	15238	4	T	A	A	A	676	52	SLIT2	3	3
PPARGC1A	10891	broad.mit.edu	37	4	23803939	23803939	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:23803939T>A	uc003gqs.2	-	c.2049A>T	c.(2047-2049)AAA>AAT	p.K683N	PPARGC1A_uc003gqt.2_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	683	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription mediator activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)	6		Breast(46;0.0503)				Esophageal Squamous(29;694 744 13796 34866 44181)				410				0.349398	71.988512	73.676803	29	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23803939	23803939	12730	4	T	A	A	A	829	64	PPARGC1A	3	3
PPARGC1A	10891	broad.mit.edu	37	4	23815429	23815429	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:23815429A>G	uc003gqs.2	-	c.1677T>C	c.(1675-1677)TCT>TCC	p.S559S	PPARGC1A_uc003gqt.2_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	559					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription mediator activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)	6		Breast(46;0.0503)				Esophageal Squamous(29;694 744 13796 34866 44181)				410				0.377778	107.618012	108.80114	34	56	KEEP	---	---	---	---	capture		Silent	SNP	23815429	23815429	12730	4	A	G	G	G	132	11	PPARGC1A	4	4
LGI2	55203	broad.mit.edu	37	4	25014122	25014122	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:25014122C>A	uc003grf.2	-	c.656_splice	c.e7-1	p.D219_splice		NM_018176	NP_060646			leucine-rich repeat LGI family, member 2							extracellular region					0		Breast(46;0.173)												0.463415	112.138442	112.234352	38	44	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	25014122	25014122	9078	4	C	A	A	A	416	32	LGI2	5	2
STIM2	57620	broad.mit.edu	37	4	27019446	27019446	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:27019446G>T	uc003gsh.3	+	c.1888G>T	c.(1888-1890)GCC>TCC	p.A630S	STIM2_uc003gsg.3_Missense_Mutation_p.A622S|STIM2_uc010iex.2_Missense_Mutation_p.A622S|STIM2_uc010iey.2_Missense_Mutation_p.A246S	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	535	Cytoplasmic (Potential).|His/Pro-rich.				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)	1		Breast(46;0.0503)												0.205993	116.664256	138.056051	55	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27019446	27019446	15804	4	G	T	T	T	494	38	STIM2	1	1
SH3BP2	6452	broad.mit.edu	37	4	2822418	2822418	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:2822418G>T	uc003gfj.3	+	c.245G>T	c.(244-246)GGG>GTG	p.G82V	SH3BP2_uc010icn.2_Missense_Mutation_p.G25V|SH3BP2_uc003gfi.3_Missense_Mutation_p.G25V|SH3BP2_uc011bvp.1_Missense_Mutation_p.G53V|SH3BP2_uc003gfk.3_Missense_Mutation_p.G25V|SH3BP2_uc003gfl.3_5'UTR	NM_001145856	NP_001139328	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform b	25					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)										0.456311	137.152525	137.329504	47	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2822418	2822418	14736	4	G	T	T	T	559	43	SH3BP2	2	2
GRK4	2868	broad.mit.edu	37	4	3029698	3029698	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3029698C>T	uc003ggn.1	+	c.1030C>T	c.(1030-1032)CGA>TGA	p.R344*	GRK4_uc003ggo.1_Nonsense_Mutation_p.R344*|GRK4_uc003ggp.1_Nonsense_Mutation_p.R312*|GRK4_uc003ggq.1_Nonsense_Mutation_p.R312*	NM_182982	NP_892027	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4 isoform	344	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)						1452				0.109375	7.483448	17.148569	7	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3029698	3029698	7070	4	C	T	T	T	399	31	GRK4	5	1
HTT	3064	broad.mit.edu	37	4	3174833	3174833	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3174833G>A	uc011bvq.1	+	c.4147G>A	c.(4147-4149)GCG>ACG	p.A1383T		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1381					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			ovary(1)|lung(1)	2		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)										0.150943	13.06493	19.252678	8	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3174833	3174833	7757	4	G	A	A	A	546	42	HTT	2	2
ARAP2	116984	broad.mit.edu	37	4	36163086	36163086	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:36163086C>A	uc003gsq.1	-	c.2259_splice	c.e12+1	p.E753_splice	ARAP2_uc003gsr.1_Splice_Site_SNP_p.E753_splice	NM_015230	NP_056045			ArfGAP with RhoGAP domain, ankyrin repeat and PH						regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.368421	65.660614	66.527901	21	36	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	36163086	36163086	850	4	C	A	A	A	234	18	ARAP2	5	2
ADRA2C	152	broad.mit.edu	37	4	3768794	3768794	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:3768794C>T	uc003ghm.2	+	c.461C>T	c.(460-462)ACG>ATG	p.T154M	ADRA2C_uc010icx.2_Missense_Mutation_p.T154M	NM_000683	NP_000674	P18825	ADA2C_HUMAN	alpha-2C-adrenergic receptor	154	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	Esophageal Squamous(12;454 628 4517 14479)								0.538462	20.714658	20.730595	7	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3768794	3768794	340	4	C	T	T	T	247	19	ADRA2C	1	1
N4BP2	55728	broad.mit.edu	37	4	40146365	40146365	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:40146365G>C	uc003guy.3	+	c.5088G>C	c.(5086-5088)CTG>CTC	p.L1696L	N4BP2_uc010ifq.2_Silent_p.L1616L|N4BP2_uc010ifr.2_Silent_p.L1599L	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	1696	Smr.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8										693				0.490385	174.518556	174.527001	51	53	KEEP	---	---	---	---	capture		Silent	SNP	40146365	40146365	10505	4	G	C	C	C	587	46	N4BP2	3	3
RBM47	54502	broad.mit.edu	37	4	40438622	40438622	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:40438622C>T	uc003gvc.2	-	c.1166G>A	c.(1165-1167)AGA>AAA	p.R389K	RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R351K	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	389						nucleus	nucleotide binding|RNA binding			breast(3)	3														0.42	126.016959	126.578092	42	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40438622	40438622	13603	4	C	T	T	T	416	32	RBM47	2	2
PHOX2B	8929	broad.mit.edu	37	4	41749393	41749393	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:41749393C>G	uc003gwf.3	-	c.402G>C	c.(400-402)AAG>AAC	p.K134N		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	134	Homeobox.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription regulator activity			autonomic_ganglia(7)|ovary(2)|lung(1)|central_nervous_system(1)	11										56				0.222222	30.781271	34.607014	12	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41749393	41749393	12283	4	C	G	G	G	415	32	PHOX2B	3	3
OTOP1	133060	broad.mit.edu	37	4	4190628	4190628	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:4190628C>A	uc003ghp.1	-	c.1741G>T	c.(1741-1743)GAA>TAA	p.E581*		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	581	Helical; (Potential).				biomineral tissue development	extracellular space|integral to membrane				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)										0.093137	8.784922	42.739106	19	185	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	4190628	4190628	11717	4	C	A	A	A	377	29	OTOP1	5	2
ATP8A1	10396	broad.mit.edu	37	4	42580345	42580345	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:42580345G>A	uc003gwr.2	-	c.1060C>T	c.(1060-1062)CTC>TTC	p.L354F	ATP8A1_uc003gws.2_Missense_Mutation_p.L354F|ATP8A1_uc011byz.1_Missense_Mutation_p.L354F	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	354	Helical; (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(1)	1					Phosphatidylserine(DB00144)									0.433962	146.040765	146.442362	46	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42580345	42580345	1211	4	G	A	A	A	429	33	ATP8A1	2	2
KCTD8	386617	broad.mit.edu	37	4	44177184	44177184	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:44177184C>A	uc003gwu.2	-	c.1045G>T	c.(1045-1047)GGG>TGG	p.G349W		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	349						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3														0.454545	209.928397	210.205717	70	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44177184	44177184	8421	4	C	A	A	A	273	21	KCTD8	2	2
GABRG1	2565	broad.mit.edu	37	4	46043136	46043136	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46043136T>C	uc003gxb.2	-	c.1267A>G	c.(1267-1269)AGA>GGA	p.R423G		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	423	Cytoplasmic (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)										0.576687	309.371923	310.209273	94	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46043136	46043136	6422	4	T	C	C	C	713	55	GABRG1	4	4
GABRG1	2565	broad.mit.edu	37	4	46066476	46066476	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46066476G>T	uc003gxb.2	-	c.607C>A	c.(607-609)CCA>ACA	p.P203T		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	203	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)										0.121622	9.618019	20.005396	9	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46066476	46066476	6422	4	G	T	T	T	533	41	GABRG1	2	2
GABRB1	2560	broad.mit.edu	37	4	47405654	47405654	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47405654C>A	uc003gxh.2	+	c.761C>A	c.(760-762)TCT>TAT	p.S254Y	GABRB1_uc011bze.1_Missense_Mutation_p.S184Y	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	254	Helical; (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)									0.408163	114.878669	115.601491	40	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47405654	47405654	6417	4	C	A	A	A	416	32	GABRB1	2	2
ATP10D	57205	broad.mit.edu	37	4	47563059	47563059	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47563059G>T	uc003gxk.1	+	c.2635G>T	c.(2635-2637)GCC>TCC	p.A879S	ATP10D_uc003gxl.1_Missense_Mutation_p.A127S	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	879	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3														0.330049	187.545724	192.747827	67	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47563059	47563059	1137	4	G	T	T	T	598	46	ATP10D	2	2
CORIN	10699	broad.mit.edu	37	4	47667172	47667172	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47667172C>T	uc003gxm.2	-	c.1466G>A	c.(1465-1467)TGG>TAG	p.W489*	CORIN_uc011bzf.1_Nonsense_Mutation_p.W350*|CORIN_uc011bzg.1_Nonsense_Mutation_p.W422*|CORIN_uc011bzh.1_Nonsense_Mutation_p.W452*|CORIN_uc011bzi.1_Nonsense_Mutation_p.W452*	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	489	Extracellular (Potential).|FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)	1														0.093458	4.884587	22.654888	10	97	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	47667172	47667172	3890	4	C	T	T	T	273	21	CORIN	5	2
CORIN	10699	broad.mit.edu	37	4	47788873	47788873	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47788873C>A	uc003gxm.2	-	c.278G>T	c.(277-279)GGG>GTG	p.G93V	CORIN_uc011bzf.1_5'UTR|CORIN_uc011bzg.1_Intron|CORIN_uc011bzh.1_Missense_Mutation_p.G93V|CORIN_uc011bzi.1_Missense_Mutation_p.G93V|CORIN_uc003gxn.3_Missense_Mutation_p.G93V	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	93	Extracellular (Potential).				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)	1														0.52	77.145333	77.162502	26	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47788873	47788873	3890	4	C	A	A	A	286	22	CORIN	2	2
CNGA1	1259	broad.mit.edu	37	4	47942862	47942862	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47942862A>T	uc003gxu.2	-	c.789T>A	c.(787-789)TCT>TCA	p.S263S	CNGA1_uc003gxt.3_Silent_p.S194S	NM_001142564	NP_001136036	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	194	Extracellular (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2														0.344262	61.354828	62.662355	21	40	KEEP	---	---	---	---	capture		Silent	SNP	47942862	47942862	3734	4	A	T	T	T	80	7	CNGA1	3	3
FRYL	285527	broad.mit.edu	37	4	48569380	48569380	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:48569380A>G	uc003gyh.1	-	c.3054T>C	c.(3052-3054)TAT>TAC	p.Y1018Y	FRYL_uc003gyk.2_Silent_p.Y1018Y|FRYL_uc003gyi.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1018					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1														0.511111	70.324911	70.329755	23	22	KEEP	---	---	---	---	capture		Silent	SNP	48569380	48569380	6314	4	A	G	G	G	102	8	FRYL	4	4
MSX1	4487	broad.mit.edu	37	4	4864782	4864782	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:4864782C>A	uc003gif.2	+	c.824C>A	c.(823-825)TCT>TAT	p.S275Y		NM_002448	NP_002439	P28360	MSX1_HUMAN	msh homeobox 1	269					skeletal system development	nucleus	sequence-specific DNA binding transcription factor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)										0.636364	21.026924	21.206952	7	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4864782	4864782	10288	4	C	A	A	A	416	32	MSX1	2	2
LRRC66	339977	broad.mit.edu	37	4	52861921	52861921	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52861921C>A	uc003gzi.2	-	c.1267G>T	c.(1267-1269)GAG>TAG	p.E423*		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	423						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.506986	800.473785	800.496801	254	247	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52861921	52861921	9393	4	C	A	A	A	403	31	LRRC66	5	1
STK32B	55351	broad.mit.edu	37	4	5418572	5418572	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5418572G>T	uc003gih.1	+	c.473G>T	c.(472-474)GGA>GTA	p.G158V	STK32B_uc010ida.1_Missense_Mutation_p.G111V	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	158	Protein kinase.				protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5										175				0.37931	29.513581	29.885625	11	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5418572	5418572	15818	4	G	T	T	T	533	41	STK32B	2	2
LNX1	84708	broad.mit.edu	37	4	54362242	54362242	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:54362242T>C	uc003hag.3	-	c.1298A>G	c.(1297-1299)AAT>AGT	p.N433S	PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Missense_Mutation_p.N337S|LNX1_uc003hah.3_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	433	PDZ 2.					cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)											0.220472	274.456547	310.982852	112	396	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54362242	54362242	9194	4	T	C	C	C	676	52	LNX1	4	4
KDR	3791	broad.mit.edu	37	4	55963918	55963918	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55963918C>A	uc003has.2	-	c.2525G>T	c.(2524-2526)CGT>CTT	p.R842L	KDR_uc003hat.1_Missense_Mutation_p.R842L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	842	Protein kinase.|ATP (By similarity).|Cytoplasmic (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)			0.342697	182.256089	186.130602	61	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55963918	55963918	8445	4	C	A	A	A	247	19	KDR	1	1
KDR	3791	broad.mit.edu	37	4	55964401	55964401	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55964401G>T	uc003has.2	-	c.2412C>A	c.(2410-2412)ATC>ATA	p.I804I	KDR_uc003hat.1_Silent_p.I804I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	804	Cytoplasmic (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)			0.15625	41.188027	59.227043	25	135	KEEP	---	---	---	---	capture		Silent	SNP	55964401	55964401	8445	4	G	T	T	T	473	37	KDR	1	1
KDR	3791	broad.mit.edu	37	4	55971034	55971034	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55971034G>A	uc003has.2	-	c.1763C>T	c.(1762-1764)CCA>CTA	p.P588L	KDR_uc003hat.1_Missense_Mutation_p.P588L|KDR_uc011bzx.1_Missense_Mutation_p.P588L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	588	Ig-like C2-type 6.|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)			0.273128	158.948667	169.567078	62	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55971034	55971034	8445	4	G	A	A	A	611	47	KDR	2	2
EVC	2121	broad.mit.edu	37	4	5812716	5812716	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5812716G>T	uc003gil.1	+	c.2931G>T	c.(2929-2931)GGG>GGT	p.G977G	EVC_uc003gim.1_Non-coding_Transcript|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	977					muscle organ development	integral to membrane				ovary(1)	1		Myeloproliferative disorder(84;0.117)												0.366197	76.730934	77.848824	26	45	KEEP	---	---	---	---	capture		Silent	SNP	5812716	5812716	5478	4	G	T	T	T	548	43	EVC	2	2
PDE6B	5158	broad.mit.edu	37	4	619536	619536	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:619536C>A	uc003gap.2	+	c.121C>A	c.(121-123)CCG>ACG	p.P41T	PDE6B_uc003gao.3_Missense_Mutation_p.P41T	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	41					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GBM(71;463 1194 9848 25922 46834)								0.307692	9.187837	9.620981	4	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	619536	619536	12067	4	C	A	A	A	286	22	PDE6B	2	2
LPHN3	23284	broad.mit.edu	37	4	62453099	62453099	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62453099T>A	uc010ihh.2	+	c.210T>A	c.(208-210)CCT>CCA	p.P70P	LPHN3_uc003hcq.3_Silent_p.P70P|LPHN3_uc010ihg.1_Silent_p.P138P	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	70	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.783784	101.995485	104.744215	29	8	KEEP	---	---	---	---	capture		Silent	SNP	62453099	62453099	9290	4	T	A	A	A	704	55	LPHN3	3	3
LPHN3	23284	broad.mit.edu	37	4	62542640	62542640	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62542640A>T	uc010ihh.2	+	c.366A>T	c.(364-366)GAA>GAT	p.E122D	LPHN3_uc003hcq.3_Missense_Mutation_p.E122D|LPHN3_uc010ihg.1_Missense_Mutation_p.E190D	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	122	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.613636	364.313116	366.300594	108	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62542640	62542640	9290	4	A	T	T	T	50	4	LPHN3	3	3
TMPRSS11B	132724	broad.mit.edu	37	4	69094994	69094994	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:69094994C>T	uc003hdw.3	-	c.927G>A	c.(925-927)TGG>TGA	p.W309*		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	309	Peptidase S1.|Extracellular (Potential).				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1														0.826087	133.077852	137.694714	38	8	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	69094994	69094994	16780	4	C	T	T	T	286	22	TMPRSS11B	5	2
UGT2B4	7363	broad.mit.edu	37	4	70360982	70360982	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70360982C>T	uc003hek.3	-	c.598G>A	c.(598-600)GAA>AAA	p.E200K	UGT2B4_uc011cap.1_Missense_Mutation_p.E64K|UGT2B4_uc003hel.3_Missense_Mutation_p.E200K	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	200					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0														0.59633	219.994199	220.877728	65	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70360982	70360982	17519	4	C	T	T	T	416	32	UGT2B4	2	2
STATH	6779	broad.mit.edu	37	4	70865520	70865520	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70865520A>G	uc003heu.1	+	c.96A>G	c.(94-96)AGA>AGG	p.R32R	STATH_uc003hev.1_Intron	NM_003154	NP_003145	P02808	STAT_HUMAN	statherin isoform a	32			Missing (in statherin variants SV2 and SV3).		biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel				0														0.764706	94.768359	96.947946	26	8	KEEP	---	---	---	---	capture		Silent	SNP	70865520	70865520	15791	4	A	G	G	G	154	12	STATH	4	4
SMR3B	10879	broad.mit.edu	37	4	71255442	71255442	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71255442A>C	uc011cas.1	+	c.117A>C	c.(115-117)CAA>CAC	p.Q39H	SMR3B_uc003hfh.2_Missense_Mutation_p.Q39H	NM_006685	NP_006676	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3	39	Pro-rich.					extracellular space				skin(1)	1		all_hematologic(202;0.196)												0.205357	51.401827	60.506992	23	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71255442	71255442	15312	4	A	C	C	C	24	2	SMR3B	4	4
PROL1	58503	broad.mit.edu	37	4	71275470	71275470	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71275470C>T	uc003hfi.2	+	c.425C>T	c.(424-426)CCC>CTC	p.P142L		NM_021225	NP_067048	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	142	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			large_intestine(1)	1		all_hematologic(202;0.196)												0.649007	327.873376	330.825351	98	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71275470	71275470	12997	4	C	T	T	T	286	22	PROL1	2	2
ANKRD17	26057	broad.mit.edu	37	4	74005688	74005688	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:74005688T>G	uc003hgp.2	-	c.2645A>C	c.(2644-2646)CAG>CCG	p.Q882P	ANKRD17_uc003hgo.2_Missense_Mutation_p.Q769P|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Missense_Mutation_p.Q882P|ANKRD17_uc011cbd.1_Missense_Mutation_p.Q447P	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	882	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(2)|lung(1)	8	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)											0.8	294.934297	304.548823	92	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74005688	74005688	649	4	T	G	G	G	715	55	ANKRD17	4	4
ALB	213	broad.mit.edu	37	4	74280832	74280832	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:74280832C>A	uc003hgs.3	+	c.1139C>A	c.(1138-1140)ACT>AAT	p.T380N	ALB_uc003hgw.3_Missense_Mutation_p.T188N|ALB_uc011cbe.1_Missense_Mutation_p.T59N|ALB_uc003hgt.3_Missense_Mutation_p.T380N|ALB_uc010iii.2_Missense_Mutation_p.T265N|ALB_uc003hgu.3_Missense_Mutation_p.T230N|ALB_uc003hgv.3_Missense_Mutation_p.T59N|ALB_uc011cbf.1_Missense_Mutation_p.T270N|ALB_uc010iij.2_Non-coding_Transcript|ALB_uc003hgx.3_Missense_Mutation_p.T59N	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	380	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)	3	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)									0.677419	135.066576	136.798496	42	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74280832	74280832	489	4	C	A	A	A	260	20	ALB	2	2
USO1	8615	broad.mit.edu	37	4	76703978	76703978	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76703978A>G	uc003hiu.2	+	c.822A>G	c.(820-822)GCA>GCG	p.A274A	USO1_uc003hiv.2_Silent_p.A109A|USO1_uc003hiw.2_Silent_p.A109A	NM_003715	NP_003706	O60763	USO1_HUMAN	USO1 homolog, vesicle docking protein	274	ARM 5.|Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)											0.862069	82.18937	85.866367	25	4	KEEP	---	---	---	---	capture		Silent	SNP	76703978	76703978	17601	4	A	G	G	G	67	6	USO1	4	4
CCDC158	339965	broad.mit.edu	37	4	77290615	77290615	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77290615G>T	uc003hkb.3	-	c.1311C>A	c.(1309-1311)GCC>GCA	p.A437A		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	437	Potential.									ovary(2)|pancreas(1)	3														0.142857	5.883165	9.323573	4	24	KEEP	---	---	---	---	capture		Silent	SNP	77290615	77290615	2912	4	G	T	T	T	444	35	CCDC158	2	2
SHROOM3	57619	broad.mit.edu	37	4	77660382	77660382	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77660382G>C	uc011cbx.1	+	c.1056G>C	c.(1054-1056)CGG>CGC	p.R352R	SHROOM3_uc011cbz.1_Silent_p.R176R|SHROOM3_uc003hkf.1_Silent_p.R227R|SHROOM3_uc003hkg.2_Silent_p.R130R	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	352					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)											0.641026	80.378807	81.060417	25	14	KEEP	---	---	---	---	capture		Silent	SNP	77660382	77660382	14790	4	G	C	C	C	548	43	SHROOM3	3	3
SEPT11	55752	broad.mit.edu	37	4	77952117	77952117	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:77952117A>C	uc003hkj.2	+	c.1268A>C	c.(1267-1269)AAG>ACG	p.K423T	SEPT11_uc010ijh.1_Missense_Mutation_p.K415T|SEPT11_uc011cca.1_Missense_Mutation_p.K433T	NM_018243	NP_060713	Q9NVA2	SEP11_HUMAN	septin 11	423					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding				0														0.193182	30.185292	37.977487	17	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77952117	77952117	14547	4	A	C	C	C	39	3	SEPT11	4	4
FRAS1	80144	broad.mit.edu	37	4	79284775	79284775	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79284775C>T	uc003hlb.2	+	c.2531C>T	c.(2530-2532)CCT>CTT	p.P844L	FRAS1_uc003hkw.2_Missense_Mutation_p.P844L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	844	FU 9.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.30303	28.636194	29.779725	10	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79284775	79284775	6288	4	C	T	T	T	312	24	FRAS1	2	2
FRAS1	80144	broad.mit.edu	37	4	79308821	79308821	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79308821A>G	uc003hlb.2	+	c.3941A>G	c.(3940-3942)CAT>CGT	p.H1314R	FRAS1_uc003hkw.2_Missense_Mutation_p.H1314R	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1313	CSPG 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5														0.157895	10.531034	14.767795	6	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79308821	79308821	6288	4	A	G	G	G	104	8	FRAS1	4	4
PAQR3	152559	broad.mit.edu	37	4	79856274	79856274	+	Splice_Site_SNP	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:79856274C>T	uc003hlp.1	-	c.348_splice	c.e2+1	p.Q116_splice	PAQR3_uc003hlm.2_Splice_Site_SNP|PAQR3_uc003hln.2_Intron|PAQR3_uc003hlq.1_Intron	NM_001040202	NP_001035292			progestin and adipoQ receptor family member III							Golgi membrane|integral to membrane	receptor activity				0										9				0.820084	1304.563802	1350.72471	392	86	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	79856274	79856274	11853	4	C	T	T	T	234	18	PAQR3	5	2
AGPAT9	84803	broad.mit.edu	37	4	84457904	84457904	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:84457904G>C	uc003how.2	+	c.129G>C	c.(127-129)GTG>GTC	p.V43V	AGPAT9_uc003hox.2_Silent_p.V43V|AGPAT9_uc003hoy.2_Silent_p.V43V	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	43					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity				0		Hepatocellular(203;0.114)												0.588235	35.553251	35.668857	10	7	KEEP	---	---	---	---	capture		Silent	SNP	84457904	84457904	395	4	G	C	C	C	574	45	AGPAT9	3	3
SPARCL1	8404	broad.mit.edu	37	4	88415261	88415261	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88415261T>G	uc010ikm.2	-	c.691A>C	c.(691-693)AGC>CGC	p.S231R	SPARCL1_uc011cdc.1_Missense_Mutation_p.S106R|SPARCL1_uc003hqs.3_Missense_Mutation_p.S231R|SPARCL1_uc011cdd.1_Missense_Mutation_p.S106R|SPARCL1_uc003hqt.2_Missense_Mutation_p.S231R	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN	SPARC-like 1 precursor	231					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;0.00118)										0.099526	12.855643	46.656826	21	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88415261	88415261	15504	4	T	G	G	G	715	55	SPARCL1	4	4
DSPP	1834	broad.mit.edu	37	4	88534363	88534363	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:88534363A>G	uc003hqu.2	+	c.1025A>G	c.(1024-1026)GAG>GGG	p.E342G		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	342					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)										0.093023	1.968699	9.134474	4	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88534363	88534363	4966	4	A	G	G	G	143	11	DSPP	4	4
MMRN1	22915	broad.mit.edu	37	4	90830522	90830523	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:90830522_90830523GG>TT	uc003hst.2	+	c.719_720GG>TT	c.(718-720)TGG>TTT	p.W240F	MMRN1_uc010iku.2_Missense_Mutation_p.W206F|MMRN1_uc011cds.1_5'UTR	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	240	EMI.				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)										0.66129	138.892761	140.318952	41	21	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	90830522	90830523	10061	4	GG	TT	TT	TT	611	47	MMRN1	2	2
GRID2	2895	broad.mit.edu	37	4	94376904	94376904	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94376904G>A	uc011cdt.1	+	c.1637G>A	c.(1636-1638)GGG>GAG	p.G546E	GRID2_uc011cdu.1_Missense_Mutation_p.G451E	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	546	Extracellular (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)									0.648649	242.029943	244.193618	72	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94376904	94376904	7050	4	G	A	A	A	559	43	GRID2	2	2
BMPR1B	658	broad.mit.edu	37	4	96025611	96025611	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:96025611C>A	uc003htm.3	+	c.36C>A	c.(34-36)GGC>GGA	p.G12G	BMPR1B_uc010ilb.2_Silent_p.G12G|BMPR1B_uc003htn.3_Silent_p.G12G	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	12					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|protein phosphorylation	integral to plasma membrane|receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(2)|stomach(1)|skin(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)						166				0.1875	25.492809	31.322034	12	52	KEEP	---	---	---	---	capture		Silent	SNP	96025611	96025611	1495	4	C	A	A	A	314	25	BMPR1B	2	2
SLCO4C1	353189	broad.mit.edu	37	5	101606329	101606329	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:101606329T>A	uc003knm.2	-	c.801A>T	c.(799-801)ATA>ATT	p.I267I		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	267	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)										0.5	223.745051	223.745051	70	70	KEEP	---	---	---	---	capture		Silent	SNP	101606329	101606329	15227	5	T	A	A	A	680	53	SLCO4C1	3	3
SLCO6A1	133482	broad.mit.edu	37	5	101724433	101724433	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:101724433A>T	uc003knn.2	-	c.1976T>A	c.(1975-1977)ATA>AAA	p.I659K	SLCO6A1_uc003kno.2_Missense_Mutation_p.I406K|SLCO6A1_uc003knp.2_Missense_Mutation_p.I659K|SLCO6A1_uc003knq.2_Missense_Mutation_p.I597K	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	659	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|central_nervous_system(1)	4		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)										0.555556	67.705554	67.80264	20	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101724433	101724433	15229	5	A	T	T	T	208	16	SLCO6A1	3	3
FER	2241	broad.mit.edu	37	5	108290505	108290505	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:108290505G>T	uc003kop.1	+	c.1405G>T	c.(1405-1407)GAA>TAA	p.E469*	FER_uc011cvf.1_Non-coding_Transcript|FER_uc011cvg.1_Nonsense_Mutation_p.E294*	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	469	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|ovary(1)|kidney(1)	4		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		Colon(146;1051 1799 9836 27344 47401)				232				0.542373	97.299887	97.391576	32	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	108290505	108290505	6050	5	G	T	T	T	429	33	FER	5	2
CAMK4	814	broad.mit.edu	37	5	110819971	110819971	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:110819971C>A	uc011cvj.1	+	c.1229C>A	c.(1228-1230)GCT>GAT	p.A410D	CAMK4_uc003kpf.2_Missense_Mutation_p.A410D|CAMK4_uc010jbv.2_Missense_Mutation_p.A213D|CAMK4_uc003kpg.2_Missense_Mutation_p.A101D	NM_001744	NP_001735	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	410					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|protein phosphorylation|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(3)|lung(2)	5		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)						687				0.375	86.627824	87.726141	30	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110819971	110819971	2722	5	C	A	A	A	364	28	CAMK4	2	2
EPB41L4A	64097	broad.mit.edu	37	5	111570404	111570404	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:111570404G>T	uc003kpv.1	-	c.1014C>A	c.(1012-1014)CCC>CCA	p.P338P		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	338						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)										0.395745	264.546947	266.773989	93	142	KEEP	---	---	---	---	capture		Silent	SNP	111570404	111570404	5348	5	G	T	T	T	548	43	EPB41L4A	2	2
CTNND2	1501	broad.mit.edu	37	5	11159704	11159704	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11159704C>G	uc003jfa.1	-	c.2143G>C	c.(2143-2145)GCC>CCC	p.A715P	CTNND2_uc010itt.2_Missense_Mutation_p.A624P|CTNND2_uc011cmy.1_Missense_Mutation_p.A378P|CTNND2_uc011cmz.1_Missense_Mutation_p.A282P|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.A282P	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	715	ARM 5.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.478764	410.510842	410.610351	124	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11159704	11159704	4179	5	C	G	G	G	351	27	CTNND2	3	3
CTNND2	1501	broad.mit.edu	37	5	11236872	11236872	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11236872G>A	uc003jfa.1	-	c.1692C>T	c.(1690-1692)CCC>CCT	p.P564P	CTNND2_uc010itt.2_Silent_p.P473P|CTNND2_uc011cmy.1_Silent_p.P227P|CTNND2_uc011cmz.1_Silent_p.P131P|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.P131P	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	564	ARM 2.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.146868	124.580882	180.015818	68	395	KEEP	---	---	---	---	capture		Silent	SNP	11236872	11236872	4179	5	G	A	A	A	444	35	CTNND2	2	2
KCNN2	3781	broad.mit.edu	37	5	113829163	113829163	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:113829163G>T	uc003kqo.2	+	c.1446G>T	c.(1444-1446)TTG>TTT	p.L482F	KCNN2_uc003kqp.2_Missense_Mutation_p.L134F|KCNN2_uc010jcg.2_Non-coding_Transcript	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	482	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)										0.453782	165.13194	165.353868	54	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113829163	113829163	8384	5	G	T	T	T	607	47	KCNN2	2	2
AP3S1	1176	broad.mit.edu	37	5	115205762	115205762	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115205762G>T	uc003krl.2	+	c.210G>T	c.(208-210)ACG>ACT	p.T70T	AP3S1_uc003krk.2_Silent_p.T48T|AP3S1_uc003krm.2_Silent_p.T70T	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1	70					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)										0.318182	83.988717	86.563935	28	60	KEEP	---	---	---	---	capture		Silent	SNP	115205762	115205762	759	5	G	T	T	T	509	40	AP3S1	1	1
AP3S1	1176	broad.mit.edu	37	5	115238581	115238581	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:115238581G>T	uc003krl.2	+	c.346_splice	c.e5-1	p.V116_splice	AP3S1_uc003krk.2_Splice_Site_SNP_p.V94_splice|AP3S1_uc003krm.2_Intron	NM_001284	NP_001275			adaptor-related protein complex 3, sigma 1						insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity				0		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)										0.333333	37.135122	38.168787	14	28	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	115238581	115238581	759	5	G	T	T	T	455	35	AP3S1	5	2
DMXL1	1657	broad.mit.edu	37	5	118469760	118469760	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118469760G>T	uc010jcl.1	+	c.2141G>T	c.(2140-2142)GGG>GTG	p.G714V	DMXL1_uc003ksd.2_Missense_Mutation_p.G714V|DMXL1_uc003ksc.1_Missense_Mutation_p.G714V	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	714										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)										0.466102	166.011325	166.12961	55	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118469760	118469760	4776	5	G	T	T	T	559	43	DMXL1	2	2
FAM170A	340069	broad.mit.edu	37	5	118970330	118970330	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118970330C>A	uc003ksm.2	+	c.887C>A	c.(886-888)GCA>GAA	p.A296E	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.A296E|FAM170A_uc003kso.2_Missense_Mutation_p.A249E	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	296	Glu-rich.					intracellular	zinc ion binding				0														0.380645	166.267046	168.210416	59	96	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118970330	118970330	5693	5	C	A	A	A	325	25	FAM170A	2	2
PRR16	51334	broad.mit.edu	37	5	120022351	120022351	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:120022351G>C	uc003ksq.2	+	c.862G>C	c.(862-864)GCA>CCA	p.A288P	PRR16_uc003ksp.2_Missense_Mutation_p.A265P|PRR16_uc003ksr.2_Missense_Mutation_p.A218P	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	proline rich 16	288	Pro-rich.									pancreas(2)|ovary(1)	3		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)										0.382609	139.205215	140.582791	44	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120022351	120022351	13032	5	G	C	C	C	598	46	PRR16	3	3
GRAMD3	65983	broad.mit.edu	37	5	125824489	125824489	+	Splice_Site_SNP	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:125824489A>T	uc011cwt.1	+	c.1209_splice	c.e13-2	p.E403_splice	GRAMD3_uc003ktu.2_Splice_Site_SNP_p.E388_splice|GRAMD3_uc011cwv.1_Splice_Site_SNP_p.E396_splice|GRAMD3_uc011cww.1_Splice_Site_SNP_p.E284_splice|GRAMD3_uc011cwx.1_Intron|GRAMD3_uc011cwy.1_Splice_Site_SNP_p.E279_splice|GRAMD3_uc011cwz.1_Splice_Site_SNP_p.E372_splice	NM_001146319	NP_001139791			GRAM domain containing 3 isoform 1											central_nervous_system(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)										0.385965	69.537661	70.187035	22	35	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	125824489	125824489	7027	5	A	T	T	T	91	7	GRAMD3	5	3
MEGF10	84466	broad.mit.edu	37	5	126770382	126770382	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126770382G>C	uc003kuh.3	+	c.1844G>C	c.(1843-1845)TGC>TCC	p.C615S	MEGF10_uc003kui.3_Missense_Mutation_p.C615S	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	615	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)										0.416667	47.926827	48.142715	15	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126770382	126770382	9849	5	G	C	C	C	598	46	MEGF10	3	3
FBN2	2201	broad.mit.edu	37	5	127610317	127610317	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127610317C>A	uc003kuu.2	-	c.7653G>T	c.(7651-7653)CTG>CTT	p.L2551L		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2551	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.442177	196.446797	196.876008	65	82	KEEP	---	---	---	---	capture		Silent	SNP	127610317	127610317	5939	5	C	A	A	A	262	21	FBN2	2	2
FBN2	2201	broad.mit.edu	37	5	127693085	127693085	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127693085T>A	uc003kuu.2	-	c.2557A>T	c.(2557-2559)ATA>TTA	p.I853L	FBN2_uc003kuv.2_Missense_Mutation_p.I820L	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	853	EGF-like 13; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.430233	113.964156	114.328573	37	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127693085	127693085	5939	5	T	A	A	A	637	49	FBN2	3	3
FBN2	2201	broad.mit.edu	37	5	127744489	127744489	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:127744489A>T	uc003kuu.2	-	c.956T>A	c.(955-957)ATT>AAT	p.I319N	FBN2_uc003kuv.2_Missense_Mutation_p.I286N	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	319	EGF-like 5; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|kidney(1)|pancreas(1)	14		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)						1552				0.422222	243.07464	244.02383	76	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127744489	127744489	5939	5	A	T	T	T	52	4	FBN2	3	3
SLC27A6	28965	broad.mit.edu	37	5	128320926	128320926	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:128320926A>C	uc003kuy.2	+	c.582A>C	c.(580-582)AAA>AAC	p.K194N	SLC27A6_uc003kuz.2_Missense_Mutation_p.K194N	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	194					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)										0.140625	11.326732	19.316159	9	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128320926	128320926	15027	5	A	C	C	C	37	3	SLC27A6	4	4
ADAMTS19	171019	broad.mit.edu	37	5	129001264	129001264	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:129001264G>T	uc003kvb.1	+	c.2480G>T	c.(2479-2481)AGC>ATC	p.S827I	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	827	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)	8		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)						425				0.226415	28.872069	32.514487	12	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129001264	129001264	265	5	G	T	T	T	442	34	ADAMTS19	2	2
ADAMTS19	171019	broad.mit.edu	37	5	129030496	129030496	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:129030496A>C	uc003kvb.1	+	c.2884A>C	c.(2884-2886)ACC>CCC	p.T962P	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	962	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)	8		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)						425				0.209877	42.730256	49.039467	17	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129030496	129030496	265	5	A	C	C	C	26	2	ADAMTS19	4	4
P4HA2	8974	broad.mit.edu	37	5	131539500	131539500	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:131539500C>A	uc003kwh.2	-	c.1192G>T	c.(1192-1194)GTA>TTA	p.V398L	P4HA2_uc003kwg.2_Missense_Mutation_p.V398L|P4HA2_uc003kwi.2_Missense_Mutation_p.V398L|P4HA2_uc003kwk.2_Missense_Mutation_p.V398L|P4HA2_uc003kwl.2_Missense_Mutation_p.V398L|P4HA2_uc003kwj.2_Missense_Mutation_p.V398L	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	398					oxidation-reduction process	endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	Esophageal Squamous(68;117 1135 17362 19256 34242)								0.482759	44.570182	44.576275	14	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131539500	131539500	11770	5	C	A	A	A	260	20	P4HA2	2	2
PDLIM4	8572	broad.mit.edu	37	5	131606652	131606652	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:131606652T>C	uc003kwo.2	+	c.372T>C	c.(370-372)ACT>ACC	p.T124T	PDLIM4_uc003kwn.2_Silent_p.T124T|PDLIM4_uc003kwp.2_Silent_p.T124T	NM_003687	NP_003678	P50479	PDLI4_HUMAN	PDZ and LIM domain 4 isoform 1	124							protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)											0.186667	85.096628	105.742918	42	183	KEEP	---	---	---	---	capture		Silent	SNP	131606652	131606652	12103	5	T	C	C	C	704	55	PDLIM4	4	4
CATSPER3	347732	broad.mit.edu	37	5	134332105	134332105	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:134332105G>T	uc003lag.2	+	c.395G>T	c.(394-396)CGC>CTC	p.R132L		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	132	Helical; Name=Segment S3; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.550562	154.979971	155.179122	49	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134332105	134332105	2808	5	G	T	T	T	494	38	CATSPER3	1	1
LECT2	3950	broad.mit.edu	37	5	135288647	135288647	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:135288647C>A	uc003lbe.1	-	c.56G>T	c.(55-57)GGG>GTG	p.G19V		NM_002302	NP_002293	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2 precursor	19					chemotaxis|skeletal system development	cytoplasm|extracellular space				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)											0.452632	238.27803	238.65389	86	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135288647	135288647	9037	5	C	A	A	A	286	22	LECT2	2	2
SIL1	64374	broad.mit.edu	37	5	138282915	138282915	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:138282915T>A	uc003ldm.2	-	c.1277A>T	c.(1276-1278)CAG>CTG	p.Q426L	SIL1_uc003ldn.2_Missense_Mutation_p.Q425L|SIL1_uc003ldo.2_Missense_Mutation_p.Q426L|SIL1_uc003ldp.2_Missense_Mutation_p.Q426L	NM_022464	NP_071909	Q9H173	SIL1_HUMAN	SIL1 protein precursor	426					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)											0.615385	24.900539	25.051818	8	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138282915	138282915	14816	5	T	A	A	A	715	55	SIL1	3	3
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139907771	139907771	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:139907771G>T	uc003lfs.1	+	c.5240G>T	c.(5239-5241)GGT>GTT	p.G1747V	ANKHD1_uc003lfr.2_Missense_Mutation_p.G1747V|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.G486V|ANKHD1_uc003lfw.2_Missense_Mutation_p.G385V|ANKHD1_uc010jfl.2_Missense_Mutation_p.G182V|ANKHD1-EIF4EBP3_uc003lfx.1_5'UTR	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1747						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.448718	100.111634	100.290515	35	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139907771	139907771	632	5	G	T	T	T	572	44	ANKHD1-EIF4EBP3	2	2
PCDHA1	56147	broad.mit.edu	37	5	140166187	140166187	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140166187C>G	uc003lhb.2	+	c.312C>G	c.(310-312)ATC>ATG	p.I104M	PCDHA1_uc003lha.2_Missense_Mutation_p.I104M|PCDHA1_uc003lgz.2_Missense_Mutation_p.I104M	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	104	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.527778	132.457356	132.505952	38	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140166187	140166187	11939	5	C	G	G	G	382	30	PCDHA1	3	3
PCDHA1	56147	broad.mit.edu	37	5	140167097	140167097	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140167097G>A	uc003lhb.2	+	c.1222G>A	c.(1222-1224)GTG>ATG	p.V408M	PCDHA1_uc003lha.2_Missense_Mutation_p.V408M|PCDHA1_uc003lgz.2_Missense_Mutation_p.V408M	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	408	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.454545	195.368382	195.623881	65	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140167097	140167097	11939	5	G	A	A	A	572	44	PCDHA1	2	2
PCDHA6	56142	broad.mit.edu	37	5	140208439	140208439	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140208439G>T	uc003lho.2	+	c.763G>T	c.(763-765)GCA>TCA	p.A255S	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.A255S|PCDHA6_uc011dab.1_Missense_Mutation_p.A255S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	255	Cadherin 3.|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)											0.333333	71.348286	73.19419	25	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140208439	140208439	11948	5	G	T	T	T	598	46	PCDHA6	2	2
PCDHA7	56141	broad.mit.edu	37	5	140214162	140214162	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140214162G>T	uc003lhq.2	+	c.194G>T	c.(193-195)CGG>CTG	p.R65L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R65L	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	65	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			NSCLC(160;258 2013 5070 22440 28951)								0.370787	92.412009	93.692592	33	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140214162	140214162	11949	5	G	T	T	T	507	39	PCDHA7	1	1
PCDHA8	56140	broad.mit.edu	37	5	140222248	140222248	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140222248G>C	uc003lhs.2	+	c.1342G>C	c.(1342-1344)GTG>CTG	p.V448L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.V448L	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	448	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.324675	73.48148	75.565242	25	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140222248	140222248	11950	5	G	C	C	C	520	40	PCDHA8	3	3
PCDHA11	56138	broad.mit.edu	37	5	140250468	140250468	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140250468C>G	uc003lia.2	+	c.1780C>G	c.(1780-1782)CGC>GGC	p.R594G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R594G	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	594	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.333333	66.759754	68.540596	24	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140250468	140250468	11941	5	C	G	G	G	351	27	PCDHA11	3	3
PCDHA13	56136	broad.mit.edu	37	5	140263698	140263698	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140263698G>T	uc003lif.2	+	c.1845G>T	c.(1843-1845)GCG>GCT	p.A615A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.A615A|PCDHA13_uc003lid.2_Silent_p.A615A	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	615	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)								0.482759	124.06002	124.081176	42	45	KEEP	---	---	---	---	capture		Silent	SNP	140263698	140263698	11943	5	G	T	T	T	496	39	PCDHA13	1	1
PCDHB3	56132	broad.mit.edu	37	5	140481763	140481763	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140481763C>A	uc003lio.2	+	c.1530C>A	c.(1528-1530)AAC>AAA	p.N510K		NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3 precursor	510	Extracellular (Potential).|Cadherin 5.				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)											0.478723	148.188807	148.224334	45	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140481763	140481763	11963	5	C	A	A	A	246	19	PCDHB3	1	1
PCDHB4	56131	broad.mit.edu	37	5	140502962	140502962	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140502962A>C	uc003lip.1	+	c.1382A>C	c.(1381-1383)GAG>GCG	p.E461A		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	461	Cadherin 5.|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)											0.138614	17.200965	29.945074	14	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140502962	140502962	11964	5	A	C	C	C	143	11	PCDHB4	4	4
PCDHB5	26167	broad.mit.edu	37	5	140515358	140515358	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140515358G>C	uc003liq.2	+	c.342G>C	c.(340-342)GTG>GTC	p.V114V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	114	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.543307	234.087229	234.294936	69	58	KEEP	---	---	---	---	capture		Silent	SNP	140515358	140515358	11965	5	G	C	C	C	587	46	PCDHB5	3	3
PCDHB7	56129	broad.mit.edu	37	5	140552680	140552680	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140552680G>A	uc003lit.2	+	c.264G>A	c.(262-264)GAG>GAA	p.E88E		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	88	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.387755	117.426876	118.509001	38	60	KEEP	---	---	---	---	capture		Silent	SNP	140552680	140552680	11967	5	G	A	A	A	425	33	PCDHB7	2	2
PCDHB8	56128	broad.mit.edu	37	5	140559229	140559229	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140559229C>A	uc011dai.1	+	c.1614C>A	c.(1612-1614)GGC>GGA	p.G538G	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	538	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.452381	106.927266	107.094416	38	46	KEEP	---	---	---	---	capture		Silent	SNP	140559229	140559229	11968	5	C	A	A	A	353	28	PCDHB8	2	2
PCDHB14	56122	broad.mit.edu	37	5	140605066	140605066	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140605066G>T	uc003ljb.2	+	c.1989G>T	c.(1987-1989)GTG>GTT	p.V663V	PCDHB14_uc011dal.1_Silent_p.V510V	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	663	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			Ovarian(141;50 1831 27899 33809 37648)								0.136364	4.809212	7.626567	3	19	KEEP	---	---	---	---	capture		Silent	SNP	140605066	140605066	11959	5	G	T	T	T	600	47	PCDHB14	2	2
PCDHB15	56121	broad.mit.edu	37	5	140626793	140626793	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140626793G>C	uc003lje.2	+	c.1647G>C	c.(1645-1647)GTG>GTC	p.V549V		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	549	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.511628	71.656202	71.661531	22	21	KEEP	---	---	---	---	capture		Silent	SNP	140626793	140626793	11960	5	G	C	C	C	587	46	PCDHB15	3	3
TAF7	6879	broad.mit.edu	37	5	140698996	140698996	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140698996C>A	uc003ljg.2	-	c.616G>T	c.(616-618)GGT>TGT	p.G206C		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	206					negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of histone acetylation|negative regulation of protein kinase activity|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	general RNA polymerase II transcription factor activity|histone acetyltransferase binding|promoter binding|specific transcriptional repressor activity|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.48	76.59728	76.614704	24	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140698996	140698996	16053	5	C	A	A	A	273	21	TAF7	2	2
TAF7	6879	broad.mit.edu	37	5	140699320	140699320	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140699320T>C	uc003ljg.2	-	c.292A>G	c.(292-294)ACA>GCA	p.T98A		NM_005642	NP_005633	Q15545	TAF7_HUMAN	TATA box-binding protein-associated factor 2F	98					negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of histone acetylation|negative regulation of protein kinase activity|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	general RNA polymerase II transcription factor activity|histone acetyltransferase binding|promoter binding|specific transcriptional repressor activity|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.513158	113.20372	113.214665	39	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140699320	140699320	16053	5	T	C	C	C	767	59	TAF7	4	4
PCDHGA1	56114	broad.mit.edu	37	5	140711853	140711853	+	Silent	SNP	G	T	T	rs17097187	byFrequency;by1000genomes	TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140711853G>T	uc003lji.1	+	c.1602G>T	c.(1600-1602)GCG>GCT	p.A534A	PCDHGA1_uc011dan.1_Silent_p.A534A	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	534	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)											0.390625	218.684872	220.693879	75	117	KEEP	---	---	---	---	capture		Silent	SNP	140711853	140711853	11970	5	G	T	T	T	483	38	PCDHGA1	1	1
PCDHGA2	56113	broad.mit.edu	37	5	140719148	140719148	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140719148G>C	uc003ljk.1	+	c.610G>C	c.(610-612)GAA>CAA	p.E204Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.E204Q	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	204	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.483607	196.616278	196.64486	59	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140719148	140719148	11974	5	G	C	C	C	533	41	PCDHGA2	3	3
PCDHGA3	56112	broad.mit.edu	37	5	140725438	140725438	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140725438A>G	uc003ljm.1	+	c.1838A>G	c.(1837-1839)GAG>GGG	p.E613G	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.E373G|PCDHGA3_uc011dap.1_Missense_Mutation_p.E613G	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	613	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.5	56.14581	56.14581	18	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140725438	140725438	11975	5	A	G	G	G	143	11	PCDHGA3	4	4
PCDHGB2	56103	broad.mit.edu	37	5	140739827	140739827	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140739827C>A	uc003ljs.1	+	c.125C>A	c.(124-126)GCC>GAC	p.A42D	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_uc011dar.1_Missense_Mutation_p.A42D	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	42	Extracellular (Potential).|Cadherin 1.				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)									OREG0016857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.4	70.188019	70.712666	24	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140739827	140739827	11983	5	C	A	A	A	338	26	PCDHGB2	2	2
PCDHGB2	56103	broad.mit.edu	37	5	140740768	140740768	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140740768C>A	uc003ljs.1	+	c.1066C>A	c.(1066-1068)CTA>ATA	p.L356I	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_uc011dar.1_Missense_Mutation_p.L356I	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	356	Extracellular (Potential).|Cadherin 4.				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)											0.489362	140.519285	140.529158	46	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140740768	140740768	11983	5	C	A	A	A	311	24	PCDHGB2	2	2
PCDHGA6	56109	broad.mit.edu	37	5	140754020	140754020	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140754020G>T	uc003ljy.1	+	c.370G>T	c.(370-372)GTG>TTG	p.V124L	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_uc011dau.1_Missense_Mutation_p.V124L	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	124	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.428571	100.48215	100.819979	33	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140754020	140754020	11978	5	G	T	T	T	468	36	PCDHGA6	2	2
PCDHGA6	56109	broad.mit.edu	37	5	140755818	140755818	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140755818G>T	uc003ljy.1	+	c.2168G>T	c.(2167-2169)CGC>CTC	p.R723L	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_uc011dau.1_Missense_Mutation_p.R723L	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	723	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.47619	89.08183	89.108948	30	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140755818	140755818	11978	5	G	T	T	T	494	38	PCDHGA6	1	1
PCDHGB6	56100	broad.mit.edu	37	5	140787978	140787978	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140787978C>A	uc003lkj.1	+	c.209C>A	c.(208-210)GCG>GAG	p.A70E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.A70E	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	70	Extracellular (Potential).|Cadherin 1.				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)											0.44	66.553729	66.708273	22	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140787978	140787978	11987	5	C	A	A	A	351	27	PCDHGB6	1	1
PCDHGA12	26025	broad.mit.edu	37	5	140811613	140811613	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140811613C>T	uc003lkt.1	+	c.1287C>T	c.(1285-1287)ACC>ACT	p.T429T	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.T429T	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	429	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.444444	62.381276	62.503584	20	25	KEEP	---	---	---	---	capture		Silent	SNP	140811613	140811613	11973	5	C	T	T	T	275	22	PCDHGA12	2	2
PCDH12	51294	broad.mit.edu	37	5	141325203	141325203	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141325203G>A	uc003llx.2	-	c.3298C>T	c.(3298-3300)CCA>TCA	p.P1100S		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	1100	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.484848	97.395745	97.408832	32	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141325203	141325203	11930	5	G	A	A	A	559	43	PCDH12	2	2
RNF14	9604	broad.mit.edu	37	5	141354434	141354434	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:141354434G>T	uc003lly.2	+	c.220G>T	c.(220-222)GTG>TTG	p.V74L	RNF14_uc003llz.2_Missense_Mutation_p.V74L|RNF14_uc003lma.2_Missense_Mutation_p.V74L|RNF14_uc003lmb.2_Intron|RNF14_uc003lmc.2_Missense_Mutation_p.V74L|RNF14_uc011dbg.1_Missense_Mutation_p.V74L|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Missense_Mutation_p.V74L	NM_183399	NP_899646	Q9UBS8	RNF14_HUMAN	ring finger protein 14 isoform 1	74	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of gene-specific transcription|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription activator activity|transcription coactivator activity|zinc ion binding				0		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)										0.445205	203.65933	204.040763	65	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141354434	141354434	13920	5	G	T	T	T	624	48	RNF14	2	2
DPYSL3	1809	broad.mit.edu	37	5	146792222	146792222	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:146792222C>A	uc003loo.2	-	c.912G>T	c.(910-912)GAG>GAT	p.E304D	DPYSL3_uc003lon.1_Missense_Mutation_p.E190D	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	190					axon guidance|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.361111	37.067578	37.677744	13	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146792222	146792222	4932	5	C	A	A	A	363	28	DPYSL3	2	2
SH3TC2	79628	broad.mit.edu	37	5	148406949	148406949	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148406949C>A	uc003lpu.2	-	c.2346G>T	c.(2344-2346)CAG>CAT	p.Q782H	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.2_Missense_Mutation_p.Q426H|SH3TC2_uc003lps.2_Non-coding_Transcript|SH3TC2_uc003lpt.2_Missense_Mutation_p.Q329H|SH3TC2_uc010jgx.2_Missense_Mutation_p.Q775H|SH3TC2_uc003lpv.1_Missense_Mutation_p.Q329H|SH3TC2_uc011dbz.1_Missense_Mutation_p.Q667H	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	782	TPR 2.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.527273	86.672631	86.707912	29	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148406949	148406949	14754	5	C	A	A	A	311	24	SH3TC2	2	2
SH3TC2	79628	broad.mit.edu	37	5	148407710	148407710	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:148407710G>T	uc003lpu.2	-	c.1585C>A	c.(1585-1587)CGT>AGT	p.R529S	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.2_Missense_Mutation_p.R173S|SH3TC2_uc003lps.2_Non-coding_Transcript|SH3TC2_uc003lpt.2_Missense_Mutation_p.R76S|SH3TC2_uc010jgx.2_Missense_Mutation_p.R522S|SH3TC2_uc003lpv.1_Missense_Mutation_p.R76S|SH3TC2_uc011dbz.1_Missense_Mutation_p.R414S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	529	TPR 1.		R -> Q (in CMT4C; homozygous in 2 unrelated Turkish patients; also found in 1 of 320 Turkish control chromosomes).				binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.448864	245.630645	246.025879	79	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148407710	148407710	14754	5	G	T	T	T	507	39	SH3TC2	1	1
PDE6A	5145	broad.mit.edu	37	5	149324063	149324063	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149324063G>A	uc003lrg.3	-	c.174C>T	c.(172-174)AGC>AGT	p.S58S		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	58					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)											0.385714	76.007056	76.808645	27	43	KEEP	---	---	---	---	capture		Silent	SNP	149324063	149324063	12066	5	G	A	A	A	490	38	PDE6A	1	1
CSF1R	1436	broad.mit.edu	37	5	149456850	149456850	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149456850A>C	uc003lrl.2	-	c.878T>G	c.(877-879)TTC>TGC	p.F293C	CSF1R_uc011dcd.1_Missense_Mutation_p.F145C|CSF1R_uc010jhc.2_Non-coding_Transcript|CSF1R_uc003lrm.2_Missense_Mutation_p.F293C|CSF1R_uc011dce.1_Missense_Mutation_p.F293C|CSF1R_uc011dcf.1_Missense_Mutation_p.F293C	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	293	Extracellular (Potential).				cell proliferation|multicellular organismal development|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)					592				0.080645	3.673474	25.879833	10	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149456850	149456850	4073	5	A	C	C	C	117	9	CSF1R	4	4
PDGFRB	5159	broad.mit.edu	37	5	149515317	149515317	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149515317C>A	uc003lro.2	-	c.165G>T	c.(163-165)TCG>TCT	p.S55S	PDGFRB_uc010jhd.2_5'UTR|PDGFRB_uc011dcg.1_Silent_p.S55S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	55	Extracellular (Potential).|Ig-like C2-type 1.				cardiac myofibril assembly|cell chemotaxis|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(3)|large_intestine(1)|stomach(1)|breast(1)|ovary(1)	11		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)					880				0.404762	52.46903	52.801317	17	25	KEEP	---	---	---	---	capture		Silent	SNP	149515317	149515317	12083	5	C	A	A	A	288	23	PDGFRB	1	1
CDX1	1044	broad.mit.edu	37	5	149563052	149563052	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149563052C>T	uc003lrq.2	+	c.607C>T	c.(607-609)CAA>TAA	p.Q203*		NM_001804	NP_001795	P47902	CDX1_HUMAN	caudal type homeobox 1	203	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.333333	14.369802	14.73891	5	10	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	149563052	149563052	3311	5	C	T	T	T	273	21	CDX1	5	2
ARSI	340075	broad.mit.edu	37	5	149677043	149677043	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149677043G>A	uc003lrv.2	-	c.1444C>T	c.(1444-1446)CCT>TCT	p.P482S		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	482						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.56	40.950377	41.029848	14	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149677043	149677043	1012	5	G	A	A	A	546	42	ARSI	2	2
SYNPO	11346	broad.mit.edu	37	5	150028819	150028819	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150028819G>T	uc003lsn.2	+	c.1714G>T	c.(1714-1716)GCC>TCC	p.A572S	SYNPO_uc003lso.3_Missense_Mutation_p.A328S|SYNPO_uc003lsp.2_Missense_Mutation_p.A328S	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	572					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.508571	269.360381	269.371256	89	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150028819	150028819	15977	5	G	T	T	T	442	34	SYNPO	2	2
FAT2	2196	broad.mit.edu	37	5	150934205	150934205	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:150934205T>C	uc003lue.3	-	c.3663A>G	c.(3661-3663)TCA>TCG	p.S1221S	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1221	Extracellular (Potential).|Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)	4		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)											0.465839	209.386364	209.559774	75	86	KEEP	---	---	---	---	capture		Silent	SNP	150934205	150934205	5926	5	T	C	C	C	756	59	FAT2	4	4
SPARC	6678	broad.mit.edu	37	5	151046005	151046005	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151046005G>T	uc003luh.2	-	c.651C>A	c.(649-651)GCC>GCA	p.A217A	GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Silent_p.A51A|SPARC_uc003lui.2_Silent_p.A217A	NM_003118	NP_003109	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich	217					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)									0.508772	85.241648	85.244851	29	28	KEEP	---	---	---	---	capture		Silent	SNP	151046005	151046005	15503	5	G	T	T	T	548	43	SPARC	2	2
SPARC	6678	broad.mit.edu	37	5	151049241	151049241	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151049241G>A	uc003luh.2	-	c.435C>T	c.(433-435)TAC>TAT	p.Y145Y	GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_5'UTR|SPARC_uc003lui.2_Silent_p.Y145Y	NM_003118	NP_003109	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich	145	Kazal-like.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)									0.391304	76.107013	76.821736	27	42	KEEP	---	---	---	---	capture		Silent	SNP	151049241	151049241	15503	5	G	A	A	A	620	48	SPARC	2	2
GLRA1	2741	broad.mit.edu	37	5	151271938	151271938	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151271938C>A	uc003lut.2	-	c.118G>T	c.(118-120)GAT>TAT	p.D40Y	GLRA1_uc003lur.2_Missense_Mutation_p.D40Y|GLRA1_uc003lus.2_Intron	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	40	Extracellular (Probable).				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.485549	243.861966	243.894356	84	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151271938	151271938	6722	5	C	A	A	A	390	30	GLRA1	2	2
NMUR2	56923	broad.mit.edu	37	5	151784152	151784152	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151784152C>G	uc003luv.2	-	c.523G>C	c.(523-525)GTG>CTG	p.V175L		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	175	Helical; Name=4; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)											0.368421	104.565999	105.984585	35	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151784152	151784152	10910	5	C	G	G	G	247	19	NMUR2	3	3
NMUR2	56923	broad.mit.edu	37	5	151784488	151784488	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:151784488T>A	uc003luv.2	-	c.187A>T	c.(187-189)AAT>TAT	p.N63Y		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	63	Helical; Name=1; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)											0.367816	86.592298	87.960705	32	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151784488	151784488	10910	5	T	A	A	A	819	63	NMUR2	3	3
GRIA1	2890	broad.mit.edu	37	5	153054124	153054124	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153054124T>A	uc011dcy.1	+	c.794T>A	c.(793-795)CTG>CAG	p.L265Q	GRIA1_uc003lva.3_Missense_Mutation_p.L255Q|GRIA1_uc003luy.3_Missense_Mutation_p.L255Q|GRIA1_uc003luz.3_Missense_Mutation_p.L160Q|GRIA1_uc011dcv.1_Non-coding_Transcript|GRIA1_uc011dcw.1_Missense_Mutation_p.L175Q|GRIA1_uc011dcx.1_Missense_Mutation_p.L186Q|GRIA1_uc011dcz.1_Missense_Mutation_p.L265Q|GRIA1_uc010jia.1_Missense_Mutation_p.L235Q	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	255	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			ovary(4)|skin(1)	5		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)									0.511811	623.180892	623.229696	195	186	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153054124	153054124	7045	5	T	A	A	A	715	55	GRIA1	3	3
FAM114A2	10827	broad.mit.edu	37	5	153405995	153405995	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153405995C>A	uc003lvb.2	-	c.877G>T	c.(877-879)GCA>TCA	p.A293S	FAM114A2_uc003lvc.2_Missense_Mutation_p.A293S|FAM114A2_uc003lvd.2_Missense_Mutation_p.A293S|FAM114A2_uc003lve.2_Missense_Mutation_p.A109S|FAM114A2_uc011dda.1_Missense_Mutation_p.A223S	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	293	Potential.						purine nucleotide binding				0														0.425532	58.79008	59.017918	20	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153405995	153405995	5601	5	C	A	A	A	364	28	FAM114A2	2	2
FAM114A2	10827	broad.mit.edu	37	5	153414481	153414481	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153414481C>G	uc003lvb.2	-	c.33G>C	c.(31-33)CTG>CTC	p.L11L	FAM114A2_uc003lvc.2_Silent_p.L11L|FAM114A2_uc003lvd.2_Silent_p.L11L|FAM114A2_uc003lve.2_5'UTR|FAM114A2_uc011dda.1_Silent_p.L11L	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	11							purine nucleotide binding				0														0.396552	72.712082	73.255476	23	35	KEEP	---	---	---	---	capture		Silent	SNP	153414481	153414481	5601	5	C	G	G	G	314	25	FAM114A2	3	3
MFAP3	4238	broad.mit.edu	37	5	153432624	153432624	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:153432624T>C	uc003lvf.2	+	c.440T>C	c.(439-441)ATG>ACG	p.M147T	MFAP3_uc010jib.2_Missense_Mutation_p.M147T|MFAP3_uc011ddb.1_Missense_Mutation_p.M1T	NM_001135037	NP_001128509	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3 isoform 2	147	Extracellular (Potential).					integral to membrane|plasma membrane					0	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)										0.432099	92.961786	93.295436	35	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153432624	153432624	9905	5	T	C	C	C	663	51	MFAP3	4	4
LARP1	23367	broad.mit.edu	37	5	154185566	154185566	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154185566A>G	uc003lvp.2	+	c.2672A>G	c.(2671-2673)CAT>CGT	p.H891R	LARP1_uc003lvo.2_Missense_Mutation_p.H814R	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	891							protein binding|RNA binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.374269	185.704312	188.058847	64	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154185566	154185566	8951	5	A	G	G	G	104	8	LARP1	4	4
KIF4B	285643	broad.mit.edu	37	5	154393686	154393686	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:154393686G>T	uc010jih.1	+	c.267G>T	c.(265-267)CAG>CAT	p.Q89H		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	89	ATP (By similarity).|Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)											0.458065	207.399211	207.637484	71	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154393686	154393686	8615	5	G	T	T	T	425	33	KIF4B	2	2
TIMD4	91937	broad.mit.edu	37	5	156378688	156378688	+	Missense_Mutation	SNP	C	A	A	rs55920848	by1000genomes	TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156378688C>A	uc003lwh.2	-	c.514G>T	c.(514-516)GTG>TTG	p.V172L	TIMD4_uc010jii.2_Missense_Mutation_p.V172L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	172	Extracellular (Potential).|Thr-rich.					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.396783	445.084112	448.538124	148	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156378688	156378688	16432	5	C	A	A	A	247	19	TIMD4	1	1
FAM71B	153745	broad.mit.edu	37	5	156589529	156589529	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156589529G>T	uc003lwn.2	-	c.1747C>A	c.(1747-1749)CTG>ATG	p.L583M		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	583						nucleus				ovary(3)|pancreas(1)	4	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.430233	322.267509	323.365046	111	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156589529	156589529	5831	5	G	T	T	T	438	34	FAM71B	2	2
ADAM19	8728	broad.mit.edu	37	5	156917449	156917449	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156917449C>A	uc003lwz.2	-	c.2109G>T	c.(2107-2109)GTG>GTT	p.V703V	ADAM19_uc003lww.1_Silent_p.V436V|ADAM19_uc003lwy.2_Silent_p.V302V|ADAM19_uc011ddr.1_Silent_p.V634V	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19 preproprotein	703	Helical; (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)											0.450704	194.863794	195.165733	64	78	KEEP	---	---	---	---	capture		Silent	SNP	156917449	156917449	241	5	C	A	A	A	262	21	ADAM19	2	2
SOX30	11063	broad.mit.edu	37	5	157073743	157073743	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:157073743T>A	uc003lxb.1	-	c.1289A>T	c.(1288-1290)AAT>ATT	p.N430I	SOX30_uc003lxc.1_Missense_Mutation_p.N430I|SOX30_uc011dds.1_Missense_Mutation_p.N125I	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	430					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			Esophageal Squamous(31;525 799 19355 21125 41744)								0.103774	11.34525	27.909151	11	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157073743	157073743	15452	5	T	A	A	A	676	52	SOX30	3	3
FBXL7	23194	broad.mit.edu	37	5	15928113	15928113	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:15928113C>A	uc003jfn.1	+	c.242C>A	c.(241-243)ACC>AAC	p.T81N		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	81					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3														0.280488	55.787732	59.341746	23	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15928113	15928113	5961	5	C	A	A	A	234	18	FBXL7	2	2
ODZ2	57451	broad.mit.edu	37	5	167643788	167643788	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167643788A>C	uc010jjd.2	+	c.4067A>C	c.(4066-4068)AAG>ACG	p.K1356T	ODZ2_uc003lzr.3_Missense_Mutation_p.K1126T|ODZ2_uc003lzt.3_Missense_Mutation_p.K729T|ODZ2_uc010jje.2_Missense_Mutation_p.K620T	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.273973	50.063679	53.427211	20	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167643788	167643788	11240	5	A	C	C	C	39	3	ODZ2	4	4
ODZ2	57451	broad.mit.edu	37	5	167671430	167671430	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167671430T>C	uc010jjd.2	+	c.5499T>C	c.(5497-5499)CAT>CAC	p.H1833H	ODZ2_uc003lzr.3_Silent_p.H1603H|ODZ2_uc003lzt.3_Silent_p.H1206H|ODZ2_uc010jje.2_Silent_p.H1097H	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.258065	18.58623	20.230482	8	23	KEEP	---	---	---	---	capture		Silent	SNP	167671430	167671430	11240	5	T	C	C	C	660	51	ODZ2	4	4
ODZ2	57451	broad.mit.edu	37	5	167674989	167674989	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167674989G>T	uc010jjd.2	+	c.7018G>T	c.(7018-7020)GAC>TAC	p.D2340Y	ODZ2_uc003lzr.3_Missense_Mutation_p.D2110Y|ODZ2_uc003lzt.3_Missense_Mutation_p.D1713Y|ODZ2_uc010jje.2_Missense_Mutation_p.D1604Y	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.329268	74.095048	76.215127	27	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167674989	167674989	11240	5	G	T	T	T	481	37	ODZ2	1	1
DOCK2	1794	broad.mit.edu	37	5	169108836	169108836	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:169108836C>T	uc003maf.2	+	c.559C>T	c.(559-561)CAT>TAT	p.H187Y	DOCK2_uc011der.1_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	187					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)											0.420561	128.616208	129.189739	45	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169108836	169108836	4871	5	C	T	T	T	221	17	DOCK2	2	2
RANBP17	64901	broad.mit.edu	37	5	170668068	170668068	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:170668068G>T	uc003mba.2	+	c.2559G>T	c.(2557-2559)TTG>TTT	p.L853F	RANBP17_uc003mbb.2_Missense_Mutation_p.L178F|RANBP17_uc003mbd.2_Missense_Mutation_p.L216F|RANBP17_uc010jjs.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	853					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)							661				0.40836	390.878263	393.155739	127	184	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170668068	170668068	13487	5	G	T	T	T	620	48	RANBP17	2	2
SH3PXD2B	285590	broad.mit.edu	37	5	171766420	171766420	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:171766420C>T	uc003mbr.2	-	c.1689G>A	c.(1687-1689)ATG>ATA	p.M563I		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	563					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)	3	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)											0.465116	59.796	59.841529	20	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	171766420	171766420	14749	5	C	T	T	T	377	29	SH3PXD2B	2	2
BASP1	10409	broad.mit.edu	37	5	17275491	17275491	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:17275491G>C	uc003jfx.2	+	c.166G>C	c.(166-168)GAG>CAG	p.E56Q		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	56					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														0.3	19.142878	19.857182	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17275491	17275491	1338	5	G	C	C	C	533	41	BASP1	3	3
HRH2	3274	broad.mit.edu	37	5	175111181	175111181	+	Silent	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:175111181T>G	uc003mdc.3	+	c.945T>G	c.(943-945)ACT>ACG	p.T315T	HRH2_uc003mdd.2_Silent_p.T315T	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	histamine receptor H2 isoform 1	315	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)									0.155894	61.215035	90.978248	41	222	KEEP	---	---	---	---	capture		Silent	SNP	175111181	175111181	7648	5	T	G	G	G	717	56	HRH2	4	4
CPLX2	10814	broad.mit.edu	37	5	175306055	175306055	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:175306055G>A	uc003mde.1	+	c.176G>A	c.(175-177)CGG>CAG	p.R59Q	CPLX2_uc003mdf.1_Missense_Mutation_p.R59Q	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	complexin 2	59	Potential.|Interaction with the SNARE complex (By similarity).				mast cell degranulation|vesicle docking involved in exocytosis	cytosol				ovary(1)	1	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)											0.472222	48.856729	48.8817	17	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175306055	175306055	3943	5	G	A	A	A	507	39	CPLX2	1	1
C5orf25	375484	broad.mit.edu	37	5	175717056	175717056	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:175717056C>T	uc011dfk.1	+	c.529C>T	c.(529-531)CAG>TAG	p.Q177*	C5orf25_uc003mdt.3_Intron|C5orf25_uc003mds.3_Nonsense_Mutation_p.Q158*|C5orf25_uc003mdr.3_Intron	NM_198567	NP_940969	Q8NDZ2	CE025_HUMAN	hypothetical protein LOC375484	158	Ser-rich.										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)										0.44186	52.115339	52.242184	19	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	175717056	175717056	2386	5	C	T	T	T	209	17	C5orf25	5	2
CDHR2	54825	broad.mit.edu	37	5	176002107	176002107	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176002107G>A	uc003mem.1	+	c.518G>A	c.(517-519)AGC>AAC	p.S173N	CDHR2_uc003men.1_Missense_Mutation_p.S173N	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	173	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2														0.435897	52.868691	53.008516	17	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176002107	176002107	3248	5	G	A	A	A	442	34	CDHR2	2	2
CDHR2	54825	broad.mit.edu	37	5	176016154	176016154	+	Silent	SNP	C	A	A	rs116761490	by1000genomes	TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176016154C>A	uc003mem.1	+	c.2979C>A	c.(2977-2979)TCC>TCA	p.S993S	CDHR2_uc003men.1_Silent_p.S993S	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	993	Extracellular (Potential).|Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2														0.448113	299.235827	299.725017	95	117	KEEP	---	---	---	---	capture		Silent	SNP	176016154	176016154	3248	5	C	A	A	A	288	23	CDHR2	1	1
GPRIN1	114787	broad.mit.edu	37	5	176026278	176026278	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176026278C>A	uc003meo.1	-	c.558G>T	c.(556-558)GAG>GAT	p.E186D		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	186						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)											0.45	80.413883	80.545035	27	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176026278	176026278	7005	5	C	A	A	A	363	28	GPRIN1	2	2
ZNF346	23567	broad.mit.edu	37	5	176468840	176468840	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176468840A>T	uc003mfk.1	+	c.416A>T	c.(415-417)AAG>ATG	p.K139M	ZNF346_uc003mfi.2_Missense_Mutation_p.K114M|ZNF346_uc011dfr.1_Intron|ZNF346_uc011dfs.1_Intron|ZNF346_uc003mfj.2_Intron|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	zinc finger protein 346	114						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)											0.380952	23.894842	24.155954	8	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176468840	176468840	18452	5	A	T	T	T	39	3	ZNF346	3	3
DBN1	1627	broad.mit.edu	37	5	176894570	176894570	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:176894570C>A	uc003mgx.2	-	c.395G>T	c.(394-396)GGG>GTG	p.G132V	DBN1_uc003mgy.2_Missense_Mutation_p.G130V|DBN1_uc010jkn.1_Missense_Mutation_p.G80V|DBN1_uc003mgz.1_Missense_Mutation_p.G67V	NM_080881	NP_543157	Q16643	DREB_HUMAN	drebrin 1 isoform b	130	ADF-H.				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)	3	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)							168				0.75	8.227662	8.45073	3	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	176894570	176894570	4423	5	C	A	A	A	286	22	DBN1	2	2
ADAMTS2	9509	broad.mit.edu	37	5	178585742	178585742	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:178585742C>A	uc003mjw.2	-	c.1114G>T	c.(1114-1116)GGG>TGG	p.G372W	ADAMTS2_uc011dgm.1_Missense_Mutation_p.G372W	NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	372	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)						1974				0.351351	37.526451	38.220016	13	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178585742	178585742	266	5	C	A	A	A	273	21	ADAMTS2	2	2
OR2Y1	134083	broad.mit.edu	37	5	180166886	180166886	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180166886G>T	uc003mmf.1	-	c.173C>A	c.(172-174)CCT>CAT	p.P58H		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.382353	147.362921	149.014957	52	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	180166886	180166886	11441	5	G	T	T	T	455	35	OR2Y1	2	2
CDH12	1010	broad.mit.edu	37	5	21751862	21751862	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21751862G>A	uc010iuc.2	-	c.2369C>T	c.(2368-2370)CCT>CTT	p.P790L	CDH12_uc011cno.1_Missense_Mutation_p.P750L|CDH12_uc003jgk.2_Missense_Mutation_p.P790L	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	790	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.281046	121.875742	128.458618	43	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21751862	21751862	3227	5	G	A	A	A	455	35	CDH12	2	2
CDH12	1010	broad.mit.edu	37	5	21975282	21975282	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21975282G>T	uc010iuc.2	-	c.444C>A	c.(442-444)ATC>ATA	p.I148I	CDH12_uc011cno.1_Silent_p.I148I|CDH12_uc003jgk.2_Silent_p.I148I	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	148	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.491349	422.017843	422.037116	142	147	KEEP	---	---	---	---	capture		Silent	SNP	21975282	21975282	3227	5	G	T	T	T	577	45	CDH12	2	2
CDH12	1010	broad.mit.edu	37	5	21975417	21975418	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:21975417_21975418GG>TT	uc010iuc.2	-	c.308_309CC>AA	c.(307-309)ACC>AAA	p.T103K	CDH12_uc011cno.1_Missense_Mutation_p.T103K|CDH12_uc003jgk.2_Missense_Mutation_p.T103K	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	103	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2														0.434286	473.243009	474.559105	152	198	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	21975417	21975418	3227	5	GG	TT	TT	TT	600	47	CDH12	2	2
CDH10	1008	broad.mit.edu	37	5	24488111	24488112	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24488111_24488112CC>AA	uc003jgr.1	-	c.2027_2028GG>TT	c.(2026-2028)AGG>ATT	p.R676I	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	676	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)										0.47973	205.513564	205.564852	71	77	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	24488111	24488112	3225	5	CC	AA	AA	AA	389	30	CDH10	2	2
CDH10	1008	broad.mit.edu	37	5	24491723	24491723	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24491723G>T	uc003jgr.1	-	c.1838C>A	c.(1837-1839)GCC>GAC	p.A613D	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	613	Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.242038	90.124212	99.617583	38	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24491723	24491723	3225	5	G	T	T	T	546	42	CDH10	2	2
CDH10	1008	broad.mit.edu	37	5	24511552	24511552	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:24511552C>G	uc003jgr.1	-	c.886G>C	c.(886-888)GCT>CCT	p.A296P	CDH10_uc011cnu.1_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	296	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)										0.434599	330.253327	331.142564	103	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24511552	24511552	3225	5	C	G	G	G	325	25	CDH10	3	3
PDZD2	23037	broad.mit.edu	37	5	31799691	31799691	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:31799691T>A	uc003jhl.2	+	c.336T>A	c.(334-336)CCT>CCA	p.P112P	PDZD2_uc003jhm.2_Silent_p.P112P	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	112	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|large_intestine(1)	7														0.483871	235.60853	235.643905	75	80	KEEP	---	---	---	---	capture		Silent	SNP	31799691	31799691	12122	5	T	A	A	A	704	55	PDZD2	3	3
RAI14	26064	broad.mit.edu	37	5	34796101	34796102	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:34796101_34796102TG>AT	uc003jis.2	+	c.234_235TG>AT	c.(232-237)CATGGT>CAATGT	p.78_79HG>QC	RAI14_uc003jir.2_Missense_Mutation_p.75_76HG>QC|RAI14_uc010iur.2_Missense_Mutation_p.75_76HG>QC|RAI14_uc011coj.1_Missense_Mutation_p.75_76HG>QC|RAI14_uc010ius.1_Missense_Mutation_p.4_5HG>QC|RAI14_uc003jit.2_Missense_Mutation_p.75_76HG>QC|RAI14_uc011cok.1_Missense_Mutation_p.67_68HG>QC	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform d	75_76	ANK 2.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)													0.518732	561.153587	561.257884	180	167	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	34796101	34796102	13468	5	TG	AT	AT	AT	660	51	RAI14	3	3
RAD1	5810	broad.mit.edu	37	5	34911771	34911771	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:34911771C>A	uc003jix.2	-	c.454G>T	c.(454-456)GTT>TTT	p.V152F	RAD1_uc003jiw.2_Missense_Mutation_p.V43F|RAD1_uc003jiy.2_Missense_Mutation_p.V152F	NM_002853	NP_002844	O60671	RAD1_HUMAN	RAD1 homolog	152					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)											0.087912	2.02835	17.659376	8	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34911771	34911771	13437	5	C	A	A	A	221	17	RAD1	2	2
SKP2	6502	broad.mit.edu	37	5	36153042	36153042	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36153042G>T	uc003jkc.1	+	c.178G>T	c.(178-180)GGC>TGC	p.G60C	SKP2_uc011cou.1_5'UTR|SKP2_uc003jkd.2_Missense_Mutation_p.G60C|LMBRD2_uc003jkb.1_5'Flank	NM_005983	NP_005974	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2 isoform 1	60					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			central_nervous_system(2)|ovary(1)	3	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)							161				0.427273	136.357552	136.852077	47	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36153042	36153042	14857	5	G	T	T	T	559	43	SKP2	2	2
NIPBL	25836	broad.mit.edu	37	5	36962301	36962301	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36962301G>T	uc003jkl.3	+	c.535G>T	c.(535-537)GCC>TCC	p.A179S	NIPBL_uc003jkk.3_Missense_Mutation_p.A179S|NIPBL_uc003jkm.1_Missense_Mutation_p.A58S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	179					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of gene-specific transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding|transcription repressor activity			ovary(3)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	8	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)							934				0.249643	451.218279	491.088066	175	526	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36962301	36962301	10829	5	G	T	T	T	494	38	NIPBL	1	1
FYB	2533	broad.mit.edu	37	5	39135002	39135002	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39135002C>A	uc011cpl.1	-	c.1660G>T	c.(1660-1662)GAC>TAC	p.D554Y	FYB_uc003jls.2_Missense_Mutation_p.D544Y|FYB_uc003jlt.2_Missense_Mutation_p.D544Y|FYB_uc003jlu.2_Missense_Mutation_p.D544Y	NM_001465	NP_001456	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 1	544	SH3.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)											0.515556	689.178131	689.271802	232	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39135002	39135002	6375	5	C	A	A	A	416	32	FYB	2	2
DAB2	1601	broad.mit.edu	37	5	39377118	39377118	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39377118C>A	uc003jlx.2	-	c.1771G>T	c.(1771-1773)GGG>TGG	p.G591W	DAB2_uc003jlw.2_Missense_Mutation_p.G570W	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	591					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)									OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.307407	216.21354	225.149691	83	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39377118	39377118	4384	5	C	A	A	A	286	22	DAB2	2	2
DAB2	1601	broad.mit.edu	37	5	39383268	39383268	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39383268G>T	uc003jlx.2	-	c.793C>A	c.(793-795)CTT>ATT	p.L265I	DAB2_uc003jlw.2_Missense_Mutation_p.L244I	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	265					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)											0.493776	708.263967	708.281093	238	244	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39383268	39383268	4384	5	G	T	T	T	429	33	DAB2	2	2
PRKAA1	5562	broad.mit.edu	37	5	40798243	40798243	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:40798243T>C	uc003jmb.2	-	c.49A>G	c.(49-51)AAA>GAA	p.K17E	PRKAA1_uc003jmc.2_Missense_Mutation_p.K17E	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic	17					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)					149				0.581395	85.881949	86.130669	25	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40798243	40798243	12936	5	T	C	C	C	806	62	PRKAA1	4	4
HEATR7B2	133558	broad.mit.edu	37	5	41033262	41033262	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41033262C>A	uc003jmj.3	-	c.2242G>T	c.(2242-2244)GAC>TAC	p.D748Y	HEATR7B2_uc003jmi.3_Missense_Mutation_p.D303Y	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	748							binding			ovary(6)|central_nervous_system(2)	8														0.145038	27.998692	43.832426	19	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41033262	41033262	7318	5	C	A	A	A	390	30	HEATR7B2	2	2
AHRR	57491	broad.mit.edu	37	5	434498	434498	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:434498G>C	uc003jav.2	+	c.1709G>C	c.(1708-1710)TGT>TCT	p.C570S	AHRR_uc003jaw.2_Missense_Mutation_p.C548S|AHRR_uc010isy.2_Missense_Mutation_p.C398S|AHRR_uc010isz.2_Missense_Mutation_p.C548S|AHRR_uc003jax.2_Missense_Mutation_p.C311S|AHRR_uc003jay.2_Missense_Mutation_p.C408S|AHRR_uc003jaz.2_Missense_Mutation_p.C169S	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	552	Needed for transcriptional repression (By similarity).				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)											0.285714	25.288736	26.442171	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	434498	434498	420	5	G	C	C	C	624	48	AHRR	3	3
PARP8	79668	broad.mit.edu	37	5	50090165	50090165	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:50090165A>T	uc003jon.3	+	c.862A>T	c.(862-864)AGG>TGG	p.R288W	PARP8_uc011cpz.1_Missense_Mutation_p.R180W|PARP8_uc003joo.2_Missense_Mutation_p.R288W|PARP8_uc003jop.2_Missense_Mutation_p.R288W	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	288						intracellular	NAD+ ADP-ribosyltransferase activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;0.0305)|Breast(144;0.222)												0.488095	135.28511	135.294896	41	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50090165	50090165	11882	5	A	T	T	T	88	7	PARP8	3	3
PARP8	79668	broad.mit.edu	37	5	50117170	50117170	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:50117170A>T	uc003jon.3	+	c.1792A>T	c.(1792-1794)AGG>TGG	p.R598W	PARP8_uc011cpz.1_Missense_Mutation_p.R490W|PARP8_uc003joo.2_Missense_Mutation_p.R598W|PARP8_uc003jop.2_Intron	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	598						intracellular	NAD+ ADP-ribosyltransferase activity			large_intestine(1)|ovary(1)	2		Lung NSC(810;0.0305)|Breast(144;0.222)												0.375	129.023966	130.559735	42	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50117170	50117170	11882	5	A	T	T	T	88	7	PARP8	3	3
ADAMTS16	170690	broad.mit.edu	37	5	5186188	5186188	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5186188G>T	uc003jdl.2	+	c.787G>T	c.(787-789)GAC>TAC	p.D263Y	ADAMTS16_uc003jdk.1_Missense_Mutation_p.D263Y|ADAMTS16_uc003jdj.1_Missense_Mutation_p.D263Y	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	263					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.460208	382.505529	382.907605	133	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5186188	5186188	262	5	G	T	T	T	429	33	ADAMTS16	2	2
ITGA2	3673	broad.mit.edu	37	5	52347245	52347245	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52347245G>T	uc003joy.2	+	c.635G>T	c.(634-636)GGG>GTG	p.G212V	ITGA2_uc011cqa.1_Non-coding_Transcript|ITGA2_uc011cqb.1_Non-coding_Transcript|ITGA2_uc011cqc.1_Missense_Mutation_p.G136V|ITGA2_uc011cqd.1_Non-coding_Transcript|ITGA2_uc011cqe.1_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	212	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)												0.335766	122.404956	125.675637	46	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52347245	52347245	8179	5	G	T	T	T	559	43	ITGA2	2	2
ADAMTS16	170690	broad.mit.edu	37	5	5239336	5239336	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:5239336T>G	uc003jdl.2	+	c.2227T>G	c.(2227-2229)TCA>GCA	p.S743A	ADAMTS16_uc003jdk.1_Missense_Mutation_p.S743A|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	743	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8														0.06237	-45.169184	51.36909	30	451	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5239336	5239336	262	5	T	G	G	G	702	54	ADAMTS16	4	4
CDC20B	166979	broad.mit.edu	37	5	54415663	54415663	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:54415663G>T	uc003jpo.1	-	c.1425C>A	c.(1423-1425)ACC>ACA	p.T475T	CDC20B_uc003jpn.1_Silent_p.T475T|CDC20B_uc010ivu.1_Silent_p.T433T	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	CDC20 cell division cycle 20 homolog B isoform	475	WD 6.										0		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)											0.78355	1194.31953	1228.699923	362	100	KEEP	---	---	---	---	capture		Silent	SNP	54415663	54415663	3188	5	G	T	T	T	444	35	CDC20B	2	2
BDP1	55814	broad.mit.edu	37	5	70785278	70785278	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:70785278A>G	uc003kbp.1	+	c.1261A>G	c.(1261-1263)ATG>GTG	p.M421V	BDP1_uc003kbn.1_Missense_Mutation_p.M421V|BDP1_uc003kbo.2_Missense_Mutation_p.M421V	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	421	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)										0.357143	66.388186	67.393237	20	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70785278	70785278	1417	5	A	G	G	G	208	16	BDP1	4	4
BDP1	55814	broad.mit.edu	37	5	70797398	70797398	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:70797398G>T	uc003kbp.1	+	c.1966G>T	c.(1966-1968)GAA>TAA	p.E656*	BDP1_uc003kbn.1_Nonsense_Mutation_p.E656*|BDP1_uc003kbo.2_Nonsense_Mutation_p.E656*	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	656					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)										0.36	74.807482	76.100166	27	48	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70797398	70797398	1417	5	G	T	T	T	533	41	BDP1	5	2
ENC1	8507	broad.mit.edu	37	5	73931166	73931166	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:73931166C>A	uc003kdc.3	-	c.1145G>T	c.(1144-1146)GGC>GTC	p.G382V	ENC1_uc011css.1_Missense_Mutation_p.G309V	NM_003633	NP_003624	O14682	ENC1_HUMAN	ectodermal-neural cortex (with BTB-like domain)	382	Kelch 2.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			ovary(1)|pancreas(1)|skin(1)	3		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)										0.32	42.192973	43.626793	16	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73931166	73931166	5306	5	C	A	A	A	338	26	ENC1	2	2
GCNT4	51301	broad.mit.edu	37	5	74325437	74325437	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:74325437A>G	uc003kdn.2	-	c.426T>C	c.(424-426)GAT>GAC	p.D142D		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	core 2 beta-1,6-N-acetylglucosaminyltransferase	142	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)										0.494505	273.798141	273.803369	90	92	KEEP	---	---	---	---	capture		Silent	SNP	74325437	74325437	6569	5	A	G	G	G	102	8	GCNT4	4	4
IQGAP2	10788	broad.mit.edu	37	5	75932931	75932931	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75932931A>C	uc003kek.2	+	c.1853A>C	c.(1852-1854)AAA>ACA	p.K618T	IQGAP2_uc010izv.2_Missense_Mutation_p.K171T|IQGAP2_uc011csv.1_Missense_Mutation_p.K171T|IQGAP2_uc003kel.2_Missense_Mutation_p.K171T	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	618	WW.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)										0.12766	18.434918	31.13837	12	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75932931	75932931	8118	5	A	C	C	C	13	1	IQGAP2	4	4
ADCY2	108	broad.mit.edu	37	5	7727311	7727311	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:7727311A>T	uc003jdz.1	+	c.1808A>T	c.(1807-1809)TAT>TTT	p.Y603F	ADCY2_uc011cmo.1_Missense_Mutation_p.Y423F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	603	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)	6														0.502924	278.962643	278.964065	86	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7727311	7727311	295	5	A	T	T	T	208	16	ADCY2	3	3
CMYA5	202333	broad.mit.edu	37	5	79028116	79028116	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79028116A>T	uc003kgc.2	+	c.3528A>T	c.(3526-3528)TCA>TCT	p.S1176S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1176						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)										0.493333	242.56886	242.574113	74	76	KEEP	---	---	---	---	capture		Silent	SNP	79028116	79028116	3728	5	A	T	T	T	80	7	CMYA5	3	3
SPZ1	84654	broad.mit.edu	37	5	79616340	79616340	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79616340T>A	uc003kgn.2	+	c.306T>A	c.(304-306)ATT>ATA	p.I102I		NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	102	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(1)	1		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)										0.333333	46.457851	47.712558	17	34	KEEP	---	---	---	---	capture		Silent	SNP	79616340	79616340	15641	5	T	A	A	A	783	61	SPZ1	3	3
RASGRF2	5924	broad.mit.edu	37	5	80369088	80369088	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:80369088C>A	uc003kha.1	+	c.704C>A	c.(703-705)TCT>TAT	p.S235Y	RASGRF2_uc011ctn.1_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.S63Y	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	235					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)					p.P236del(SW48-Tumor)	847				0.402299	97.437385	98.181033	35	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80369088	80369088	13534	5	C	A	A	A	416	32	RASGRF2	2	2
EDIL3	10085	broad.mit.edu	37	5	83259139	83259139	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:83259139G>T	uc003kio.1	-	c.1178C>A	c.(1177-1179)ACA>AAA	p.T393K	EDIL3_uc003kip.1_Missense_Mutation_p.T383K	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	393	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)										0.444444	129.653541	129.883124	40	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83259139	83259139	5102	5	G	T	T	T	624	48	EDIL3	2	2
GPR98	84059	broad.mit.edu	37	5	89953810	89953810	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:89953810A>C	uc003kju.2	+	c.4467A>C	c.(4465-4467)AAA>AAC	p.K1489N	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1489	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)										0.365169	200.531288	203.37568	65	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89953810	89953810	6997	5	A	C	C	C	24	2	GPR98	4	4
GPR98	84059	broad.mit.edu	37	5	90020682	90020682	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:90020682G>A	uc003kju.2	+	c.9782G>A	c.(9781-9783)AGT>AAT	p.S3261N	GPR98_uc003kjt.2_Missense_Mutation_p.S967N|GPR98_uc003kjv.2_Missense_Mutation_p.S861N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3261	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)										0.141379	67.576741	103.557523	41	249	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90020682	90020682	6997	5	G	A	A	A	468	36	GPR98	2	2
SEMA5A	9037	broad.mit.edu	37	5	9052122	9052122	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:9052122G>T	uc003jek.2	-	c.2708C>A	c.(2707-2709)TCG>TAG	p.S903*		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	903	Extracellular (Potential).|TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2														0.46875	40.914513	40.941685	15	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	9052122	9052122	14523	5	G	T	T	T	481	37	SEMA5A	5	1
MCTP1	79772	broad.mit.edu	37	5	94046621	94046621	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:94046621C>A	uc003kkx.2	-	c.2732G>T	c.(2731-2733)TGG>TTG	p.W911L	MCTP1_uc003kkv.2_Missense_Mutation_p.W690L|MCTP1_uc003kkw.2_Missense_Mutation_p.W604L|MCTP1_uc003kku.2_Missense_Mutation_p.W427L	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	911					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)										0.511628	69.150075	69.155113	22	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94046621	94046621	9789	5	C	A	A	A	273	21	MCTP1	2	2
RIOK2	55781	broad.mit.edu	37	5	96503604	96503604	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:96503604C>A	uc003kmz.2	-	c.964G>T	c.(964-966)GAT>TAT	p.D322Y	RIOK2_uc003kna.3_Missense_Mutation_p.D322Y	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	RIO kinase 2 isoform 1	322	Protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)						222				0.449102	217.495083	217.8731	75	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96503604	96503604	13855	5	C	A	A	A	416	32	RIOK2	2	2
RIOK2	55781	broad.mit.edu	37	5	96513554	96513554	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:96513554T>A	uc003kmz.2	-	c.206_splice	c.e3-1	p.T69_splice	RIOK2_uc003kna.3_Splice_Site_SNP_p.T69_splice	NM_018343	NP_060813			RIO kinase 2 isoform 1						protein phosphorylation		ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)						222				0.454545	156.752798	156.948295	50	60	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	96513554	96513554	13855	5	T	A	A	A	689	53	RIOK2	5	3
ASCC3	10973	broad.mit.edu	37	6	101090599	101090599	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:101090599C>A	uc003pqk.2	-	c.3759G>T	c.(3757-3759)CTG>CTT	p.L1253L		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1253	SEC63 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)	5		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)										0.602941	267.077008	268.339325	82	54	KEEP	---	---	---	---	capture		Silent	SNP	101090599	101090599	1051	6	C	A	A	A	262	21	ASCC3	2	2
GRIK2	2898	broad.mit.edu	37	6	102134198	102134198	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:102134198C>A	uc003pqp.3	+	c.921C>A	c.(919-921)CCC>CCA	p.P307P	GRIK2_uc003pqn.2_Silent_p.P307P|GRIK2_uc003pqo.3_Silent_p.P307P|GRIK2_uc010kcw.2_Silent_p.P307P	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	307	Extracellular (Potential).				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|breast(1)|pancreas(1)	4		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)									0.264249	140.769808	150.4465	51	142	KEEP	---	---	---	---	capture		Silent	SNP	102134198	102134198	7053	6	C	A	A	A	288	23	GRIK2	1	1
SOBP	55084	broad.mit.edu	37	6	107955743	107955743	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:107955743C>A	uc003prx.2	+	c.1695C>A	c.(1693-1695)AAC>AAA	p.N565K		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	565							metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)										0.615385	53.206874	53.511344	16	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107955743	107955743	15412	6	C	A	A	A	246	19	SOBP	1	1
OSTM1	28962	broad.mit.edu	37	6	108372344	108372344	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:108372344C>A	uc003psd.2	-	c.674G>T	c.(673-675)CGT>CTT	p.R225L		NM_014028	NP_054747	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	225	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		Melanoma(162;1427 1909 3096 17430 21396)								0.352941	148.878654	151.463617	48	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108372344	108372344	11710	6	C	A	A	A	247	19	OSTM1	1	1
MICAL1	64780	broad.mit.edu	37	6	109771521	109771521	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:109771521C>A	uc011eaq.1	-	c.1230G>T	c.(1228-1230)GTG>GTT	p.V410V	MICAL1_uc003ptj.2_Silent_p.V391V|MICAL1_uc003ptk.2_Silent_p.V391V|MICAL1_uc010kdr.2_Intron	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	391					cytoskeleton organization|oxidation-reduction process|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)										0.237288	35.931632	39.644549	14	45	KEEP	---	---	---	---	capture		Silent	SNP	109771521	109771521	9959	6	C	A	A	A	262	21	MICAL1	2	2
AKD1	221264	broad.mit.edu	37	6	109819103	109819103	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:109819103G>A	uc003ptn.2	-	c.5112C>T	c.(5110-5112)GAC>GAT	p.D1704D	AKD1_uc011eas.1_Silent_p.D89D	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	adenylate kinase domain containing 1 isoform 1	1704					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1														0.289256	87.271467	92.091801	35	86	KEEP	---	---	---	---	capture		Silent	SNP	109819103	109819103	463	6	G	A	A	A	620	48	AKD1	2	2
GPR6	2830	broad.mit.edu	37	6	110300597	110300597	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110300597G>T	uc011eav.1	+	c.327G>T	c.(325-327)GTG>GTT	p.V109V	GPR6_uc011eaw.1_Silent_p.V94V|GPR6_uc003ptu.2_Silent_p.V94V	NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	94	Helical; Name=1; (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)										0.305085	140.403319	146.392687	54	123	KEEP	---	---	---	---	capture		Silent	SNP	110300597	110300597	6976	6	G	T	T	T	600	47	GPR6	2	2
ERVFRDE1	405754	broad.mit.edu	37	6	11105476	11105476	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:11105476G>T	uc003mzt.2	-	c.68C>A	c.(67-69)CCG>CAG	p.P23Q	LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron	NM_207582	NP_997465	P60508	EFR1_HUMAN	syncytin 2	23	Extracellular (Potential).					integral to membrane|plasma membrane|virion					0														0.274725	69.837467	73.995453	25	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11105476	11105476	5439	6	G	T	T	T	507	39	ERVFRDE1	1	1
SLC16A10	117247	broad.mit.edu	37	6	111543326	111543326	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:111543326A>T	uc003pus.2	+	c.1436A>T	c.(1435-1437)GAG>GTG	p.E479V	SLC16A10_uc003put.2_Missense_Mutation_p.E165V	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	solute carrier family 16, member 10	479	Extracellular (Potential).				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity				0		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)										0.277273	153.373382	163.201234	61	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111543326	111543326	14899	6	A	T	T	T	143	11	SLC16A10	3	3
WISP3	8838	broad.mit.edu	37	6	112386072	112386072	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:112386072C>T	uc003pvo.2	+	c.515C>T	c.(514-516)CCT>CTT	p.P172L	WISP3_uc003pvm.2_Missense_Mutation_p.P154L|WISP3_uc003pvn.2_Non-coding_Transcript	NM_198239	NP_937882	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	154					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding				0		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)										0.306069	334.04528	346.766243	116	263	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112386072	112386072	17948	6	C	T	T	T	312	24	WISP3	2	2
GPRC6A	222545	broad.mit.edu	37	6	117127867	117127867	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117127867G>T	uc003pxj.1	-	c.1001C>A	c.(1000-1002)TCC>TAC	p.S334Y	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.S334Y	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	334	Extracellular (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)										0.261364	107.584476	116.647869	46	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117127867	117127867	7004	6	G	T	T	T	533	41	GPRC6A	2	2
RFX6	222546	broad.mit.edu	37	6	117243247	117243247	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117243247A>C	uc003pxm.2	+	c.1370A>C	c.(1369-1371)AAG>ACG	p.K457T		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	457					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	promoter binding|protein binding|transcription activator activity			ovary(1)|pancreas(1)	2														0.205882	46.612019	54.799661	21	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117243247	117243247	13739	6	A	C	C	C	39	3	RFX6	4	4
ROS1	6098	broad.mit.edu	37	6	117609876	117609876	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117609876T>A	uc003pxp.1	-	c.6823A>T	c.(6823-6825)ATG>TTG	p.M2275L	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	2275	Cytoplasmic (Potential).				protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			ovary(5)|central_nervous_system(3)|stomach(2)|large_intestine(1)|lung(1)	12		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)						1038				0.394495	130.405459	131.466084	43	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117609876	117609876	14010	6	T	A	A	A	637	49	ROS1	3	3
HIVEP1	3096	broad.mit.edu	37	6	12120865	12120865	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:12120865A>T	uc003nac.2	+	c.837A>T	c.(835-837)TCA>TCT	p.S279S	HIVEP1_uc011diq.1_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	279					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)												0.306122	213.636969	221.847516	75	170	KEEP	---	---	---	---	capture		Silent	SNP	12120865	12120865	7477	6	A	T	T	T	80	7	HIVEP1	3	3
TRDN	10345	broad.mit.edu	37	6	123539850	123539850	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:123539850C>A	uc003pzj.1	-	c.2086G>T	c.(2086-2088)GGG>TGG	p.G696W	TRDN_uc010kem.1_Missense_Mutation_p.G197W	NM_006073	NP_006064	Q13061	TRDN_HUMAN	triadin	696	Lumenal.				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)										0.181818	21.715988	26.947435	10	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123539850	123539850	17012	6	C	A	A	A	273	21	TRDN	2	2
TRDN	10345	broad.mit.edu	37	6	123714767	123714767	+	Splice_Site_SNP	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:123714767A>G	uc003pzj.1	-	c.1105_splice	c.e13+1	p.A369_splice	TRDN_uc003pzk.1_Splice_Site_SNP_p.A370_splice|TRDN_uc003pzl.1_Splice_Site_SNP_p.A370_splice|TRDN_uc010kem.1_Intron	NM_006073	NP_006064			triadin						muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)										0.44	36.012357	36.091968	11	14	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	123714767	123714767	17012	6	A	G	G	G	182	14	TRDN	5	4
HEY2	23493	broad.mit.edu	37	6	126080920	126080920	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:126080920C>A	uc003qad.2	+	c.986C>A	c.(985-987)CCC>CAC	p.P329H	HEY2_uc011ebr.1_Missense_Mutation_p.P283H	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	329	YRPW motif.				negative regulation of gene-specific transcription from RNA polymerase II promoter|nervous system development|Notch signaling pathway|organ morphogenesis	nucleus	DNA binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)										0.34375	121.362145	124.121978	44	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126080920	126080920	7362	6	C	A	A	A	286	22	HEY2	2	2
C6orf58	352999	broad.mit.edu	37	6	127898552	127898552	+	Nonsense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:127898552T>G	uc003qbh.2	+	c.222T>G	c.(220-222)TAT>TAG	p.Y74*		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	hypothetical protein LOC352999 precursor	74						extracellular region					0				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)										0.074534	-0.01261	29.89256	12	149	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	127898552	127898552	2473	6	T	G	G	G	673	52	C6orf58	5	4
LAMA2	3908	broad.mit.edu	37	6	129601214	129601214	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129601214C>G	uc003qbn.2	+	c.2459C>G	c.(2458-2460)CCA>CGA	p.P820R	LAMA2_uc003qbo.2_Missense_Mutation_p.P820R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	820	Laminin EGF-like 7.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.509259	165.230269	165.238662	55	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129601214	129601214	8929	6	C	G	G	G	273	21	LAMA2	3	3
LAMA2	3908	broad.mit.edu	37	6	129618940	129618940	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129618940T>C	uc003qbn.2	+	c.2967T>C	c.(2965-2967)CCT>CCC	p.P989P	LAMA2_uc003qbo.2_Silent_p.P989P	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	989	Laminin EGF-like 10.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.358209	68.485122	69.66955	24	43	KEEP	---	---	---	---	capture		Silent	SNP	129618940	129618940	8929	6	T	C	C	C	704	55	LAMA2	4	4
LAMA2	3908	broad.mit.edu	37	6	129802528	129802528	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129802528T>C	uc003qbn.2	+	c.7693T>C	c.(7693-7695)TTG>CTG	p.L2565L	LAMA2_uc003qbo.2_Silent_p.L2561L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	2565	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.368	293.540382	297.367308	92	158	KEEP	---	---	---	---	capture		Silent	SNP	129802528	129802528	8929	6	T	C	C	C	829	64	LAMA2	4	4
LAMA2	3908	broad.mit.edu	37	6	129835579	129835579	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129835579C>A	uc003qbn.2	+	c.9050C>A	c.(9049-9051)CCA>CAA	p.P3017Q	LAMA2_uc003qbo.2_Missense_Mutation_p.P3013Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	3017	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.291139	125.196625	131.365002	46	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129835579	129835579	8929	6	C	A	A	A	273	21	LAMA2	2	2
C6orf191	253582	broad.mit.edu	37	6	130154670	130154670	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130154670A>G	uc003qbs.2	-	c.254T>C	c.(253-255)GTG>GCG	p.V85A		NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	hypothetical protein LOC253582	85	Helical; (Potential).					integral to membrane				large_intestine(1)	1				GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)										0.24	129.033015	142.924599	54	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130154670	130154670	2453	6	A	G	G	G	78	6	C6orf191	4	4
SAMD3	154075	broad.mit.edu	37	6	130505333	130505333	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:130505333C>A	uc003qbv.2	-	c.570_splice	c.e8-1	p.L190_splice	SAMD3_uc003qbx.2_Splice_Site_SNP_p.L190_splice|SAMD3_uc003qbw.2_Splice_Site_SNP_p.L190_splice|SAMD3_uc010kfg.1_Splice_Site_SNP_p.L190_splice|SAMD3_uc003qby.2_Splice_Site_SNP_p.L190_splice|SAMD3_uc003qbz.1_Splice_Site_SNP_p.L149_splice	NM_001017373	NP_001017373			sterile alpha motif domain containing 3 isoform											ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)										0.313131	161.713912	167.850023	62	136	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	130505333	130505333	14300	6	C	A	A	A	312	24	SAMD3	5	2
EPB41L2	2037	broad.mit.edu	37	6	131277553	131277553	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:131277553C>T	uc003qch.2	-	c.73G>A	c.(73-75)GAA>AAA	p.E25K	EPB41L2_uc003qcg.1_Missense_Mutation_p.E25K|EPB41L2_uc011eby.1_Missense_Mutation_p.E25K|EPB41L2_uc003qci.2_Missense_Mutation_p.E25K|EPB41L2_uc010kfk.2_Missense_Mutation_p.E25K|EPB41L2_uc010kfl.1_Missense_Mutation_p.E25K	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	25					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)										0.074236	-4.97733	37.626494	17	212	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131277553	131277553	5346	6	C	T	T	T	390	30	EPB41L2	2	2
MOXD1	26002	broad.mit.edu	37	6	132694056	132694056	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132694056C>A	uc003qdf.2	-	c.492G>T	c.(490-492)AGG>AGT	p.R164S	MOXD1_uc003qde.2_Missense_Mutation_p.R96S	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1 isoform 2	164	Lumenal (Potential).				catecholamine metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			ovary(1)	1	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)										0.651163	265.123108	267.720758	84	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132694056	132694056	10112	6	C	A	A	A	285	22	MOXD1	2	2
TAAR8	83551	broad.mit.edu	37	6	132873854	132873854	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:132873854C>A	uc011ecj.1	+	c.23C>A	c.(22-24)CCT>CAT	p.P8H		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	8	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)										0.231481	61.617814	68.752572	25	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132873854	132873854	16014	6	C	A	A	A	312	24	TAAR8	2	2
TCF21	6943	broad.mit.edu	37	6	134210962	134210962	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:134210962G>T	uc003qei.3	+	c.427G>T	c.(427-429)GGG>TGG	p.G143W	TCF21_uc003qej.2_Missense_Mutation_p.G143W	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	143					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)						20				0.509709	322.200376	322.216051	105	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134210962	134210962	16217	6	G	T	T	T	507	39	TCF21	1	1
SGK1	6446	broad.mit.edu	37	6	134494448	134494448	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:134494448T>G	uc003qeo.3	-	c.666A>C	c.(664-666)AAA>AAC	p.K222N	SGK1_uc011ect.1_Missense_Mutation_p.K117N|SGK1_uc003qen.3_Missense_Mutation_p.K127N|SGK1_uc011ecu.1_Missense_Mutation_p.K127N|SGK1_uc011ecv.1_Missense_Mutation_p.K141N|SGK1_uc011ecw.1_Missense_Mutation_p.K155N	NM_001143676	NP_001137148	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1 isoform	127	Protein kinase.	ATP (By similarity).		K->M: Abolishes enzymatic activity.	apoptosis|protein phosphorylation|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|central_nervous_system(1)	3	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)						161				0.270588	57.482061	61.521619	23	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134494448	134494448	14698	6	T	G	G	G	725	56	SGK1	4	4
MYB	4602	broad.mit.edu	37	6	135520132	135520132	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:135520132T>A	uc003qfh.2	+	c.1653T>A	c.(1651-1653)ACT>ACA	p.T551T	MYB_uc003qfc.2_Silent_p.T430T|MYB_uc003qfi.2_Silent_p.T535T|MYB_uc010kgi.2_Silent_p.T430T|MYB_uc003qfq.2_Silent_p.T548T|MYB_uc010kgj.2_Silent_p.T395T|MYB_uc003qfo.2_Silent_p.T345T|MYB_uc003qfu.2_Silent_p.T427T|MYB_uc003qfl.2_Non-coding_Transcript|MYB_uc003qfv.2_Non-coding_Transcript|MYB_uc003qfz.2_Non-coding_Transcript|MYB_uc003qfx.2_Non-coding_Transcript|MYB_uc003qga.2_Non-coding_Transcript|MYB_uc003qgb.2_Non-coding_Transcript|MYB_uc010kgk.2_Non-coding_Transcript|MYB_uc003qfd.2_Non-coding_Transcript|MYB_uc003qfe.2_Non-coding_Transcript|MYB_uc003qfg.2_Non-coding_Transcript|MYB_uc003qff.2_Non-coding_Transcript|MYB_uc003qfj.2_Non-coding_Transcript|MYB_uc003qfm.2_Non-coding_Transcript|MYB_uc003qfp.2_Non-coding_Transcript|MYB_uc003qfn.2_Non-coding_Transcript|MYB_uc003qfk.2_Non-coding_Transcript|MYB_uc003qfr.2_Non-coding_Transcript|MYB_uc003qfs.2_Silent_p.T56T|MYB_uc003qft.2_Non-coding_Transcript|MYB_uc003qfw.2_Silent_p.T242T|MYB_uc003qfy.2_Non-coding_Transcript|MYB_uc003qgc.2_Non-coding_Transcript|MYB_uc003qfb.1_Silent_p.T430T	NM_001130173	NP_001123645	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	487					blood coagulation|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding|specific transcriptional repressor activity|transcription activator activity			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)						299				0.670886	183.301008	185.34572	53	26	KEEP	---	---	---	---	capture		Silent	SNP	135520132	135520132	10402	6	T	A	A	A	704	55	MYB	3	3
RNF182	221687	broad.mit.edu	37	6	13977560	13977560	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:13977560G>T	uc003nbe.2	+	c.210G>T	c.(208-210)GAG>GAT	p.E70D	RNF182_uc003nbf.2_Missense_Mutation_p.E70D|RNF182_uc003nbg.2_Missense_Mutation_p.E70D	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	70						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)											0.261364	153.969301	167.653466	69	195	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13977560	13977560	13943	6	G	T	T	T	425	33	RNF182	2	2
HIVEP2	3097	broad.mit.edu	37	6	143091672	143091672	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:143091672C>A	uc003qjd.2	-	c.4204G>T	c.(4204-4206)GAG>TAG	p.E1402*		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		Esophageal Squamous(107;843 1510 13293 16805 42198)								0.550725	109.591319	109.75458	38	31	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	143091672	143091672	7478	6	C	A	A	A	390	30	HIVEP2	5	2
UTRN	7402	broad.mit.edu	37	6	144806607	144806607	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:144806607C>T	uc003qkt.2	+	c.3774C>T	c.(3772-3774)AGC>AGT	p.S1258S		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1258	Spectrin 9.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)										0.318919	150.504906	155.873091	59	126	KEEP	---	---	---	---	capture		Silent	SNP	144806607	144806607	17668	6	C	T	T	T	324	25	UTRN	2	2
GRM1	2911	broad.mit.edu	37	6	146480564	146480564	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146480564A>C	uc010khw.1	+	c.781A>C	c.(781-783)ATC>CTC	p.I261L	GRM1_uc010khu.1_Missense_Mutation_p.I261L|GRM1_uc010khv.1_Missense_Mutation_p.I261L|GRM1_uc003qll.2_Missense_Mutation_p.I261L|GRM1_uc011edz.1_Missense_Mutation_p.I261L|GRM1_uc011eea.1_Missense_Mutation_p.I261L	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	261	Extracellular (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)									0.284444	192.546599	201.907121	64	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146480564	146480564	7075	6	A	C	C	C	52	4	GRM1	4	4
SASH1	23328	broad.mit.edu	37	6	148795358	148795359	+	Splice_Site_DNP	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:148795358_148795359GG>TT	uc003qme.1	+	c.627_splice	c.e7+1	p.R209_splice		NM_015278	NP_056093			SAM and SH3 domain containing 1								protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)										0.317073	38.478589	39.688742	13	28	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	148795358	148795359	14329	6	GG	TT	TT	TT	555	43	SASH1	5	2
NUP43	348995	broad.mit.edu	37	6	150064774	150064774	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:150064774C>G	uc003qmz.2	-	c.321G>C	c.(319-321)CAG>CAC	p.Q107H	NUP43_uc011eee.1_Non-coding_Transcript|NUP43_uc011eef.1_Missense_Mutation_p.Q107H	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	107	WD 2.				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)										0.25	7.889036	8.801361	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150064774	150064774	11170	6	C	G	G	G	311	24	NUP43	3	3
C6orf97	80129	broad.mit.edu	37	6	151939225	151939225	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:151939225A>T	uc003qol.2	+	c.2091A>T	c.(2089-2091)AAA>AAT	p.K697N		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	697											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)						349				0.308943	103.998638	108.003205	38	85	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151939225	151939225	2481	6	A	T	T	T	37	3	C6orf97	3	3
SYNE1	23345	broad.mit.edu	37	6	152706953	152706953	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152706953T>A	uc010kiw.2	-	c.8508A>T	c.(8506-8508)GAA>GAT	p.E2836D	SYNE1_uc003qot.3_Missense_Mutation_p.E2843D|SYNE1_uc003qou.3_Missense_Mutation_p.E2836D|SYNE1_uc010kjb.1_Missense_Mutation_p.E2819D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2836	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)										0.066964	-11.060895	32.467499	15	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152706953	152706953	15966	6	T	A	A	A	725	56	SYNE1	3	3
SYNE1	23345	broad.mit.edu	37	6	152765658	152765658	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152765658T>G	uc010kiw.2	-	c.3725A>C	c.(3724-3726)AAA>ACA	p.K1242T	SYNE1_uc003qot.3_Missense_Mutation_p.K1249T|SYNE1_uc003qou.3_Missense_Mutation_p.K1242T|SYNE1_uc010kjb.1_Missense_Mutation_p.K1225T|SYNE1_uc003qow.2_Missense_Mutation_p.K537T|SYNE1_uc003qox.1_Missense_Mutation_p.K758T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1242	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)										0.301205	66.729446	69.6692	25	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152765658	152765658	15966	6	T	G	G	G	832	64	SYNE1	4	4
SYNE1	23345	broad.mit.edu	37	6	152771934	152771934	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152771934C>A	uc010kiw.2	-	c.3221G>T	c.(3220-3222)TGT>TTT	p.C1074F	SYNE1_uc003qot.3_Missense_Mutation_p.C1081F|SYNE1_uc003qou.3_Missense_Mutation_p.C1074F|SYNE1_uc010kjb.1_Missense_Mutation_p.C1057F|SYNE1_uc003qow.2_Missense_Mutation_p.C369F|SYNE1_uc003qox.1_Missense_Mutation_p.C590F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1074	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)										0.270531	295.808916	315.477994	112	302	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152771934	152771934	15966	6	C	A	A	A	221	17	SYNE1	2	2
SYNE1	23345	broad.mit.edu	37	6	152782765	152782765	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152782765C>G	uc010kiw.2	-	c.2361G>C	c.(2359-2361)GCG>GCC	p.A787A	SYNE1_uc003qot.3_Silent_p.A794A|SYNE1_uc003qou.3_Silent_p.A787A|SYNE1_uc010kjb.1_Silent_p.A770A|SYNE1_uc003qow.2_Silent_p.A82A|SYNE1_uc003qox.1_Silent_p.A303A|SYNE1_uc003qoz.2_Silent_p.A219A|SYNE1_uc003qoy.2_Silent_p.A354A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	787	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)										0.244755	98.369392	106.845685	35	108	KEEP	---	---	---	---	capture		Silent	SNP	152782765	152782765	15966	6	C	G	G	G	392	31	SYNE1	3	3
OPRM1	4988	broad.mit.edu	37	6	154412236	154412236	+	Missense_Mutation	SNP	C	T	T	rs17174822		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:154412236C>T	uc011efe.1	+	c.1072C>T	c.(1072-1074)CGC>TGC	p.R358C	OPRM1_uc011efc.1_Missense_Mutation_p.R184C|OPRM1_uc011efd.1_Missense_Mutation_p.R165C|OPRM1_uc003qpn.2_Missense_Mutation_p.R265C|OPRM1_uc003qpo.1_Missense_Mutation_p.R265C|OPRM1_uc011eff.1_Missense_Mutation_p.R265C|OPRM1_uc011efg.1_Missense_Mutation_p.R265C|OPRM1_uc011efh.1_Missense_Mutation_p.R265C|OPRM1_uc003qpq.1_Missense_Mutation_p.R265C|OPRM1_uc003qpr.2_Missense_Mutation_p.R265C|OPRM1_uc003qpt.1_Missense_Mutation_p.R265C|OPRM1_uc011efi.1_Missense_Mutation_p.R265C|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.R165C|OPRM1_uc003qpu.2_Missense_Mutation_p.R165C	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	opioid receptor, mu 1 isoform MOR-1H	265	Cytoplasmic (Potential).				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			ovary(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)									0.629808	439.100476	442.206352	131	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154412236	154412236	11293	6	C	T	T	T	299	23	OPRM1	1	1
RBM16	22828	broad.mit.edu	37	6	155153580	155153580	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:155153580C>T	uc011efj.1	+	c.3065C>T	c.(3064-3066)TCG>TTG	p.S1022L	TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efk.1_Missense_Mutation_p.S1001L|RBM16_uc003qqa.2_Missense_Mutation_p.S956L|RBM16_uc003qpz.2_Missense_Mutation_p.S956L|RBM16_uc010kji.2_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	956	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding				0		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)										0.284	375.04735	395.994473	142	358	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155153580	155153580	13579	6	C	T	T	T	403	31	RBM16	1	1
SYNJ2	8871	broad.mit.edu	37	6	158497793	158497793	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:158497793A>G	uc003qqx.1	+	c.2428A>G	c.(2428-2430)AAA>GAA	p.K810E	SYNJ2_uc003qqw.1_Missense_Mutation_p.K810E|SYNJ2_uc003qqy.1_Missense_Mutation_p.K523E|SYNJ2_uc003qqz.1_Missense_Mutation_p.K427E|SYNJ2_uc003qra.1_Missense_Mutation_p.K153E	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	810	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)										0.6125	164.192261	165.08153	49	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158497793	158497793	15974	6	A	G	G	G	117	9	SYNJ2	4	4
TULP4	56995	broad.mit.edu	37	6	158873181	158873181	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:158873181A>G	uc003qrf.2	+	c.740A>G	c.(739-741)TAT>TGT	p.Y247C	TULP4_uc011efo.1_Missense_Mutation_p.Y247C|TULP4_uc003qrg.2_Missense_Mutation_p.Y247C	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	247					intracellular signal transduction|regulation of transcription, DNA-dependent|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)										0.239521	104.208815	114.491536	40	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158873181	158873181	17331	6	A	G	G	G	208	16	TULP4	4	4
RSPH3	83861	broad.mit.edu	37	6	159403567	159403567	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159403567C>A	uc003qrx.2	-	c.1072G>T	c.(1072-1074)GCT>TCT	p.A358S	RSPH3_uc010kju.2_Missense_Mutation_p.A262S|RSPH3_uc003qry.1_Missense_Mutation_p.A358S	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	358	Potential.									ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)										0.272727	48.223492	51.294559	18	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159403567	159403567	14185	6	C	A	A	A	325	25	RSPH3	2	2
TAGAP	117289	broad.mit.edu	37	6	159457474	159457474	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159457474G>T	uc003qrz.2	-	c.1581C>A	c.(1579-1581)GGC>GGA	p.G527G	TAGAP_uc011eft.1_Silent_p.G464G|TAGAP_uc003qsa.2_Silent_p.G349G	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	527					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)										0.48366	222.218955	222.255303	74	79	KEEP	---	---	---	---	capture		Silent	SNP	159457474	159457474	16058	6	G	T	T	T	431	34	TAGAP	2	2
TAGAP	117289	broad.mit.edu	37	6	159459194	159459194	+	Missense_Mutation	SNP	G	T	T	rs112913154		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:159459194G>T	uc003qrz.2	-	c.850C>A	c.(850-852)CAT>AAT	p.H284N	TAGAP_uc011eft.1_Missense_Mutation_p.H221N|TAGAP_uc003qsa.2_Missense_Mutation_p.H106N	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	284					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)										0.231707	136.615371	152.872128	57	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159459194	159459194	16058	6	G	T	T	T	598	46	TAGAP	2	2
SLC22A2	6582	broad.mit.edu	37	6	160662577	160662577	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160662577C>A	uc003qte.1	-	c.1430G>T	c.(1429-1431)GGT>GTT	p.G477V	SLC22A2_uc003qtf.2_Missense_Mutation_p.G477V	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	477	Helical; (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)										0.301471	109.795934	114.54234	41	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160662577	160662577	14947	6	C	A	A	A	234	18	SLC22A2	2	2
LPA	4018	broad.mit.edu	37	6	160961173	160961173	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160961173G>T	uc003qtl.2	-	c.5637C>A	c.(5635-5637)CAC>CAA	p.H1879Q		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4387	Peptidase S1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.336391	309.441467	317.140371	110	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160961173	160961173	9276	6	G	T	T	T	568	44	LPA	2	2
LPA	4018	broad.mit.edu	37	6	160998291	160998291	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:160998291T>C	uc003qtl.2	-	c.4508A>G	c.(4507-4509)TAC>TGC	p.Y1503C		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4011	Kringle 36.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.299003	279.884093	290.721545	90	211	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160998291	160998291	9276	6	T	C	C	C	741	57	LPA	4	4
LPA	4018	broad.mit.edu	37	6	161027647	161027647	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161027647C>A	uc003qtl.2	-	c.2647G>T	c.(2647-2649)GCC>TCC	p.A883S		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3391	Kringle 30.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|pancreas(1)	4		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)									0.353887	357.183352	364.204736	132	241	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161027647	161027647	9276	6	C	A	A	A	364	28	LPA	2	2
PRL	5617	broad.mit.edu	37	6	22287778	22287778	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:22287778C>G	uc003ndo.2	-	c.540G>C	c.(538-540)TCG>TCC	p.S180S	PRL_uc003ndp.2_Silent_p.S179S|PRL_uc003ndq.2_Silent_p.S179S	NM_001163558	NP_001157030	P01236	PRL_HUMAN	prolactin precursor	179					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)													0.245902	74.195433	81.366635	30	92	KEEP	---	---	---	---	capture		Silent	SNP	22287778	22287778	12971	6	C	G	G	G	288	23	PRL	3	3
FAM65B	9750	broad.mit.edu	37	6	24848321	24848321	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:24848321G>T	uc003neo.1	-	c.1009C>A	c.(1009-1011)CAG>AAG	p.Q337K	FAM65B_uc011djs.1_Missense_Mutation_p.Q366K|FAM65B_uc011dju.1_Missense_Mutation_p.Q371K|FAM65B_uc003nep.2_Missense_Mutation_p.Q337K|FAM65B_uc011djt.1_Missense_Mutation_p.Q337K	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	hypothetical protein LOC9750 isoform 1	337					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			ovary(1)	1														0.430233	105.54685	105.914254	37	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24848321	24848321	5823	6	G	T	T	T	585	45	FAM65B	2	2
LRRC16A	55604	broad.mit.edu	37	6	25610328	25610328	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:25610328G>T	uc011djw.1	+	c.3898G>T	c.(3898-3900)GTC>TTC	p.V1300F	LRRC16A_uc010jpx.2_Missense_Mutation_p.V1255F|LRRC16A_uc010jpy.2_Missense_Mutation_p.V1294F	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1300					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4														0.25	133.156611	144.516684	50	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25610328	25610328	9345	6	G	T	T	T	624	48	LRRC16A	2	2
HIST1H3A	8350	broad.mit.edu	37	6	26020720	26020720	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26020720G>T	uc003nfp.1	+	c.3G>T	c.(1-3)ATG>ATT	p.M1I	HIST1H1A_uc003nfo.2_5'Flank|HIST1H4A_uc003nfq.2_5'Flank	NM_003529	NP_003520	P68431	H31_HUMAN	histone cluster 1, H3a	1					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)|pancreas(1)	2														0.357143	59.585369	60.59161	20	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26020720	26020720	7440	6	G	T	T	T	611	47	HIST1H3A	2	2
OR2W1	26692	broad.mit.edu	37	6	29012534	29012534	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29012534A>T	uc003nlw.2	-	c.419T>A	c.(418-420)CTA>CAA	p.L140Q		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	140	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.253807	126.856658	137.695658	50	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29012534	29012534	11438	6	A	T	T	T	195	15	OR2W1	3	3
OR2B3	442184	broad.mit.edu	37	6	29054325	29054325	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29054325C>A	uc003nlx.2	-	c.701G>T	c.(700-702)CGG>CTG	p.R234L		NM_001005226	NP_001005226			olfactory receptor, family 2, subfamily B,												0														0.626506	173.321982	174.4907	52	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29054325	29054325	11396	6	C	A	A	A	299	23	OR2B3	1	1
OR2J3	442186	broad.mit.edu	37	6	29080006	29080006	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29080006A>T	uc011dll.1	+	c.339A>T	c.(337-339)ACA>ACT	p.T113T		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.293718	498.523826	520.909983	173	416	KEEP	---	---	---	---	capture		Silent	SNP	29080006	29080006	11410	6	A	T	T	T	80	7	OR2J3	3	3
MAS1L	116511	broad.mit.edu	37	6	29454895	29454895	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29454895A>C	uc011dlq.1	-	c.785T>G	c.(784-786)GTC>GGC	p.V262G		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	262	Cytoplasmic (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(5)	5						NSCLC(153;755 1987 3859 11251 32945)								0.064516	-2.042705	10.16961	4	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29454895	29454895	9705	6	A	C	C	C	130	10	MAS1L	4	4
MAS1L	116511	broad.mit.edu	37	6	29455665	29455665	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29455665T>G	uc011dlq.1	-	c.15A>C	c.(13-15)AAA>AAC	p.K5N		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	5	Extracellular (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(5)	5						NSCLC(153;755 1987 3859 11251 32945)								0.452055	105.777651	105.921661	33	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29455665	29455665	9705	6	T	G	G	G	829	64	MAS1L	4	4
GABBR1	2550	broad.mit.edu	37	6	29599210	29599210	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29599210G>A	uc003nmt.3	-	c.252C>T	c.(250-252)AAC>AAT	p.N84N	GABBR1_uc003nmu.3_Silent_p.N84N|GABBR1_uc011dlr.1_De_novo_Start_OutOfFrame|GABBR1_uc011dls.1_Silent_p.N84N	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	84	Sushi 1.|Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)	6					Baclofen(DB00181)|Progabide(DB00837)									0.333333	55.953648	57.50369	21	42	KEEP	---	---	---	---	capture		Silent	SNP	29599210	29599210	6406	6	G	A	A	A	516	40	GABBR1	1	1
ZFP57	346171	broad.mit.edu	37	6	29643738	29643738	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29643738C>T	uc011dlw.1	-	c.222G>A	c.(220-222)TCG>TCA	p.S74S	ZFP57_uc003nnl.3_Silent_p.S54S	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	46	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)	3														0.330709	375.951708	385.612694	126	255	KEEP	---	---	---	---	capture		Silent	SNP	29643738	29643738	18239	6	C	T	T	T	288	23	ZFP57	1	1
TRIM10	10107	broad.mit.edu	37	6	30128459	30128459	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30128459G>T	uc003npo.3	-	c.177C>A	c.(175-177)CTC>CTA	p.L59L	TRIM10_uc003npn.2_Silent_p.L59L|TRIM15_uc010jrx.2_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	tripartite motif-containing 10 isoform 1	59	RING-type.					cytoplasm	zinc ion binding				0														0.289189	266.560825	281.313278	107	263	KEEP	---	---	---	---	capture		Silent	SNP	30128459	30128459	17030	6	G	T	T	T	418	33	TRIM10	2	2
ABCF1	23	broad.mit.edu	37	6	30553991	30553991	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30553991C>T	uc003nql.2	+	c.1794C>T	c.(1792-1794)GCC>GCT	p.A598A	ABCF1_uc003nqm.2_Silent_p.A560A|ABCF1_uc010jsb.2_Intron	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	598					inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2														0.29771	209.620055	219.166237	78	184	KEEP	---	---	---	---	capture		Silent	SNP	30553991	30553991	66	6	C	T	T	T	275	22	ABCF1	2	2
MDC1	9656	broad.mit.edu	37	6	30679651	30679651	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30679651C>G	uc003nrg.3	-	c.2068G>C	c.(2068-2070)GAT>CAT	p.D690H	MDC1_uc003nrf.3_Missense_Mutation_p.D344H|MDC1_uc011dmp.1_Missense_Mutation_p.D562H|MDC1_uc003nrh.1_3'UTR|MDC1_uc003nri.2_3'UTR	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	690				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4														0.076923	-8.856204	45.906797	23	276	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30679651	30679651	9792	6	C	G	G	G	273	21	MDC1	3	3
TCF19	6941	broad.mit.edu	37	6	31130328	31130328	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31130328C>G	uc003nss.2	+	c.872C>G	c.(871-873)CCC>CGC	p.P291R	TCF19_uc003nst.2_Missense_Mutation_p.P291R	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	291	Pro-rich.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.234375	31.406943	35.534181	15	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31130328	31130328	16215	6	C	G	G	G	286	22	TCF19	3	3
HLA-C	3107	broad.mit.edu	37	6	31238994	31238994	+	Missense_Mutation	SNP	C	A	A	rs41562518		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31238994C>A	uc003nsz.2	-	c.475G>T	c.(475-477)GCC>TCC	p.A159S	HLA-C_uc011dnj.1_Missense_Mutation_p.A131S|HLA-C_uc003nsx.2_Missense_Mutation_p.A38S|HLA-C_uc003nsy.2_Missense_Mutation_p.A159S|HLA-C_uc010jsl.2_Missense_Mutation_p.A159S|HLA-C_uc003nta.2_Missense_Mutation_p.A159S|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Missense_Mutation_p.A38S|HLA-B_uc003ntf.2_Missense_Mutation_p.A159S	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	159	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0														0.1	1.999271	8.374961	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31238994	31238994	7488	6	C	A	A	A	351	27	HLA-C	1	1
HLA-B	3106	broad.mit.edu	37	6	31324088	31324088	+	Missense_Mutation	SNP	C	A	A	rs1050370		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31324088C>A	uc003nth.2	-	c.475G>T	c.(475-477)GCC>TCC	p.A159S	HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.A38S|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_Non-coding_Transcript|HLA-B_uc010jso.2_Missense_Mutation_p.A131S	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	159	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0														0.126984	9.48307	18.022736	8	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31324088	31324088	7487	6	C	A	A	A	351	27	HLA-B	1	1
BAT1	7919	broad.mit.edu	37	6	31498927	31498927	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31498927A>G	uc003ntt.2	-	c.1025T>C	c.(1024-1026)GTG>GCG	p.V342A	BAT1_uc003ntq.2_Missense_Mutation_p.V75A|BAT1_uc003ntr.2_Missense_Mutation_p.V149A|BAT1_uc003nts.2_Missense_Mutation_p.V342A|BAT1_uc011dnn.1_Missense_Mutation_p.V264A|BAT1_uc003ntu.2_Missense_Mutation_p.V342A|BAT1_uc003ntv.2_Missense_Mutation_p.V342A	NM_004640	NP_004631	Q13838	DX39B_HUMAN	HLA-B associated transcript 1	342	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding				0														0.580838	287.376897	288.327904	97	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31498927	31498927	1339	6	A	G	G	G	78	6	BAT1	4	4
BAT1	7919	broad.mit.edu	37	6	31499075	31499075	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31499075C>A	uc003ntt.2	-	c.975G>T	c.(973-975)GAG>GAT	p.E325D	BAT1_uc003ntq.2_Missense_Mutation_p.E58D|BAT1_uc003ntr.2_Missense_Mutation_p.E132D|BAT1_uc003nts.2_Missense_Mutation_p.E325D|BAT1_uc011dnn.1_Missense_Mutation_p.E247D|BAT1_uc003ntu.2_Missense_Mutation_p.E325D|BAT1_uc003ntv.2_Missense_Mutation_p.E325D	NM_004640	NP_004631	Q13838	DX39B_HUMAN	HLA-B associated transcript 1	325	Helicase C-terminal.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding				0														0.307692	136.650237	142.214593	52	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31499075	31499075	1339	6	C	A	A	A	415	32	BAT1	2	2
BAT2	7916	broad.mit.edu	37	6	31600616	31600616	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31600616G>A	uc003nvb.3	+	c.4166G>A	c.(4165-4167)CGG>CAG	p.R1389Q	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R1389Q	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1389	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0														0.372263	310.710078	314.625076	102	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31600616	31600616	1340	6	G	A	A	A	507	39	BAT2	1	1
VARS	7407	broad.mit.edu	37	6	31759427	31759427	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31759427G>C	uc003nxe.2	-	c.1060C>G	c.(1060-1062)CAT>GAT	p.H354D	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	354	HIGH region.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			ovary(1)	1					L-Valine(DB00161)									0.340426	84.955096	87.078354	32	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31759427	31759427	17688	6	G	C	C	C	611	47	VARS	3	3
TNXB	7148	broad.mit.edu	37	6	32052312	32052312	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32052312A>T	uc003nzl.2	-	c.3323T>A	c.(3322-3324)GTG>GAG	p.V1108E		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1195	Fibronectin type-III 4.		V -> M (in EDS3).		actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.404762	100.345044	101.007275	34	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32052312	32052312	16887	6	A	T	T	T	78	6	TNXB	3	3
TNXB	7148	broad.mit.edu	37	6	32065179	32065179	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32065179G>T	uc003nzl.2	-	c.451C>A	c.(451-453)CTG>ATG	p.L151M		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	151					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0														0.284211	64.373117	68.357462	27	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32065179	32065179	16887	6	G	T	T	T	425	33	TNXB	2	2
FKBPL	63943	broad.mit.edu	37	6	32096983	32096983	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32096983A>C	uc003nzr.2	-	c.575T>G	c.(574-576)TTC>TGC	p.F192C	ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	WAF-1/CIP1 stabilizing protein 39	192					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0														0.356643	154.259616	156.858528	51	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32096983	32096983	6154	6	A	C	C	C	117	9	FKBPL	4	4
GRM4	2914	broad.mit.edu	37	6	34003480	34003480	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:34003480G>T	uc003oir.3	-	c.2407C>A	c.(2407-2409)CCC>ACC	p.P803T	GRM4_uc011dsn.1_Missense_Mutation_p.P756T|GRM4_uc010jvh.2_Missense_Mutation_p.P803T|GRM4_uc010jvi.2_Missense_Mutation_p.P495T|GRM4_uc003oio.2_Missense_Mutation_p.P495T|GRM4_uc003oip.2_Non-coding_Transcript|GRM4_uc011dsl.1_Missense_Mutation_p.P663T|GRM4_uc003oiq.2_Missense_Mutation_p.P670T|GRM4_uc011dsm.1_Missense_Mutation_p.P634T	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	803	Helical; Name=6; (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(1)	1					L-Glutamic Acid(DB00142)									0.25	46.858863	51.40679	20	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34003480	34003480	7078	6	G	T	T	T	559	43	GRM4	2	2
GRM4	2914	broad.mit.edu	37	6	34026759	34026759	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:34026759G>T	uc003oir.3	-	c.1019C>A	c.(1018-1020)TCC>TAC	p.S340Y	GRM4_uc011dsn.1_Missense_Mutation_p.S340Y|GRM4_uc010jvh.2_Missense_Mutation_p.S340Y|GRM4_uc010jvi.2_Missense_Mutation_p.S32Y|GRM4_uc003oio.2_Missense_Mutation_p.S32Y|GRM4_uc003oip.2_Non-coding_Transcript|GRM4_uc011dsl.1_Missense_Mutation_p.S200Y|GRM4_uc003oiq.2_Missense_Mutation_p.S207Y|GRM4_uc011dsm.1_Missense_Mutation_p.S171Y	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	340	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(1)	1					L-Glutamic Acid(DB00142)									0.62069	52.650412	53.019786	18	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34026759	34026759	7078	6	G	T	T	T	533	41	GRM4	2	2
GRM4	2914	broad.mit.edu	37	6	34100864	34100864	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:34100864C>A	uc003oir.3	-	c.410G>T	c.(409-411)GGC>GTC	p.G137V	GRM4_uc011dsn.1_Missense_Mutation_p.G137V|GRM4_uc010jvh.2_Missense_Mutation_p.G137V|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_Missense_Mutation_p.G56V	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	137	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(1)	1					L-Glutamic Acid(DB00142)									0.421053	23.796716	23.90007	8	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34100864	34100864	7078	6	C	A	A	A	338	26	GRM4	2	2
SCUBE3	222663	broad.mit.edu	37	6	35200627	35200627	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35200627A>G	uc003okf.1	+	c.470A>G	c.(469-471)GAA>GGA	p.E157G	SCUBE3_uc003okg.1_Intron|SCUBE3_uc003okh.1_Missense_Mutation_p.E28G	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	157	EGF-like 4.			Missing (in Ref. 6; AAH52263).	protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1														0.335378	506.354818	518.077597	164	325	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35200627	35200627	14429	6	A	G	G	G	117	9	SCUBE3	4	4
FANCE	2178	broad.mit.edu	37	6	35423757	35423757	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:35423757A>G	uc003oko.1	+	c.482A>G	c.(481-483)CAG>CGG	p.Q161R	FANCE_uc010jvw.1_Missense_Mutation_p.Q161R	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	161	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			ovary(1)	1										257				0.566667	52.776023	52.891813	17	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35423757	35423757	5902	6	A	G	G	G	91	7	FANCE	4	4
RNF8	9025	broad.mit.edu	37	6	37336267	37336267	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:37336267A>T	uc003onq.3	+	c.248A>T	c.(247-249)AAT>ATT	p.N83I	RNF8_uc003onr.3_Missense_Mutation_p.N83I|RNF8_uc011dtx.1_Missense_Mutation_p.N15I	NM_003958	NP_003949	O76064	RNF8_HUMAN	ring finger protein 8 isoform 1	83	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1														0.27907	161.009885	170.447095	60	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37336267	37336267	13979	6	A	T	T	T	52	4	RNF8	3	3
PRPF4B	8899	broad.mit.edu	37	6	4056595	4056595	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:4056595G>T	uc003mvv.2	+	c.2507G>T	c.(2506-2508)GGG>GTG	p.G836V	PRPF4B_uc003mvw.2_Non-coding_Transcript|C6orf146_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	serine/threonine-protein kinase PRP4K	836	Protein kinase.				nuclear mRNA splicing, via spliceosome|protein phosphorylation	catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(4)	4	Ovarian(93;0.0925)	all_hematologic(90;0.0895)								298				0.207921	47.415564	55.400059	21	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4056595	4056595	13016	6	G	T	T	T	559	43	PRPF4B	2	2
MDFI	4188	broad.mit.edu	37	6	41614042	41614042	+	Silent	SNP	G	A	A	rs1134905		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41614042G>A	uc003oqp.3	+	c.255G>A	c.(253-255)GTG>GTA	p.V85V	MDFI_uc003oqq.3_Silent_p.V85V|MDFI_uc010jxn.2_Silent_p.V85V	NM_005586	NP_005577	Q99750	MDFI_HUMAN	MyoD family inhibitor	85					activation of JUN kinase activity|cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus					0	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)											0.615385	102.809215	103.415424	32	20	KEEP	---	---	---	---	capture		Silent	SNP	41614042	41614042	9793	6	G	A	A	A	574	45	MDFI	2	2
PTCRA	171558	broad.mit.edu	37	6	42883813	42883813	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:42883813C>A	uc003osx.2	+	c.6C>A	c.(4-6)GCC>GCA	p.A2A	PTCRA_uc011duz.1_5'UTR|PTCRA_uc010jxx.1_Silent_p.A2A|PTCRA_uc010jxy.2_Silent_p.A2A|PTCRA_uc010jxz.2_Silent_p.A2A	NM_138296	NP_612153	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha precursor	2						integral to membrane	receptor activity			ovary(2)	2	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)											0.268293	24.382738	26.39105	11	30	KEEP	---	---	---	---	capture		Silent	SNP	42883813	42883813	13189	6	C	A	A	A	288	23	PTCRA	1	1
CUL9	23113	broad.mit.edu	37	6	43164002	43164002	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43164002G>T	uc003ouk.2	+	c.2584G>T	c.(2584-2586)GGG>TGG	p.G862W	CUL9_uc003oul.2_Missense_Mutation_p.G862W|CUL9_uc010jyk.2_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	862					regulation of mitotic metaphase/anaphase transition|ubiquitin-dependent protein catabolic process	anaphase-promoting complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|central_nervous_system(1)	6														0.320312	117.177772	120.824671	41	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43164002	43164002	4221	6	G	T	T	T	559	43	CUL9	2	2
TTBK1	84630	broad.mit.edu	37	6	43220497	43220497	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43220497G>T	uc003ouq.1	+	c.129G>T	c.(127-129)GGG>GGT	p.G43G		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	43	ATP (By similarity).|Protein kinase.				protein phosphorylation	cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)							85				0.666667	142.239264	144.03897	48	24	KEEP	---	---	---	---	capture		Silent	SNP	43220497	43220497	17230	6	G	T	T	T	548	43	TTBK1	2	2
TTBK1	84630	broad.mit.edu	37	6	43251477	43251477	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43251477G>T	uc003ouq.1	+	c.2999G>T	c.(2998-3000)GGG>GTG	p.G1000V		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1000					protein phosphorylation	cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)							85				0.282051	59.131456	62.451694	22	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43251477	43251477	17230	6	G	T	T	T	559	43	TTBK1	2	2
ZNF318	24149	broad.mit.edu	37	6	43308232	43308232	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:43308232C>A	uc003oux.2	-	c.3504G>T	c.(3502-3504)GTG>GTT	p.V1168V	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1168					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(2)|breast(2)|central_nervous_system(1)	5			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)											0.184211	15.200786	18.756924	7	31	KEEP	---	---	---	---	capture		Silent	SNP	43308232	43308232	18428	6	C	A	A	A	262	21	ZNF318	2	2
AARS2	57505	broad.mit.edu	37	6	44270607	44270607	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:44270607T>A	uc010jza.1	-	c.2296A>T	c.(2296-2298)ATC>TTC	p.I766F	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	766					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)									0.217391	10.763168	12.457197	5	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44270607	44270607	21	6	T	A	A	A	663	51	AARS2	3	3
MEP1A	4224	broad.mit.edu	37	6	46802995	46802995	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:46802995A>G	uc011dwh.1	+	c.1877A>G	c.(1876-1878)CAC>CGC	p.H626R	MEP1A_uc010jzh.1_Missense_Mutation_p.H598R|MEP1A_uc011dwg.1_Missense_Mutation_p.H320R|MEP1A_uc011dwi.1_Missense_Mutation_p.H498R	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	598	Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)											0.24	12.636549	14.180322	6	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46802995	46802995	9864	6	A	G	G	G	78	6	MEP1A	4	4
C6orf138	442213	broad.mit.edu	37	6	47846647	47846647	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47846647G>T	uc011dwm.1	-	c.1882C>A	c.(1882-1884)CCC>ACC	p.P628T	C6orf138_uc011dwn.1_Missense_Mutation_p.P392T	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	645						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.251724	173.251545	189.484849	73	217	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47846647	47846647	2435	6	G	T	T	T	559	43	C6orf138	2	2
C6orf138	442213	broad.mit.edu	37	6	47976478	47976478	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:47976478G>A	uc011dwm.1	-	c.748C>T	c.(748-750)CTG>TTG	p.L250L	C6orf138_uc011dwn.1_Silent_p.L14L|C6orf138_uc003ozf.2_Silent_p.L267L	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	267	Helical; (Potential).|SSD.					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.268293	88.421116	94.38252	33	90	KEEP	---	---	---	---	capture		Silent	SNP	47976478	47976478	2435	6	G	A	A	A	451	35	C6orf138	2	2
MUT	4594	broad.mit.edu	37	6	49403324	49403324	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49403324C>A	uc003ozg.3	-	c.1969G>T	c.(1969-1971)GTG>TTG	p.V657L		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	657	B12-binding.				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)									0.288462	41.01023	43.092651	15	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49403324	49403324	10385	6	C	A	A	A	260	20	MUT	2	2
CRISP1	167	broad.mit.edu	37	6	49803073	49803073	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:49803073G>C	uc003ozw.2	-	c.706C>G	c.(706-708)CTA>GTA	p.L236V	CRISP1_uc003ozx.2_3'UTR	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	236					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)													0.642308	513.063397	517.693765	167	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49803073	49803073	4018	6	G	C	C	C	451	35	CRISP1	3	3
TFAP2B	7021	broad.mit.edu	37	6	50810975	50810975	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50810975A>T	uc003pag.2	+	c.1253A>T	c.(1252-1254)CAG>CTG	p.Q418L		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	418				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	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)								0.223464	94.800896	107.393032	40	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50810975	50810975	16316	6	A	T	T	T	91	7	TFAP2B	3	3
MCM3	4172	broad.mit.edu	37	6	52138095	52138095	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:52138095C>G	uc003pan.1	-	c.1609G>C	c.(1609-1611)GAA>CAA	p.E537Q	MCM3_uc011dwu.1_Missense_Mutation_p.E491Q	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	537					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)													0.423358	191.728464	192.430491	58	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52138095	52138095	9776	6	C	G	G	G	390	30	MCM3	3	3
FAM83B	222584	broad.mit.edu	37	6	54804952	54804952	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54804952G>C	uc003pck.2	+	c.1183G>C	c.(1183-1185)GAA>CAA	p.E395Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	395										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)													0.236967	136.242163	149.583434	50	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54804952	54804952	5860	6	G	C	C	C	429	33	FAM83B	3	3
HCRTR2	3062	broad.mit.edu	37	6	55113465	55113465	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55113465C>T	uc003pcl.2	+	c.252C>T	c.(250-252)CAC>CAT	p.H84H	HCRTR2_uc010jzv.2_Non-coding_Transcript|HCRTR2_uc010jzw.1_Silent_p.H19H	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	84	Cytoplasmic (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)	2	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)											0.581994	557.880579	559.703388	181	130	KEEP	---	---	---	---	capture		Silent	SNP	55113465	55113465	7285	6	C	T	T	T	220	17	HCRTR2	2	2
GFRAL	389400	broad.mit.edu	37	6	55264237	55264237	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55264237T>C	uc003pcm.1	+	c.1119T>C	c.(1117-1119)CTT>CTC	p.L373L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like precursor	373	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)	2	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)											0.25	69.661414	75.10969	24	72	KEEP	---	---	---	---	capture		Silent	SNP	55264237	55264237	6619	6	T	C	C	C	782	61	GFRAL	4	4
BMP5	653	broad.mit.edu	37	6	55659147	55659147	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55659147C>A	uc003pcq.2	-	c.762G>T	c.(760-762)GTG>GTT	p.V254V	BMP5_uc011dxf.1_Silent_p.V254V	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	254					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)											0.351955	173.572458	177.032	63	116	KEEP	---	---	---	---	capture		Silent	SNP	55659147	55659147	1488	6	C	A	A	A	366	29	BMP5	2	2
BMP5	653	broad.mit.edu	37	6	55739649	55739649	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:55739649T>C	uc003pcq.2	-	c.15A>G	c.(13-15)GTA>GTG	p.V5V	BMP5_uc011dxf.1_Silent_p.V5V	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	5					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)											0.3	373.960044	388.248462	120	280	KEEP	---	---	---	---	capture		Silent	SNP	55739649	55739649	1488	6	T	C	C	C	626	49	BMP5	4	4
DST	667	broad.mit.edu	37	6	56335963	56335963	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56335963T>A	uc003pdf.2	-	c.15905A>T	c.(15904-15906)GAT>GTT	p.D5302V	DST_uc003pcz.3_Missense_Mutation_p.D5124V|DST_uc011dxj.1_Missense_Mutation_p.D5153V|DST_uc011dxk.1_Missense_Mutation_p.D5164V|DST_uc003pcy.3_Missense_Mutation_p.D4798V|DST_uc003pcx.3_5'Flank	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7210	1 (Potential).|EF-hand 1.				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				0.328571	64.902134	66.72553	23	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56335963	56335963	4967	6	T	A	A	A	650	50	DST	3	3
KHDRBS2	202559	broad.mit.edu	37	6	62390939	62390939	+	Missense_Mutation	SNP	A	G	G	rs111625311		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:62390939A>G	uc003peg.2	-	c.979T>C	c.(979-981)TCT>CCT	p.S327P		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(3)|liver(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(397;0.149)										0.294118	87.118393	90.982727	30	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62390939	62390939	8453	6	A	G	G	G	143	11	KHDRBS2	4	4
PHF3	23469	broad.mit.edu	37	6	64422495	64422495	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:64422495G>A	uc003pep.1	+	c.5011G>A	c.(5011-5013)GAT>AAT	p.D1671N	PHF3_uc003pen.2_Missense_Mutation_p.D1583N|PHF3_uc011dxs.1_Missense_Mutation_p.D940N	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	1671					multicellular organismal development	nucleus	zinc ion binding			ovary(2)|lung(1)|skin(1)	4	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GBM(135;136 1820 29512 34071 46235)				350				0.220472	68.827705	77.972564	28	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64422495	64422495	12259	6	G	A	A	A	429	33	PHF3	2	2
BAI3	577	broad.mit.edu	37	6	69349325	69349325	+	Splice_Site_SNP	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:69349325G>C	uc003pev.3	+	c.757_splice	c.e3+1	p.E253_splice	BAI3_uc010kak.2_Splice_Site_SNP_p.E253_splice	NM_001704	NP_001695			brain-specific angiogenesis inhibitor 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.563636	109.031135	109.225194	31	24	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	69349325	69349325	1321	6	G	C	C	C	572	44	BAI3	5	3
COL19A1	1310	broad.mit.edu	37	6	70745795	70745795	+	Splice_Site_SNP	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70745795G>A	uc003pfc.1	+	c.1135_splice	c.e14-1	p.G379_splice	COL19A1_uc010kam.1_Splice_Site_SNP_p.G275_splice	NM_001858	NP_001849			alpha 1 type XIX collagen precursor						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.352941	74.38669	75.680378	24	44	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	70745795	70745795	3814	6	G	A	A	A	455	35	COL19A1	5	2
COL19A1	1310	broad.mit.edu	37	6	70866215	70866215	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70866215T>A	uc003pfc.1	+	c.2192T>A	c.(2191-2193)ATA>AAA	p.I731K	COL19A1_uc010kam.1_Missense_Mutation_p.I627K	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	731	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.649007	319.76175	322.713766	98	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70866215	70866215	3814	6	T	A	A	A	637	49	COL19A1	3	3
COL19A1	1310	broad.mit.edu	37	6	70897851	70897851	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70897851G>T	uc003pfc.1	+	c.2929G>T	c.(2929-2931)GGG>TGG	p.G977W		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	977	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.675926	468.546232	474.520948	146	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70897851	70897851	3814	6	G	T	T	T	559	43	COL19A1	2	2
COL9A1	1297	broad.mit.edu	37	6	71004046	71004046	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:71004046A>T	uc003pfg.3	-	c.520T>A	c.(520-522)TCC>ACC	p.S174T		NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	174	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	extracellular matrix structural constituent conferring tensile strength|metal ion binding			ovary(4)	4														0.349282	195.193914	199.39101	73	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71004046	71004046	3845	6	A	T	T	T	143	11	COL9A1	3	3
OGFRL1	79627	broad.mit.edu	37	6	72011638	72011638	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:72011638C>A	uc003pfx.1	+	c.1242C>A	c.(1240-1242)CCC>CCA	p.P414P		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	414						membrane	receptor activity				0														0.272374	185.782071	197.758297	70	187	KEEP	---	---	---	---	capture		Silent	SNP	72011638	72011638	11249	6	C	A	A	A	262	21	OGFRL1	2	2
RREB1	6239	broad.mit.edu	37	6	7231129	7231129	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7231129G>T	uc003mxb.2	+	c.2797G>T	c.(2797-2799)GAG>TAG	p.E933*	RREB1_uc003mxc.2_Nonsense_Mutation_p.E933*|RREB1_uc010jnx.2_Nonsense_Mutation_p.E933*	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	933					multicellular organismal development|Ras protein signal transduction|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|transcription activator activity|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|breast(1)	9	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)												0.296296	59.060763	62.071859	24	57	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	7231129	7231129	14159	6	G	T	T	T	533	41	RREB1	5	2
RIMS1	22999	broad.mit.edu	37	6	72806711	72806711	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:72806711C>T	uc003pga.2	+	c.305C>T	c.(304-306)GCG>GTG	p.A102V		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	102	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)												0.615385	96.303552	96.909107	32	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72806711	72806711	13844	6	C	T	T	T	351	27	RIMS1	1	1
RIMS1	22999	broad.mit.edu	37	6	72806843	72806843	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:72806843G>A	uc003pga.2	+	c.437G>A	c.(436-438)CGC>CAC	p.R146H		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	146	RabBD.|FYVE-type.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)												0.066667	-5.745465	14.679631	7	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72806843	72806843	13844	6	G	A	A	A	494	38	RIMS1	1	1
KHDC1	80759	broad.mit.edu	37	6	73952133	73952133	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:73952133G>A	uc003pgo.2	-	c.327C>T	c.(325-327)ATC>ATT	p.I109I	KHDC1_uc011dyl.1_Non-coding_Transcript|KHDC1_uc003pgn.3_Silent_p.I36I	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	109	KH; atypical.					integral to membrane	RNA binding			skin(1)	1														0.358974	42.738829	43.421996	14	25	KEEP	---	---	---	---	capture		Silent	SNP	73952133	73952133	8450	6	G	A	A	A	421	33	KHDC1	2	2
DPPA5	340168	broad.mit.edu	37	6	74063590	74063590	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:74063590T>A	uc003pgs.1	-	c.278A>T	c.(277-279)CAG>CTG	p.Q93L		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	93					multicellular organismal development	cytoplasm	RNA binding				0														0.433962	69.714638	69.916235	23	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74063590	74063590	4921	6	T	A	A	A	715	55	DPPA5	3	3
COL12A1	1303	broad.mit.edu	37	6	75798880	75798880	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:75798880T>A	uc003phs.2	-	c.8952A>T	c.(8950-8952)GGA>GGT	p.G2984G	COL12A1_uc003pht.2_Silent_p.G1820G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2984	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.253012	44.6252	49.234425	21	62	KEEP	---	---	---	---	capture		Silent	SNP	75798880	75798880	3807	6	T	A	A	A	691	54	COL12A1	3	3
COL12A1	1303	broad.mit.edu	37	6	75898087	75898087	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:75898087C>T	uc003phs.2	-	c.988G>A	c.(988-990)GGA>AGA	p.G330R	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'UTR	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	330					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.605932	477.831093	480.182484	143	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75898087	75898087	3807	6	C	T	T	T	273	21	COL12A1	2	2
SNRNP48	154007	broad.mit.edu	37	6	7601747	7601747	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7601747A>T	uc003mxr.2	+	c.585A>T	c.(583-585)AAA>AAT	p.K195N	SNRNP48_uc003mxs.2_Non-coding_Transcript	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	U11/U12 snRNP 48K	195					mRNA processing|RNA splicing	cytoplasm|U12-type spliceosomal complex	metal ion binding				0														0.23741	74.297567	83.063054	33	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7601747	7601747	15357	6	A	T	T	T	11	1	SNRNP48	3	3
FILIP1	27145	broad.mit.edu	37	6	76124487	76124487	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76124487T>A	uc010kbe.2	-	c.211A>T	c.(211-213)AAA>TAA	p.K71*	FILIP1_uc003phy.1_Nonsense_Mutation_p.K68*|FILIP1_uc003pia.2_Nonsense_Mutation_p.K68*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	68											0														0.275	435.485666	464.696436	176	464	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	76124487	76124487	6132	6	T	A	A	A	832	64	FILIP1	5	3
MYO6	4646	broad.mit.edu	37	6	76624644	76624644	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76624644G>T	uc003pih.1	+	c.3773G>T	c.(3772-3774)GGC>GTC	p.G1258V	MYO6_uc003pii.1_Missense_Mutation_p.G1235V|MYO6_uc003pij.1_Missense_Mutation_p.G206V	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1267					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)										0.313433	53.734613	55.820374	21	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76624644	76624644	10476	6	G	T	T	T	546	42	MYO6	2	2
IMPG1	3617	broad.mit.edu	37	6	76660737	76660737	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76660737T>A	uc003pik.1	-	c.1366A>T	c.(1366-1368)ATC>TTC	p.I456F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	456					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)	2		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				Pancreas(37;839 1141 2599 26037)								0.304687	112.1967	116.541688	39	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76660737	76660737	8029	6	T	A	A	A	663	51	IMPG1	3	3
IMPG1	3617	broad.mit.edu	37	6	76713660	76713660	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:76713660A>T	uc003pik.1	-	c.1143T>A	c.(1141-1143)GCT>GCA	p.A381A		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	381					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)	2		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				Pancreas(37;839 1141 2599 26037)								0.275	56.613741	60.262793	22	58	KEEP	---	---	---	---	capture		Silent	SNP	76713660	76713660	8029	6	A	T	T	T	80	7	IMPG1	3	3
HTR1B	3351	broad.mit.edu	37	6	78172293	78172293	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:78172293G>T	uc003pil.1	-	c.828C>A	c.(826-828)GAC>GAA	p.D276E		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	276	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)									0.633028	232.938925	234.659997	69	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78172293	78172293	7737	6	G	T	T	T	516	40	HTR1B	1	1
ELOVL4	6785	broad.mit.edu	37	6	80626596	80626596	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:80626596T>C	uc003pja.3	-	c.674A>G	c.(673-675)CAA>CGA	p.Q225R	ELOVL4_uc011dyt.1_Non-coding_Transcript	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	elongation of very long chain fatty acids-like	225					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process|visual perception	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			ovary(1)	1		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)									0.35514	96.694728	98.683547	38	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80626596	80626596	5268	6	T	C	C	C	819	63	ELOVL4	4	4
TPBG	7162	broad.mit.edu	37	6	83075627	83075627	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:83075627G>T	uc003pjn.3	+	c.949G>T	c.(949-951)GGC>TGC	p.G317C	TPBG_uc010kbj.2_Missense_Mutation_p.G317C|TPBG_uc003pjo.2_Missense_Mutation_p.G317C	NM_006670	NP_006661	Q13641	TPBG_HUMAN	trophoblast glycoprotein precursor	317	Extracellular (Potential).|LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)	1		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)										0.663866	250.358812	253.197003	79	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83075627	83075627	16938	6	G	T	T	T	559	43	TPBG	2	2
SNX14	57231	broad.mit.edu	37	6	86223583	86223583	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:86223583C>A	uc003pkr.2	-	c.2588G>T	c.(2587-2589)CGC>CTC	p.R863L	SNX14_uc003pkp.2_Missense_Mutation_p.R726L|SNX14_uc003pkq.2_Missense_Mutation_p.R469L|SNX14_uc011dzg.1_Missense_Mutation_p.R811L|SNX14_uc003pks.2_Missense_Mutation_p.R810L|SNX14_uc003pkt.2_Missense_Mutation_p.R854L	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	863					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)										0.493671	127.619923	127.622691	39	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86223583	86223583	15385	6	C	A	A	A	351	27	SNX14	1	1
SNX14	57231	broad.mit.edu	37	6	86223586	86223586	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:86223586G>T	uc003pkr.2	-	c.2585C>A	c.(2584-2586)CCT>CAT	p.P862H	SNX14_uc003pkp.2_Missense_Mutation_p.P725H|SNX14_uc003pkq.2_Missense_Mutation_p.P468H|SNX14_uc011dzg.1_Missense_Mutation_p.P810H|SNX14_uc003pks.2_Missense_Mutation_p.P809H|SNX14_uc003pkt.2_Missense_Mutation_p.P853H	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	sorting nexin 14 isoform a	862					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity				0		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)										0.518987	130.775579	130.800207	41	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86223586	86223586	15385	6	G	T	T	T	455	35	SNX14	2	2
HTR1E	3354	broad.mit.edu	37	6	87725089	87725089	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:87725089G>T	uc003pli.2	+	c.37G>T	c.(37-39)GCT>TCT	p.A13S		NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	13	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)	2		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)									0.304167	191.387556	199.598941	73	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87725089	87725089	7739	6	G	T	T	T	546	42	HTR1E	2	2
C6orf162	57150	broad.mit.edu	37	6	88049910	88049910	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:88049910A>T	uc003plp.1	+	c.212A>T	c.(211-213)CAA>CTA	p.Q71L	C6orf164_uc003plr.2_Intron|C6orf162_uc003plq.1_Missense_Mutation_p.Q71L	NM_001042493	NP_001035958	Q96KF7	CF162_HUMAN	hypothetical protein LOC57150	71						integral to membrane					0		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)										0.375	141.556585	143.316307	48	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88049910	88049910	2444	6	A	T	T	T	65	5	C6orf162	3	3
C6orf165	154313	broad.mit.edu	37	6	88136356	88136356	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:88136356A>T	uc003plv.2	+	c.953A>T	c.(952-954)CAA>CTA	p.Q318L	C6orf165_uc003plw.2_Missense_Mutation_p.Q130L|C6orf165_uc010kbv.1_Non-coding_Transcript|C6orf165_uc003plu.1_Missense_Mutation_p.Q318L	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	318										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)										0.384615	59.28784	59.894734	20	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88136356	88136356	2446	6	A	T	T	T	65	5	C6orf165	3	3
SPACA1	81833	broad.mit.edu	37	6	88775996	88775997	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:88775996_88775997CC>AT	uc003pmn.2	+	c.828_829CC>AT	c.(826-831)GACCAA>GAATAA	p.276_277DQ>E*		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1 precursor	276_277	Cytoplasmic (Potential).					integral to membrane					0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)										0.221053	51.024582	57.828135	21	74	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	88775996	88775997	15473	6	CC	AT	AT	AT	233	18	SPACA1	5	2
CASP8AP2	9994	broad.mit.edu	37	6	90577112	90577112	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90577112C>T	uc003pnr.2	+	c.4103C>T	c.(4102-4104)TCT>TTT	p.S1368F	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.S1368F|CASP8AP2_uc011dzz.1_Missense_Mutation_p.S1368F	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1368					activation of caspase activity|cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		Colon(187;1656 2025 17045 31481 39901)								0.268293	30.409023	32.394534	11	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90577112	90577112	2797	6	C	T	T	T	416	32	CASP8AP2	2	2
BACH2	60468	broad.mit.edu	37	6	90661200	90661200	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90661200C>A	uc011eab.1	-	c.625G>T	c.(625-627)GAG>TAG	p.E209*	BACH2_uc003pnw.2_Nonsense_Mutation_p.E209*|BACH2_uc010kch.2_Nonsense_Mutation_p.E209*	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	209					regulation of transcription, DNA-dependent	nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|lung(1)|pancreas(1)	5		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)										0.355263	152.220238	155.019518	54	98	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	90661200	90661200	1305	6	C	A	A	A	403	31	BACH2	5	1
EPHA7	2045	broad.mit.edu	37	6	94120810	94120810	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:94120810G>T	uc003poe.2	-	c.241C>A	c.(241-243)CAA>AAA	p.Q81K	EPHA7_uc003pof.2_Missense_Mutation_p.Q81K|EPHA7_uc011eac.1_Missense_Mutation_p.Q81K|EPHA7_uc003pog.3_Missense_Mutation_p.Q81K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	81	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				0.279503	117.995457	125.042996	45	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94120810	94120810	5365	6	G	T	T	T	611	47	EPHA7	2	2
MANEA	79694	broad.mit.edu	37	6	96034506	96034506	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:96034506G>T	uc003poo.1	+	c.191G>T	c.(190-192)AGT>ATT	p.S64I	MANEA_uc003pon.2_Missense_Mutation_p.S64I	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	64	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)										0.576577	205.703585	206.26942	64	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96034506	96034506	9604	6	G	T	T	T	468	36	MANEA	2	2
FUT9	10690	broad.mit.edu	37	6	96651472	96651472	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:96651472C>A	uc003pop.3	+	c.441C>A	c.(439-441)GGC>GGA	p.G147G		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	147	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			ovary(1)	1		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		Melanoma(98;1369 1476 6592 22940 26587)								0.327103	94.590629	97.426405	35	72	KEEP	---	---	---	---	capture		Silent	SNP	96651472	96651472	6362	6	C	A	A	A	314	25	FUT9	2	2
FBXO24	26261	broad.mit.edu	37	7	100187837	100187837	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100187837T>C	uc011kjz.1	+	c.293T>C	c.(292-294)GTT>GCT	p.V98A	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.V60A|FBXO24_uc003uvm.1_Missense_Mutation_p.V60A|FBXO24_uc003uvn.1_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.V48A	NM_012172	NP_036304	O75426	FBX24_HUMAN	F-box only protein 24 isoform 3	60	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			ovary(3)|skin(1)	4	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)													0.273885	118.081241	125.377154	43	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100187837	100187837	5972	7	T	C	C	C	780	60	FBXO24	4	4
EPO	2056	broad.mit.edu	37	7	100319630	100319630	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100319630C>A	uc003uwi.2	+	c.205C>A	c.(205-207)CCA>ACA	p.P69T	EPO_uc011kkc.1_Missense_Mutation_p.P69T	NM_000799	NP_000790	P01588	EPO_HUMAN	erythropoietin precursor	69					blood circulation|erythrocyte maturation|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of gene-specific transcription|positive regulation of Ras protein signal transduction|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|hormone activity			central_nervous_system(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)					64				0.494845	146.019491	146.021274	48	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100319630	100319630	5381	7	C	A	A	A	286	22	EPO	2	2
ZAN	7455	broad.mit.edu	37	7	100389700	100389700	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100389700A>G	uc003uwj.2	+	c.7642A>G	c.(7642-7644)AGG>GGG	p.R2548G	ZAN_uc003uwk.2_Missense_Mutation_p.R2548G|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript|ZAN_uc011kke.1_Silent_p.V540V	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2548	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)											0.181818	14.43257	17.568819	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100389700	100389700	18096	7	A	G	G	G	192	15	ZAN	4	4
ZAN	7455	broad.mit.edu	37	7	100391854	100391854	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100391854G>C	uc003uwj.2	+	c.8099G>C	c.(8098-8100)GGG>GCG	p.G2700A	ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_Non-coding_Transcript|ZAN_uc010lhh.2_Non-coding_Transcript|ZAN_uc010lhi.2_Non-coding_Transcript|ZAN_uc011kke.1_Missense_Mutation_p.G648A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	2700	VWFC 5.|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)											0.138462	23.082998	39.508797	18	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100391854	100391854	18096	7	G	C	C	C	559	43	ZAN	3	3
SRRT	51593	broad.mit.edu	37	7	100484696	100484696	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100484696G>C	uc003uwy.2	+	c.1850G>C	c.(1849-1851)CGC>CCC	p.R617P	SRRT_uc010lhl.1_Missense_Mutation_p.R616P|SRRT_uc003uxa.2_Missense_Mutation_p.R616P|SRRT_uc003uwz.2_Missense_Mutation_p.R617P	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	617					cell proliferation|primary microRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2														0.32345	360.216615	370.463595	120	251	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100484696	100484696	15687	7	G	C	C	C	494	38	SRRT	3	3
MUC17	140453	broad.mit.edu	37	7	100678788	100678788	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100678788A>G	uc003uxp.1	+	c.4091A>G	c.(4090-4092)AAC>AGC	p.N1364S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1364	Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.168254	110.600176	143.424054	53	262	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100678788	100678788	10368	7	A	G	G	G	26	2	MUC17	4	4
MUC17	140453	broad.mit.edu	37	7	100680177	100680177	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100680177C>A	uc003uxp.1	+	c.5480C>A	c.(5479-5481)ACC>AAC	p.T1827N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1827	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|28.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.435644	259.512948	260.209678	88	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100680177	100680177	10368	7	C	A	A	A	234	18	MUC17	2	2
MUC17	140453	broad.mit.edu	37	7	100684661	100684661	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100684661C>T	uc003uxp.1	+	c.9964C>T	c.(9964-9966)CCT>TCT	p.P3322S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	3322	Extracellular (Potential).|54.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.56	397.971952	398.680234	126	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100684661	100684661	10368	7	C	T	T	T	390	30	MUC17	2	2
RELN	5649	broad.mit.edu	37	7	103141204	103141204	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103141204G>T	uc003vca.2	-	c.8655C>A	c.(8653-8655)ACC>ACA	p.T2885T	RELN_uc010liz.2_Silent_p.T2885T	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2885					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)								0.228571	110.511768	124.691885	48	162	KEEP	---	---	---	---	capture		Silent	SNP	103141204	103141204	13689	7	G	T	T	T	548	43	RELN	2	2
RELN	5649	broad.mit.edu	37	7	103234239	103234239	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103234239T>A	uc003vca.2	-	c.3802A>T	c.(3802-3804)ACC>TCC	p.T1268S	RELN_uc010liz.2_Missense_Mutation_p.T1268S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1268					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)								0.102941	6.952661	28.341471	14	122	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103234239	103234239	13689	7	T	A	A	A	780	60	RELN	3	3
RELN	5649	broad.mit.edu	37	7	103338364	103338364	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103338364A>G	uc003vca.2	-	c.1079T>C	c.(1078-1080)TTA>TCA	p.L360S	RELN_uc010liz.2_Missense_Mutation_p.L360S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	360					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)								0.251515	236.031652	254.498065	83	247	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103338364	103338364	13689	7	A	G	G	G	169	13	RELN	4	4
PUS7	54517	broad.mit.edu	37	7	105099703	105099703	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:105099703T>G	uc010lji.2	-	c.1779A>C	c.(1777-1779)GAA>GAC	p.E593D	PUS7_uc003vcx.2_Missense_Mutation_p.E587D|PUS7_uc003vcy.2_Missense_Mutation_p.E587D|PUS7_uc003vcz.1_Missense_Mutation_p.E587D	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog	587					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1						Colon(138;2387 3051 17860)								0.21875	36.915548	41.579661	14	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105099703	105099703	13291	7	T	G	G	G	725	56	PUS7	4	4
PIK3CG	5294	broad.mit.edu	37	7	106509636	106509636	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:106509636C>A	uc003vdv.3	+	c.1630C>A	c.(1630-1632)CGA>AGA	p.R544R	PIK3CG_uc003vdu.2_Silent_p.R544R|PIK3CG_uc003vdw.2_Silent_p.R544R	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	544					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									p.R544*(SEM-Tumor)	292				0.234783	66.509631	73.879987	27	88	KEEP	---	---	---	---	capture		Silent	SNP	106509636	106509636	12340	7	C	A	A	A	399	31	PIK3CG	1	1
SLC26A4	5172	broad.mit.edu	37	7	107315473	107315473	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107315473C>A	uc003vep.2	+	c.684C>A	c.(682-684)GCC>GCA	p.A228A		NM_000441	NP_000432	O43511	S26A4_HUMAN	pendrin	228	Helical; (Potential).				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			ovary(3)|central_nervous_system(2)	5														0.221212	164.079517	187.711949	73	257	KEEP	---	---	---	---	capture		Silent	SNP	107315473	107315473	15016	7	C	A	A	A	301	24	SLC26A4	2	2
SLC26A3	1811	broad.mit.edu	37	7	107415236	107415236	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107415236G>C	uc003ver.2	-	c.1759C>G	c.(1759-1761)CTA>GTA	p.L587V	SLC26A3_uc003ves.2_Missense_Mutation_p.L552V	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	587	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)	3														0.23301	127.701274	141.139372	48	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107415236	107415236	15015	7	G	C	C	C	438	34	SLC26A3	3	3
C7orf66	154907	broad.mit.edu	37	7	108524515	108524516	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:108524515_108524516CC>AA	uc003vfo.2	-	c.74_75GG>TT	c.(73-75)TGG>TTT	p.W25F		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	hypothetical protein LOC154907	25	Helical; (Potential).					integral to membrane				ovary(2)	2														0.25	154.152093	168.228191	62	186	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	108524515	108524516	2519	7	CC	AA	AA	AA	390	30	C7orf66	2	2
LRRN3	54674	broad.mit.edu	37	7	110763476	110763476	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:110763476C>A	uc003vft.3	+	c.648C>A	c.(646-648)AGC>AGA	p.S216R	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.S216R|LRRN3_uc003vfs.3_Missense_Mutation_p.S216R	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	216	Extracellular (Potential).|LRR 7.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)										0.219355	77.999056	89.222527	34	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110763476	110763476	9412	7	C	A	A	A	337	26	LRRN3	2	2
GPR85	54329	broad.mit.edu	37	7	112724050	112724050	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:112724050A>G	uc010ljv.2	-	c.727T>C	c.(727-729)TGG>CGG	p.W243R	GPR85_uc003vgp.1_Missense_Mutation_p.W243R|GPR85_uc003vgq.2_Missense_Mutation_p.W243R|GPR85_uc010ljw.1_Missense_Mutation_p.W243R	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	243	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2														0.336842	83.267447	85.50599	32	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112724050	112724050	6990	7	A	G	G	G	65	5	GPR85	4	4
PPP1R3A	5506	broad.mit.edu	37	7	113518804	113518804	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:113518804A>T	uc010ljy.1	-	c.2343T>A	c.(2341-2343)GAT>GAA	p.D781E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	781					glycogen metabolic process	integral to membrane				ovary(9)|pancreas(7)|skin(2)|breast(2)|lung(1)	21										235				0.373377	362.174346	366.500811	115	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113518804	113518804	12806	7	A	T	T	T	102	8	PPP1R3A	3	3
FOXP2	93986	broad.mit.edu	37	7	114268649	114268649	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:114268649C>A	uc003vgz.2	+	c.388C>A	c.(388-390)CAG>AAG	p.Q130K	FOXP2_uc003vgu.2_Non-coding_Transcript|FOXP2_uc003vha.2_Missense_Mutation_p.Q13K|FOXP2_uc003vhb.2_Missense_Mutation_p.Q105K|FOXP2_uc011kmu.1_Missense_Mutation_p.Q105K|FOXP2_uc011kmv.1_Missense_Mutation_p.Q105K|FOXP2_uc010ljz.1_Missense_Mutation_p.Q13K|FOXP2_uc003vgt.1_Non-coding_Transcript|FOXP2_uc003vgv.1_Missense_Mutation_p.Q105K|FOXP2_uc003vgw.2_Missense_Mutation_p.Q130K|FOXP2_uc003vgx.2_Missense_Mutation_p.Q105K|FOXP2_uc003vhd.2_Missense_Mutation_p.Q105K|FOXP2_uc003vhc.2_Missense_Mutation_p.Q130K	NM_148898	NP_683696	O15409	FOXP2_HUMAN	forkhead box P2 isoform II	105	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|lung(1)|breast(1)|pancreas(1)	7														0.219608	130.81941	149.245737	56	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114268649	114268649	6273	7	C	A	A	A	325	25	FOXP2	2	2
FOXP2	93986	broad.mit.edu	37	7	114298122	114298122	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:114298122T>G	uc003vgz.2	+	c.1343T>G	c.(1342-1344)CTA>CGA	p.L448R	FOXP2_uc003vgu.2_Intron|FOXP2_uc003vha.2_Missense_Mutation_p.L331R|FOXP2_uc003vhb.2_Missense_Mutation_p.L423R|FOXP2_uc011kmu.1_Missense_Mutation_p.L440R|FOXP2_uc011kmv.1_Missense_Mutation_p.L422R|FOXP2_uc010ljz.1_Intron|FOXP2_uc003vhe.1_5'UTR	NM_148898	NP_683696	O15409	FOXP2_HUMAN	forkhead box P2 isoform II	423	CTBP1-binding (By similarity).				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|lung(1)|breast(1)|pancreas(1)	7														0.034783	-41.508114	12.672078	8	222	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114298122	114298122	6273	7	T	G	G	G	689	53	FOXP2	4	4
THSD7A	221981	broad.mit.edu	37	7	11485945	11485945	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11485945C>A	uc003ssf.3	-	c.2807G>T	c.(2806-2808)AGT>ATT	p.S936I		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	936	TSP type-1 9.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.502119	746.362851	746.364662	237	235	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11485945	11485945	16407	7	C	A	A	A	260	20	THSD7A	2	2
TFEC	22797	broad.mit.edu	37	7	115580862	115580863	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:115580862_115580863GG>TT	uc003vhj.1	-	c.786_787CC>AA	c.(784-789)TGCCAA>TGAAAA	p.262_263CQ>*K	TFEC_uc003vhk.1_Nonsense_Mutation_p.233_234CQ>*K|TFEC_uc003vhl.3_3'UTR|TFEC_uc011kmw.1_3'UTR	NM_012252	NP_036384	O14948	TFEC_HUMAN	transcription factor EC isoform a	262_263					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)											0.313589	255.972458	264.834639	90	197	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	115580862	115580863	16330	7	GG	TT	TT	TT	611	47	TFEC	5	2
THSD7A	221981	broad.mit.edu	37	7	11676453	11676453	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:11676453T>G	uc003ssf.3	-	c.326A>C	c.(325-327)CAG>CCG	p.Q109P		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	109	TSP type-1 1.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)										0.09292	2.674882	40.494286	21	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11676453	11676453	16407	7	T	G	G	G	715	55	THSD7A	4	4
WNT2	7472	broad.mit.edu	37	7	116955360	116955360	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:116955360C>A	uc003viz.2	-	c.353G>T	c.(352-354)GGA>GTA	p.G118V	WNT2_uc003vja.2_Intron	NM_003391	NP_003382	P09544	WNT2_HUMAN	wingless-type MMTV integration site family	118					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|negative regulation of gene-specific transcription from RNA polymerase II promoter|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			central_nervous_system(2)|ovary(1)|breast(1)	4	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)										0.342466	64.34331	65.948338	25	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116955360	116955360	17960	7	C	A	A	A	390	30	WNT2	2	2
ANKRD7	56311	broad.mit.edu	37	7	117874591	117874591	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:117874591T>A	uc003vji.2	+	c.286T>A	c.(286-288)TTG>ATG	p.L96M		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	96	ANK 2.				male gonad development						0														0.338983	112.765035	115.469345	40	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117874591	117874591	694	7	T	A	A	A	673	52	ANKRD7	3	3
C7orf58	79974	broad.mit.edu	37	7	120906837	120906837	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:120906837C>A	uc003vjq.3	+	c.2608C>A	c.(2608-2610)CAA>AAA	p.Q870K		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	870						endoplasmic reticulum				ovary(4)|large_intestine(2)|pancreas(1)	7	all_neural(327;0.117)													0.457143	392.365215	392.813516	128	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120906837	120906837	2512	7	C	A	A	A	325	25	C7orf58	2	2
TAS2R16	50833	broad.mit.edu	37	7	122635622	122635622	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:122635622C>A	uc003vkl.1	-	c.67G>T	c.(67-69)GTG>TTG	p.V23L		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	23	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|integral to membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)	1														0.114428	27.003796	56.441495	23	178	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122635622	122635622	16091	7	C	A	A	A	221	17	TAS2R16	2	2
LMOD2	442721	broad.mit.edu	37	7	123303145	123303145	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:123303145C>G	uc003vky.2	+	c.1505C>G	c.(1504-1506)TCA>TGA	p.S502*		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	502						cytoskeleton	actin binding|tropomyosin binding				0														0.258621	87.393784	93.518289	30	86	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	123303145	123303145	9186	7	C	G	G	G	377	29	LMOD2	5	3
GPR37	2861	broad.mit.edu	37	7	124386859	124386859	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:124386859C>A	uc003vli.2	-	c.1562G>T	c.(1561-1563)GGG>GTG	p.G521V		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	521	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2														0.487179	224.176352	224.199151	76	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124386859	124386859	6966	7	C	A	A	A	286	22	GPR37	2	2
LRRC4	64101	broad.mit.edu	37	7	127669175	127669175	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127669175G>C	uc003vmk.2	-	c.1519C>G	c.(1519-1521)CCC>GCC	p.P507A	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	507	Thr-rich.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)										0.176471	13.529332	16.882803	6	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127669175	127669175	9372	7	G	C	C	C	572	44	LRRC4	3	3
LEP	3952	broad.mit.edu	37	7	127894641	127894641	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127894641T>G	uc003vml.2	+	c.329T>G	c.(328-330)GTG>GGG	p.V110G	LEP_uc003vmm.2_Missense_Mutation_p.V109G	NM_000230	NP_000221	P41159	LEP_HUMAN	leptin precursor	110					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space					0														0.208054	74.46704	86.215755	31	118	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127894641	127894641	9051	7	T	G	G	G	767	59	LEP	4	4
FLNC	2318	broad.mit.edu	37	7	128481269	128481269	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128481269A>G	uc003vnz.3	+	c.1859A>G	c.(1858-1860)GAC>GGC	p.D620G	FLNC_uc003voa.3_Missense_Mutation_p.D620G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	620	Filamin 4.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.176471	42.140753	53.989391	21	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128481269	128481269	6177	7	A	G	G	G	130	10	FLNC	4	4
KLHDC10	23008	broad.mit.edu	37	7	129770407	129770407	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:129770407G>T	uc003vpj.1	+	c.1150G>T	c.(1150-1152)GTG>TTG	p.V384L	KLHDC10_uc003vpk.1_Missense_Mutation_p.V355L|KLHDC10_uc010lmb.1_Missense_Mutation_p.V281L	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	kelch domain containing 10	384	Kelch 6.										0														0.233333	113.594325	127.248332	49	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129770407	129770407	8667	7	G	T	T	T	572	44	KLHDC10	2	2
CPA5	93979	broad.mit.edu	37	7	130007797	130007797	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130007797C>A	uc010lmd.1	+	c.1089C>A	c.(1087-1089)ATC>ATA	p.I363I	CPA5_uc003vps.2_Silent_p.I363I|CPA5_uc003vpt.2_Intron|CPA5_uc010lme.1_Silent_p.I363I|CPA5_uc003vpu.1_Silent_p.I363I	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	363					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)													0.20202	45.56696	53.71711	20	79	KEEP	---	---	---	---	capture		Silent	SNP	130007797	130007797	3931	7	C	A	A	A	395	31	CPA5	1	1
COPG2	26958	broad.mit.edu	37	7	130295855	130295855	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:130295855C>G	uc003vqh.1	-	c.706G>C	c.(706-708)GCC>CCC	p.A236P		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	236					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity				0	Melanoma(18;0.0435)													0.365145	281.632532	285.488509	88	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130295855	130295855	3870	7	C	G	G	G	325	25	COPG2	3	3
PLXNA4	91584	broad.mit.edu	37	7	131887591	131887591	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:131887591G>T	uc003vra.3	-	c.2400C>A	c.(2398-2400)CAC>CAA	p.H800Q		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	800	Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.294118	39.705308	41.639986	15	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131887591	131887591	12548	7	G	T	T	T	568	44	PLXNA4	2	2
PLXNA4	91584	broad.mit.edu	37	7	132193253	132193253	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:132193253G>T	uc003vra.3	-	c.200C>A	c.(199-201)GCC>GAC	p.A67D	PLXNA4_uc003vrc.2_Missense_Mutation_p.A67D|PLXNA4_uc003vrb.2_Missense_Mutation_p.A67D	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	67	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1														0.423077	153.581937	154.25466	55	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132193253	132193253	12548	7	G	T	T	T	546	42	PLXNA4	2	2
CNOT4	4850	broad.mit.edu	37	7	135047791	135047791	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:135047791T>C	uc011kpy.1	-	c.1988A>G	c.(1987-1989)CAG>CGG	p.Q663R	CNOT4_uc003vss.2_Missense_Mutation_p.Q589R|CNOT4_uc011kpz.1_Missense_Mutation_p.Q660R|CNOT4_uc003vst.2_Missense_Mutation_p.Q592R	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	329					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding				0						Ovarian(51;766 1130 5502 35047 50875)								0.387622	326.341547	329.802917	119	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135047791	135047791	3759	7	T	C	C	C	715	55	CNOT4	4	4
NUP205	23165	broad.mit.edu	37	7	135307617	135307617	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:135307617G>T	uc003vsw.2	+	c.4423G>T	c.(4423-4425)GCC>TCC	p.A1475S	NUP205_uc003vsx.2_Non-coding_Transcript	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1475					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														0.455696	106.001813	106.134779	36	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135307617	135307617	11164	7	G	T	T	T	494	38	NUP205	1	1
CHRM2	1129	broad.mit.edu	37	7	136700640	136700640	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:136700640C>A	uc003vtf.1	+	c.1028C>A	c.(1027-1029)ACC>AAC	p.T343N	CHRM2_uc003vtg.1_Missense_Mutation_p.T343N|CHRM2_uc003vtj.1_Missense_Mutation_p.T343N|CHRM2_uc003vtk.1_Missense_Mutation_p.T343N|CHRM2_uc003vtl.1_Missense_Mutation_p.T343N|CHRM2_uc003vtm.1_Missense_Mutation_p.T343N|CHRM2_uc003vti.1_Missense_Mutation_p.T343N|CHRM2_uc003vto.1_Missense_Mutation_p.T343N|CHRM2_uc003vtn.1_Missense_Mutation_p.T343N	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	343	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)									0.210811	174.563236	203.178769	78	292	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136700640	136700640	3511	7	C	A	A	A	234	18	CHRM2	2	2
ATP6V0A4	50617	broad.mit.edu	37	7	138453945	138453945	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138453945T>A	uc003vuf.2	-	c.169A>T	c.(169-171)AGG>TGG	p.R57W	ATP6V0A4_uc003vug.2_Missense_Mutation_p.R57W|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.R57W	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	57	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1														0.293706	108.524325	113.956427	42	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138453945	138453945	1189	7	T	A	A	A	726	56	ATP6V0A4	3	3
KIAA1549	57670	broad.mit.edu	37	7	138603939	138603939	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138603939C>G	uc011kql.1	-	c.433G>C	c.(433-435)GTG>CTG	p.V145L	KIAA1549_uc003vuk.3_Missense_Mutation_p.V95L|KIAA1549_uc011kqj.1_Missense_Mutation_p.V145L	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	145						integral to membrane			KIAA1549/BRAF(211)	central_nervous_system(211)|pancreas(1)	212						NSCLC(119;1534 1718 44213 46230 50068)				967				0.273427	588.569131	624.583891	213	566	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138603939	138603939	8553	7	C	G	G	G	260	20	KIAA1549	3	3
TTC26	79989	broad.mit.edu	37	7	138849886	138849886	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:138849886C>T	uc003vus.2	+	c.801C>T	c.(799-801)TTC>TTT	p.F267F	TTC26_uc011kqm.1_Silent_p.F161F|TTC26_uc003vur.3_Silent_p.F267F|TTC26_uc011kqn.1_Silent_p.F267F|TTC26_uc011kqo.1_Silent_p.F236F|TTC26_uc011kqp.1_Silent_p.F162F|TTC26_uc003vut.2_Silent_p.F127F|TTC26_uc011kqq.1_Silent_p.F136F	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26 isoform 1	267							binding			ovary(1)	1														0.428571	80.817451	81.096964	27	36	KEEP	---	---	---	---	capture		Silent	SNP	138849886	138849886	17248	7	C	T	T	T	389	30	TTC26	2	2
KIAA1147	57189	broad.mit.edu	37	7	141366214	141366214	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141366214T>A	uc003vwk.2	-	c.693A>T	c.(691-693)CCA>CCT	p.P231P		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	hypothetical protein LOC57189	231										ovary(1)	1	Melanoma(164;0.0171)													0.3125	74.447627	76.950333	25	55	KEEP	---	---	---	---	capture		Silent	SNP	141366214	141366214	8518	7	T	A	A	A	704	55	KIAA1147	3	3
MGAM	8972	broad.mit.edu	37	7	141719105	141719105	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141719105T>G	uc003vwy.2	+	c.434T>G	c.(433-435)GTC>GGC	p.V145G		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	145	Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)									0.217647	96.282081	108.779947	37	133	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141719105	141719105	9931	7	T	G	G	G	754	58	MGAM	4	4
MGAM	8972	broad.mit.edu	37	7	141730529	141730529	+	Nonsense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141730529C>G	uc003vwy.2	+	c.1442C>G	c.(1441-1443)TCA>TGA	p.S481*		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	481	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)									0.243316	239.989218	262.505481	91	283	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	141730529	141730529	9931	7	C	G	G	G	377	29	MGAM	5	3
TRYX3	136541	broad.mit.edu	37	7	141952058	141952058	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141952058C>A	uc003vxb.2	-	c.709G>T	c.(709-711)GTA>TTA	p.V237L	TRYX3_uc003vxc.3_Missense_Mutation_p.V237L	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	trypsin X3 precursor	237	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0	Melanoma(164;0.0272)													0.554217	151.820101	152.046324	46	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141952058	141952058	17155	7	C	A	A	A	221	17	TRYX3	2	2
PRSS1	5644	broad.mit.edu	37	7	142460763	142460763	+	Silent	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142460763A>C	uc003wak.2	+	c.636A>C	c.(634-636)GGA>GGC	p.G212G	TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Silent_p.G152G	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	212	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)											0.1875	67.844842	85.474056	36	156	KEEP	---	---	---	---	capture		Silent	SNP	142460763	142460763	13064	7	A	C	C	C	132	11	PRSS1	4	4
TRPV5	56302	broad.mit.edu	37	7	142627252	142627252	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142627252G>C	uc003wby.1	-	c.250C>G	c.(250-252)CAC>GAC	p.H84D	TRPV5_uc003wbz.2_Missense_Mutation_p.H84D	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	84	Cytoplasmic (Potential).|ANK 2.				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)	5	Melanoma(164;0.059)													0.189189	67.512082	80.886569	28	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142627252	142627252	17150	7	G	C	C	C	598	46	TRPV5	3	3
C7orf34	135927	broad.mit.edu	37	7	142637627	142637627	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142637627A>T	uc003wca.2	+	c.397A>T	c.(397-399)AGG>TGG	p.R133W		NM_178829	NP_849151	Q96L11	CG034_HUMAN	hypothetical protein LOC135927	108						extracellular region					0	Melanoma(164;0.059)													0.291829	403.274658	423.210778	150	364	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142637627	142637627	2496	7	A	T	T	T	140	11	C7orf34	3	3
TAS2R60	338398	broad.mit.edu	37	7	143141421	143141421	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143141421C>A	uc011ktg.1	+	c.876C>A	c.(874-876)CAC>CAA	p.H292Q		NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	292	Cytoplasmic (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity				0	Melanoma(164;0.172)													0.426871	723.528661	726.288427	251	337	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	143141421	143141421	16107	7	C	A	A	A	233	18	TAS2R60	2	2
OR2F2	135948	broad.mit.edu	37	7	143633045	143633045	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143633045G>T	uc011ktv.1	+	c.720G>T	c.(718-720)ACG>ACT	p.T240T		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0903)													0.546875	463.336243	463.829583	140	116	KEEP	---	---	---	---	capture		Silent	SNP	143633045	143633045	11403	7	G	T	T	T	509	40	OR2F2	1	1
OR2F1	26211	broad.mit.edu	37	7	143657384	143657385	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:143657384_143657385GG>TT	uc003wds.1	+	c.321_322GG>TT	c.(319-324)TTGGGT>TTTTGT	p.107_108LG>FC		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	107_108	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0903)													0.248292	288.452454	313.763433	109	330	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	143657384	143657385	11402	7	GG	TT	TT	TT	607	47	OR2F1	2	2
DGKB	1607	broad.mit.edu	37	7	14378218	14378218	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:14378218G>T	uc003ssz.2	-	c.2047C>A	c.(2047-2049)CAT>AAT	p.H683N	DGKB_uc011jxt.1_Missense_Mutation_p.H664N|DGKB_uc003sta.2_Missense_Mutation_p.H683N|DGKB_uc011jxu.1_Missense_Mutation_p.H682N	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	683					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				0.338462	191.497315	195.993306	66	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14378218	14378218	4645	7	G	T	T	T	611	47	DGKB	2	2
DGKB	1607	broad.mit.edu	37	7	14722442	14722442	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:14722442C>A	uc003ssz.2	-	c.854G>T	c.(853-855)CGC>CTC	p.R285L	DGKB_uc011jxt.1_Missense_Mutation_p.R278L|DGKB_uc003sta.2_Missense_Mutation_p.R285L|DGKB_uc011jxu.1_Missense_Mutation_p.R285L	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	285	Phorbol-ester/DAG-type 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)					800				0.44186	60.122394	60.24834	19	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14722442	14722442	4645	7	C	A	A	A	351	27	DGKB	1	1
CNTNAP2	26047	broad.mit.edu	37	7	147336298	147336298	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147336298C>A	uc003weu.1	+	c.1998C>A	c.(1996-1998)AGC>AGA	p.S666R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	666	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.20283	100.031313	117.400004	43	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147336298	147336298	3785	7	C	A	A	A	350	27	CNTNAP2	1	1
CNTNAP2	26047	broad.mit.edu	37	7	147600746	147600746	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147600746T>C	uc003weu.1	+	c.2188T>C	c.(2188-2190)TGC>CGC	p.C730R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	730	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.246914	40.748391	45.483537	20	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147600746	147600746	3785	7	T	C	C	C	715	55	CNTNAP2	4	4
GIMAP2	26157	broad.mit.edu	37	7	150389579	150389579	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150389579G>T	uc003who.2	+	c.205G>T	c.(205-207)GGA>TGA	p.G69*	GIMAP1_uc003whp.2_Intron	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	69						integral to membrane	GTP binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.198795	71.280426	85.297336	33	133	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	150389579	150389579	6648	7	G	T	T	T	559	43	GIMAP2	5	2
GIMAP2	26157	broad.mit.edu	37	7	150389661	150389661	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150389661A>G	uc003who.2	+	c.287A>G	c.(286-288)CAG>CGG	p.Q96R	GIMAP1_uc003whp.2_Intron	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	96						integral to membrane	GTP binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.29703	71.849217	75.612421	30	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150389661	150389661	6648	7	A	G	G	G	91	7	GIMAP2	4	4
GIMAP1	170575	broad.mit.edu	37	7	150417295	150417295	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150417295C>T	uc003whp.2	+	c.227C>T	c.(226-228)ACG>ATG	p.T76M	GIMAP1_uc003whq.2_Missense_Mutation_p.T68M	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	68	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.164062	34.516853	48.169122	21	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150417295	150417295	6647	7	C	T	T	T	247	19	GIMAP1	1	1
ABCB8	11194	broad.mit.edu	37	7	150741097	150741097	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150741097G>A	uc003wil.3	+	c.1856G>A	c.(1855-1857)CGC>CAC	p.R619H	ABCB8_uc010lpx.2_Missense_Mutation_p.R602H|ABCB8_uc011kvd.1_Missense_Mutation_p.R514H|ABCB8_uc003wim.3_Missense_Mutation_p.R397H|ABCB8_uc003wik.3_Missense_Mutation_p.R602H	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	619	ABC transporter.					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)										0.111111	3.243616	7.247301	3	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150741097	150741097	48	7	G	A	A	A	494	38	ABCB8	1	1
MLL3	58508	broad.mit.edu	37	7	151845739	151845739	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:151845739C>A	uc003wla.2	-	c.13273G>T	c.(13273-13275)GAT>TAT	p.D4425Y	MLL3_uc003wkz.2_Missense_Mutation_p.D3543Y|MLL3_uc003wkx.2_Missense_Mutation_p.D583Y|MLL3_uc003wky.2_Missense_Mutation_p.D1989Y	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4425					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				0.353234	184.931277	188.71908	71	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151845739	151845739	10012	7	C	A	A	A	390	30	MLL3	2	2
TMEM195	392636	broad.mit.edu	37	7	15433805	15433805	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15433805C>A	uc003stb.1	-	c.610_splice	c.e6-1	p.V204_splice		NM_001004320	NP_001004320			transmembrane protein 195						ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process|oxidation-reduction process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0														0.15894	41.250081	57.963821	24	127	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	15433805	15433805	16652	7	C	A	A	A	312	24	TMEM195	5	2
UBE3C	9690	broad.mit.edu	37	7	156976595	156976595	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:156976595C>G	uc010lqs.2	+	c.1015C>G	c.(1015-1017)CTG>GTG	p.L339V	UBE3C_uc003wnf.2_Missense_Mutation_p.L296V|UBE3C_uc003wng.2_Missense_Mutation_p.L339V	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	339					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)										0.25731	121.604029	130.679224	44	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156976595	156976595	17439	7	C	G	G	G	363	28	UBE3C	3	3
UBE3C	9690	broad.mit.edu	37	7	157023956	157023956	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:157023956G>T	uc010lqs.2	+	c.2416G>T	c.(2416-2418)GCT>TCT	p.A806S	UBE3C_uc003wni.3_Missense_Mutation_p.A169S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	806	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|ovary(1)	2		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)										0.209302	41.300981	48.029577	18	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157023956	157023956	17439	7	G	T	T	T	598	46	UBE3C	2	2
PTPRN2	5799	broad.mit.edu	37	7	157874037	157874037	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:157874037C>G	uc011kwa.1	-	c.1745G>C	c.(1744-1746)AGC>ACC	p.S582T	PTPRN2_uc003wno.2_Missense_Mutation_p.S559T|PTPRN2_uc003wnp.2_Missense_Mutation_p.S542T|PTPRN2_uc003wnq.2_Missense_Mutation_p.S530T|PTPRN2_uc003wnr.2_Missense_Mutation_p.S521T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	559	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)	6	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)										0.157895	15.535966	21.903237	9	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157874037	157874037	13265	7	C	G	G	G	364	28	PTPRN2	3	3
BZW2	28969	broad.mit.edu	37	7	16721015	16721015	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:16721015C>A	uc003stl.2	+	c.325C>A	c.(325-327)CGA>AGA	p.R109R	BZW2_uc011jxx.1_5'UTR|BZW2_uc003stm.2_5'UTR|BZW2_uc003stj.2_Silent_p.R109R|BZW2_uc003stk.2_Silent_p.R33R|BZW2_uc003stn.1_Silent_p.R109R|BZW2_uc003sto.1_5'UTR|BZW2_uc003stp.2_5'UTR|BZW2_uc010kua.2_Silent_p.R109R	NM_001159767	NP_001153239	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	109					cell differentiation|nervous system development|RNA metabolic process		protein binding			ovary(1)	1	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)										0.546296	199.54023	199.742785	59	49	KEEP	---	---	---	---	capture		Silent	SNP	16721015	16721015	1613	7	C	A	A	A	295	23	BZW2	1	1
AHR	196	broad.mit.edu	37	7	17379180	17379180	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:17379180A>T	uc011jxz.1	+	c.1731A>T	c.(1729-1731)TTA>TTT	p.L577F	AHR_uc003stt.3_Non-coding_Transcript	NM_001621	NP_001612	P35869	AHR_HUMAN	aryl hydrocarbon receptor precursor	577					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|promoter binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulator activity			urinary_tract(1)|kidney(1)|pancreas(1)	3	Lung NSC(10;0.0392)|all_lung(11;0.0754)													0.25	130.459276	142.519671	53	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17379180	17379180	419	7	A	T	T	T	167	13	AHR	3	3
HDAC9	9734	broad.mit.edu	37	7	18669096	18669096	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:18669096A>G	uc003sui.2	+	c.788A>G	c.(787-789)GAG>GGG	p.E263G	HDAC9_uc003sue.2_Missense_Mutation_p.E260G|HDAC9_uc011jyd.1_Missense_Mutation_p.E260G|HDAC9_uc003suh.2_Missense_Mutation_p.E260G|HDAC9_uc003suj.2_Intron|HDAC9_uc011jya.1_Intron|HDAC9_uc003sua.1_Intron|HDAC9_uc011jyb.1_Intron|HDAC9_uc003sud.1_Missense_Mutation_p.E260G|HDAC9_uc011jyc.1_Intron|HDAC9_uc003suf.1_Missense_Mutation_p.E291G|HDAC9_uc010kud.1_Missense_Mutation_p.E263G|HDAC9_uc011jye.1_Missense_Mutation_p.E232G|HDAC9_uc011jyf.1_Intron|HDAC9_uc010kue.1_Missense_Mutation_p.E3G	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 5	260	Interaction with MAPK10 (By similarity).|Interaction with ETV6.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription corepressor activity|transcription repressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)									0.074713	-1.866437	30.45116	13	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18669096	18669096	7297	7	A	G	G	G	143	11	HDAC9	4	4
FERD3L	222894	broad.mit.edu	37	7	19184523	19184523	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:19184523C>G	uc003suo.1	-	c.463G>C	c.(463-465)GAG>CAG	p.E155Q		NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	155					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			large_intestine(1)	1														0.25	108.289764	116.915746	38	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19184523	19184523	6053	7	C	G	G	G	403	31	FERD3L	3	3
ABCB5	340273	broad.mit.edu	37	7	20691042	20691042	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:20691042G>T	uc010kuh.2	+	c.1333_splice	c.e13-1	p.I445_splice	ABCB5_uc003suw.3_Splice_Site_SNP|ABCB5_uc003suv.3_Splice_Site_SNP|ABCB5_uc011jyi.1_Splice_Site_SNP	NM_001163941	NP_001157413			ATP-binding cassette, sub-family B, member 5						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														0.267442	58.482725	62.685322	23	63	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	20691042	20691042	45	7	G	T	T	T	429	33	ABCB5	5	2
SP4	6671	broad.mit.edu	37	7	21469849	21469849	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21469849G>T	uc003sva.2	+	c.1066G>T	c.(1066-1068)GAA>TAA	p.E356*	SP4_uc003svb.2_Nonsense_Mutation_p.E43*	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	356					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|RNA polymerase II transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(3)	3														0.362832	116.04339	117.914479	41	72	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	21469849	21469849	15466	7	G	T	T	T	585	45	SP4	5	2
DNAH11	8701	broad.mit.edu	37	7	21599337	21599337	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21599337T>G	uc003svc.2	+	c.809T>G	c.(808-810)CTT>CGT	p.L270R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	270	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.225	20.149988	22.93364	9	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21599337	21599337	4781	7	T	G	G	G	728	56	DNAH11	4	4
DNAH11	8701	broad.mit.edu	37	7	21698649	21698650	+	Splice_Site_DNP	DNP	GG	CT	CT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21698649_21698650GG>CT	uc003svc.2	+	c.5343_splice	c.e30+1	p.Q1781_splice		NM_003777	NP_003768			dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.352	138.551084	140.970822	44	81	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	21698649	21698650	4781	7	GG	CT	CT	CT	451	35	DNAH11	5	3
DNAH11	8701	broad.mit.edu	37	7	21760405	21760405	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21760405A>G	uc003svc.2	+	c.7218A>G	c.(7216-7218)AAA>AAG	p.K2406K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2406					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.041237	-12.876631	9.072693	4	93	KEEP	---	---	---	---	capture		Silent	SNP	21760405	21760405	4781	7	A	G	G	G	37	3	DNAH11	4	4
DNAH11	8701	broad.mit.edu	37	7	21826313	21826313	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:21826313G>T	uc003svc.2	+	c.9690G>T	c.(9688-9690)ATG>ATT	p.M3230I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3230	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														0.076336	-6.66745	65.617281	30	363	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21826313	21826313	4781	7	G	T	T	T	611	47	DNAH11	2	2
HOXA2	3199	broad.mit.edu	37	7	27141938	27141938	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27141938G>T	uc003syh.2	-	c.182C>A	c.(181-183)CCC>CAC	p.P61H		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	61						nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.413793	31.389028	31.578471	12	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27141938	27141938	7584	7	G	T	T	T	559	43	HOXA2	2	2
TAX1BP1	8887	broad.mit.edu	37	7	27809349	27809349	+	Missense_Mutation	SNP	G	A	A	rs34347226		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27809349G>A	uc003szl.2	+	c.508G>A	c.(508-510)GTT>ATT	p.V170I	TAX1BP1_uc011jzo.1_Missense_Mutation_p.V170I|TAX1BP1_uc003szk.2_Missense_Mutation_p.V170I|TAX1BP1_uc011jzp.1_Missense_Mutation_p.V13I	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	170	Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)											0.216049	82.853095	94.893048	35	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27809349	27809349	16116	7	G	A	A	A	520	40	TAX1BP1	1	1
CPVL	54504	broad.mit.edu	37	7	29111968	29111968	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:29111968C>T	uc003szv.2	-	c.681G>A	c.(679-681)AAG>AAA	p.K227K	CPVL_uc003szw.2_Silent_p.K227K|CPVL_uc003szx.2_Silent_p.K227K	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	227					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2														0.243816	179.146963	196.068313	69	214	KEEP	---	---	---	---	capture		Silent	SNP	29111968	29111968	3974	7	C	T	T	T	415	32	CPVL	2	2
PLEKHA8	84725	broad.mit.edu	37	7	30118307	30118307	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:30118307G>C	uc003tam.1	+	c.1464G>C	c.(1462-1464)AGG>AGC	p.R488S	PLEKHA8_uc003tao.2_Intron|PLEKHA8_uc003tap.1_Intron|PLEKHA8_uc003tan.2_Intron	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	488					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4														0.109453	18.701182	49.070994	22	179	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30118307	30118307	12488	7	G	C	C	C	547	43	PLEKHA8	3	3
NOD1	10392	broad.mit.edu	37	7	30490947	30490947	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:30490947A>G	uc003tav.2	-	c.2086T>C	c.(2086-2088)TCC>CCC	p.S696P		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	696					activation of caspase activity|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)	1														0.192308	35.687552	42.577625	15	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30490947	30490947	10919	7	A	G	G	G	143	11	NOD1	4	4
GHRHR	2692	broad.mit.edu	37	7	31015438	31015438	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31015438A>T	uc003tbx.2	+	c.929A>T	c.(928-930)AAA>ATA	p.K310I	GHRHR_uc003tbw.1_Missense_Mutation_p.K310I|GHRHR_uc003tby.2_Missense_Mutation_p.K246I|GHRHR_uc003tbz.2_Missense_Mutation_p.E76D	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	310	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			large_intestine(1)|ovary(1)	2					Sermorelin(DB00010)									0.474359	108.17544	108.219303	37	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31015438	31015438	6641	7	A	T	T	T	13	1	GHRHR	3	3
ADCYAP1R1	117	broad.mit.edu	37	7	31132262	31132262	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31132262A>C	uc003tcc.1	+	c.959A>C	c.(958-960)AAC>ACC	p.N320T	ADCYAP1R1_uc003tca.1_Missense_Mutation_p.N320T|ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.N299T|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.N320T|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.N320T|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.N22T	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	320	Helical; Name=5; (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1						Ovarian(44;225 1186 2158 11092)								0.127273	9.795085	17.24019	7	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31132262	31132262	304	7	A	C	C	C	26	2	ADCYAP1R1	4	4
PDE1C	5137	broad.mit.edu	37	7	31793148	31793148	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31793148A>T	uc003tco.1	-	c.2160T>A	c.(2158-2160)CGT>CGA	p.R720R	PDE1C_uc003tcm.1_Silent_p.R660R|PDE1C_uc003tcn.1_Silent_p.R660R	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	660					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)											0.515267	401.469453	401.520861	135	127	KEEP	---	---	---	---	capture		Silent	SNP	31793148	31793148	12056	7	A	T	T	T	118	10	PDE1C	3	3
PDE1C	5137	broad.mit.edu	37	7	31864539	31864539	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:31864539C>A	uc003tco.1	-	c.1528G>T	c.(1528-1530)GTG>TTG	p.V510L	PDE1C_uc003tcm.1_Missense_Mutation_p.V450L|PDE1C_uc003tcn.1_Missense_Mutation_p.V450L|PDE1C_uc003tcr.2_Missense_Mutation_p.V450L|PDE1C_uc003tcs.2_Missense_Mutation_p.V450L	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	450	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			central_nervous_system(1)	1			GBM - Glioblastoma multiforme(11;0.216)											0.177551	185.044503	233.015991	87	403	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31864539	31864539	12056	7	C	A	A	A	221	17	PDE1C	2	2
BMPER	168667	broad.mit.edu	37	7	34014328	34014328	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:34014328G>T	uc011kap.1	+	c.508G>T	c.(508-510)GGT>TGT	p.G170C		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	170	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3														0.381188	217.115294	219.619741	77	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34014328	34014328	1493	7	G	T	T	T	559	43	BMPER	2	2
EEPD1	80820	broad.mit.edu	37	7	36327311	36327312	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:36327311_36327312GA>TT	uc003tfa.2	+	c.1240_1241GA>TT	c.(1240-1242)GAG>TTG	p.E414L		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	414					DNA repair|protein secretion	integral to membrane	DNA binding				0														0.483271	413.379319	413.441704	130	139	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	36327311	36327312	5119	7	GA	TT	TT	TT	481	37	EEPD1	1	1
KIAA0895	23366	broad.mit.edu	37	7	36423521	36423521	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:36423521C>G	uc003tfd.2	-	c.125G>C	c.(124-126)AGA>ACA	p.R42T		NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	hypothetical protein LOC23366 isoform 1	42	Arg-rich.										0														0.208955	36.111716	41.366216	14	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36423521	36423521	8504	7	C	G	G	G	416	32	KIAA0895	3	3
GLI3	2737	broad.mit.edu	37	7	42262847	42262847	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:42262847C>A	uc011kbh.1	-	c.6G>T	c.(4-6)GAG>GAT	p.E2D		NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	2					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|transcription repressor activity|zinc ion binding			large_intestine(2)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)|pancreas(1)	8										806				0.363158	195.525603	198.654878	69	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42262847	42262847	6707	7	C	A	A	A	311	24	GLI3	2	2
HECW1	23072	broad.mit.edu	37	7	43484518	43484518	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43484518G>T	uc003tid.1	+	c.1747G>T	c.(1747-1749)GAC>TAC	p.D583Y	HECW1_uc011kbi.1_Missense_Mutation_p.D583Y	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	583					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.432432	46.293734	46.441086	16	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43484518	43484518	7325	7	G	T	T	T	533	41	HECW1	2	2
HECW1	23072	broad.mit.edu	37	7	43594353	43594353	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43594353G>A	uc003tid.1	+	c.4673G>A	c.(4672-4674)TGC>TAC	p.C1558Y	HECW1_uc011kbi.1_Missense_Mutation_p.C1524Y	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1558	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(7)|breast(2)|skin(2)|pancreas(1)|lung(1)	13										944				0.589286	98.374081	98.762332	33	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43594353	43594353	7325	7	G	A	A	A	598	46	HECW1	2	2
MYL7	58498	broad.mit.edu	37	7	44179969	44179969	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44179969G>T	uc003tkg.2	-	c.251C>A	c.(250-252)CCC>CAC	p.P84H		NM_021223	NP_067046	Q01449	MLRA_HUMAN	myosin light chain 2a	84					actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity				0														0.25	80.689942	88.219921	33	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44179969	44179969	10448	7	G	T	T	T	559	43	MYL7	2	2
GCK	2645	broad.mit.edu	37	7	44192957	44192957	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44192957C>G	uc003tkk.1	-	c.154G>C	c.(154-156)GAA>CAA	p.E52Q	GCK_uc003tkj.1_Missense_Mutation_p.E50Q|GCK_uc003tkl.2_Missense_Mutation_p.E51Q	NM_033507	NP_277042	P35557	HXK4_HUMAN	glucokinase isoform 2	51					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			lung(1)|skin(1)	2										356				0.427419	180.262261	180.83054	53	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44192957	44192957	6559	7	C	G	G	G	377	29	GCK	3	3
NPC1L1	29881	broad.mit.edu	37	7	44560418	44560418	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:44560418C>T	uc003tlb.2	-	c.3082G>A	c.(3082-3084)GGC>AGC	p.G1028S	NPC1L1_uc003tlc.2_Missense_Mutation_p.G1028S|NPC1L1_uc011kbw.1_Missense_Mutation_p.G982S|NPC1L1_uc003tla.2_Missense_Mutation_p.G31S	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1028	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)	4					Ezetimibe(DB00973)									0.058608	-20.876992	34.81423	16	257	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44560418	44560418	10975	7	C	T	T	T	299	23	NPC1L1	1	1
MYO1G	64005	broad.mit.edu	37	7	45016164	45016164	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45016164T>C	uc003tmh.2	-	c.397A>G	c.(397-399)AGG>GGG	p.R133G	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Missense_Mutation_p.R18G|MYO1G_uc003tmi.1_Missense_Mutation_p.R45G|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	133	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|pancreas(1)	3														0.555556	50.209708	50.280364	15	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45016164	45016164	10469	7	T	C	C	C	700	54	MYO1G	4	4
IGFBP1	3484	broad.mit.edu	37	7	45928285	45928285	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45928285G>T	uc003tnp.2	+	c.34G>T	c.(34-36)GTA>TTA	p.V12L	IGFBP1_uc003tno.3_Missense_Mutation_p.V12L|IGFBP1_uc010kyn.2_Missense_Mutation_p.V12L	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	12						extracellular space	insulin-like growth factor binding				0														0.333333	17.400263	17.925845	7	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45928285	45928285	7879	7	G	T	T	T	572	44	IGFBP1	2	2
TNS3	64759	broad.mit.edu	37	7	47336694	47336694	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47336694T>A	uc003tnv.2	-	c.3662A>T	c.(3661-3663)CAG>CTG	p.Q1221L	TNS3_uc003tnw.2_Missense_Mutation_p.Q1221L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	1221	SH2.					focal adhesion	protein binding			ovary(4)	4														0.211712	110.489439	127.567537	47	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47336694	47336694	16885	7	T	A	A	A	715	55	TNS3	3	3
PKD1L1	168507	broad.mit.edu	37	7	47840434	47840434	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47840434C>A	uc003tny.1	-	c.8006G>T	c.(8005-8007)CGA>CTA	p.R2669L	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2669	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.163265	46.607148	62.367963	24	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47840434	47840434	12388	7	C	A	A	A	403	31	PKD1L1	1	1
PKD1L1	168507	broad.mit.edu	37	7	47879177	47879177	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47879177T>C	uc003tny.1	-	c.5636A>G	c.(5635-5637)CAC>CGC	p.H1879R		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1879	PLAT.|Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.235294	7.989273	9.081133	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47879177	47879177	12388	7	T	C	C	C	767	59	PKD1L1	4	4
PKD1L1	168507	broad.mit.edu	37	7	47968929	47968929	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:47968929C>A	uc003tny.1	-	c.932G>T	c.(931-933)CGT>CTT	p.R311L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	311	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(7)|breast(1)	8														0.5575	747.662399	748.817016	223	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47968929	47968929	12388	7	C	A	A	A	247	19	PKD1L1	1	1
SUN3	256979	broad.mit.edu	37	7	48065474	48065474	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48065474C>G	uc003tof.2	-	c.184G>C	c.(184-186)GGA>CGA	p.G62R	SUN3_uc003tog.2_Missense_Mutation_p.G62R|SUN3_uc011kcf.1_Missense_Mutation_p.R17T	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 1	62	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1														0.12069	7.182021	15.367734	7	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48065474	48065474	15913	7	C	G	G	G	312	24	SUN3	3	3
ABCA13	154664	broad.mit.edu	37	7	48311973	48311973	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:48311973G>T	uc003toq.2	+	c.2710G>T	c.(2710-2712)GAA>TAA	p.E904*	ABCA13_uc010kyr.2_Nonsense_Mutation_p.E407*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	904					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10														0.494048	247.511611	247.516893	83	85	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48311973	48311973	32	7	G	T	T	T	585	45	ABCA13	5	2
IKZF1	10320	broad.mit.edu	37	7	50467763	50467763	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:50467763C>T	uc003tow.3	+	c.998C>T	c.(997-999)ACG>ATG	p.T333M	IKZF1_uc003tox.3_Missense_Mutation_p.T291M|IKZF1_uc003toy.3_Missense_Mutation_p.T291M|IKZF1_uc011kck.1_Missense_Mutation_p.T246M|IKZF1_uc003toz.3_Missense_Mutation_p.T303M|IKZF1_uc010kyx.2_Missense_Mutation_p.T73M|IKZF1_uc003tpa.3_Missense_Mutation_p.T75M	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	333					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding			haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)								226				0.097561	2.083055	8.723656	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50467763	50467763	7915	7	C	T	T	T	247	19	IKZF1	1	1
RBAK	57786	broad.mit.edu	37	7	5104121	5104121	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:5104121A>T	uc010kss.1	+	c.1034A>T	c.(1033-1035)TAC>TTC	p.Y345F	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.Y345F	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	345	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription repressor activity|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)										0.246684	234.812207	256.8179	93	284	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5104121	5104121	13561	7	A	T	T	T	182	14	RBAK	3	3
COBL	23242	broad.mit.edu	37	7	51095861	51095861	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:51095861G>C	uc003tps.2	-	c.3103C>G	c.(3103-3105)CTG>GTG	p.L1035V	COBL_uc003tpr.3_Missense_Mutation_p.L978V|COBL_uc011kcl.1_Missense_Mutation_p.L978V|COBL_uc003tpp.3_Missense_Mutation_p.L764V|COBL_uc003tpq.3_Missense_Mutation_p.L919V|COBL_uc003tpo.3_Missense_Mutation_p.L520V	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	978								p.L978M(1)		ovary(2)|skin(1)	3	Glioma(55;0.08)					NSCLC(189;2119 2138 12223 30818 34679)								0.206186	47.780147	55.525931	20	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51095861	51095861	3791	7	G	C	C	C	464	36	COBL	3	3
POM121L12	285877	broad.mit.edu	37	7	53104205	53104205	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:53104205G>T	uc003tpz.2	+	c.841G>T	c.(841-843)GTC>TTC	p.V281F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	281											0														0.25	63.794042	69.643568	26	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53104205	53104205	12669	7	G	T	T	T	572	44	POM121L12	2	2
FBXL18	80028	broad.mit.edu	37	7	5540452	5540452	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:5540452G>A	uc003soo.2	-	c.1448C>T	c.(1447-1449)CCC>CTC	p.P483L	FBXL18_uc003son.3_Missense_Mutation_p.P483L	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	483	LRR 8.									central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)										0.363636	11.196153	11.37645	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5540452	5540452	5951	7	G	A	A	A	559	43	FBXL18	2	2
ZNF479	90827	broad.mit.edu	37	7	57188200	57188200	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:57188200C>A	uc010kzo.2	-	c.922G>T	c.(922-924)GTA>TTA	p.V308L		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	308	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3			GBM - Glioblastoma multiforme(1;9.18e-12)											0.042105	-12.965884	8.411641	4	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57188200	57188200	18527	7	C	A	A	A	247	19	ZNF479	1	1
ZNF107	51427	broad.mit.edu	37	7	64168335	64168335	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:64168335C>A	uc003ttd.2	+	c.1653C>A	c.(1651-1653)CCC>CCA	p.P551P	ZNF107_uc003tte.2_Silent_p.P551P	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)												0.25	69.403566	75.729979	28	84	KEEP	---	---	---	---	capture		Silent	SNP	64168335	64168335	18306	7	C	A	A	A	301	24	ZNF107	2	2
CALN1	83698	broad.mit.edu	37	7	71488712	71488712	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:71488712C>A	uc003twb.3	-	c.431G>T	c.(430-432)GGC>GTC	p.G144V	CALN1_uc003twa.3_Missense_Mutation_p.G102V|CALN1_uc003twc.3_Missense_Mutation_p.G102V	NM_031468	NP_113656	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 1	102	EF-hand 2.|Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding				0		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)												0.155914	49.977461	70.987893	29	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71488712	71488712	2708	7	C	A	A	A	338	26	CALN1	2	2
TRIM50	135892	broad.mit.edu	37	7	72730668	72730668	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:72730668C>A	uc010lbd.1	-	c.770G>T	c.(769-771)CGG>CTG	p.R257L	FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.R257L|TRIM50_uc003txz.1_Missense_Mutation_p.R256L	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	tripartite motif protein 50A	257						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding				0														0.325	111.849746	115.077133	39	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72730668	72730668	17072	7	C	A	A	A	299	23	TRIM50	1	1
FZD9	8326	broad.mit.edu	37	7	72850102	72850102	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:72850102A>T	uc003tyb.2	+	c.1765A>T	c.(1765-1767)ACA>TCA	p.T589S		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	589	Cytoplasmic (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				Pancreas(144;909 1878 36867 38226 39554)								0.2	13.98043	16.950204	7	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72850102	72850102	6388	7	A	T	T	T	78	6	FZD9	3	3
CLIP2	7461	broad.mit.edu	37	7	73811555	73811555	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:73811555A>T	uc003uam.2	+	c.2872A>T	c.(2872-2874)ACC>TCC	p.T958S	CLIP2_uc003uan.2_Missense_Mutation_p.T923S	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	958	Potential.					microtubule associated complex					0														0.225806	15.11043	17.251199	7	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73811555	73811555	3671	7	A	T	T	T	130	10	CLIP2	3	3
GTF2I	2969	broad.mit.edu	37	7	74113371	74113371	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:74113371G>C	uc003uau.2	+	c.319G>C	c.(319-321)GTA>CTA	p.V107L	GTF2I_uc003uat.2_Missense_Mutation_p.V107L|GTF2I_uc003uav.2_Missense_Mutation_p.V107L|GTF2I_uc003uaw.2_Missense_Mutation_p.V107L|GTF2I_uc003uay.2_Missense_Mutation_p.V107L|GTF2I_uc003uax.2_Missense_Mutation_p.V107L	NM_032999	NP_127492	P78347	GTF2I_HUMAN	general transcription factor IIi isoform 1	107	GTF2I-like 1.				regulation of transcription, DNA-dependent|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|general RNA polymerase II transcription factor activity|protein binding|sequence-specific DNA binding transcription factor activity				0														0.525	75.077579	75.099304	21	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74113371	74113371	7147	7	G	C	C	C	624	48	GTF2I	3	3
COL28A1	340267	broad.mit.edu	37	7	7572451	7572451	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:7572451T>C	uc003src.1	-	c.56A>G	c.(55-57)CAA>CGA	p.Q19R	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	19					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity				0		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)										0.498498	523.530317	523.531015	166	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7572451	7572451	3824	7	T	C	C	C	819	63	COL28A1	4	4
MAGI2	9863	broad.mit.edu	37	7	77649214	77649214	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:77649214G>A	uc003ugx.2	-	c.3786C>T	c.(3784-3786)CTC>CTT	p.L1262L	MAGI2_uc003ugy.2_Silent_p.L1248L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	1262						cell junction|synapse|synaptosome	phosphatase binding			ovary(5)	5		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)												0.38	54.911676	55.543674	19	31	KEEP	---	---	---	---	capture		Silent	SNP	77649214	77649214	9574	7	G	A	A	A	470	37	MAGI2	1	1
CACNA2D1	781	broad.mit.edu	37	7	81624234	81624234	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:81624234C>A	uc003uhr.1	-	c.1684G>T	c.(1684-1686)GGG>TGG	p.G562W		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	581	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)									0.346154	101.560167	103.737274	36	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81624234	81624234	2664	7	C	A	A	A	273	21	CACNA2D1	2	2
PCLO	27445	broad.mit.edu	37	7	82579666	82579666	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82579666C>A	uc003uhx.2	-	c.10238G>T	c.(10237-10239)AGA>ATA	p.R3413I	PCLO_uc003uhv.2_Missense_Mutation_p.R3413I|PCLO_uc010lec.2_Missense_Mutation_p.R378I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3344					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.36036	218.545867	222.352388	80	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82579666	82579666	12003	7	C	A	A	A	416	32	PCLO	2	2
PCLO	27445	broad.mit.edu	37	7	82584629	82584629	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82584629T>A	uc003uhx.2	-	c.5640A>T	c.(5638-5640)GTA>GTT	p.V1880V	PCLO_uc003uhv.2_Silent_p.V1880V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1811					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.522436	502.128507	502.265513	163	149	KEEP	---	---	---	---	capture		Silent	SNP	82584629	82584629	12003	7	T	A	A	A	730	57	PCLO	3	3
PCLO	27445	broad.mit.edu	37	7	82584925	82584925	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82584925C>A	uc003uhx.2	-	c.5344G>T	c.(5344-5346)GAA>TAA	p.E1782*	PCLO_uc003uhv.2_Nonsense_Mutation_p.E1782*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1713					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.290036	391.351313	413.595588	163	399	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	82584925	82584925	12003	7	C	A	A	A	390	30	PCLO	5	2
SEMA3E	9723	broad.mit.edu	37	7	83277771	83277771	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:83277771G>T	uc003uhy.1	-	c.88C>A	c.(88-90)CAC>AAC	p.H30N		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	30					axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)												0.227941	75.468671	84.696216	31	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83277771	83277771	14514	7	G	T	T	T	611	47	SEMA3E	2	2
SEMA3D	223117	broad.mit.edu	37	7	84636208	84636208	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:84636208A>G	uc003uic.2	-	c.1818T>C	c.(1816-1818)TTT>TTC	p.F606F	SEMA3D_uc010led.2_Silent_p.F606F|SEMA3D_uc003uib.2_Silent_p.F245F	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	606	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						Ovarian(63;442 1191 17318 29975 31528)								0.186813	120.37285	145.448361	51	222	KEEP	---	---	---	---	capture		Silent	SNP	84636208	84636208	14513	7	A	G	G	G	167	13	SEMA3D	4	4
KIAA1324L	222223	broad.mit.edu	37	7	86547761	86547761	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:86547761C>A	uc011kha.1	-	c.1590G>T	c.(1588-1590)ATG>ATT	p.M530I	KIAA1324L_uc003uif.1_Missense_Mutation_p.M290I|KIAA1324L_uc011kgz.1_Missense_Mutation_p.M416I|KIAA1324L_uc003uie.2_Missense_Mutation_p.M363I	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	hypothetical protein LOC222223 isoform 1	530	Extracellular (Potential).					integral to membrane				ovary(6)	6	Esophageal squamous(14;0.0058)													0.354331	267.377721	272.128011	90	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86547761	86547761	8533	7	C	A	A	A	273	21	KIAA1324L	2	2
ABCB4	5244	broad.mit.edu	37	7	87069063	87069063	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87069063G>T	uc003uiv.1	-	c.1651C>A	c.(1651-1653)CCC>ACC	p.P551T	ABCB4_uc003uiw.1_Missense_Mutation_p.P551T|ABCB4_uc003uix.1_Missense_Mutation_p.P551T	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	551	ABC transporter 1.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|pancreas(1)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)													0.230392	105.151982	118.734886	47	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87069063	87069063	44	7	G	T	T	T	559	43	ABCB4	2	2
ABCB4	5244	broad.mit.edu	37	7	87076410	87076410	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87076410G>T	uc003uiv.1	-	c.945C>A	c.(943-945)GCC>GCA	p.A315A	ABCB4_uc003uiw.1_Silent_p.A315A|ABCB4_uc003uix.1_Silent_p.A315A	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	315	Helical; (By similarity).|ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|pancreas(1)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)													0.112903	7.705299	16.853868	7	55	KEEP	---	---	---	---	capture		Silent	SNP	87076410	87076410	44	7	G	T	T	T	444	35	ABCB4	2	2
ABCB1	5243	broad.mit.edu	37	7	87148758	87148758	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87148758G>A	uc003uiz.1	-	c.2811C>T	c.(2809-2811)ATC>ATT	p.I937I	ABCB1_uc011khc.1_Silent_p.I873I	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	937	Helical; (Potential).|ABC transmembrane type-1 2.					apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)									0.15625	38.513445	52.954012	20	108	KEEP	---	---	---	---	capture		Silent	SNP	87148758	87148758	41	7	G	A	A	A	421	33	ABCB1	2	2
ADAM22	53616	broad.mit.edu	37	7	87737491	87737491	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87737491G>A	uc003ujp.1	+	c.547G>A	c.(547-549)GGA>AGA	p.G183R	ADAM22_uc003uji.1_Missense_Mutation_p.G130R|ADAM22_uc003ujj.1_Missense_Mutation_p.G131R|ADAM22_uc003ujk.1_Missense_Mutation_p.G131R|ADAM22_uc003ujl.1_Missense_Mutation_p.G131R|ADAM22_uc003ujn.2_Missense_Mutation_p.G131R|ADAM22_uc003ujm.2_Missense_Mutation_p.G131R|ADAM22_uc003ujo.2_Missense_Mutation_p.G131R	NM_004194	NP_004185	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 4	131					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)							704				0.238095	35.992039	39.941036	15	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87737491	87737491	245	7	G	A	A	A	559	43	ADAM22	2	2
C7orf63	79846	broad.mit.edu	37	7	89900878	89900878	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:89900878G>C	uc010lep.2	+	c.571G>C	c.(571-573)GCT>CCT	p.A191P	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Missense_Mutation_p.A173P|C7orf63_uc010leo.2_Missense_Mutation_p.A189P	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	hypothetical protein LOC79846 isoform 1	191							binding			ovary(1)	1														0.236715	131.323678	144.402732	49	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89900878	89900878	2516	7	G	C	C	C	546	42	C7orf63	3	3
ANKIB1	54467	broad.mit.edu	37	7	91972513	91972513	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:91972513C>A	uc003ulw.2	+	c.963C>A	c.(961-963)ATC>ATA	p.I321I		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	321							protein binding|zinc ion binding				0	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)											0.226277	73.248816	82.678175	31	106	KEEP	---	---	---	---	capture		Silent	SNP	91972513	91972513	633	7	C	A	A	A	369	29	ANKIB1	2	2
SAMD9L	219285	broad.mit.edu	37	7	92765029	92765029	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92765029C>A	uc003umh.1	-	c.256G>T	c.(256-258)GAT>TAT	p.D86Y	SAMD9L_uc003umj.1_Missense_Mutation_p.D86Y|SAMD9L_uc003umi.1_Missense_Mutation_p.D86Y|SAMD9L_uc010lfb.1_Missense_Mutation_p.D86Y|SAMD9L_uc003umk.1_Missense_Mutation_p.D86Y|SAMD9L_uc010lfc.1_Missense_Mutation_p.D86Y|SAMD9L_uc010lfd.1_Missense_Mutation_p.D86Y|SAMD9L_uc011khx.1_Missense_Mutation_p.D77Y	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	86										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)											0.383929	366.797545	370.763611	129	207	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92765029	92765029	14307	7	C	A	A	A	377	29	SAMD9L	2	2
PON1	5444	broad.mit.edu	37	7	95024020	95024020	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:95024020C>A	uc011kih.1	-	c.81G>T	c.(79-81)AGG>AGT	p.R27S	PON3_uc003unt.2_Missense_Mutation_p.R27S|PON3_uc011kii.1_Missense_Mutation_p.R27S	PON3		P27169	PON1_HUMAN	SubName: Full=cDNA FLJ57644, highly similar to Serum paraoxonase/arylesterase 1 (EC 3.1.1.2);	27					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GBM(119;715 1622 17358 22490 33240)								0.208333	41.942685	49.510562	20	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95024020	95024020	12677	7	C	A	A	A	285	22	PON1	2	2
ASNS	440	broad.mit.edu	37	7	97481701	97481701	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:97481701C>A	uc003uot.3	-	c.1556G>T	c.(1555-1557)CGT>CTT	p.R519L	ASNS_uc011kin.1_Missense_Mutation_p.R436L|ASNS_uc003uou.3_Missense_Mutation_p.R519L|ASNS_uc003uov.3_Missense_Mutation_p.R519L|ASNS_uc011kio.1_Missense_Mutation_p.R498L|ASNS_uc003uow.3_Missense_Mutation_p.R498L|ASNS_uc003uox.3_Missense_Mutation_p.R436L	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	519	Asparagine synthetase.				asparagine biosynthetic process|cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)								0.213873	90.585949	103.6642	37	136	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97481701	97481701	1067	7	C	A	A	A	247	19	ASNS	1	1
LMTK2	22853	broad.mit.edu	37	7	97821251	97821251	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:97821251G>T	uc003upd.1	+	c.1474G>T	c.(1474-1476)GGC>TGC	p.G492C		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	492					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(8)|pancreas(2)|large_intestine(1)	11	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)									547				0.263158	36.761409	39.614748	15	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97821251	97821251	9188	7	G	T	T	T	559	43	LMTK2	2	2
GAL3ST4	79690	broad.mit.edu	37	7	99758406	99758406	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99758406C>A	uc003utt.2	-	c.606G>T	c.(604-606)GGG>GGT	p.G202G	C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Silent_p.G202G|GAL3ST4_uc010lgq.2_Silent_p.G140G	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	202	Lumenal (Potential).			RGDH -> VGTT (in Ref. 2; AAL55759).	cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.228261	42.415931	48.67039	21	71	KEEP	---	---	---	---	capture		Silent	SNP	99758406	99758406	6464	7	C	A	A	A	275	22	GAL3ST4	2	2
VPS13B	157680	broad.mit.edu	37	8	100182286	100182286	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:100182286G>T	uc003yiv.2	+	c.2228G>T	c.(2227-2229)GGA>GTA	p.G743V	VPS13B_uc003yiw.2_Missense_Mutation_p.G743V|VPS13B_uc003yit.2_Missense_Mutation_p.G743V|VPS13B_uc003yiu.1_Missense_Mutation_p.G743V|VPS13B_uc003yix.1_Missense_Mutation_p.G214V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	743					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				0.434783	116.485916	116.826939	40	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100182286	100182286	17757	8	G	T	T	T	533	41	VPS13B	2	2
VPS13B	157680	broad.mit.edu	37	8	100587926	100587926	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:100587926G>T	uc003yiv.2	+	c.5065G>T	c.(5065-5067)GTT>TTT	p.V1689F	VPS13B_uc003yiw.2_Missense_Mutation_p.V1664F	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1689					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				0.436975	165.703477	166.110884	52	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100587926	100587926	17757	8	G	T	T	T	520	40	VPS13B	1	1
SNX31	169166	broad.mit.edu	37	8	101601191	101601191	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:101601191G>A	uc003yjr.2	-	c.995C>T	c.(994-996)ACG>ATG	p.T332M	SNX31_uc011lha.1_Missense_Mutation_p.T127M|SNX31_uc011lhb.1_Missense_Mutation_p.T233M	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	332					cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)											0.462963	74.288405	74.350192	25	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101601191	101601191	15401	8	G	A	A	A	520	40	SNX31	1	1
ZNF706	51123	broad.mit.edu	37	8	102212243	102212243	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:102212243T>C	uc003yka.2	-	c.218A>G	c.(217-219)GAT>GGT	p.D73G	ZNF706_uc003ykb.2_Missense_Mutation_p.D73G	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	HSPC038 protein	73						intracellular	zinc ion binding			ovary(2)	2	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)											0.386667	93.559582	94.403265	29	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102212243	102212243	18706	8	T	C	C	C	650	50	ZNF706	4	4
ZNF706	51123	broad.mit.edu	37	8	102212294	102212294	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:102212294T>A	uc003yka.2	-	c.167A>T	c.(166-168)CAG>CTG	p.Q56L	ZNF706_uc003ykb.2_Missense_Mutation_p.Q56L	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	HSPC038 protein	56	C2H2-type.					intracellular	zinc ion binding			ovary(2)	2	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)											0.443182	121.747786	122.004268	39	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102212294	102212294	18706	8	T	A	A	A	715	55	ZNF706	3	3
PRSS55	203074	broad.mit.edu	37	8	10396302	10396302	+	Nonstop_Mutation	SNP	G	C	C	rs112308687		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10396302G>C	uc003wta.2	+	c.1058G>C	c.(1057-1059)TGA>TCA	p.*353S	PRSS55_uc003wtb.2_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	353					proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1														0.842105	355.377142	368.102651	96	18	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	10396302	10396302	13085	8	G	C	C	C	581	45	PRSS55	5	3
RIMS2	9699	broad.mit.edu	37	8	104898178	104898178	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104898178A>T	uc003yls.2	+	c.685A>T	c.(685-687)ACT>TCT	p.T229S	RIMS2_uc003ylp.2_Missense_Mutation_p.T451S|RIMS2_uc003ylw.2_Missense_Mutation_p.T259S|RIMS2_uc003ylq.2_Missense_Mutation_p.T259S|RIMS2_uc003ylr.2_Missense_Mutation_p.T259S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	482					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				0.492187	192.807005	192.81397	63	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104898178	104898178	13845	8	A	T	T	T	182	14	RIMS2	3	3
C8orf74	203076	broad.mit.edu	37	8	10557834	10557834	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10557834C>A	uc003wtd.1	+	c.738C>A	c.(736-738)GCC>GCA	p.A246A	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	hypothetical protein LOC203076	246											0				COAD - Colon adenocarcinoma(149;0.0811)										0.717949	91.911309	93.574381	28	11	KEEP	---	---	---	---	capture		Silent	SNP	10557834	10557834	2548	8	C	A	A	A	262	21	C8orf74	2	2
EIF3E	3646	broad.mit.edu	37	8	109240540	109240540	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:109240540G>A	uc003ymu.2	-	c.678C>T	c.(676-678)CCC>CCT	p.P226P	EIF3E_uc003ymt.2_Silent_p.P177P|EIF3E_uc003ymv.2_Silent_p.P133P|EIF3E_uc010mci.1_Silent_p.P226P	NM_001568	NP_001559	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3,	226					negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding|translation initiation factor activity			ovary(2)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GBM(15;360 410 8460 34179 52246)								0.375	217.396472	220.130287	75	125	KEEP	---	---	---	---	capture		Silent	SNP	109240540	109240540	5206	8	G	A	A	A	600	47	EIF3E	2	2
PKHD1L1	93035	broad.mit.edu	37	8	110456009	110456009	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110456009C>G	uc003yne.2	+	c.4669C>G	c.(4669-4671)CTA>GTA	p.L1557V		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1557	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.5	135.700067	135.700067	40	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110456009	110456009	12397	8	C	G	G	G	363	28	PKHD1L1	3	3
PKHD1L1	93035	broad.mit.edu	37	8	110509228	110509228	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:110509228C>A	uc003yne.2	+	c.10408C>A	c.(10408-10410)CTT>ATT	p.L3470I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3470	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)											0.52381	275.700679	275.783152	88	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110509228	110509228	12397	8	C	A	A	A	312	24	PKHD1L1	2	2
AMAC1L2	83650	broad.mit.edu	37	8	11188962	11188962	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11188962G>T	uc003wtp.1	+	c.347G>T	c.(346-348)GGA>GTA	p.G116V		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	116	DUF6 1.|Helical; (Potential).					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)										0.882979	258.65787	272.202838	83	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11188962	11188962	563	8	G	T	T	T	533	41	AMAC1L2	2	2
AMAC1L2	83650	broad.mit.edu	37	8	11188988	11188988	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11188988G>T	uc003wtp.1	+	c.373G>T	c.(373-375)GTG>TTG	p.V125L		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	125	DUF6 1.					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)										0.873418	225.986221	236.990306	69	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11188988	11188988	563	8	G	T	T	T	572	44	AMAC1L2	2	2
CSMD3	114788	broad.mit.edu	37	8	113323366	113323366	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113323366G>A	uc003ynu.2	-	c.7726C>T	c.(7726-7728)CCT>TCT	p.P2576S	CSMD3_uc003yns.2_Missense_Mutation_p.P1778S|CSMD3_uc003ynt.2_Missense_Mutation_p.P2536S|CSMD3_uc011lhx.1_Missense_Mutation_p.P2472S|CSMD3_uc003ynw.1_Missense_Mutation_p.P287S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2576	Extracellular (Potential).|Sushi 14.					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)			0.516854	284.80609	284.850317	92	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113323366	113323366	4087	8	G	A	A	A	572	44	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113662443	113662443	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113662443G>T	uc003ynu.2	-	c.3140C>A	c.(3139-3141)CCC>CAC	p.P1047H	CSMD3_uc003yns.2_Missense_Mutation_p.P319H|CSMD3_uc003ynt.2_Missense_Mutation_p.P1007H|CSMD3_uc011lhx.1_Missense_Mutation_p.P943H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1047	Extracellular (Potential).|Sushi 5.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52									p.P1047H(SNU503-Tumor)	2888	TCGA Ovarian(7;0.080)			0.452632	243.247385	243.626864	86	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113662443	113662443	4087	8	G	T	T	T	559	43	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113697652	113697652	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113697652A>G	uc003ynu.2	-	c.2465T>C	c.(2464-2466)TTT>TCT	p.F822S	CSMD3_uc003yns.2_Missense_Mutation_p.F94S|CSMD3_uc003ynt.2_Missense_Mutation_p.F782S|CSMD3_uc011lhx.1_Missense_Mutation_p.F718S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	822	Extracellular (Potential).|CUB 4.					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)			0.386364	168.399738	169.892049	51	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113697652	113697652	4087	8	A	G	G	G	13	1	CSMD3	4	4
GATA4	2626	broad.mit.edu	37	8	11607661	11607661	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:11607661G>T	uc011kxc.1	+	c.828G>T	c.(826-828)CAG>CAT	p.Q276H	GATA4_uc003wub.1_Missense_Mutation_p.Q69H|GATA4_uc003wuc.2_Missense_Mutation_p.Q275H	NM_002052	NP_002043	P43694	GATA4_HUMAN	GATA binding protein 4	275	GATA-type 2.				atrial septum primum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of gene-specific transcription|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|promoter binding|specific RNA polymerase II transcription factor activity|zinc ion binding			central_nervous_system(1)	1	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)										0.75	37.304756	38.21259	12	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11607661	11607661	6520	8	G	T	T	T	425	33	GATA4	2	2
EIF3H	8667	broad.mit.edu	37	8	117671153	117671153	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:117671153C>G	uc003yob.2	-	c.398G>C	c.(397-399)TGG>TCG	p.W133S	EIF3H_uc003yoa.2_Missense_Mutation_p.W119S|EIF3H_uc011lhz.1_Missense_Mutation_p.W119S	NM_003756	NP_003747	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3,	119	MPN.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)									241				0.5	251.082604	251.082604	80	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117671153	117671153	5209	8	C	G	G	G	273	21	EIF3H	3	3
DEPDC6	64798	broad.mit.edu	37	8	120977584	120977584	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:120977584G>T	uc003yow.3	+	c.538G>T	c.(538-540)GCC>TCC	p.A180S	DEPDC6_uc011lid.1_Missense_Mutation_p.A79S	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	180	DEP 2.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)											0.408163	57.032062	57.380257	20	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120977584	120977584	4622	8	G	T	T	T	546	42	DEPDC6	2	2
COL14A1	7373	broad.mit.edu	37	8	121239508	121239508	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:121239508C>G	uc003yox.2	+	c.2054C>G	c.(2053-2055)CCC>CGC	p.P685R	COL14A1_uc003yoy.2_Missense_Mutation_p.P363R	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	685	Fibronectin type-III 5.				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				0.464567	162.290533	162.431078	59	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121239508	121239508	3809	8	C	G	G	G	286	22	COL14A1	3	3
FAM91A1	157769	broad.mit.edu	37	8	124820580	124820580	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124820580G>A	uc003yqv.2	+	c.2101G>A	c.(2101-2103)GAA>AAA	p.E701K	FAM91A1_uc011lik.1_Missense_Mutation_p.E701K|FAM91A1_uc011lil.1_Missense_Mutation_p.E459K	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	701										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)											0.464286	161.189726	161.314081	52	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124820580	124820580	5887	8	G	A	A	A	533	41	FAM91A1	2	2
DLC1	10395	broad.mit.edu	37	8	13357088	13357088	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:13357088C>T	uc003wwm.2	-	c.493G>A	c.(493-495)GGA>AGA	p.G165R	DLC1_uc003wwn.2_Missense_Mutation_p.G165R|DLC1_uc011kxy.1_Missense_Mutation_p.G165R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	165					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7										739				0.73913	175.662329	179.244668	51	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13357088	13357088	4730	8	C	T	T	T	286	22	DLC1	2	2
LRRC6	23639	broad.mit.edu	37	8	133623603	133623603	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133623603C>A	uc003ytk.2	-	c.981G>T	c.(979-981)ATG>ATT	p.M327I	LRRC6_uc003ytl.2_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	327	CS.					cytoplasm				ovary(1)|kidney(1)	2	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)											0.431818	58.718213	58.896624	19	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133623603	133623603	9391	8	C	A	A	A	273	21	LRRC6	2	2
TG	7038	broad.mit.edu	37	8	133899126	133899126	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:133899126A>T	uc003ytw.2	+	c.1509A>T	c.(1507-1509)CAA>CAT	p.Q503H		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	503					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				0.440945	165.382115	165.767961	56	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133899126	133899126	16341	8	A	T	T	T	24	2	TG	3	3
FAM135B	51059	broad.mit.edu	37	8	139255306	139255306	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139255306G>T	uc003yuy.2	-	c.548C>A	c.(547-549)ACT>AAT	p.T183N	FAM135B_uc003yux.2_Missense_Mutation_p.T84N|FAM135B_uc003yuz.2_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	183										ovary(7)	7	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)											0.430769	87.591734	87.862958	28	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139255306	139255306	5646	8	G	T	T	T	468	36	FAM135B	2	2
COL22A1	169044	broad.mit.edu	37	8	139629199	139629199	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:139629199G>A	uc003yvd.2	-	c.3828C>T	c.(3826-3828)GGC>GGT	p.G1276G	COL22A1_uc011ljo.1_Silent_p.G556G	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1276	Pro-rich.|Gly-rich.|Collagen-like 12.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(10)|pancreas(1)	11	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)											0.357143	52.287984	53.29275	20	36	KEEP	---	---	---	---	capture		Silent	SNP	139629199	139629199	3819	8	G	A	A	A	431	34	COL22A1	2	2
PTK2	5747	broad.mit.edu	37	8	141696760	141696760	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:141696760C>A	uc003yvt.2	-	c.2599G>T	c.(2599-2601)GAC>TAC	p.D867Y	PTK2_uc011ljp.1_Missense_Mutation_p.D153Y|PTK2_uc003yvo.2_Missense_Mutation_p.D473Y|PTK2_uc011ljq.1_Missense_Mutation_p.D540Y|PTK2_uc003yvp.2_Missense_Mutation_p.D513Y|PTK2_uc003yvq.2_Intron|PTK2_uc003yvr.2_Missense_Mutation_p.D785Y|PTK2_uc003yvs.2_Missense_Mutation_p.D799Y|PTK2_uc003yvu.2_Missense_Mutation_p.D845Y|PTK2_uc003yvv.2_Missense_Mutation_p.D745Y|PTK2_uc011ljr.1_Missense_Mutation_p.D845Y	NM_005607	NP_005598	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform b	845	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)							917				0.457447	132.914747	133.063047	43	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141696760	141696760	13217	8	C	A	A	A	377	29	PTK2	2	2
SLC45A4	57210	broad.mit.edu	37	8	142221580	142221580	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:142221580C>G	uc003ywd.1	-	c.2358G>C	c.(2356-2358)TGG>TGC	p.W786C	SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_3'UTR	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	Error:Variant_position_missing_in_Q5BKX6_after_alignment					transmembrane transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)											0.555556	58.038582	58.145281	20	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142221580	142221580	15140	8	C	G	G	G	286	22	SLC45A4	3	3
BAI1	575	broad.mit.edu	37	8	143561119	143561119	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143561119G>T	uc003ywm.2	+	c.1792G>T	c.(1792-1794)GAG>TAG	p.E598*		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	598	Extracellular (Potential).				axonogenesis|cell adhesion|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)									829				0.368421	37.939626	38.517981	14	24	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	143561119	143561119	1319	8	G	T	T	T	429	33	BAI1	5	2
LYNX1	66004	broad.mit.edu	37	8	143846158	143846158	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143846158C>A	uc003yxb.2	-	c.261G>T	c.(259-261)CGG>CGT	p.R87R	LYNX1_uc003yxa.2_Silent_p.R53R	NM_023946	NP_076435	Q9BZG9	LYNX1_HUMAN	Ly-6 neurotoxin-like protein 1 isoform a	Error:Variant_position_missing_in_Q9BZG9_after_alignment						anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)													0.478261	33.122425	33.131942	11	12	KEEP	---	---	---	---	capture		Silent	SNP	143846158	143846158	9485	8	C	A	A	A	275	22	LYNX1	2	2
CYP11B2	1585	broad.mit.edu	37	8	143996514	143996514	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143996514C>A	uc003yxk.1	-	c.543G>T	c.(541-543)CGG>CGT	p.R181R		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	181					aldosterone biosynthetic process|oxidation-reduction process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|renal water homeostasis|sodium ion homeostasis|xenobiotic metabolic process	mitochondrial inner membrane	corticosterone 18-monooxygenase activity|electron carrier activity|heme binding|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									0.363636	21.893914	22.25381	8	14	KEEP	---	---	---	---	capture		Silent	SNP	143996514	143996514	4311	8	C	A	A	A	275	22	CYP11B2	2	2
EPPK1	83481	broad.mit.edu	37	8	144942206	144942206	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144942206T>C	uc003zaa.1	-	c.5216A>G	c.(5215-5217)TAC>TGC	p.Y1739C		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1739	Plectin 30.					cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)	1	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)											0.7	23.828682	24.186153	7	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144942206	144942206	5383	8	T	C	C	C	741	57	EPPK1	4	4
PLEC	5339	broad.mit.edu	37	8	144991466	144991466	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:144991466C>G	uc003zaf.1	-	c.12934G>C	c.(12934-12936)GAG>CAG	p.E4312Q	PLEC_uc003zab.1_Missense_Mutation_p.E4175Q|PLEC_uc003zac.1_Missense_Mutation_p.E4179Q|PLEC_uc003zad.2_Missense_Mutation_p.E4175Q|PLEC_uc003zae.1_Missense_Mutation_p.E4143Q|PLEC_uc003zag.1_Missense_Mutation_p.E4153Q|PLEC_uc003zah.2_Missense_Mutation_p.E4161Q|PLEC_uc003zaj.2_Missense_Mutation_p.E4202Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4312	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.472222	57.773083	57.797232	17	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144991466	144991466	12478	8	C	G	G	G	390	30	PLEC	3	3
RPL8	6132	broad.mit.edu	37	8	146017270	146017270	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:146017270C>A	uc003zeb.2	-	c.168G>T	c.(166-168)GCG>GCT	p.A56A	RPL8_uc003zdz.2_Non-coding_Transcript|RPL8_uc003zea.2_Intron|RPL8_uc003zec.2_Silent_p.A56A|RPL8_uc010mgc.2_Silent_p.A56A	NM_033301	NP_150644	P62917	RL8_HUMAN	ribosomal protein L8	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)										0.5	56.762953	56.762953	18	18	KEEP	---	---	---	---	capture		Silent	SNP	146017270	146017270	14081	8	C	A	A	A	340	27	RPL8	1	1
LPL	4023	broad.mit.edu	37	8	19809404	19809404	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:19809404C>A	uc003wzk.3	+	c.374C>A	c.(373-375)GCG>GAG	p.A125E		NM_000237	NP_000228	P06858	LIPL_HUMAN	lipoprotein lipase precursor	125					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)									0.831683	288.680837	299.353539	84	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19809404	19809404	9294	8	C	A	A	A	351	27	LPL	1	1
HR	55806	broad.mit.edu	37	8	21977319	21977319	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:21977319C>T	uc003xas.2	-	c.2931G>A	c.(2929-2931)CCG>CCA	p.P977P	HR_uc003xat.2_Silent_p.P977P	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	977	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)										0.923077	40.430468	42.058865	12	1	KEEP	---	---	---	---	capture		Silent	SNP	21977319	21977319	7639	8	C	T	T	T	288	23	HR	1	1
PPP3CC	5533	broad.mit.edu	37	8	22355572	22355572	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:22355572G>T	uc011kzi.1	+	c.431G>T	c.(430-432)CGG>CTG	p.R144L	PPP3CC_uc003xbr.1_Missense_Mutation_p.R144L|PPP3CC_uc003xbs.2_Missense_Mutation_p.R144L|PPP3CC_uc003xbt.2_Missense_Mutation_p.R144L	NM_005605	NP_005596	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma	144					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			ovary(1)	1		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)						169				0.769231	105.671837	108.265297	30	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22355572	22355572	12835	8	G	T	T	T	507	39	PPP3CC	1	1
PNMA2	10687	broad.mit.edu	37	8	26366261	26366261	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:26366261G>A	uc003xez.2	-	c.11C>T	c.(10-12)GCA>GTA	p.A4V		NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	paraneoplastic antigen MA2	4					apoptosis	nucleolus	protein binding				0		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)										0.852941	368.672038	384.937833	116	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26366261	26366261	12580	8	G	A	A	A	598	46	PNMA2	2	2
CSMD1	64478	broad.mit.edu	37	8	2855626	2855626	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2855626A>T	uc011kwk.1	-	c.8287T>A	c.(8287-8289)TTC>ATC	p.F2763I	CSMD1_uc011kwj.1_Missense_Mutation_p.F2092I|CSMD1_uc010lrg.2_Missense_Mutation_p.F773I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2763	Extracellular (Potential).|Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.834862	292.175322	303.767383	91	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2855626	2855626	4085	8	A	T	T	T	13	1	CSMD1	3	3
KIF13B	23303	broad.mit.edu	37	8	28981541	28981541	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:28981541C>A	uc003xhh.3	-	c.3352G>T	c.(3352-3354)GAT>TAT	p.D1118Y		NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1118	Potential.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)										0.435897	52.669647	52.809292	17	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28981541	28981541	8586	8	C	A	A	A	273	21	KIF13B	2	2
CSMD1	64478	broad.mit.edu	37	8	3045484	3045485	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3045484_3045485GG>TT	uc011kwk.1	-	c.5529_5530CC>AA	c.(5527-5532)ATCCAA>ATAAAA	p.Q1844K	CSMD1_uc011kwj.1_Missense_Mutation_p.Q1236K|CSMD1_uc003wqe.2_Missense_Mutation_p.Q1000K|CSMD1_uc010lrg.2_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1844	Extracellular (Potential).|CUB 11.			IQVISFATEQNWDSL -> DPSDQFCHGAELGLPF (in Ref. 1; AAK73475/AAG52948).		integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.904762	65.666488	68.428576	19	2	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	3045484	3045485	4085	8	GG	TT	TT	TT	611	47	CSMD1	2	2
CSMD1	64478	broad.mit.edu	37	8	3046426	3046426	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3046426C>A	uc011kwk.1	-	c.5509G>T	c.(5509-5511)GAG>TAG	p.E1837*	CSMD1_uc011kwj.1_Nonsense_Mutation_p.E1229*|CSMD1_uc003wqe.2_Nonsense_Mutation_p.E993*|CSMD1_uc010lrg.2_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1837	Extracellular (Potential).|CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.875	22.050624	23.127955	7	1	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	3046426	3046426	4085	8	C	A	A	A	390	30	CSMD1	5	2
CSMD1	64478	broad.mit.edu	37	8	3046430	3046430	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:3046430A>T	uc011kwk.1	-	c.5505T>A	c.(5503-5505)GTT>GTA	p.V1835V	CSMD1_uc011kwj.1_Silent_p.V1227V|CSMD1_uc003wqe.2_Silent_p.V991V|CSMD1_uc010lrg.2_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1835	Extracellular (Potential).|CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)										0.888889	26.808285	28.051887	8	1	KEEP	---	---	---	---	capture		Silent	SNP	3046430	3046430	4085	8	A	T	T	T	158	13	CSMD1	3	3
UNC5D	137970	broad.mit.edu	37	8	35541222	35541222	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:35541222T>C	uc003xjr.1	+	c.728T>C	c.(727-729)CTG>CCG	p.L243P	UNC5D_uc003xjs.1_Missense_Mutation_p.L238P|UNC5D_uc003xjt.1_Missense_Mutation_p.L12P	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	243	Extracellular (Potential).|Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			ovary(2)|pancreas(1)	3				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)										0.481481	33.76481	33.773206	13	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35541222	35541222	17553	8	T	C	C	C	715	55	UNC5D	4	4
TM2D2	83877	broad.mit.edu	37	8	38848892	38848892	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:38848892G>A	uc003xmk.2	-	c.604C>T	c.(604-606)CTG>TTG	p.L202L	TM2D2_uc003xml.2_Silent_p.L159L|TM2D2_uc003xmm.2_Silent_p.L159L|TM2D2_uc003xmn.2_Silent_p.L159L	NM_078473	NP_510882	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2 isoform a	202	Helical; (Potential).					integral to membrane					0		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)											0.826087	64.516783	66.815616	19	4	KEEP	---	---	---	---	capture		Silent	SNP	38848892	38848892	16494	8	G	A	A	A	438	34	TM2D2	2	2
ZMAT4	79698	broad.mit.edu	37	8	40532236	40532236	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:40532236C>A	uc003xnr.2	-	c.564G>T	c.(562-564)ATG>ATT	p.M188I	ZMAT4_uc003xns.2_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	188						nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)											0.345361	191.664188	195.761684	67	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40532236	40532236	18285	8	C	A	A	A	273	21	ZMAT4	2	2
POTEA	340441	broad.mit.edu	37	8	43211974	43211974	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:43211974A>G	uc003xpz.1	+	c.1433A>G	c.(1432-1434)CAC>CGC	p.H478R	POTEA_uc003xqa.1_Missense_Mutation_p.H432R	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A isoform 2	478	Potential.									ovary(1)	1														0.267606	48.590518	52.055557	19	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43211974	43211974	12690	8	A	G	G	G	78	6	POTEA	4	4
C8orf42	157695	broad.mit.edu	37	8	442737	442737	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:442737A>C	uc011kwg.1	-	c.220T>G	c.(220-222)TTA>GTA	p.L74V	C8orf42_uc003wpd.2_Missense_Mutation_p.L74V	NM_175075	NP_778250	Q86YL5	CH042_HUMAN	hypothetical protein LOC157695	74											0		Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255)										0.321429	21.061778	21.856665	9	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	442737	442737	2538	8	A	C	C	C	37	3	C8orf42	4	4
SNTG1	54212	broad.mit.edu	37	8	51415438	51415438	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:51415438C>A	uc010lxy.1	+	c.464C>A	c.(463-465)GCA>GAA	p.A155E	SNTG1_uc003xqs.1_Missense_Mutation_p.A155E|SNTG1_uc010lxz.1_Missense_Mutation_p.A155E|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	155					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)												0.432432	48.298049	48.44444	16	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51415438	51415438	15374	8	C	A	A	A	325	25	SNTG1	2	2
PXDNL	137902	broad.mit.edu	37	8	52323922	52323922	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:52323922C>A	uc003xqu.3	-	c.1950G>T	c.(1948-1950)CCG>CCT	p.P650P	PXDNL_uc003xqt.3_5'Flank	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	650					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)												0.366667	33.117878	33.586501	11	19	KEEP	---	---	---	---	capture		Silent	SNP	52323922	52323922	13306	8	C	A	A	A	340	27	PXDNL	1	1
RB1CC1	9821	broad.mit.edu	37	8	53573763	53573763	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:53573763C>A	uc003xre.3	-	c.1437G>T	c.(1435-1437)CTG>CTT	p.L479L	RB1CC1_uc003xrf.3_Silent_p.L479L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	479					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|large_intestine(1)	9		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GBM(180;1701 2102 13475 42023 52570)								0.35	79.261733	80.856022	28	52	KEEP	---	---	---	---	capture		Silent	SNP	53573763	53573763	13560	8	C	A	A	A	210	17	RB1CC1	2	2
PLAG1	5324	broad.mit.edu	37	8	57078967	57078967	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:57078967C>T	uc003xsq.3	-	c.1338G>A	c.(1336-1338)CAG>CAA	p.Q446Q	PLAG1_uc003xsr.3_Silent_p.Q446Q|PLAG1_uc010lyi.2_Silent_p.Q446Q|PLAG1_uc010lyj.2_Silent_p.Q364Q	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1 isoform b	446	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)							45				0.496124	207.996292	207.997987	64	65	KEEP	---	---	---	---	capture		Silent	SNP	57078967	57078967	12444	8	C	T	T	T	311	24	PLAG1	2	2
MCPH1	79648	broad.mit.edu	37	8	6302908	6302908	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:6302908G>T	uc003wqi.2	+	c.1665G>T	c.(1663-1665)GCG>GCT	p.A555A	MCPH1_uc003wqh.2_Silent_p.A555A|MCPH1_uc011kwl.1_Silent_p.A507A	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	555						microtubule organizing center				central_nervous_system(1)	1		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		Colon(95;1448 1467 8277 34473 35819)								0.875	171.706587	179.408064	49	7	KEEP	---	---	---	---	capture		Silent	SNP	6302908	6302908	9787	8	G	T	T	T	496	39	MCPH1	1	1
GGH	8836	broad.mit.edu	37	8	63948275	63948275	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:63948275T>C	uc003xuw.2	-	c.164A>G	c.(163-165)TAT>TGT	p.Y55C		NM_003878	NP_003869	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase precursor	55	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity				0	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)									0.373016	150.018785	151.829771	47	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63948275	63948275	6625	8	T	C	C	C	637	49	GGH	4	4
DNAJC5B	85479	broad.mit.edu	37	8	66963826	66963826	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:66963826C>A	uc003xvs.1	+	c.44C>A	c.(43-45)ACA>AAA	p.T15K	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	15					protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)											0.512821	195.70081	195.717466	60	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66963826	66963826	4834	8	C	A	A	A	221	17	DNAJC5B	2	2
ARFGEF1	10565	broad.mit.edu	37	8	68138279	68138279	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:68138279T>C	uc003xxo.1	-	c.4056A>G	c.(4054-4056)AAA>AAG	p.K1352K	ARFGEF1_uc003xxl.1_Silent_p.K806K|ARFGEF1_uc003xxn.1_Silent_p.K335K	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1352					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)							932				0.133333	14.258966	22.086668	8	52	KEEP	---	---	---	---	capture		Silent	SNP	68138279	68138279	863	8	T	C	C	C	673	52	ARFGEF1	4	4
PREX2	80243	broad.mit.edu	37	8	69046447	69046447	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:69046447G>T	uc003xxv.1	+	c.3920G>T	c.(3919-3921)TGG>TTG	p.W1307L		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1307					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			large_intestine(4)|pancreas(3)|lung(2)|skin(2)|ovary(1)|kidney(1)	13										1011				0.425373	170.252995	170.90372	57	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69046447	69046447	12920	8	G	T	T	T	611	47	PREX2	2	2
CRISPLD1	83690	broad.mit.edu	37	8	75929681	75929681	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:75929681A>G	uc003yan.2	+	c.1123A>G	c.(1123-1125)ATT>GTT	p.I375V	CRISPLD1_uc011lfk.1_Missense_Mutation_p.I187V|CRISPLD1_uc011lfl.1_Missense_Mutation_p.I187V	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	375	LCCL 1.					extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)											0.462185	183.219346	183.366885	55	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75929681	75929681	4021	8	A	G	G	G	52	4	CRISPLD1	4	4
ZFHX4	79776	broad.mit.edu	37	8	77619997	77619997	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77619997G>A	uc003yav.2	+	c.2729G>A	c.(2728-2730)AGG>AAG	p.R910K	ZFHX4_uc003yat.1_Missense_Mutation_p.R910K|ZFHX4_uc003yau.1_Missense_Mutation_p.R936K|ZFHX4_uc003yaw.1_Missense_Mutation_p.R910K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	910					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)											0.431579	133.863739	134.250746	41	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77619997	77619997	18223	8	G	A	A	A	455	35	ZFHX4	2	2
ZBTB10	65986	broad.mit.edu	37	8	81412348	81412348	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:81412348A>T	uc003ybx.3	+	c.1592A>T	c.(1591-1593)TAC>TTC	p.Y531F	ZBTB10_uc003ybv.3_Missense_Mutation_p.Y239F|ZBTB10_uc003ybw.3_Missense_Mutation_p.Y531F|ZBTB10_uc010lzt.2_Missense_Mutation_p.Y531F	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10 isoform	531					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)											0.557377	107.856368	108.031533	34	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81412348	81412348	18109	8	A	T	T	T	182	14	ZBTB10	3	3
PAG1	55824	broad.mit.edu	37	8	81888954	81888954	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:81888954G>A	uc003ybz.2	-	c.1124C>T	c.(1123-1125)CCA>CTA	p.P375L		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	375	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)											0.470085	169.611335	169.702665	55	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81888954	81888954	11804	8	G	A	A	A	611	47	PAG1	2	2
RALYL	138046	broad.mit.edu	37	8	85441629	85441629	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:85441629A>T	uc003yct.3	+	c.112A>T	c.(112-114)ATC>TTC	p.I38F	RALYL_uc003ycq.3_Missense_Mutation_p.I25F|RALYL_uc003ycr.3_Missense_Mutation_p.I25F|RALYL_uc003ycs.3_Missense_Mutation_p.I25F|RALYL_uc010lzy.2_Missense_Mutation_p.I25F	NM_001100391	NP_001093861	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 1	25	RRM.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1														0.352941	37.591331	38.239091	12	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85441629	85441629	13480	8	A	T	T	T	104	8	RALYL	3	3
RALYL	138046	broad.mit.edu	37	8	85799977	85799977	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:85799977A>T	uc003yct.3	+	c.863A>T	c.(862-864)GAG>GTG	p.E288V	RALYL_uc003ycq.3_Missense_Mutation_p.E275V|RALYL_uc003ycr.3_Missense_Mutation_p.E275V|RALYL_uc003ycs.3_Missense_Mutation_p.E275V|RALYL_uc010lzy.2_Missense_Mutation_p.E264V|RALYL_uc003ycu.3_Missense_Mutation_p.E202V|RALYL_uc003ycv.3_Intron	NM_001100391	NP_001093861	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 1	275							identical protein binding|nucleotide binding|RNA binding			ovary(1)	1														0.425287	330.680907	331.951708	111	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85799977	85799977	13480	8	A	T	T	T	143	11	RALYL	3	3
DCAF4L2	138009	broad.mit.edu	37	8	88885654	88885654	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:88885654G>A	uc003ydz.2	-	c.546C>T	c.(544-546)ATC>ATT	p.I182I		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	182										ovary(1)	1														0.392	142.850739	144.126129	49	76	KEEP	---	---	---	---	capture		Silent	SNP	88885654	88885654	4443	8	G	A	A	A	525	41	DCAF4L2	2	2
MMP16	4325	broad.mit.edu	37	8	89179959	89179959	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:89179959A>G	uc003yeb.3	-	c.648T>C	c.(646-648)ATT>ATC	p.I216I	MMP16_uc003yec.2_Silent_p.I216I	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	216	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														0.421053	68.583312	68.894638	24	33	KEEP	---	---	---	---	capture		Silent	SNP	89179959	89179959	10045	8	A	G	G	G	60	5	MMP16	4	4
NBN	4683	broad.mit.edu	37	8	90958406	90958406	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:90958406C>A	uc003yej.1	-	c.2032G>T	c.(2032-2034)GAT>TAT	p.D678Y	NBN_uc003yei.1_Missense_Mutation_p.D596Y|NBN_uc011lgb.1_Missense_Mutation_p.D678Y	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	678					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)	6			BRCA - Breast invasive adenocarcinoma(11;0.0344)							478				0.5	124.927159	124.927159	42	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90958406	90958406	10587	8	C	A	A	A	377	29	NBN	2	2
NBN	4683	broad.mit.edu	37	8	90993627	90993627	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:90993627A>G	uc003yej.1	-	c.296T>C	c.(295-297)TTT>TCT	p.F99S	NBN_uc003yei.1_Missense_Mutation_p.F17S|NBN_uc011lgb.1_Missense_Mutation_p.F99S	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	99					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)	6			BRCA - Breast invasive adenocarcinoma(11;0.0344)							478				0.193182	44.526009	52.255807	17	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90993627	90993627	10587	8	A	G	G	G	13	1	NBN	4	4
CDH17	1015	broad.mit.edu	37	8	95186160	95186160	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95186160C>A	uc003ygh.2	-	c.648G>T	c.(646-648)ATG>ATT	p.M216I	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.M216I	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	216	Extracellular (Potential).|Cadherin 2.					integral to membrane	calcium ion binding			ovary(5)	5	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)											0.306452	52.899327	54.971892	19	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95186160	95186160	3231	8	C	A	A	A	273	21	CDH17	2	2
ESRP1	54845	broad.mit.edu	37	8	95690554	95690554	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:95690554C>T	uc003ygq.3	+	c.1775C>T	c.(1774-1776)CCA>CTA	p.P592L	ESRP1_uc003ygr.3_Missense_Mutation_p.P588L|ESRP1_uc003ygs.3_Missense_Mutation_p.P588L|ESRP1_uc003ygt.3_Missense_Mutation_p.P592L|ESRP1_uc003ygu.3_Missense_Mutation_p.P588L|ESRP1_uc003ygv.2_Missense_Mutation_p.P432L|ESRP1_uc003ygw.2_Missense_Mutation_p.P432L	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	592					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4														0.39759	97.855195	98.617505	33	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95690554	95690554	5451	8	C	T	T	T	273	21	ESRP1	2	2
OSR2	116039	broad.mit.edu	37	8	99961477	99961477	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99961477G>T	uc011lgx.1	+	c.660G>T	c.(658-660)CAG>CAT	p.Q220H	OSR2_uc010mbn.2_Missense_Mutation_p.Q99H|OSR2_uc003yir.2_Missense_Mutation_p.Q99H|OSR2_uc003yiq.2_Missense_Mutation_p.Q99H	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	99					bone morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|mesonephros development|metanephros development|middle ear morphogenesis|odontogenesis|osteoblast proliferation|palate development|positive regulation of epithelial cell proliferation|positive regulation of gene expression	nucleus	sequence-specific DNA binding|transcription activator activity|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)											0.443662	180.794989	181.188974	63	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99961477	99961477	11705	8	G	T	T	T	451	35	OSR2	2	2
GABBR2	9568	broad.mit.edu	37	9	101056158	101056158	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101056158G>C	uc004ays.2	-	c.2569C>G	c.(2569-2571)CAC>GAC	p.H857D		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	857	Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)									0.884058	228.728241	238.748769	61	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101056158	101056158	6407	9	G	C	C	C	585	45	GABBR2	3	3
ANKS6	203286	broad.mit.edu	37	9	101544820	101544820	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101544820C>A	uc004ayu.2	-	c.1148G>T	c.(1147-1149)GGG>GTG	p.G383V	ANKS6_uc004ayt.2_Missense_Mutation_p.G82V|ANKS6_uc004ayw.1_5'Flank|ANKS6_uc004ayx.1_Non-coding_Transcript|ANKS6_uc004ayy.1_Non-coding_Transcript	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	383	ANK 10.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)												0.490566	76.130597	76.134403	26	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101544820	101544820	700	9	C	A	A	A	286	22	ANKS6	2	2
INVS	27130	broad.mit.edu	37	9	102888679	102888679	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:102888679A>G	uc004bap.1	+	c.121A>G	c.(121-123)AAA>GAA	p.K41E	INVS_uc010mta.1_5'UTR|INVS_uc011lve.1_5'UTR|INVS_uc004bao.1_Missense_Mutation_p.K41E|INVS_uc004baq.1_5'UTR|INVS_uc004bar.1_5'UTR|INVS_uc010mtb.1_5'UTR	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	inversin isoform a	41	ANK 1.				negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.056)												0.531915	90.383197	90.425409	25	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102888679	102888679	8088	9	A	G	G	G	169	13	INVS	4	4
BAAT	570	broad.mit.edu	37	9	104125270	104125270	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104125270A>G	uc010mtd.2	-	c.697T>C	c.(697-699)TCT>CCT	p.S233P	BAAT_uc004bbd.3_Missense_Mutation_p.S233P	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN	bile acid Coenzyme A: amino acid	233					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)									0.145985	31.799907	48.742774	20	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104125270	104125270	1301	9	A	G	G	G	143	11	BAAT	4	4
DMRT2	10655	broad.mit.edu	37	9	1056572	1056572	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:1056572G>A	uc003zha.2	+	c.985G>A	c.(985-987)GCC>ACC	p.A329T	DMRT2_uc003zgx.3_Missense_Mutation_p.A96T|DMRT2_uc010mgz.2_Missense_Mutation_p.A96T|DMRT2_uc003zgy.3_Missense_Mutation_p.A173T|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.A329T	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	329				A -> G (in Ref. 2; AAF86292/AAF86294).	male gonad development|regulation of transcription, DNA-dependent|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)										0.356568	364.690078	371.440482	133	240	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1056572	1056572	4766	9	G	A	A	A	546	42	DMRT2	2	2
OR13C2	392376	broad.mit.edu	37	9	107367580	107367580	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107367580G>T	uc011lvq.1	-	c.329C>A	c.(328-330)ACA>AAA	p.T110K		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.865285	564.51465	589.52628	167	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107367580	107367580	11340	9	G	T	T	T	624	48	OR13C2	2	2
ABCA1	19	broad.mit.edu	37	9	107594092	107594092	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107594092T>A	uc004bcl.2	-	c.1526A>T	c.(1525-1527)AAG>ATG	p.K509M		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	509	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol binding|cholesterol transporter activity|phospholipid binding|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|ovary(4)|central_nervous_system(1)|pancreas(1)	10				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)									0.368132	186.764422	189.551028	67	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107594092	107594092	29	9	T	A	A	A	728	56	ABCA1	3	3
ZNF462	58499	broad.mit.edu	37	9	109688018	109688018	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:109688018A>T	uc004bcz.2	+	c.1825A>T	c.(1825-1827)ACC>TCC	p.T609S	ZNF462_uc010mto.2_Missense_Mutation_p.T457S|ZNF462_uc004bda.2_Missense_Mutation_p.T457S	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	609	C2H2-type 6.				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5														0.907631	1567.918179	1651.182464	452	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109688018	109688018	18519	9	A	T	T	T	78	6	ZNF462	3	3
RAD23B	5887	broad.mit.edu	37	9	110087176	110087176	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:110087176G>T	uc004bde.2	+	c.1007G>T	c.(1006-1008)GGT>GTT	p.G336V	RAD23B_uc011lwa.1_Missense_Mutation_p.G336V|RAD23B_uc011lwb.1_Missense_Mutation_p.G315V	NM_002874	NP_002865	P54727	RD23B_HUMAN	UV excision repair protein RAD23 homolog B	336	Poly-Gly.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			ovary(1)	1														0.547619	146.051196	146.216346	46	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110087176	110087176	13443	9	G	T	T	T	572	44	RAD23B	2	2
SVEP1	79987	broad.mit.edu	37	9	113168921	113168921	+	Silent	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113168921T>G	uc010mtz.2	-	c.8959A>C	c.(8959-8961)AGA>CGA	p.R2987R	SVEP1_uc010mty.2_Silent_p.R913R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2987	Sushi 26.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.517241	83.039955	83.054544	30	28	KEEP	---	---	---	---	capture		Silent	SNP	113168921	113168921	15940	9	T	G	G	G	726	56	SVEP1	4	4
SVEP1	79987	broad.mit.edu	37	9	113312282	113312282	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113312282G>T	uc010mtz.2	-	c.634C>A	c.(634-636)CGA>AGA	p.R212R	SVEP1_uc010mua.1_Silent_p.R212R|SVEP1_uc004beu.2_Silent_p.R212R|SVEP1_uc004bev.2_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	212	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.439189	211.780665	212.252237	65	83	KEEP	---	---	---	---	capture		Silent	SNP	113312282	113312282	15940	9	G	T	T	T	493	38	SVEP1	1	1
SVEP1	79987	broad.mit.edu	37	9	113341784	113341784	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113341784G>T	uc010mtz.2	-	c.40C>A	c.(40-42)CTC>ATC	p.L14I	SVEP1_uc010mua.1_Missense_Mutation_p.L14I|SVEP1_uc004beu.2_Missense_Mutation_p.L14I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	14					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.666667	10.489776	10.634611	4	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113341784	113341784	15940	9	G	T	T	T	442	34	SVEP1	2	2
KIF12	113220	broad.mit.edu	37	9	116854636	116854636	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116854636G>A	uc004bif.2	-	c.1379C>T	c.(1378-1380)CCG>CTG	p.P460L	KIF12_uc004big.2_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	kinesin family member 12	593	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0														0.525641	137.38132	137.426182	41	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116854636	116854636	8584	9	G	A	A	A	507	39	KIF12	1	1
FOXD4	2298	broad.mit.edu	37	9	116941	116941	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:116941C>T	uc003zfz.2	-	c.1179G>A	c.(1177-1179)TCG>TCA	p.S393S		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	393					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of gene-specific transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)										0.0875	0.783548	14.54576	7	73	KEEP	---	---	---	---	capture		Silent	SNP	116941	116941	6241	9	C	T	T	T	288	23	FOXD4	1	1
AKNA	80709	broad.mit.edu	37	9	117129925	117129925	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:117129925G>A	uc004biq.3	-	c.1626C>T	c.(1624-1626)CCC>CCT	p.P542P	AKNA_uc004bio.3_Silent_p.P2P|AKNA_uc004bip.3_Silent_p.P461P|AKNA_uc004bir.3_Silent_p.P542P|AKNA_uc004bis.3_Silent_p.P542P|AKNA_uc010mve.2_Silent_p.P423P|AKNA_uc004biu.1_Silent_p.P283P|AKNA_uc004biv.1_Silent_p.P542P	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6														0.486486	163.633359	163.651358	54	57	KEEP	---	---	---	---	capture		Silent	SNP	117129925	117129925	466	9	G	A	A	A	600	47	AKNA	2	2
ASTN2	23245	broad.mit.edu	37	9	119737595	119737595	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119737595C>A	uc004bjs.1	-	c.1781G>T	c.(1780-1782)TGG>TTG	p.W594L	ASTN2_uc004bjr.1_Missense_Mutation_p.W590L|ASTN2_uc004bjt.1_Missense_Mutation_p.W543L	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	594	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.431818	171.842323	172.379318	57	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119737595	119737595	1084	9	C	A	A	A	273	21	ASTN2	2	2
FBXW2	26190	broad.mit.edu	37	9	123550109	123550109	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:123550109G>C	uc004bkn.2	-	c.524C>G	c.(523-525)TCA>TGA	p.S175*	FBXW2_uc011lyc.1_Nonsense_Mutation_p.S14*|FBXW2_uc004bkl.1_Nonsense_Mutation_p.S143*|FBXW2_uc004bkm.1_Nonsense_Mutation_p.S143*|FBXW2_uc010mvj.1_Nonsense_Mutation_p.S143*	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	143					proteolysis		protein binding|ubiquitin-protein ligase activity			urinary_tract(1)|ovary(1)|pancreas(1)|skin(1)	4														0.466102	186.318345	186.436135	55	63	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	123550109	123550109	6003	9	G	C	C	C	585	45	FBXW2	5	3
DAB2IP	153090	broad.mit.edu	37	9	124528955	124528955	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:124528955C>T	uc004bln.2	+	c.1559C>T	c.(1558-1560)GCC>GTC	p.A520V	DAB2IP_uc004blo.2_Missense_Mutation_p.A424V|DAB2IP_uc004blp.2_5'Flank	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	548	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of Ras protein signal transduction|positive regulation of apoptosis|positive regulation of gene-specific transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2														0.512397	188.475035	188.492486	62	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124528955	124528955	4385	9	C	T	T	T	338	26	DAB2IP	2	2
LHX6	26468	broad.mit.edu	37	9	124971944	124971944	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:124971944G>T	uc004blx.3	-	c.1107C>A	c.(1105-1107)CCC>CCA	p.P369P	LHX6_uc010mvw.2_Silent_p.P340P|LHX6_uc004bly.3_Intron	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	LIM homeobox protein 6 isoform 1	340					cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding				0														0.75	38.400987	39.307582	12	4	KEEP	---	---	---	---	capture		Silent	SNP	124971944	124971944	9101	9	G	T	T	T	496	39	LHX6	1	1
MRRF	92399	broad.mit.edu	37	9	125042807	125042807	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125042807A>T	uc004bmb.2	+	c.270A>T	c.(268-270)GAA>GAT	p.E90D	MRRF_uc004bmc.2_Missense_Mutation_p.E90D|MRRF_uc011lyq.1_Missense_Mutation_p.E111D|MRRF_uc010mvz.1_Non-coding_Transcript|MRRF_uc010mwa.2_Missense_Mutation_p.E90D|MRRF_uc011lyr.1_Intron|MRRF_uc004bmd.2_Missense_Mutation_p.E90D|MRRF_uc004bme.2_Non-coding_Transcript	NM_138777	NP_620132	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor isoform	90					regulation of transcription, DNA-dependent|ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			ovary(2)	2														0.435897	105.039374	105.318645	34	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125042807	125042807	10243	9	A	T	T	T	37	3	MRRF	3	3
PTGS1	5742	broad.mit.edu	37	9	125148998	125148998	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125148998A>G	uc004bmg.1	+	c.1283A>G	c.(1282-1284)CAG>CGG	p.Q428R	PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Missense_Mutation_p.Q319R|PTGS1_uc011lyt.1_Missense_Mutation_p.Q319R	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	428					cyclooxygenase pathway|hormone biosynthetic process|oxidation-reduction process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)	1					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)									0.478873	110.336036	110.364011	34	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125148998	125148998	13210	9	A	G	G	G	91	7	PTGS1	4	4
PTGS1	5742	broad.mit.edu	37	9	125154487	125154487	+	Silent	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125154487A>G	uc004bmg.1	+	c.1464A>G	c.(1462-1464)GCA>GCG	p.A488A	PTGS1_uc011lys.1_Silent_p.A426A|PTGS1_uc010mwb.1_Silent_p.A342A|PTGS1_uc004bmf.1_Silent_p.A451A|PTGS1_uc004bmh.1_Silent_p.A379A|PTGS1_uc011lyt.1_Silent_p.A379A	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	488					cyclooxygenase pathway|hormone biosynthetic process|oxidation-reduction process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)	1					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)									0.641026	71.579155	72.263999	25	14	KEEP	---	---	---	---	capture		Silent	SNP	125154487	125154487	13210	9	A	G	G	G	80	7	PTGS1	4	4
OR1N2	138882	broad.mit.edu	37	9	125316168	125316168	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125316168G>T	uc011lyx.1	+	c.720G>T	c.(718-720)TGG>TGT	p.W240C		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	240	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.427481	336.967196	338.166398	112	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125316168	125316168	11376	9	G	T	T	T	559	43	OR1N2	2	2
RC3H2	54542	broad.mit.edu	37	9	125659558	125659558	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125659558C>A	uc010mwc.1	-	c.231G>T	c.(229-231)CAG>CAT	p.Q77H	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.Q77H|RC3H2_uc004bne.3_Missense_Mutation_p.Q77H|RC3H2_uc011lzg.1_Missense_Mutation_p.Q77H|RC3H2_uc004bng.1_Missense_Mutation_p.Q77H	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	77						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(1)	1														0.552632	69.079763	69.171631	21	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125659558	125659558	13636	9	C	A	A	A	311	24	RC3H2	2	2
ZBTB26	57684	broad.mit.edu	37	9	125682054	125682054	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125682054C>A	uc004bnj.2	-	c.160G>T	c.(160-162)GGT>TGT	p.G54C	ZBTB26_uc004bnk.2_Missense_Mutation_p.G54C	NM_020924	NP_065975	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	54	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.512821	60.790261	60.795548	20	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125682054	125682054	18119	9	C	A	A	A	312	24	ZBTB26	2	2
OLFML2A	169611	broad.mit.edu	37	9	127572311	127572311	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:127572311G>A	uc004bov.2	+	c.1579G>A	c.(1579-1581)GAG>AAG	p.E527K	OLFML2A_uc004bow.2_Missense_Mutation_p.E313K	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A precursor	527	Olfactomedin-like.										0														0.608696	43.652437	43.89008	14	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127572311	127572311	11262	9	G	A	A	A	481	37	OLFML2A	1	1
LMX1B	4010	broad.mit.edu	37	9	129458719	129458719	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:129458719T>G	uc011maa.1	+	c.1141T>G	c.(1141-1143)TTC>GTC	p.F381V	LMX1B_uc004bqi.2_Missense_Mutation_p.F370V|LMX1B_uc004bqj.2_Missense_Mutation_p.F377V	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	377					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding				0						Pancreas(110;1796 2278 18357 20466)								0.070312	-6.326407	18.065298	9	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129458719	129458719	9191	9	T	G	G	G	728	56	LMX1B	4	4
DNM1	1759	broad.mit.edu	37	9	130982360	130982360	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130982360G>T	uc011mau.1	+	c.683G>T	c.(682-684)CGC>CTC	p.R228L	DNM1_uc010mxr.2_Missense_Mutation_p.R228L|DNM1_uc011mat.1_Missense_Mutation_p.R228L	NM_004408	NP_004399	Q05193	DYN1_HUMAN	dynamin 1 isoform 1	228					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity|motor activity			ovary(2)	2						GBM(113;146 1575 2722 28670 29921)								0.612903	62.331879	62.679226	19	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130982360	130982360	4853	9	G	T	T	T	494	38	DNM1	1	1
SLC27A4	10999	broad.mit.edu	37	9	131105559	131105559	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131105559A>T	uc004but.2	+	c.148A>T	c.(148-150)AGG>TGG	p.R50W	SLC27A4_uc004buu.2_Missense_Mutation_p.Q77L	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	50					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0						Pancreas(107;1554 2241 10946 12953)								0.25	13.365947	14.501733	5	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131105559	131105559	15025	9	A	T	T	T	88	7	SLC27A4	3	3
MPDZ	8777	broad.mit.edu	37	9	13133860	13133860	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:13133860C>A	uc010mhy.2	-	c.4427G>T	c.(4426-4428)AGT>ATT	p.S1476I	MPDZ_uc003zky.3_Missense_Mutation_p.S38I|MPDZ_uc010mib.2_Missense_Mutation_p.S181I|MPDZ_uc010mhx.2_Missense_Mutation_p.S298I|MPDZ_uc011lmm.1_Missense_Mutation_p.S335I|MPDZ_uc003zkz.3_Missense_Mutation_p.S169I|MPDZ_uc010mhz.2_Missense_Mutation_p.S1443I|MPDZ_uc011lmn.1_Missense_Mutation_p.S1443I|MPDZ_uc003zlb.3_Missense_Mutation_p.S1476I|MPDZ_uc010mia.1_Missense_Mutation_p.S1476I	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1476					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)										0.333333	248.46112	254.870694	87	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13133860	13133860	10114	9	C	A	A	A	260	20	MPDZ	2	2
CCBL1	883	broad.mit.edu	37	9	131596097	131596097	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131596097C>A	uc011mbl.1	-	c.1413G>T	c.(1411-1413)GTG>GTT	p.V471V	CCBL1_uc004bwf.2_Silent_p.V411V|CCBL1_uc004bwg.2_Non-coding_Transcript|CCBL1_uc004bwh.2_Silent_p.V377V|CCBL1_uc010myn.2_Silent_p.V377V|CCBL1_uc004bwj.2_Silent_p.V327V|CCBL1_uc004bwi.2_Non-coding_Transcript|CCBL1_uc010myo.2_Silent_p.V334V	NM_004059	NP_004050	Q16773	KAT1_HUMAN	kynurenine aminotransferase I isoform a	377					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)									0.52	39.6746	39.683244	13	12	KEEP	---	---	---	---	capture		Silent	SNP	131596097	131596097	2852	9	C	A	A	A	262	21	CCBL1	2	2
ABL1	25	broad.mit.edu	37	9	133738224	133738224	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:133738224G>T	uc004bzv.2	+	c.681G>T	c.(679-681)GGG>GGT	p.G227G	ABL1_uc004bzw.2_Silent_p.G208G	NM_007313	NP_009297	P00519	ABL1_HUMAN	c-abl oncogene 1, receptor tyrosine kinase	208	SH2.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			haematopoietic_and_lymphoid_tissue(718)|lung(3)|central_nervous_system(1)|skin(1)	723		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)					381				0.384615	90.053916	91.096279	35	56	KEEP	---	---	---	---	capture		Silent	SNP	133738224	133738224	93	9	G	T	T	T	535	42	ABL1	2	2
LAMC3	10319	broad.mit.edu	37	9	133928337	133928337	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:133928337G>T	uc004caa.1	+	c.1924G>T	c.(1924-1926)GGC>TGC	p.G642C		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	642	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)								OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.6	6.915193	6.957126	3	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133928337	133928337	8939	9	G	T	T	T	507	39	LAMC3	1	1
SETX	23064	broad.mit.edu	37	9	135206758	135206758	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135206758C>A	uc004cbk.2	-	c.916G>T	c.(916-918)GGT>TGT	p.G306C	SETX_uc004cbj.2_5'Flank|SETX_uc010mzt.2_5'Flank	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	306					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA binding|DNA helicase activity			ovary(2)	2		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)										0.416667	141.525812	142.253491	50	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135206758	135206758	14630	9	C	A	A	A	286	22	SETX	2	2
GFI1B	8328	broad.mit.edu	37	9	135862731	135862731	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:135862731C>A	uc004ccg.2	+	c.163C>A	c.(163-165)CTG>ATG	p.L55M	GFI1B_uc010mzy.2_Missense_Mutation_p.L55M	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	55					cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription, DNA-dependent	nucleus	DNA binding|protein binding|specific RNA polymerase II transcription factor activity|zinc ion binding			large_intestine(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)										0.584906	98.529846	98.862667	31	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135862731	135862731	6608	9	C	A	A	A	311	24	GFI1B	2	2
SARDH	1757	broad.mit.edu	37	9	136573493	136573493	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:136573493C>A	uc004cep.3	-	c.1386G>T	c.(1384-1386)GAG>GAT	p.E462D	SARDH_uc004ceo.2_Missense_Mutation_p.E462D|SARDH_uc011mdn.1_Missense_Mutation_p.E462D|SARDH_uc011mdo.1_Missense_Mutation_p.E294D	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	462					glycine catabolic process|oxidation-reduction process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)										1	107.828367	107.828367	29	0	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136573493	136573493	14322	9	C	A	A	A	259	20	SARDH	2	2
LCN1	3933	broad.mit.edu	37	9	138416983	138416983	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:138416983T>C	uc004cfz.1	+	c.511T>C	c.(511-513)TGC>CGC	p.C171R	LCN1_uc004cga.1_Missense_Mutation_p.C171R	NM_002297	NP_002288	P31025	LCN1_HUMAN	lipocalin 1 precursor	171					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)										0.461538	156.113924	156.266605	54	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138416983	138416983	9004	9	T	C	C	C	715	55	LCN1	4	4
KCNT1	57582	broad.mit.edu	37	9	138669216	138669216	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:138669216G>A	uc011mdq.1	+	c.2382G>A	c.(2380-2382)AAG>AAA	p.K794K	KCNT1_uc011mdr.1_Silent_p.K621K|KCNT1_uc010nbf.2_Silent_p.K749K|KCNT1_uc004cgo.1_Silent_p.K543K	NM_020822	NP_065873	B9EGP2	B9EGP2_HUMAN	potassium channel, subfamily T, member 1	794						membrane	binding|calcium-activated potassium channel activity|catalytic activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)										0.475248	153.299579	153.352708	48	53	KEEP	---	---	---	---	capture		Silent	SNP	138669216	138669216	8396	9	G	A	A	A	451	35	KCNT1	2	2
UBAC1	10422	broad.mit.edu	37	9	138838168	138838168	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:138838168T>A	uc004cgt.2	-	c.491A>T	c.(490-492)CAG>CTG	p.Q164L	UBAC1_uc004cgs.1_Missense_Mutation_p.Q164L|UBAC1_uc004cgu.2_Non-coding_Transcript	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	164						Golgi apparatus|plasma membrane	protein binding				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		NSCLC(78;973 1398 27381 29552 42415)								0.941176	174.06003	180.938157	48	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138838168	138838168	17391	9	T	A	A	A	715	55	UBAC1	3	3
EHMT1	79813	broad.mit.edu	37	9	140637941	140637941	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:140637941G>T	uc011mfc.1	+	c.942G>T	c.(940-942)GAG>GAT	p.E314D	EHMT1_uc004coa.2_Missense_Mutation_p.E314D|EHMT1_uc004cob.1_Missense_Mutation_p.E283D|EHMT1_uc010ncn.1_Non-coding_Transcript	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	314					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)										0.54023	144.728464	144.85074	47	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140637941	140637941	5172	9	G	T	T	T	425	33	EHMT1	2	2
FREM1	158326	broad.mit.edu	37	9	14775956	14775956	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:14775956A>C	uc003zlm.2	-	c.4688T>G	c.(4687-4689)CTT>CGT	p.L1563R	FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Missense_Mutation_p.L99R	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	1563	CSPG 11.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)										0.081717	-8.358068	120.372516	59	663	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14775956	14775956	6291	9	A	C	C	C	39	3	FREM1	4	4
FREM1	158326	broad.mit.edu	37	9	14859441	14859441	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:14859441C>A	uc003zlm.2	-	c.371G>T	c.(370-372)TGG>TTG	p.W124L	FREM1_uc010mic.2_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	124					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)										0.374704	928.107651	939.788812	317	529	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14859441	14859441	6291	9	C	A	A	A	273	21	FREM1	2	2
BNC2	54796	broad.mit.edu	37	9	16436590	16436590	+	Silent	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:16436590A>T	uc003zml.2	-	c.1602T>A	c.(1600-1602)CCT>CCA	p.P534P	BNC2_uc011lmw.1_Silent_p.P439P|BNC2_uc003zmm.2_Silent_p.P492P|BNC2_uc003zmq.1_Silent_p.P548P|BNC2_uc003zmr.1_Silent_p.P571P|BNC2_uc003zmp.1_Silent_p.P562P|BNC2_uc010mij.1_Silent_p.P456P|BNC2_uc011lmv.1_Silent_p.P360P|BNC2_uc003zmo.1_Silent_p.P456P|BNC2_uc003zmj.2_Silent_p.P299P|BNC2_uc003zmk.2_Non-coding_Transcript|BNC2_uc003zmi.2_Silent_p.P299P|BNC2_uc003zmn.1_Silent_p.P299P	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	534	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)										0.177215	87.296461	110.491295	42	195	KEEP	---	---	---	---	capture		Silent	SNP	16436590	16436590	1500	9	A	T	T	T	80	7	BNC2	3	3
SH3GL2	6456	broad.mit.edu	37	9	17791292	17791292	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:17791292G>T	uc003zna.2	+	c.688G>T	c.(688-690)GTC>TTC	p.V230F	SH3GL2_uc011lmy.1_Missense_Mutation_p.V183F	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	230	BAR.|Potential.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding				0				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)										0.269311	345.825248	368.790007	129	350	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17791292	17791292	14743	9	G	T	T	T	468	36	SH3GL2	2	2
ADAMTSL1	92949	broad.mit.edu	37	9	18706942	18706942	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:18706942A>G	uc003zne.3	+	c.1772A>G	c.(1771-1773)AAC>AGC	p.N591S		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	591						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|lung(1)	4				GBM - Glioblastoma multiforme(50;1.29e-17)										0.186722	99.264434	121.406122	45	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18706942	18706942	275	9	A	G	G	G	26	2	ADAMTSL1	4	4
ADAMTSL1	92949	broad.mit.edu	37	9	18776831	18776831	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:18776831G>T	uc003zne.3	+	c.2604G>T	c.(2602-2604)AAG>AAT	p.K868N		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	868	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.K868N(1)		ovary(3)|lung(1)	4				GBM - Glioblastoma multiforme(50;1.29e-17)										0.608696	43.052504	43.289946	14	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18776831	18776831	275	9	G	T	T	T	451	35	ADAMTSL1	2	2
HAUS6	54801	broad.mit.edu	37	9	19080548	19080548	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:19080548C>A	uc003znk.2	-	c.993G>T	c.(991-993)ACG>ACT	p.T331T	HAUS6_uc011lmz.1_Silent_p.T86T|HAUS6_uc003znl.1_Silent_p.T195T|HAUS6_uc003znm.1_Silent_p.T86T	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	331					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2														0.356808	234.188279	238.014409	76	137	KEEP	---	---	---	---	capture		Silent	SNP	19080548	19080548	7252	9	C	A	A	A	288	23	HAUS6	1	1
ACER2	340485	broad.mit.edu	37	9	19424711	19424711	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:19424711C>A	uc003zny.1	+	c.237C>A	c.(235-237)GTC>GTA	p.V79V	ACER2_uc003znx.1_Non-coding_Transcript|ACER2_uc003znz.1_Silent_p.V30V	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	79	Helical; (Potential).				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity				0														0.318102	475.284496	492.014335	181	388	KEEP	---	---	---	---	capture		Silent	SNP	19424711	19424711	140	9	C	A	A	A	405	32	ACER2	2	2
SMARCA2	6595	broad.mit.edu	37	9	2086930	2086930	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:2086930G>C	uc003zhc.2	+	c.2628G>C	c.(2626-2628)AGG>AGC	p.R876S	SMARCA2_uc003zhd.2_Missense_Mutation_p.R876S|SMARCA2_uc010mha.2_Intron	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	876	Helicase ATP-binding.				chromatin remodeling|negative regulation of gene-specific transcription from RNA polymerase II promoter|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein binding|transcription activator activity|transcription coactivator activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)										0.163415	148.465858	192.596044	67	343	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2086930	2086930	15267	9	G	C	C	C	529	41	SMARCA2	3	3
KIAA1797	54914	broad.mit.edu	37	9	20912888	20912888	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:20912888G>A	uc003zog.1	+	c.2742G>A	c.(2740-2742)TTG>TTA	p.L914L	KIAA1797_uc003zoh.1_Silent_p.L350L	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	914						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)										0.436242	376.998249	378.055271	130	168	KEEP	---	---	---	---	capture		Silent	SNP	20912888	20912888	8569	9	G	A	A	A	594	46	KIAA1797	2	2
ELAVL2	1993	broad.mit.edu	37	9	23762137	23762137	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:23762137C>A	uc003zpu.2	-	c.96G>T	c.(94-96)GGG>GGT	p.G32G	ELAVL2_uc003zps.2_Silent_p.G32G|ELAVL2_uc003zpt.2_Silent_p.G32G|ELAVL2_uc003zpv.2_Silent_p.G32G|ELAVL2_uc003zpw.2_Silent_p.G32G	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	32					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)										0.329749	486.451302	500.8186	184	374	KEEP	---	---	---	---	capture		Silent	SNP	23762137	23762137	5241	9	C	A	A	A	379	30	ELAVL2	2	2
IFT74	80173	broad.mit.edu	37	9	26990194	26990194	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:26990194G>T	uc010mja.2	+	c.587_splice	c.e8+1	p.A196_splice	IFT74_uc010mjb.2_Splice_Site_SNP_p.A196_splice|IFT74_uc003zqf.3_Splice_Site_SNP_p.A196_splice|IFT74_uc003zqg.3_Splice_Site_SNP_p.A196_splice	NM_001099223	NP_001092693			coiled-coil domain containing 2 isoform a							cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum					0		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)										0.276596	74.31289	78.53331	26	68	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	26990194	26990194	7864	9	G	T	T	T	520	40	IFT74	5	1
IFT74	80173	broad.mit.edu	37	9	27055706	27055706	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:27055706C>A	uc010mja.2	+	c.1433C>A	c.(1432-1434)ACA>AAA	p.T478K	IFT74_uc010mjb.2_Missense_Mutation_p.T478K|IFT74_uc003zqg.3_Missense_Mutation_p.T478K	NM_001099223	NP_001092693	Q96LB3	IFT74_HUMAN	coiled-coil domain containing 2 isoform a	478	Potential.					cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum					0		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)										0.075269	-1.751169	15.45921	7	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27055706	27055706	7864	9	C	A	A	A	221	17	IFT74	2	2
MOBKL2B	79817	broad.mit.edu	37	9	27455253	27455253	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:27455253C>A	uc003zqn.2	-	c.296G>T	c.(295-297)CGG>CTG	p.R99L		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	MOB1, Mps One Binder kinase activator-like 2B	99							metal ion binding|protein binding			ovary(1)|pleura(1)	2		all_neural(11;9.12e-11)		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)										0.195556	101.416247	120.827226	44	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27455253	27455253	10076	9	C	A	A	A	299	23	MOBKL2B	1	1
DDX58	23586	broad.mit.edu	37	9	32481382	32481382	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32481382T>A	uc003zra.2	-	c.1594A>T	c.(1594-1596)AGC>TGC	p.S532C	DDX58_uc010mjj.2_Non-coding_Transcript|DDX58_uc010mjk.1_Missense_Mutation_p.S487C|DDX58_uc011lnr.1_Missense_Mutation_p.S329C|DDX58_uc010mji.2_Missense_Mutation_p.S461C	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	532					innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|response to virus	cytosol	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)										0.734463	400.96912	409.745055	130	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32481382	32481382	4546	9	T	A	A	A	702	54	DDX58	3	3
TAF1L	138474	broad.mit.edu	37	9	32631925	32631925	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32631925G>T	uc003zrg.1	-	c.3653C>A	c.(3652-3654)ACT>AAT	p.T1218N		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1218					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				0.209607	218.84619	254.59528	96	362	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32631925	32631925	16044	9	G	T	T	T	468	36	TAF1L	2	2
KIF24	347240	broad.mit.edu	37	9	34310921	34310921	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34310921G>T	uc003zua.3	-	c.424C>A	c.(424-426)CCA>ACA	p.P142T	KIF24_uc010mkb.2_Missense_Mutation_p.P173T	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	kinesin family member 24	142					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0			LUSC - Lung squamous cell carcinoma(29;0.0107)											0.692547	762.490384	773.189861	223	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34310921	34310921	8603	9	G	T	T	T	572	44	KIF24	2	2
CNTFR	1271	broad.mit.edu	37	9	34556335	34556335	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34556335G>A	uc003zup.1	-	c.686C>T	c.(685-687)CCC>CTC	p.P229L	CNTFR_uc003zuq.1_Missense_Mutation_p.P229L	NM_147164	NP_671693	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	229	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			ovary(3)|central_nervous_system(1)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)										0.729167	108.713559	110.976977	35	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34556335	34556335	3776	9	G	A	A	A	559	43	CNTFR	2	2
KIAA1045	23349	broad.mit.edu	37	9	34971409	34971409	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34971409T>A	uc003zvq.2	+	c.114T>A	c.(112-114)GGT>GGA	p.G38G	KIAA1045_uc003zvr.2_Silent_p.G38G	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	38							calcium ion binding|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)											0.424242	163.702921	164.356538	56	76	KEEP	---	---	---	---	capture		Silent	SNP	34971409	34971409	8514	9	T	A	A	A	756	59	KIAA1045	3	3
KIAA1045	23349	broad.mit.edu	37	9	34971551	34971551	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34971551C>A	uc003zvq.2	+	c.256C>A	c.(256-258)CGC>AGC	p.R86S	KIAA1045_uc003zvr.2_Missense_Mutation_p.R86S	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	86							calcium ion binding|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)											0.519713	420.503258	420.604718	145	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34971551	34971551	8514	9	C	A	A	A	351	27	KIAA1045	1	1
KIAA1045	23349	broad.mit.edu	37	9	34977564	34977564	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34977564C>G	uc003zvq.2	+	c.1032C>G	c.(1030-1032)ATC>ATG	p.I344M	KIAA1045_uc003zvr.2_Missense_Mutation_p.I344M	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	344							calcium ion binding|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)											0.555556	36.354253	36.403092	10	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34977564	34977564	8514	9	C	G	G	G	395	31	KIAA1045	3	3
FANCG	2189	broad.mit.edu	37	9	35076537	35076537	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35076537A>G	uc003zwb.1	-	c.968T>C	c.(967-969)ATT>ACT	p.I323T	FANCG_uc003zwa.1_Missense_Mutation_p.I65T|FANCG_uc010mkj.1_Missense_Mutation_p.I65T|FANCG_uc011lot.1_Missense_Mutation_p.I323T	NM_004629	NP_004620	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	323					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				0.183206	53.512003	65.870517	24	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35076537	35076537	5904	9	A	G	G	G	52	4	FANCG	4	4
KIAA1539	80256	broad.mit.edu	37	9	35105288	35105288	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35105288G>A	uc003zwl.2	-	c.1547C>T	c.(1546-1548)ACA>ATA	p.T516I	STOML2_uc003zwh.2_5'Flank|STOML2_uc003zwi.2_5'Flank|STOML2_uc003zwj.2_5'Flank|STOML2_uc011lou.1_5'Flank|STOML2_uc003zwk.2_5'Flank|KIAA1539_uc003zwm.2_Missense_Mutation_p.T516I|KIAA1539_uc003zwn.2_Missense_Mutation_p.T211I|KIAA1539_uc003zwo.2_Missense_Mutation_p.T516I	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	516						nucleus				ovary(1)	1	all_epithelial(49;0.217)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)											0.2	35.826559	43.351527	18	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35105288	35105288	8551	9	G	A	A	A	624	48	KIAA1539	2	2
FRMPD1	22844	broad.mit.edu	37	9	37692668	37692668	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37692668G>T	uc004aag.1	+	c.30G>T	c.(28-30)CAG>CAT	p.Q10H	FRMPD1_uc004aah.1_Missense_Mutation_p.Q10H	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	10						cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|breast(1)	7				GBM - Glioblastoma multiforme(29;0.00655)										0.21455	385.486437	446.521148	174	637	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37692668	37692668	6307	9	G	T	T	T	425	33	FRMPD1	2	2
SHB	6461	broad.mit.edu	37	9	37974622	37974623	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:37974622_37974623CC>AG	uc004aax.2	-	c.1050_1051GG>CT	c.(1048-1053)CTGGCA>CTCTCA	p.A351S		NM_003028	NP_003019	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein	351	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)	2		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)										0.491935	191.155385	191.162074	61	63	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	37974622	37974623	14760	9	CC	AG	AG	AG	338	26	SHB	2	2
CNTNAP3	79937	broad.mit.edu	37	9	39086799	39086799	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:39086799C>A	uc004abi.2	-	c.3268G>T	c.(3268-3270)GCA>TCA	p.A1090S	CNTNAP3_uc004abj.2_Missense_Mutation_p.A1009S|CNTNAP3_uc011lqr.1_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.A1090S	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	1090	Laminin G-like 4.|Extracellular (Potential).				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.758621	147.326246	150.863348	44	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39086799	39086799	3786	9	C	A	A	A	325	25	CNTNAP3	2	2
CNTNAP3	79937	broad.mit.edu	37	9	39176063	39176063	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:39176063G>T	uc004abi.2	-	c.954C>A	c.(952-954)CCC>CCA	p.P318P	CNTNAP3_uc004abj.2_Silent_p.P318P|CNTNAP3_uc011lqr.1_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.P318P|CNTNAP3_uc011lqs.1_Silent_p.P318P|CNTNAP3_uc004abl.1_Silent_p.P230P	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	318	Extracellular (Potential).|Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.229947	111.6714	124.142005	43	144	KEEP	---	---	---	---	capture		Silent	SNP	39176063	39176063	3786	9	G	T	T	T	496	39	CNTNAP3	1	1
GLIS3	169792	broad.mit.edu	37	9	3937124	3937124	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:3937124T>A	uc003zhx.1	-	c.1776A>T	c.(1774-1776)ACA>ACT	p.T592T	GLIS3_uc010mhf.1_5'UTR|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Silent_p.T437T|GLIS3_uc003zhy.1_Silent_p.T370T|GLIS3_uc003zhz.1_Silent_p.T370T	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform a	437					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter		DNA binding|specific RNA polymerase II transcription factor activity|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)										0.393678	398.691167	402.132055	137	211	KEEP	---	---	---	---	capture		Silent	SNP	3937124	3937124	6715	9	T	A	A	A	704	55	GLIS3	3	3
DOCK8	81704	broad.mit.edu	37	9	420997	420997	+	Silent	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:420997A>C	uc003zgf.2	+	c.4072A>C	c.(4072-4074)AGG>CGG	p.R1358R	DOCK8_uc010mgu.2_Silent_p.R660R|DOCK8_uc010mgv.2_Silent_p.R1258R|DOCK8_uc003zgk.2_Silent_p.R816R	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1358	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)										0.19598	76.202073	93.360074	39	160	KEEP	---	---	---	---	capture		Silent	SNP	420997	420997	4877	9	A	C	C	C	36	3	DOCK8	4	4
PDCD1LG2	80380	broad.mit.edu	37	9	5534897	5534897	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:5534897C>A	uc011lmc.1	+	c.208C>A	c.(208-210)CGT>AGT	p.R70S	C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc003zjg.3_Missense_Mutation_p.R70S|PDCD1LG2_uc011lmd.1_Missense_Mutation_p.R70S|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.R70S|PDCD1LG2_uc010mho.1_Missense_Mutation_p.R70S	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2 precursor	70	Ig-like V-type.|Extracellular (Potential).				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity				0	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)										0.315217	162.090106	167.622925	58	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5534897	5534897	12039	9	C	A	A	A	299	23	PDCD1LG2	1	1
UHRF2	115426	broad.mit.edu	37	9	6504600	6504600	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:6504600T>A	uc003zjy.2	+	c.2171T>A	c.(2170-2172)CTG>CAG	p.L724Q	UHRF2_uc003zjz.2_Non-coding_Transcript|UHRF2_uc003zkb.2_Non-coding_Transcript	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	724					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)										0.431034	76.964496	77.205312	25	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6504600	6504600	17528	9	T	A	A	A	715	55	UHRF2	3	3
PTAR1	375743	broad.mit.edu	37	9	72347217	72347217	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:72347217C>G	uc004ahj.3	-	c.480G>C	c.(478-480)GTG>GTC	p.V160V	PTAR1_uc004ahi.2_Silent_p.V81V	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat	160					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)	1														0.401639	162.252157	163.284048	49	73	KEEP	---	---	---	---	capture		Silent	SNP	72347217	72347217	13178	9	C	G	G	G	366	29	PTAR1	3	3
TMEM2	23670	broad.mit.edu	37	9	74329881	74329881	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:74329881C>G	uc011lsa.1	-	c.2560G>C	c.(2560-2562)GAC>CAC	p.D854H	TMEM2_uc010mos.2_Missense_Mutation_p.D791H|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	854						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)										0.424528	139.831333	140.362779	45	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74329881	74329881	16656	9	C	G	G	G	416	32	TMEM2	3	3
TMEM2	23670	broad.mit.edu	37	9	74345683	74345683	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:74345683C>A	uc011lsa.1	-	c.1711G>T	c.(1711-1713)GGC>TGC	p.G571C	TMEM2_uc010mos.2_Missense_Mutation_p.G508C|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	571						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)										0.580645	177.064072	177.592611	54	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74345683	74345683	16656	9	C	A	A	A	299	23	TMEM2	1	1
TMEM2	23670	broad.mit.edu	37	9	74365095	74365095	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:74365095T>C	uc011lsa.1	-	c.195A>G	c.(193-195)GAA>GAG	p.E65E	TMEM2_uc010mos.2_Silent_p.E65E|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	65						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)										0.31746	61.577763	63.44392	20	43	KEEP	---	---	---	---	capture		Silent	SNP	74365095	74365095	16656	9	T	C	C	C	725	56	TMEM2	4	4
TRPM6	140803	broad.mit.edu	37	9	77386753	77386753	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:77386753T>A	uc004ajl.1	-	c.3404_splice	c.e25-1	p.K1135_splice	TRPM6_uc004ajk.1_Splice_Site_SNP_p.K1130_splice|TRPM6_uc010mpb.1_Splice_Site_SNP|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Splice_Site_SNP_p.K91_splice	NM_017662	NP_060132			transient receptor potential cation channel,						protein phosphorylation|response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4										879				0.34375	64.631974	66.011494	22	42	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	77386753	77386753	17141	9	T	A	A	A	689	53	TRPM6	5	3
PRUNE2	158471	broad.mit.edu	37	9	79323987	79323987	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79323987T>C	uc010mpk.2	-	c.3203A>G	c.(3202-3204)GAG>GGG	p.E1068G		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1068					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0														0.78125	171.946733	176.597487	50	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79323987	79323987	13092	9	T	C	C	C	702	54	PRUNE2	4	4
PRUNE2	158471	broad.mit.edu	37	9	79328503	79328503	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79328503T>C	uc010mpk.2	-	c.891A>G	c.(889-891)TCA>TCG	p.S297S		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	297					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0														0.482759	40.745959	40.753529	14	15	KEEP	---	---	---	---	capture		Silent	SNP	79328503	79328503	13092	9	T	C	C	C	704	55	PRUNE2	4	4
FLJ46321	389763	broad.mit.edu	37	9	84603914	84603914	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84603914C>T	uc004amn.2	+	c.181C>T	c.(181-183)CAA>TAA	p.Q61*		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	61						integral to membrane					0														0.873832	605.705468	634.864142	187	27	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	84603914	84603914	6174	9	C	T	T	T	273	21	FLJ46321	5	2
FLJ46321	389763	broad.mit.edu	37	9	84607853	84607853	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:84607853A>G	uc004amn.2	+	c.2468A>G	c.(2467-2469)CAG>CGG	p.Q823R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	823						integral to membrane					0														0.575581	310.528519	311.383081	99	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84607853	84607853	6174	9	A	G	G	G	91	7	FLJ46321	4	4
PTPRD	5789	broad.mit.edu	37	9	8484156	8484156	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8484156C>A	uc003zkk.2	-	c.3376G>T	c.(3376-3378)GTG>TTG	p.V1126L	PTPRD_uc003zkp.2_Missense_Mutation_p.V715L|PTPRD_uc003zkq.2_Missense_Mutation_p.V715L|PTPRD_uc003zkr.2_Missense_Mutation_p.V710L|PTPRD_uc003zks.2_Missense_Mutation_p.V705L|PTPRD_uc003zkl.2_Missense_Mutation_p.V1117L|PTPRD_uc003zkm.2_Missense_Mutation_p.V1113L|PTPRD_uc003zkn.2_Missense_Mutation_p.V715L|PTPRD_uc003zko.2_Missense_Mutation_p.V712L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1126	Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.479769	263.109052	263.170984	83	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8484156	8484156	13256	9	C	A	A	A	221	17	PTPRD	2	2
PTPRD	5789	broad.mit.edu	37	9	8485850	8485850	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8485850T>C	uc003zkk.2	-	c.2967A>G	c.(2965-2967)ACA>ACG	p.T989T	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Silent_p.T980T|PTPRD_uc003zkm.2_Silent_p.T976T|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	989	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.482759	213.336826	213.374352	70	75	KEEP	---	---	---	---	capture		Silent	SNP	8485850	8485850	13256	9	T	C	C	C	652	51	PTPRD	4	4
PTPRD	5789	broad.mit.edu	37	9	8499814	8499814	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8499814C>G	uc003zkk.2	-	c.2155G>C	c.(2155-2157)GAG>CAG	p.E719Q	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.E719Q|PTPRD_uc003zkm.2_Missense_Mutation_p.E706Q|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	719	Fibronectin type-III 5.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.269962	207.532324	220.072758	71	192	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8499814	8499814	13256	9	C	G	G	G	403	31	PTPRD	3	3
PTPRD	5789	broad.mit.edu	37	9	8500792	8500792	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8500792G>T	uc003zkk.2	-	c.2090C>A	c.(2089-2091)CCT>CAT	p.P697H	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.P697H|PTPRD_uc003zkm.2_Missense_Mutation_p.P684H|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	697	Fibronectin type-III 4.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		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)			0.241071	193.253809	213.779245	81	255	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8500792	8500792	13256	9	G	T	T	T	455	35	PTPRD	2	2
NTRK2	4915	broad.mit.edu	37	9	87635234	87635234	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:87635234T>G	uc004anz.1	+	c.2286T>G	c.(2284-2286)ATT>ATG	p.I762M	NTRK2_uc004aoa.1_Missense_Mutation_p.I746M	NM_006180	NP_006171	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	746	Protein kinase.|Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|protein phosphorylation	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(1)|liver(1)|central_nervous_system(1)|skin(1)	12										348	TSP Lung(25;0.17)			0.464832	480.283755	480.641778	152	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87635234	87635234	11112	9	T	G	G	G	822	64	NTRK2	4	4
FGD3	89846	broad.mit.edu	37	9	95795119	95795119	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95795119T>C	uc004asw.2	+	c.1749T>C	c.(1747-1749)TGT>TGC	p.C583C	FGD3_uc004asx.2_Silent_p.C583C|FGD3_uc004asz.2_Silent_p.C583C|FGD3_uc011luc.1_Silent_p.C186C	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	583	FYVE-type.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(1)|breast(1)	2														0.488372	59.532536	59.538576	21	22	KEEP	---	---	---	---	capture		Silent	SNP	95795119	95795119	6071	9	T	C	C	C	777	60	FGD3	4	4
ZNF169	169841	broad.mit.edu	37	9	97062816	97062816	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:97062816G>T	uc004aum.1	+	c.976G>T	c.(976-978)GGC>TGC	p.G326C		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	326	C2H2-type 4.				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)												0.51938	208.5226	208.564535	67	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97062816	97062816	18333	9	G	T	T	T	455	35	ZNF169	2	2
FAM22F	54754	broad.mit.edu	37	9	97087698	97087698	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:97087698G>T	uc004aup.1	-	c.535C>A	c.(535-537)CCA>ACA	p.P179T		NM_017561	NP_060031	A1L443	FA22F_HUMAN	hypothetical protein LOC54754	179											0		Acute lymphoblastic leukemia(62;0.136)												0.466667	63.281746	63.323905	21	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97087698	97087698	5760	9	G	T	T	T	546	42	FAM22F	2	2
FAM22F	54754	broad.mit.edu	37	9	97088023	97088023	+	Silent	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:97088023G>C	uc004aup.1	-	c.210C>G	c.(208-210)GGC>GGG	p.G70G		NM_017561	NP_060031	A1L443	FA22F_HUMAN	hypothetical protein LOC54754	70											0		Acute lymphoblastic leukemia(62;0.136)												0.473684	22.693934	22.710059	9	10	KEEP	---	---	---	---	capture		Silent	SNP	97088023	97088023	5760	9	G	C	C	C	535	42	FAM22F	3	3
DMRT3	58524	broad.mit.edu	37	9	990458	990458	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:990458C>T	uc003zgw.1	+	c.872C>T	c.(871-873)TCA>TTA	p.S291L		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	291					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)										0.454545	103.514978	103.653635	35	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	990458	990458	4767	9	C	T	T	T	377	29	DMRT3	2	2
TAF7L	54457	broad.mit.edu	37	X	100530248	100530248	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100530248C>A	uc004ehb.2	-	c.1306G>T	c.(1306-1308)GAG>TAG	p.E436*	TAF7L_uc004eha.2_Nonsense_Mutation_p.E276*	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	436	Potential.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding|general RNA polymerase II transcription factor activity			breast(1)	1						Ovarian(104;431 1530 3210 15406 18594)								0.845455	296.616085	309.149775	93	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100530248	100530248	16054	23	C	A	A	A	390	30	TAF7L	5	2
WWC3	55841	broad.mit.edu	37	X	10066580	10066580	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:10066580G>T	uc004csx.3	+	c.692G>T	c.(691-693)CGA>CTA	p.R231L	WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	231	Potential.									ovary(4)	4														0.404762	50.051243	50.387653	17	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10066580	10066580	17987	23	G	T	T	T	481	37	WWC3	1	1
WWC3	55841	broad.mit.edu	37	X	10085242	10085242	+	Silent	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:10085242C>T	uc004csx.3	+	c.1143C>T	c.(1141-1143)TCC>TCT	p.S381S	WWC3_uc010nds.2_Silent_p.S45S|WWC3_uc010ndt.2_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	381	Ser-rich.									ovary(4)	4														0.609756	78.37711	78.808306	25	16	KEEP	---	---	---	---	capture		Silent	SNP	10085242	10085242	17987	23	C	T	T	T	262	21	WWC3	2	2
ARMCX5	64860	broad.mit.edu	37	X	101858468	101858468	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101858468A>G	uc004ejg.2	+	c.1399A>G	c.(1399-1401)AGA>GGA	p.R467G	ARMCX5_uc004ejh.2_Missense_Mutation_p.R467G	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	467	ARM 3.						binding			ovary(1)	1														0.870588	275.610265	286.974337	74	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101858468	101858468	980	23	A	G	G	G	36	3	ARMCX5	4	4
GPRASP2	114928	broad.mit.edu	37	X	101972045	101972045	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101972045G>T	uc004ejk.2	+	c.2248G>T	c.(2248-2250)GCT>TCT	p.A750S	GPRASP2_uc004ejl.2_Missense_Mutation_p.A750S|GPRASP2_uc004ejm.2_Missense_Mutation_p.A750S|GPRASP2_uc011mrp.1_Missense_Mutation_p.A89S	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	750						cytoplasm	protein binding			ovary(1)	1														0.9	273.672256	288.26522	81	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101972045	101972045	6999	23	G	T	T	T	598	46	GPRASP2	2	2
RAB40AL	282808	broad.mit.edu	37	X	102192661	102192661	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102192661G>T	uc004ejs.2	+	c.415G>T	c.(415-417)GAG>TAG	p.E139*		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	139					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			ovary(2)	2														0.848485	86.111403	89.960195	28	5	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	102192661	102192661	13399	23	G	T	T	T	533	41	RAB40AL	5	2
MORF4L2	9643	broad.mit.edu	37	X	102931491	102931491	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102931491T>A	uc004ekw.2	-	c.465A>T	c.(463-465)GTA>GTT	p.V155V	MORF4L2_uc004ela.2_Silent_p.V155V|MORF4L2_uc004ekx.2_Silent_p.V155V|MORF4L2_uc004elb.2_Silent_p.V155V|MORF4L2_uc004eky.2_Silent_p.V155V|MORF4L2_uc010nos.2_Silent_p.V155V|MORF4L2_uc004ekz.2_Silent_p.V155V|MORF4L2_uc011mry.1_Silent_p.V155V|MORF4L2_uc011mrz.1_Silent_p.V155V|MORF4L2_uc004elc.2_Silent_p.V155V|MORF4L2_uc004elf.2_Silent_p.V155V|MORF4L2_uc004ele.2_Silent_p.V155V|MORF4L2_uc011msa.1_Silent_p.V155V|MORF4L2_uc011msb.1_Silent_p.V155V|MORF4L2_uc011msc.1_Silent_p.V155V|MORF4L2_uc011msd.1_Silent_p.V155V|MORF4L2_uc004eld.2_Silent_p.V155V	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	155					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding				0														0.880795	451.253355	472.741761	133	18	KEEP	---	---	---	---	capture		Silent	SNP	102931491	102931491	10098	23	T	A	A	A	678	53	MORF4L2	3	3
MUM1L1	139221	broad.mit.edu	37	X	105450166	105450166	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:105450166G>T	uc004emf.1	+	c.741G>T	c.(739-741)ATG>ATT	p.M247I	MUM1L1_uc004emg.1_Missense_Mutation_p.M247I	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	247										ovary(2)|pancreas(1)|skin(1)	4														0.864865	106.820397	111.591643	32	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105450166	105450166	10380	23	G	T	T	T	598	46	MUM1L1	2	2
TBC1D8B	54885	broad.mit.edu	37	X	106046140	106046140	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:106046140G>A	uc004emo.2	+	c.57G>A	c.(55-57)ATG>ATA	p.M19I	TBC1D8B_uc004emm.2_Missense_Mutation_p.M19I|TBC1D8B_uc004emn.2_Missense_Mutation_p.M19I	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	19						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)	3														0.870968	189.790126	198.098671	54	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106046140	106046140	16152	23	G	A	A	A	611	47	TBC1D8B	2	2
COL4A6	1288	broad.mit.edu	37	X	107408244	107408244	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107408244G>T	uc004enw.3	-	c.3836C>A	c.(3835-3837)CCA>CAA	p.P1279Q	COL4A6_uc004env.3_Missense_Mutation_p.P1278Q|COL4A6_uc011msn.1_Missense_Mutation_p.P1254Q|COL4A6_uc010npk.2_Missense_Mutation_p.P1254Q|COL4A6_uc010npj.2_5'Flank	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1279	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						Melanoma(87;1895 1945 2589 7165)								0.914286	107.069487	113.106786	32	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107408244	107408244	3833	23	G	T	T	T	611	47	COL4A6	2	2
COL4A5	1287	broad.mit.edu	37	X	107863584	107863584	+	Missense_Mutation	SNP	G	A	A	rs104886189		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107863584G>A	uc004enz.1	+	c.2605G>A	c.(2605-2607)GGA>AGA	p.G869R	COL4A5_uc011mso.1_Missense_Mutation_p.G869R|COL4A5_uc004eob.1_Missense_Mutation_p.G477R	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	869	Triple-helical region.		G -> R (in APSX; juvenile type).|Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.809524	113.073691	116.847125	34	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107863584	107863584	3832	23	G	A	A	A	507	39	COL4A5	1	1
LRCH2	57631	broad.mit.edu	37	X	114400181	114400181	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:114400181T>G	uc010nqe.2	-	c.1236A>C	c.(1234-1236)GAA>GAC	p.E412D	LRCH2_uc004epz.2_Missense_Mutation_p.E412D	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH)	412										ovary(1)	1														0.333333	10.494876	10.790646	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114400181	114400181	9306	23	T	G	G	G	725	56	LRCH2	4	4
KLHL13	90293	broad.mit.edu	37	X	117079539	117079539	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:117079539C>A	uc011mtp.1	-	c.105_splice	c.e3-1	p.G35_splice	KLHL13_uc004eqk.2_5'UTR|KLHL13_uc004eql.2_Splice_Site_SNP_p.I33_splice|KLHL13_uc011mtn.1_Splice_Site_SNP|KLHL13_uc011mto.1_Splice_Site_SNP_p.R27_splice|KLHL13_uc004eqm.2_Splice_Site_SNP|KLHL13_uc011mtq.1_Splice_Site_SNP_p.R17_splice	NM_033495	NP_277030			kelch-like 13						cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)	1														0.805556	95.794112	98.928096	29	7	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	117079539	117079539	8681	23	C	A	A	A	416	32	KLHL13	5	2
DOCK11	139818	broad.mit.edu	37	X	117810668	117810668	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:117810668G>T	uc004eqp.2	+	c.5428G>T	c.(5428-5430)GAG>TAG	p.E1810*	DOCK11_uc004eqq.2_Nonsense_Mutation_p.E1589*	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1810	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3														0.8	51.109187	52.782151	16	4	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	117810668	117810668	4870	23	G	T	T	T	533	41	DOCK11	5	2
ODZ1	10178	broad.mit.edu	37	X	123517708	123517708	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123517708G>T	uc010nqy.2	-	c.7073C>A	c.(7072-7074)CCT>CAT	p.P2358H	ODZ1_uc011muj.1_Missense_Mutation_p.P2357H|ODZ1_uc004euj.2_Missense_Mutation_p.P2351H	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 1	2351	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	22										623				0.866667	173.434739	181.260098	52	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123517708	123517708	11239	23	G	T	T	T	455	35	ODZ1	2	2
ACTRT1	139741	broad.mit.edu	37	X	127186093	127186093	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:127186093G>T	uc004eum.2	-	c.93C>A	c.(91-93)CCC>CCA	p.P31P		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	31						cytoplasm|cytoskeleton				ovary(2)|central_nervous_system(2)	4														0.902439	238.085177	251.371312	74	8	KEEP	---	---	---	---	capture		Silent	SNP	127186093	127186093	219	23	G	T	T	T	548	43	ACTRT1	2	2
PRPS2	5634	broad.mit.edu	37	X	12817486	12817486	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:12817486G>T	uc004cva.2	+	c.283G>T	c.(283-285)GCC>TCC	p.A95S	PRPS2_uc004cvb.2_Missense_Mutation_p.A95S|PRPS2_uc010nec.2_Missense_Mutation_p.A28S	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	95					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity				0														0.936709	775.379105	805.479197	222	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12817486	12817486	13023	23	G	T	T	T	494	38	PRPS2	1	1
SAGE1	55511	broad.mit.edu	37	X	134994548	134994548	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:134994548G>T	uc004ezh.2	+	c.2590G>T	c.(2590-2592)GAA>TAA	p.E864*	SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.1_Nonsense_Mutation_p.E488*	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	864										ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.936709	250.696591	263.886461	74	5	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	134994548	134994548	14289	23	G	T	T	T	585	45	SAGE1	5	2
GPR112	139378	broad.mit.edu	37	X	135428676	135428676	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135428676T>C	uc004ezu.1	+	c.2811T>C	c.(2809-2811)TAT>TAC	p.Y937Y	GPR112_uc010nsb.1_Silent_p.Y732Y|GPR112_uc010nsc.1_Silent_p.Y704Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	937	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				0.899606	1531.962181	1612.915532	457	51	KEEP	---	---	---	---	capture		Silent	SNP	135428676	135428676	6903	23	T	C	C	C	660	51	GPR112	4	4
HTATSF1	27336	broad.mit.edu	37	X	135593311	135593311	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135593311G>T	uc004ezw.2	+	c.1407G>T	c.(1405-1407)GAG>GAT	p.E469D	HTATSF1_uc004ezx.2_Missense_Mutation_p.E469D	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	469	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding|RNA polymerase II transcription factor activity|transcription elongation regulator activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)													0.836207	307.221546	320.036725	97	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	135593311	135593311	7733	23	G	T	T	T	451	35	HTATSF1	2	2
EGFL6	25975	broad.mit.edu	37	X	13645250	13645250	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:13645250G>T	uc004cvj.2	+	c.1409G>T	c.(1408-1410)CGG>CTG	p.R470L	EGFL6_uc004cvi.2_Missense_Mutation_p.R469L	NM_015507	NP_056322	Q8IUX8	EGFL6_HUMAN	epidermal growth factor-like protein 6	469	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)	2														0.525547	238.043598	238.125287	72	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13645250	13645250	5152	23	G	T	T	T	507	39	EGFL6	1	1
OFD1	8481	broad.mit.edu	37	X	13778751	13778751	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:13778751G>T	uc004cvp.3	+	c.2172G>T	c.(2170-2172)AGG>AGT	p.R724S	OFD1_uc004cvr.3_Missense_Mutation_p.R291S|OFD1_uc011mil.1_Missense_Mutation_p.R291S|OFD1_uc004cvq.3_Missense_Mutation_p.R584S|OFD1_uc010nen.2_Missense_Mutation_p.R723S|OFD1_uc004cvs.3_Non-coding_Transcript|OFD1_uc004cvu.3_Missense_Mutation_p.R683S|OFD1_uc004cvv.3_Missense_Mutation_p.R683S	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	724	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0														0.935185	327.54426	343.535395	101	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13778751	13778751	11243	23	G	T	T	T	542	42	OFD1	2	2
CXorf66	347487	broad.mit.edu	37	X	139038576	139038576	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:139038576C>T	uc004fbb.2	-	c.565G>A	c.(565-567)GAA>AAA	p.E189K		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	189	Cytoplasmic (Potential).					integral to membrane					0														0.883495	313.245465	328.126359	91	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139038576	139038576	4283	23	C	T	T	T	416	32	CXorf66	2	2
MAGEC3	139081	broad.mit.edu	37	X	140983193	140983193	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140983193G>A	uc011mwp.1	+	c.1048G>A	c.(1048-1050)GGA>AGA	p.G350R	MAGEC3_uc004fbs.2_5'UTR|MAGEC3_uc010nsj.2_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	350	MAGE 1.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.888889	261.059391	273.16957	72	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140983193	140983193	9563	23	G	A	A	A	455	35	MAGEC3	2	2
MAGEC1	9947	broad.mit.edu	37	X	140993473	140993473	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140993473C>T	uc004fbt.2	+	c.283C>T	c.(283-285)CCT>TCT	p.P95S	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	95							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.908451	854.727968	902.399325	258	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140993473	140993473	9561	23	C	T	T	T	390	30	MAGEC1	2	2
SLITRK4	139065	broad.mit.edu	37	X	142717182	142717183	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142717182_142717183GG>CT	uc004fbx.2	-	c.1742_1743CC>AG	c.(1741-1743)CCC>CAG	p.P581Q	SLITRK4_uc004fby.2_Missense_Mutation_p.P581Q	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	581	Extracellular (Potential).|LRRCT 2.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.896552	190.041797	199.121793	52	6	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	142717182	142717183	15243	23	GG	CT	CT	CT	600	47	SLITRK4	3	3
SPANXN2	494119	broad.mit.edu	37	X	142803690	142803690	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142803690C>A	uc004fbz.2	-	c.73G>T	c.(73-75)GAT>TAT	p.D25Y		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	25										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)													0.964286	91.673709	93.97826	27	1	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142803690	142803690	15499	23	C	A	A	A	377	29	SPANXN2	2	2
SLITRK2	84631	broad.mit.edu	37	X	144905636	144905636	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144905636G>T	uc004fcd.2	+	c.1693G>T	c.(1693-1695)GCA>TCA	p.A565S	SLITRK2_uc010nsp.2_Missense_Mutation_p.A565S|SLITRK2_uc010nso.2_Missense_Mutation_p.A565S|SLITRK2_uc011mwq.1_Missense_Mutation_p.A565S|SLITRK2_uc011mwr.1_Missense_Mutation_p.A565S|SLITRK2_uc011mws.1_Missense_Mutation_p.A565S|SLITRK2_uc004fcg.2_Missense_Mutation_p.A565S|SLITRK2_uc011mwt.1_Missense_Mutation_p.A565S	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	565	Extracellular (Potential).|LRRCT 2.					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.880952	121.792567	127.773686	37	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144905636	144905636	15241	23	G	T	T	T	598	46	SLITRK2	2	2
SLITRK2	84631	broad.mit.edu	37	X	144905726	144905726	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144905726A>T	uc004fcd.2	+	c.1783A>T	c.(1783-1785)AAT>TAT	p.N595Y	SLITRK2_uc010nsp.2_Missense_Mutation_p.N595Y|SLITRK2_uc010nso.2_Missense_Mutation_p.N595Y|SLITRK2_uc011mwq.1_Missense_Mutation_p.N595Y|SLITRK2_uc011mwr.1_Missense_Mutation_p.N595Y|SLITRK2_uc011mws.1_Missense_Mutation_p.N595Y|SLITRK2_uc004fcg.2_Missense_Mutation_p.N595Y|SLITRK2_uc011mwt.1_Missense_Mutation_p.N595Y	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	595	Extracellular (Potential).					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.891892	106.472856	112.09761	33	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144905726	144905726	15241	23	A	T	T	T	65	5	SLITRK2	3	3
FMR1	2332	broad.mit.edu	37	X	147024765	147024765	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:147024765G>T	uc010nst.2	+	c.1390G>T	c.(1390-1392)GAT>TAT	p.D464Y	FMR1_uc004fcj.2_Missense_Mutation_p.D441Y|FMR1_uc004fck.3_Missense_Mutation_p.D443Y|FMR1_uc004fcl.3_Missense_Mutation_p.D304Y|FMR1_uc011mxa.1_Missense_Mutation_p.D111Y	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	464	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.94382	282.356163	294.783216	84	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147024765	147024765	6202	23	G	T	T	T	585	45	FMR1	2	2
TMEM185A	84548	broad.mit.edu	37	X	148690401	148690401	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148690401C>A	uc011mxq.1	-	c.336G>T	c.(334-336)TGG>TGT	p.W112C	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.W53C|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.W29C	NM_032508	NP_115897	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	112	Helical; (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)													0.872093	242.872788	254.474134	75	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148690401	148690401	16641	23	C	A	A	A	338	26	TMEM185A	2	2
CXorf40B	541578	broad.mit.edu	37	X	149101928	149101928	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149101928C>A	uc004fdy.2	-	c.165G>T	c.(163-165)GAG>GAT	p.E55D	CXorf40B_uc011mxs.1_Non-coding_Transcript	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	hypothetical protein LOC541578	55											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.825	106.995557	110.97947	33	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149101928	149101928	4270	23	C	A	A	A	363	28	CXorf40B	2	2
GABRQ	55879	broad.mit.edu	37	X	151821226	151821226	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:151821226C>T	uc004ffp.1	+	c.1381C>T	c.(1381-1383)CGG>TGG	p.R461W		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	461						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.95614	405.295366	414.781854	109	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	151821226	151821226	6426	23	C	T	T	T	295	23	GABRQ	1	1
ATP2B3	492	broad.mit.edu	37	X	152825187	152825187	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152825187G>T	uc004fht.1	+	c.2626G>T	c.(2626-2628)GAC>TAC	p.D876Y	ATP2B3_uc004fhs.1_Missense_Mutation_p.D876Y|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	876	Extracellular (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.931034	86.654839	91.291686	27	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152825187	152825187	1160	23	G	T	T	T	533	41	ATP2B3	2	2
ASMTL	8623	broad.mit.edu	37	X	1554611	1554611	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1554611T>A	uc004cpx.1	-	c.314A>T	c.(313-315)CAG>CTG	p.Q105L	ASMTL_uc011mhe.1_Intron|ASMTL_uc004cpy.1_Missense_Mutation_p.Q89L|ASMTL_uc011mhf.1_Missense_Mutation_p.Q47L	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	105	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase 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)												0.407407	33.223393	33.424575	11	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1554611	1554611	1065	23	T	A	A	A	715	55	ASMTL	3	3
SFRS17A	8227	broad.mit.edu	37	X	1720179	1720179	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1720179G>T	uc004cqa.2	+	c.1780G>T	c.(1780-1782)GGG>TGG	p.G594W	SFRS17A_uc004cqb.2_Non-coding_Transcript|ASMT_uc004cqd.2_Intron	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	594	Arg-rich.				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.818182	30.281317	31.327215	9	2	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1720179	1720179	14663	23	G	T	T	T	507	39	SFRS17A	1	1
ASMT	438	broad.mit.edu	37	X	1743181	1743181	+	Silent	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1743181G>A	uc004cqd.2	+	c.264G>A	c.(262-264)GAG>GAA	p.E88E	ASMT_uc010ncy.2_Silent_p.E88E|ASMT_uc004cqe.2_Silent_p.E88E	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	88					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)												0.818898	343.057849	355.190539	104	23	KEEP	---	---	---	---	capture		Silent	SNP	1743181	1743181	1064	23	G	A	A	A	438	34	ASMT	2	2
ASMT	438	broad.mit.edu	37	X	1746597	1746597	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:1746597G>A	uc004cqd.2	+	c.376G>A	c.(376-378)GAA>AAA	p.E126K	ASMT_uc010ncy.2_Missense_Mutation_p.E126K|ASMT_uc004cqe.2_Missense_Mutation_p.E126K	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	126					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)												0.195364	137.643915	163.778467	59	243	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1746597	1746597	1064	23	G	A	A	A	429	33	ASMT	2	2
GPR64	10149	broad.mit.edu	37	X	19027766	19027766	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:19027766G>T	uc004cyx.2	-	c.1400C>A	c.(1399-1401)GCC>GAC	p.A467D	GPR64_uc004cyy.2_Missense_Mutation_p.A464D|GPR64_uc004cyz.2_Missense_Mutation_p.A453D|GPR64_uc004czb.2_Missense_Mutation_p.A467D|GPR64_uc004czc.2_Missense_Mutation_p.A451D|GPR64_uc004czd.2_Missense_Mutation_p.A443D|GPR64_uc004cze.2_Missense_Mutation_p.A437D|GPR64_uc004czf.2_Missense_Mutation_p.A429D|GPR64_uc004cza.2_Missense_Mutation_p.A445D|GPR64_uc004cyw.2_Missense_Mutation_p.A451D|GPR64_uc010nfj.2_Missense_Mutation_p.A437D	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	467	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)													0.464	174.325484	174.455283	58	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19027766	19027766	6980	23	G	T	T	T	546	42	GPR64	2	2
PDK3	5165	broad.mit.edu	37	X	24546235	24546235	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:24546235C>A	uc004dbh.2	+	c.895C>A	c.(895-897)CGT>AGT	p.R299S	PDK3_uc004dbg.2_Missense_Mutation_p.R299S	NM_001142386	NP_001135858	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase 3 isoform 1	299	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6										227				0.433333	78.241167	78.473445	26	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24546235	24546235	12098	23	C	A	A	A	403	31	PDK3	1	1
MAGEB18	286514	broad.mit.edu	37	X	26157432	26157432	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:26157432A>C	uc004dbq.1	+	c.330A>C	c.(328-330)AAA>AAC	p.K110N		NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	110	MAGE.						protein binding			central_nervous_system(1)	1														0.131579	5.14608	10.1641	5	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26157432	26157432	9556	23	A	C	C	C	37	3	MAGEB18	4	4
MAGEB10	139422	broad.mit.edu	37	X	27840245	27840245	+	Silent	SNP	A	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:27840245A>C	uc004dbw.2	+	c.822A>C	c.(820-822)CTA>CTC	p.L274L		NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	274	MAGE.									lung(1)|breast(1)|central_nervous_system(1)	3														0.436364	80.493243	80.687087	24	31	KEEP	---	---	---	---	capture		Silent	SNP	27840245	27840245	9554	23	A	C	C	C	197	16	MAGEB10	4	4
ARSF	416	broad.mit.edu	37	X	3002284	3002284	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3002284G>C	uc004cre.1	+	c.407G>C	c.(406-408)GGC>GCC	p.G136A	ARSF_uc004crf.1_Missense_Mutation_p.G136A	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	136						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.891892	116.001214	121.633725	33	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3002284	3002284	1009	23	G	C	C	C	546	42	ARSF	3	3
MAGEB4	4115	broad.mit.edu	37	X	30261047	30261047	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30261047C>A	uc004dcb.2	+	c.795C>A	c.(793-795)CCC>CCA	p.P265P	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	265	MAGE.									ovary(1)	1														0.432099	100.001634	100.328698	35	46	KEEP	---	---	---	---	capture		Silent	SNP	30261047	30261047	9559	23	C	A	A	A	275	22	MAGEB4	2	2
DMD	1756	broad.mit.edu	37	X	31224699	31224699	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:31224699A>T	uc004dda.1	-	c.9649T>A	c.(9649-9651)TAC>AAC	p.Y3217N	DMD_uc004dcq.1_Missense_Mutation_p.Y488N|DMD_uc004dcr.1_Missense_Mutation_p.Y757N|DMD_uc004dcs.1_Missense_Mutation_p.Y757N|DMD_uc004dct.1_Missense_Mutation_p.Y757N|DMD_uc004dcu.1_Missense_Mutation_p.Y757N|DMD_uc004dcv.1_Missense_Mutation_p.Y757N|DMD_uc004dcw.2_Missense_Mutation_p.Y1873N|DMD_uc004dcx.2_Missense_Mutation_p.Y1876N|DMD_uc004dcz.2_Missense_Mutation_p.Y3094N|DMD_uc004dcy.1_Missense_Mutation_p.Y3213N|DMD_uc004ddb.1_Missense_Mutation_p.Y3209N|DMD_uc004dcm.1_Missense_Mutation_p.Y149N|DMD_uc004dcn.1_Missense_Mutation_p.Y149N|DMD_uc004dco.1_Missense_Mutation_p.Y149N|DMD_uc004dcp.1_Missense_Mutation_p.Y149N|DMD_uc011mkb.1_Missense_Mutation_p.Y149N|DMD_uc010ngm.2_Missense_Mutation_p.Y149N	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3217	Interaction with SYNM (By similarity).				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)												0.947368	203.923952	209.35829	54	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31224699	31224699	4760	23	A	T	T	T	104	8	DMD	3	3
MXRA5	25878	broad.mit.edu	37	X	3241144	3241144	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3241144G>T	uc004crg.3	-	c.2582C>A	c.(2581-2583)GCC>GAC	p.A861D		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	861						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.965517	391.289884	400.545148	112	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3241144	3241144	10397	23	G	T	T	T	546	42	MXRA5	2	2
DMD	1756	broad.mit.edu	37	X	32466604	32466604	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32466604G>T	uc004dda.1	-	c.3755C>A	c.(3754-3756)ACT>AAT	p.T1252N	DMD_uc004dcz.2_Missense_Mutation_p.T1129N|DMD_uc004dcy.1_Missense_Mutation_p.T1248N|DMD_uc004ddb.1_Missense_Mutation_p.T1244N|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1252	Spectrin 8.				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)												0.518325	316.027855	316.083533	99	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32466604	32466604	4760	23	G	T	T	T	468	36	DMD	2	2
FAM47C	442444	broad.mit.edu	37	X	37029517	37029517	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37029517A>G	uc004ddl.1	+	c.3034A>G	c.(3034-3036)AAG>GAG	p.K1012E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	1012										ovary(3)	3														0.461538	318.681408	318.946962	96	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37029517	37029517	5792	23	A	G	G	G	169	13	FAM47C	4	4
BCOR	54880	broad.mit.edu	37	X	39932963	39932963	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:39932963G>A	uc004den.3	-	c.1636C>T	c.(1636-1638)CGC>TGC	p.R546C	BCOR_uc004dep.3_Missense_Mutation_p.R546C|BCOR_uc004deo.3_Missense_Mutation_p.R546C|BCOR_uc004dem.3_Missense_Mutation_p.R546C|BCOR_uc004deq.3_Missense_Mutation_p.R546C	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	546					chromatin modification|heart development|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|odontogenesis|palate development|protein ubiquitination|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|promoter binding|transcription corepressor activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.5	79.318797	79.318797	28	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39932963	39932963	1407	23	G	A	A	A	494	38	BCOR	1	1
CASK	8573	broad.mit.edu	37	X	41604855	41604855	+	Splice_Site_SNP	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:41604855C>A	uc004dfl.3	-	c.279_splice	c.e4-1	p.F93_splice	CASK_uc004dfm.3_Splice_Site_SNP_p.F93_splice|CASK_uc004dfn.3_Splice_Site_SNP_p.F93_splice	NM_003688	NP_003679			calcium/calmodulin-dependent serine protein						cell adhesion|protein phosphorylation	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						NSCLC(42;104 1086 3090 27189 35040)				254				0.36	25.266666	25.69864	9	16	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	41604855	41604855	2784	23	C	A	A	A	260	20	CASK	5	2
ZNF41	7592	broad.mit.edu	37	X	47306910	47306910	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47306910C>A	uc004dhs.3	-	c.2385G>T	c.(2383-2385)CAG>CAT	p.Q795H	ZNF41_uc004dhu.3_Missense_Mutation_p.Q787H|ZNF41_uc004dht.3_Missense_Mutation_p.Q667H|ZNF41_uc004dhv.3_Missense_Mutation_p.Q763H|ZNF41_uc004dhw.3_Missense_Mutation_p.Q755H|ZNF41_uc004dhy.3_Missense_Mutation_p.Q753H|ZNF41_uc004dhx.3_Missense_Mutation_p.Q753H|ZNF41_uc011mlm.1_Missense_Mutation_p.Q667H	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	795	C2H2-type 18.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)												0.485714	98.996724	99.010697	34	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47306910	47306910	18482	23	C	A	A	A	415	32	ZNF41	2	2
SYN1	6853	broad.mit.edu	37	X	47432343	47432343	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47432343G>C	uc004die.2	-	c.2038C>G	c.(2038-2040)CCC>GCC	p.P680A	SYN1_uc004did.2_Missense_Mutation_p.A667G	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	680	E.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1														0.514286	115.88798	115.900071	36	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47432343	47432343	15961	23	G	C	C	C	546	42	SYN1	3	3
TIMP1	7076	broad.mit.edu	37	X	47445945	47445945	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47445945G>A	uc004dif.2	+	c.479G>A	c.(478-480)TGC>TAC	p.C160Y	SYN1_uc004did.2_Intron|SYN1_uc004die.2_Intron	NM_003254	NP_003245	P01033	TIMP1_HUMAN	tissue inhibitor of metalloproteinase 1	160					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding				0														0.947368	178.00209	185.63092	54	3	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47445945	47445945	16446	23	G	A	A	A	598	46	TIMP1	2	2
UXT	8409	broad.mit.edu	37	X	47517012	47517012	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:47517012C>A	uc004dim.2	-	c.243G>T	c.(241-243)ATG>ATT	p.M81I	UXT_uc004din.2_Missense_Mutation_p.M69I|LOC100133957_uc011mls.1_5'Flank|LOC100133957_uc011mlt.1_5'Flank	NM_153477	NP_705582	Q9UBK9	UXT_HUMAN	ubiquitously-expressed transcript isoform 1	69					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding				0														0.903226	284.767577	299.921883	84	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47517012	47517012	17675	23	C	A	A	A	325	25	UXT	2	2
SSX5	6758	broad.mit.edu	37	X	48047126	48047126	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48047126C>A	uc004diz.1	-	c.631G>T	c.(631-633)GAG>TAG	p.E211*	SSX5_uc004dja.1_Nonsense_Mutation_p.E170*	NM_021015	NP_066295	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5 isoform a	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0														0.42663	467.331095	469.054349	157	211	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	48047126	48047126	15726	23	C	A	A	A	377	29	SSX5	5	2
PRICKLE3	4007	broad.mit.edu	37	X	49034420	49034420	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49034420G>A	uc004dmy.1	-	c.877C>T	c.(877-879)CGT>TGT	p.R293C	PRICKLE3_uc011mmv.1_Missense_Mutation_p.R225C|PRICKLE3_uc011mmw.1_Missense_Mutation_p.R212C|PRICKLE3_uc011mmx.1_Missense_Mutation_p.R255C|PRICKLE3_uc011mmy.1_Missense_Mutation_p.R280C	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	293	LIM zinc-binding 2.						protein binding|zinc ion binding			breast(1)	1														0.47619	206.039231	206.111397	70	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49034420	49034420	12931	23	G	A	A	A	494	38	PRICKLE3	1	1
AKAP4	8852	broad.mit.edu	37	X	49961636	49961636	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49961636G>A	uc004dow.1	-	c.182C>T	c.(181-183)GCT>GTT	p.A61V	AKAP4_uc004dov.1_Missense_Mutation_p.A52V|AKAP4_uc010njp.1_5'UTR|AKAP4_uc004dou.1_Missense_Mutation_p.A52V	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	61					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)	7	Ovarian(276;0.236)									119				0.969512	558.610042	569.483936	159	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49961636	49961636	456	23	G	A	A	A	442	34	AKAP4	2	2
DGKK	139189	broad.mit.edu	37	X	50167246	50167246	+	Silent	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50167246C>A	uc010njr.1	-	c.756G>T	c.(754-756)GCG>GCT	p.A252A		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	252	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)													0.452703	213.229112	213.51398	67	81	KEEP	---	---	---	---	capture		Silent	SNP	50167246	50167246	4651	23	C	A	A	A	288	23	DGKK	1	1
KDM5C	8242	broad.mit.edu	37	X	53222185	53222185	+	Silent	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:53222185C>G	uc004drz.2	-	c.4647G>C	c.(4645-4647)CTG>CTC	p.L1549L	KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Silent_p.L1548L	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	1549					chromatin modification|oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18														0.952381	145.11047	149.474879	40	2	KEEP	---	---	---	---	capture		Silent	SNP	53222185	53222185	8441	23	C	G	G	G	314	25	KDM5C	3	3
ITIH5L	347365	broad.mit.edu	37	X	54780086	54780086	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54780086G>A	uc004dtj.2	-	c.3350C>T	c.(3349-3351)GCA>GTA	p.A1117V		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1117					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5										249				0.477273	61.369653	61.389556	21	23	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54780086	54780086	8212	23	G	A	A	A	598	46	ITIH5L	2	2
ITIH5L	347365	broad.mit.edu	37	X	54817493	54817493	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54817493G>T	uc004dtj.2	-	c.393C>A	c.(391-393)CGC>CGA	p.R131R		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	131	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5										249				0.375	43.012797	43.562288	15	25	KEEP	---	---	---	---	capture		Silent	SNP	54817493	54817493	8212	23	G	T	T	T	587	46	ITIH5L	2	2
PFKFB1	5207	broad.mit.edu	37	X	54982667	54982667	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54982667C>A	uc004dty.1	-	c.557G>T	c.(556-558)CGG>CTG	p.R186L	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.R121L	NM_002625	NP_002616	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,	186	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(1)	1														0.413793	73.590108	73.966245	24	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54982667	54982667	12182	23	C	A	A	A	299	23	PFKFB1	1	1
PAGE5	90737	broad.mit.edu	37	X	55248301	55248301	+	Silent	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:55248301T>A	uc004duj.2	+	c.243T>A	c.(241-243)GCT>GCA	p.A81A	PAGE5_uc004duk.2_Silent_p.A61A	NM_130467	NP_569734	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 isoform 1	81											0														0.938272	279.55774	290.297997	76	5	KEEP	---	---	---	---	capture		Silent	SNP	55248301	55248301	11809	23	T	A	A	A	704	55	PAGE5	3	3
KLF8	11279	broad.mit.edu	37	X	56291790	56291790	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:56291790G>T	uc004dur.2	+	c.259G>T	c.(259-261)GTT>TTT	p.V87F	KLF8_uc010nkg.2_Missense_Mutation_p.V82F|KLF8_uc011mop.1_Missense_Mutation_p.V87F|KLF8_uc010nkh.2_Non-coding_Transcript	NM_007250	NP_009181	O95600	KLF8_HUMAN	Kruppel-like factor 8 isoform 1	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.395349	45.055048	45.470111	17	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56291790	56291790	8664	23	G	T	T	T	468	36	KLF8	2	2
NLGN4X	57502	broad.mit.edu	37	X	5821360	5821360	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:5821360G>T	uc010ndi.2	-	c.1470C>A	c.(1468-1470)GCC>GCA	p.A490A	NLGN4X_uc004crp.2_Silent_p.A473A|NLGN4X_uc010ndh.2_Silent_p.A453A|NLGN4X_uc004crq.2_Silent_p.A453A|NLGN4X_uc004crr.2_Silent_p.A453A|NLGN4X_uc010ndj.2_Silent_p.A453A	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	453	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity			large_intestine(1)|skin(1)	2														0.916667	35.414844	36.846383	11	1	KEEP	---	---	---	---	capture		Silent	SNP	5821360	5821360	10867	23	G	T	T	T	496	39	NLGN4X	1	1
NLGN4X	57502	broad.mit.edu	37	X	5827247	5827247	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:5827247C>A	uc010ndi.2	-	c.770G>T	c.(769-771)GGC>GTC	p.G257V	NLGN4X_uc004crp.2_Missense_Mutation_p.G240V|NLGN4X_uc010ndh.2_Missense_Mutation_p.G220V|NLGN4X_uc004crq.2_Missense_Mutation_p.G220V|NLGN4X_uc004crr.2_Missense_Mutation_p.G220V|NLGN4X_uc010ndj.2_Missense_Mutation_p.G220V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	220	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity			large_intestine(1)|skin(1)	2														0.953271	344.009479	354.72976	102	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5827247	5827247	10867	23	C	A	A	A	338	26	NLGN4X	2	2
NLGN4X	57502	broad.mit.edu	37	X	6069310	6069310	+	Silent	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:6069310G>T	uc010ndi.2	-	c.198C>A	c.(196-198)ATC>ATA	p.I66I	NLGN4X_uc004crp.2_Silent_p.I66I|NLGN4X_uc010ndh.2_Silent_p.I66I|NLGN4X_uc004crq.2_Silent_p.I66I|NLGN4X_uc004crr.2_Silent_p.I66I|NLGN4X_uc010ndj.2_Silent_p.I66I	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	66	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity			large_intestine(1)|skin(1)	2														0.504065	184.831612	184.833244	62	61	KEEP	---	---	---	---	capture		Silent	SNP	6069310	6069310	10867	23	G	T	T	T	421	33	NLGN4X	2	2
MTMR8	55613	broad.mit.edu	37	X	63565051	63565051	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63565051C>A	uc004dvs.2	-	c.739G>T	c.(739-741)GCC>TCC	p.A247S	MTMR8_uc011mou.1_Missense_Mutation_p.A247S|MTMR8_uc004dvt.1_Missense_Mutation_p.A247S	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	247	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4														0.934783	299.44969	313.983043	86	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63565051	63565051	10342	23	C	A	A	A	325	25	MTMR8	2	2
MSN	4478	broad.mit.edu	37	X	64956699	64956699	+	Silent	SNP	G	A	A	rs113359990		TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:64956699G>A	uc004dwf.2	+	c.1002G>A	c.(1000-1002)GAG>GAA	p.E334E		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	334					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(2)	8										172				0.088235	1.697569	7.525827	3	31	KEEP	---	---	---	---	capture		Silent	SNP	64956699	64956699	10278	23	G	A	A	A	425	33	MSN	2	2
HEPH	9843	broad.mit.edu	37	X	65486408	65486408	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65486408T>A	uc011moz.1	+	c.3380T>A	c.(3379-3381)CTG>CAG	p.L1127Q	HEPH_uc004dwn.2_Missense_Mutation_p.L1126Q|HEPH_uc004dwo.2_Missense_Mutation_p.L857Q|HEPH_uc010nkr.2_Missense_Mutation_p.L935Q|HEPH_uc011mpa.1_Missense_Mutation_p.L1127Q	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	1124	Helical; (Potential).				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.933702	612.933686	638.997612	169	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65486408	65486408	7337	23	T	A	A	A	715	55	HEPH	3	3
OPHN1	4983	broad.mit.edu	37	X	67283936	67283936	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:67283936T>A	uc004dww.3	-	c.1918A>T	c.(1918-1920)ATT>TTT	p.I640F	OPHN1_uc011mpg.1_Intron	NM_002547	NP_002538	O60890	OPHN1_HUMAN	oligophrenin 1	640	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			ovary(2)	2														0.484663	249.524843	249.557607	79	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67283936	67283936	11281	23	T	A	A	A	637	49	OPHN1	3	3
AWAT2	158835	broad.mit.edu	37	X	69264267	69264267	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69264267G>T	uc004dxt.1	-	c.131C>A	c.(130-132)CCA>CAA	p.P44Q		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	wax synthase 2	44	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity				0						NSCLC(80;1334 1436 9350 24214 26427)								0.5625	115.1048	115.322349	36	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69264267	69264267	1256	23	G	T	T	T	611	47	AWAT2	2	2
KIF4A	24137	broad.mit.edu	37	X	69640090	69640090	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69640090C>T	uc004dyg.2	+	c.3674C>T	c.(3673-3675)TCC>TTC	p.S1225F	KIF4A_uc010nkw.2_Missense_Mutation_p.S1225F|GDPD2_uc010nkx.1_5'Flank|GDPD2_uc010nky.1_5'Flank|GDPD2_uc004dyh.2_5'Flank|GDPD2_uc011mpk.1_5'Flank|GDPD2_uc011mpl.1_5'Flank|GDPD2_uc011mpm.1_5'Flank	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1225	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4														0.511628	65.74859	65.753827	22	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69640090	69640090	8614	23	C	T	T	T	390	30	KIF4A	2	2
MED12	9968	broad.mit.edu	37	X	70354970	70354970	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70354970G>T	uc004dyy.2	+	c.4892G>T	c.(4891-4893)AGT>ATT	p.S1631I	MED12_uc011mpq.1_Missense_Mutation_p.S1631I|MED12_uc004dyz.2_Missense_Mutation_p.S1631I|MED12_uc004dza.2_Missense_Mutation_p.S1478I|MED12_uc010nla.2_Missense_Mutation_p.S257I	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1631	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription mediator activity|thyroid hormone receptor binding|transcription activator activity|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)													0.920792	306.743577	324.787763	93	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70354970	70354970	9817	23	G	T	T	T	468	36	MED12	2	2
NLGN3	54413	broad.mit.edu	37	X	70389250	70389250	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:70389250G>A	uc004dzb.2	+	c.1790G>A	c.(1789-1791)CGG>CAG	p.R597Q	NLGN3_uc004dzc.2_Missense_Mutation_p.R480Q|NLGN3_uc011mps.1_Missense_Mutation_p.R577Q|NLGN3_uc004dze.2_Missense_Mutation_p.R415Q	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	617	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|regulation of synaptic transmission|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	carboxylesterase activity|protein binding|receptor activity			ovary(1)	1	Renal(35;0.156)					Esophageal Squamous(103;760 1488 16849 22250 40351)								0.571429	63.504577	63.660762	20	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70389250	70389250	10866	23	G	A	A	A	507	39	NLGN3	1	1
ZCCHC13	389874	broad.mit.edu	37	X	73524209	73524209	+	Silent	SNP	T	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73524209T>C	uc004ebs.3	+	c.108T>C	c.(106-108)TCT>TCC	p.S36S		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	36							nucleic acid binding|zinc ion binding				0														0.487805	67.306335	67.311285	20	21	KEEP	---	---	---	---	capture		Silent	SNP	73524209	73524209	18170	23	T	C	C	C	691	54	ZCCHC13	4	4
KIAA2022	340533	broad.mit.edu	37	X	73962657	73962657	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:73962657C>A	uc004eby.2	-	c.1735G>T	c.(1735-1737)GCC>TCC	p.A579S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	579					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				0.554286	308.287866	308.737007	97	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73962657	73962657	8580	23	C	A	A	A	325	25	KIAA2022	2	2
MAGEE1	57692	broad.mit.edu	37	X	75648955	75648955	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:75648955C>T	uc004ecm.1	+	c.632C>T	c.(631-633)TCC>TTC	p.S211F		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	211	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6														0.5	27.843403	27.843403	10	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75648955	75648955	9568	23	C	T	T	T	390	30	MAGEE1	2	2
TBX22	50945	broad.mit.edu	37	X	79286130	79286131	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:79286130_79286131GG>TT	uc010nmg.1	+	c.1083_1084GG>TT	c.(1081-1086)GAGGCA>GATTCA	p.361_362EA>DS	TBX22_uc004edi.1_Missense_Mutation_p.241_242EA>DS|TBX22_uc004edj.1_Missense_Mutation_p.361_362EA>DS	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	361_362					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity			large_intestine(3)|central_nervous_system(2)|lung(1)|ovary(1)	7										298				0.922078	233.425404	246.497558	71	6	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	79286130	79286131	16184	23	GG	TT	TT	TT	451	35	TBX22	2	2
HDX	139324	broad.mit.edu	37	X	83599427	83599427	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:83599427C>A	uc004eek.1	-	c.1491G>T	c.(1489-1491)ATG>ATT	p.M497I	HDX_uc011mqv.1_Missense_Mutation_p.M497I|HDX_uc004eel.1_Missense_Mutation_p.M439I	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	497	Homeobox 2.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						Pancreas(53;231 1169 36156 43751 51139)								0.843137	143.653694	149.380976	43	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83599427	83599427	7309	23	C	A	A	A	273	21	HDX	2	2
KLHL4	56062	broad.mit.edu	37	X	86877246	86877246	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:86877246C>A	uc004efa.2	+	c.960C>A	c.(958-960)TTC>TTA	p.F320L	KLHL4_uc004efb.2_Missense_Mutation_p.F320L	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 2	320						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5														0.432432	46.493465	46.640877	16	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86877246	86877246	8705	23	C	A	A	A	389	30	KLHL4	2	2
TGIF2LX	90316	broad.mit.edu	37	X	89177587	89177587	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:89177587C>A	uc004efe.2	+	c.503C>A	c.(502-504)TCA>TAA	p.S168*		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	168					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.916667	140.144302	147.863389	44	4	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	89177587	89177587	16355	23	C	A	A	A	377	29	TGIF2LX	5	2
PCDH11X	27328	broad.mit.edu	37	X	91090765	91090765	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91090765G>T	uc004efk.1	+	c.262G>T	c.(262-264)GGC>TGC	p.G88C	PCDH11X_uc004efl.1_Missense_Mutation_p.G88C|PCDH11X_uc004efo.1_Missense_Mutation_p.G88C|PCDH11X_uc010nmv.1_Missense_Mutation_p.G88C|PCDH11X_uc004efm.1_Missense_Mutation_p.G88C|PCDH11X_uc004efn.1_Missense_Mutation_p.G88C|PCDH11X_uc004efh.1_Missense_Mutation_p.G88C|PCDH11X_uc004efj.1_Missense_Mutation_p.G88C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	88	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.425743	262.559277	263.520352	86	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91090765	91090765	11928	23	G	T	T	T	611	47	PCDH11X	2	2
PCDH11X	27328	broad.mit.edu	37	X	91133250	91133250	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91133250C>A	uc004efk.1	+	c.2011C>A	c.(2011-2013)CCA>ACA	p.P671T	PCDH11X_uc004efl.1_Missense_Mutation_p.P671T|PCDH11X_uc004efo.1_Missense_Mutation_p.P671T|PCDH11X_uc010nmv.1_Missense_Mutation_p.P671T|PCDH11X_uc004efm.1_Missense_Mutation_p.P671T|PCDH11X_uc004efn.1_Missense_Mutation_p.P671T|PCDH11X_uc004efh.1_Missense_Mutation_p.P671T|PCDH11X_uc004efj.1_Missense_Mutation_p.P671T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	671	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.433628	149.361817	149.794656	49	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91133250	91133250	11928	23	C	A	A	A	234	18	PCDH11X	2	2
PCDH11X	27328	broad.mit.edu	37	X	91133253	91133253	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91133253G>A	uc004efk.1	+	c.2014G>A	c.(2014-2016)GTT>ATT	p.V672I	PCDH11X_uc004efl.1_Missense_Mutation_p.V672I|PCDH11X_uc004efo.1_Missense_Mutation_p.V672I|PCDH11X_uc010nmv.1_Missense_Mutation_p.V672I|PCDH11X_uc004efm.1_Missense_Mutation_p.V672I|PCDH11X_uc004efn.1_Missense_Mutation_p.V672I|PCDH11X_uc004efh.1_Missense_Mutation_p.V672I|PCDH11X_uc004efj.1_Missense_Mutation_p.V672I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	672	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.444444	153.2547	153.572717	52	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91133253	91133253	11928	23	G	A	A	A	468	36	PCDH11X	2	2
PCDH11X	27328	broad.mit.edu	37	X	91873626	91873626	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:91873626G>A	uc004efk.1	+	c.3731G>A	c.(3730-3732)TGC>TAC	p.C1244Y	PCDH11X_uc004efl.1_Missense_Mutation_p.C1234Y|PCDH11X_uc004efo.1_Missense_Mutation_p.C1207Y|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.C1236Y|PCDH11X_uc004efn.1_Missense_Mutation_p.C1226Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1244	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						NSCLC(38;925 1092 2571 38200 45895)								0.414894	319.587357	321.377158	117	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	91873626	91873626	11928	23	G	A	A	A	598	46	PCDH11X	2	2
NAP1L3	4675	broad.mit.edu	37	X	92927797	92927797	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:92927797C>G	uc004efq.2	-	c.507G>C	c.(505-507)GAG>GAC	p.E169D	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	169	Glu-rich.				nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2														0.375	78.921802	80.021983	30	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92927797	92927797	10554	23	C	G	G	G	311	24	NAP1L3	3	3
PCDH19	57526	broad.mit.edu	37	X	99551726	99551726	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:99551726G>T	uc010nmz.2	-	c.2996C>A	c.(2995-2997)GCT>GAT	p.A999D	PCDH19_uc004efw.3_Missense_Mutation_p.A951D|PCDH19_uc004efx.3_Missense_Mutation_p.A952D	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	999	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7														0.881188	290.136046	304.545109	89	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99551726	99551726	11934	23	G	T	T	T	442	34	PCDH19	2	2
TCERG1L	256536	broad.mit.edu	37	10	133058640	133058641	+	In_Frame_Ins	INS	-	GCG	GCG			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:133058640_133058641insGCG	uc001lkp.2	-	c.737_738insCGC	c.(736-738)GCT>GCCGCT	p.246_246A>AA	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	246	Poly-Ala.									large_intestine(2)|ovary(2)	4		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)					p.A247del(JHUEM1-Tumor)	800				0.50			4	4		---	---	---	---	capture_indel		In_Frame_Ins	INS	133058640	133058641	16212	10	-	GCG	GCG	GCG	80	7	TCERG1L	5	5
GALNTL4	374378	broad.mit.edu	37	11	11643002	11643002	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:11643002_11643002delC	uc001mjo.2	-	c.139_139delG	c.(139-141)GCGfs	p.A47fs		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	47	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding				0				all cancers(16;3.67e-05)|Epithelial(150;0.000184)										0.89			31	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	11643002	11643002	6487	11	C	-	-	-	338	26	GALNTL4	5	5
OR5D16	390144	broad.mit.edu	37	11	55606547	55606547	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55606547_55606547delG	uc010rio.1	+	c.320_320delG	c.(319-321)TGCfs	p.C107fs		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3		all_epithelial(135;0.208)												0.61			369	237		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	55606547	55606547	11566	11	G	-	-	-	598	46	OR5D16	5	5
OR5I1	10798	broad.mit.edu	37	11	55703382	55703382	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55703382_55703382delG	uc010ris.1	-	c.495_495delC	c.(493-495)GCCfs	p.A165fs		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.56			103	82		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	55703382	55703382	11574	11	G	-	-	-	444	35	OR5I1	5	5
NXF1	10482	broad.mit.edu	37	11	62571028	62571028	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62571028_62571028delG	uc009yog.1	-	c.361_361delC	c.(361-363)CGAfs	p.R121fs	NXF1_uc001nvf.1_Frame_Shift_Del_p.R78fs|NXF1_uc001nvg.1_Frame_Shift_Del_p.R78fs|NXF1_uc010rmh.1_Intron	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1 isoform 1	78	Interaction with THOC4.|Nuclear localization signal.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			skin(1)	1														0.70			173	74		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	62571028	62571028	11187	11	G	-	-	-	506	39	NXF1	5	5
PCNXL3	399909	broad.mit.edu	37	11	65387817	65387818	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65387817_65387818insC	uc001oey.2	+	c.2016_2017insC	c.(2014-2019)CGGCGTfs	p.R672fs		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	672_673						integral to membrane					0														0.40			10	15		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	65387817	65387818	12013	11	-	C	C	C	535	42	PCNXL3	5	5
SERPINH1	871	broad.mit.edu	37	11	75277761	75277762	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:75277761_75277762delGC	uc001owr.2	+	c.367_368delGC	c.(367-369)GCGfs	p.A123fs	SERPINH1_uc009yuf.2_Frame_Shift_Del_p.A123fs|SERPINH1_uc009yug.2_Frame_Shift_Del_p.A123fs|SERPINH1_uc001ows.2_Frame_Shift_Del_p.A123fs|SERPINH1_uc001owt.2_5'Flank	NM_001235	NP_001226	P50454	SERPH_HUMAN	serine (or cysteine) proteinase inhibitor, clade	123					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			ovary(2)	2	Ovarian(111;0.11)													0.33			12	24		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	75277761	75277762	14605	11	GC	-	-	-	546	42	SERPINH1	5	5
OVCH2	341277	broad.mit.edu	37	11	7722922	7722922	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7722922_7722922delC	uc010rbf.1	-	c.660_660delG	c.(658-660)GGGfs	p.G220fs		NM_198185	NP_937828			ovochymase 2 precursor												0				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)										0.43			28	37		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	7722922	7722922	11737	11	C	-	-	-	379	30	OVCH2	5	5
ZCCHC8	55596	broad.mit.edu	37	12	122968060	122968060	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:122968060_122968060delC	uc001ucn.2	-	c.552_552delG	c.(550-552)GGGfs	p.G184fs	ZCCHC8_uc001ucm.2_5'Flank|ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_Intron	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	184					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)										0.87			33	5		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	122968060	122968060	18182	12	C	-	-	-	327	26	ZCCHC8	5	5
IQSEC3	440073	broad.mit.edu	37	12	234956	234968	+	Frame_Shift_Del	DEL	AGGGCTGGCCCCC	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:234956_234968delAGGGCTGGCCCCC	uc001qht.1	+	c.127_139delAGGGCTGGCCCCC	c.(127-141)AGGGCTGGCCCCCAGfs	p.R43fs	IQSEC3_uc001qhu.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	261_265					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)										0.50			5	5		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	234956	234968	8122	12	AGGGCTGGCCCCC	-	-	-	36	3	IQSEC3	5	5
KIAA0748	9840	broad.mit.edu	37	12	55359857	55359857	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55359857_55359857delC	uc001sgn.3	-	c.426_426delG	c.(424-426)GGGfs	p.G142fs	KIAA0748_uc001sgl.3_Frame_Shift_Del_p.G4fs|KIAA0748_uc001sgm.3_5'UTR|KIAA0748_uc010spb.1_5'UTR|KIAA0748_uc010spc.1_Frame_Shift_Del_p.G4fs|KIAA0748_uc010spd.1_Frame_Shift_Del_p.G142fs|KIAA0748_uc001sgo.3_Non-coding_Transcript	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	142										ovary(1)|central_nervous_system(1)	2														0.51			78	74		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	55359857	55359857	8497	12	C	-	-	-	379	30	KIAA0748	5	5
SPATA13	221178	broad.mit.edu	37	13	24798263	24798264	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:24798263_24798264insG	uc001upd.1	+	c.1196_1197insG	c.(1195-1197)AAGfs	p.K399fs	C1QTNF9_uc001upe.2_Non-coding_Transcript|SPATA13_uc001upf.1_Frame_Shift_Ins_p.K399fs|SPATA13_uc001upg.1_Intron	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	Error:Variant_position_missing_in_Q96N96_after_alignment					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)										0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	24798263	24798264	15508	13	-	G	G	G	39	3	SPATA13	5	5
SIN3A	25942	broad.mit.edu	37	15	75684893	75684893	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:75684893_75684893delG	uc002bai.2	-	c.2541_2541delC	c.(2539-2541)GCCfs	p.A847fs	SIN3A_uc002baj.2_Frame_Shift_Del_p.A847fs|SIN3A_uc010uml.1_Frame_Shift_Del_p.A847fs	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	847	Interaction with NCOR1 (By similarity).				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														0.30			52	120		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	75684893	75684893	14820	15	G	-	-	-	600	47	SIN3A	5	5
EMP2	2013	broad.mit.edu	37	16	10626928	10626930	+	In_Frame_Del	DEL	GCC	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:10626928_10626930delGCC	uc002czx.2	-	c.336_338delGGC	c.(334-339)GCGGCC>GCC	p.112_113AA>A		NM_001424	NP_001415	P54851	EMP2_HUMAN	epithelial membrane protein 2	112_113	Helical; (Potential).				cell proliferation	integral to membrane					0						GBM(158;2021 2691 14714 39478)								0.47			28	32		---	---	---	---	capture_indel		In_Frame_Del	DEL	10626928	10626930	5295	16	GCC	-	-	-	546	42	EMP2	5	5
KCNJ12	3768	broad.mit.edu	37	17	21319123	21319124	+	Frame_Shift_Ins	INS	-	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:21319123_21319124insT	uc002gyv.1	+	c.469_470insT	c.(469-471)GTGfs	p.V157fs		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	157	Extracellular (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)	3				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)						Prostate(3;0.18)			0.33			16	33		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	21319123	21319124	8351	17	-	T	T	T	572	44	KCNJ12	5	5
TP53	7157	broad.mit.edu	37	17	7577156	7577156	+	Splice_Site_Del	DEL	C	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7577156_7577156delC	uc002gim.2	-	c.783_splice	c.e8-1	p.S261_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_Del_p.S261_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_Del_p.S129_splice|TP53_uc010cng.1_Splice_Site_Del_p.S129_splice|TP53_uc002gii.1_Splice_Site_Del_p.S129_splice|TP53_uc010cnh.1_Splice_Site_Del_p.S261_splice|TP53_uc010cni.1_Splice_Site_Del_p.S261_splice|TP53_uc002gij.2_Splice_Site_Del_p.S261_splice	NM_001126112	NP_001119584			tumor protein p53 isoform a						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.?(18)|p.0?(6)|p.E258fs*71(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	(NCIH1694-Tumor)|(HCC1195-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.98			41	1		---	---	---	---	capture_indel		Splice_Site_Del	DEL	7577156	7577156	16923	17	C	-	-	-	260	20	TP53	5	5
CARD14	79092	broad.mit.edu	37	17	78156517	78156517	+	Frame_Shift_Del	DEL	A	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:78156517_78156517delA	uc002jxw.1	+	c.277_277delA	c.(277-279)AAGfs	p.K93fs	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.2_Frame_Shift_Del_p.K93fs|CARD14_uc010wud.1_5'Flank	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	93	CARD.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)							565				0.38			34	56		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	78156517	78156517	2765	17	A	-	-	-	117	9	CARD14	5	5
PCSK4	54760	broad.mit.edu	37	19	1486857	1486857	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:1486857_1486857delG	uc002ltb.1	-	c.1063_1063delC	c.(1063-1065)CAGfs	p.Q355fs	PCSK4_uc002lsz.2_5'Flank|PCSK4_uc002lta.2_Frame_Shift_Del_p.Q167fs	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	355	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)										1.00			13	0		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	1486857	1486857	12023	19	G	-	-	-	611	47	PCSK4	5	5
ZNF99	7652	broad.mit.edu	37	19	22940021	22940021	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22940021_22940021delC	uc010xrh.1	-	c.2310_2310delG	c.(2308-2310)GGGfs	p.G770fs		NM_001080409	NP_001073878	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	770					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)												0.67			105	51		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	22940021	22940021	18808	19	C	-	-	-	379	30	ZNF99	5	5
MEGF8	1954	broad.mit.edu	37	19	42860558	42860559	+	Frame_Shift_Ins	INS	-	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42860558_42860559insT	uc002otl.3	+	c.4374_4375insT	c.(4372-4377)ATGTTTfs	p.M1458fs	MEGF8_uc002otm.3_Frame_Shift_Ins_p.M1066fs	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1525_1526	Extracellular (Potential).|Kelch 7.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.79			15	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	42860558	42860559	9852	19	-	T	T	T	624	48	MEGF8	5	5
ZNF428	126299	broad.mit.edu	37	19	44111923	44111923	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44111923_44111923delG	uc002oxa.2	-	c.413_413delC	c.(412-414)CCAfs	p.P138fs	SRRM5_uc002oxb.2_Intron	NM_182498	NP_872304	Q96B54	ZN428_HUMAN	zinc finger protein 428	138	Glu-rich.					intracellular	zinc ion binding				0		Prostate(69;0.0153)												0.96			45	2		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	44111923	44111923	18494	19	G	-	-	-	611	47	ZNF428	5	5
BAT2L2	23215	broad.mit.edu	37	1	171501704	171501704	+	Frame_Shift_Del	DEL	A	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:171501704_171501704delA	uc010pmg.1	+	c.1471_1471delA	c.(1471-1473)AAGfs	p.K491fs	BAT2L2_uc001ghr.1_Frame_Shift_Del_p.K493fs	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	491	Glu-rich.						protein C-terminus binding				0														0.65			30	16		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	171501704	171501704	1342	1	A	-	-	-	117	9	BAT2L2	5	5
RYR2	6262	broad.mit.edu	37	1	237993907	237993907	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237993907_237993907delG	uc001hyl.1	+	c.14733_14733delG	c.(14731-14733)CAGfs	p.Q4911fs	RYR2_uc010pyb.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4911					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)											0.47			420	481		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	237993907	237993907	14249	1	G	-	-	-	451	35	RYR2	5	5
FAM83C	128876	broad.mit.edu	37	20	33874994	33874995	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:33874994_33874995insG	uc010zux.1	-	c.1587_1588insC	c.(1585-1590)CCCAACfs	p.P529fs	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Frame_Shift_Ins_p.P184fs	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	529_530										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)											0.39			51	80		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	33874994	33874995	5861	20	-	G	G	G	819	63	FAM83C	5	5
PLXNA1	5361	broad.mit.edu	37	3	126722193	126722193	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:126722193_126722193delC	uc003ejg.2	+	c.1329_1329delC	c.(1327-1329)AACfs	p.N443fs		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	466	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(114;0.155)										0.40			8	12		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	126722193	126722193	12545	3	C	-	-	-	233	18	PLXNA1	5	5
CRIPAK	285464	broad.mit.edu	37	4	1389117	1389118	+	Frame_Shift_Ins	INS	-	AT	AT			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:1389117_1389118insAT	uc003gdf.2	+	c.818_819insAT	c.(817-819)ACGfs	p.T273fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	273	8.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)											0.31			15	33		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	1389117	1389118	4016	4	-	AT	AT	AT	247	19	CRIPAK	5	5
DDX60L	91351	broad.mit.edu	37	4	169296600	169296600	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169296600_169296600delC	uc003irq.3	-	c.4561_4561delG	c.(4561-4563)GCCfs	p.A1521fs		NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1521							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)										0.56			23	18		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	169296600	169296600	4550	4	C	-	-	-	325	25	DDX60L	5	5
FAM170A	340069	broad.mit.edu	37	5	118969680	118969680	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:118969680_118969680delC	uc003ksm.2	+	c.237_237delC	c.(235-237)AGCfs	p.S79fs	FAM170A_uc003ksl.2_Frame_Shift_Del_p.S79fs|FAM170A_uc003ksn.2_Frame_Shift_Del_p.S79fs|FAM170A_uc003kso.2_Frame_Shift_Del_p.S32fs	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	79						intracellular	zinc ion binding				0														0.36			45	80		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	118969680	118969680	5693	5	C	-	-	-	337	26	FAM170A	5	5
DPYS	1807	broad.mit.edu	37	8	105393457	105393457	+	Frame_Shift_Del	DEL	G	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:105393457_105393457delG	uc003yly.3	-	c.1529_1529delC	c.(1528-1530)ACAfs	p.T510fs	DPYS_uc010mcf.1_Frame_Shift_Del_p.T80fs	NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	510					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)											0.46			90	104		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	105393457	105393457	4930	8	G	-	-	-	624	48	DPYS	5	5
LYPD2	137797	broad.mit.edu	37	8	143833820	143833821	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:143833820_143833821delCC	uc003ywz.2	-	c.49_50delGG	c.(49-51)GGAfs	p.G17fs		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2 precursor	17						anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)													0.35			12	22		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	143833820	143833821	9487	8	CC	-	-	-	390	30	LYPD2	5	5
OR1B1	347169	broad.mit.edu	37	9	125391288	125391288	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:125391288_125391288delC	uc011lyz.1	-	c.527_527delG	c.(526-528)GGCfs	p.G176fs		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B,	176	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.36			50	87		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	125391288	125391288	11357	9	C	-	-	-	338	26	OR1B1	5	5
BCOR	54880	broad.mit.edu	37	X	39934292	39934293	+	Frame_Shift_Ins	INS	-	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:39934292_39934293insA	uc004den.3	-	c.306_307insT	c.(304-309)CGGGAGfs	p.R102fs	BCOR_uc004dep.3_Frame_Shift_Ins_p.R102fs|BCOR_uc004deo.3_Frame_Shift_Ins_p.R102fs|BCOR_uc004dem.3_Frame_Shift_Ins_p.R102fs|BCOR_uc004deq.3_Frame_Shift_Ins_p.R102fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	102_103					chromatin modification|heart development|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|odontogenesis|palate development|protein ubiquitination|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|promoter binding|transcription corepressor activity|transcription factor binding			ovary(2)|kidney(1)|central_nervous_system(1)	4														0.40			21	32		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	39934292	39934293	1407	23	-	A	A	A	390	30	BCOR	5	5
HDAC6	10013	broad.mit.edu	37	X	48676754	48676754	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48676754_48676754delC	uc011mmi.1	+	c.2122_2122delC	c.(2122-2124)CCCfs	p.P708fs	HDAC6_uc004dks.1_Frame_Shift_Del_p.P708fs|HDAC6_uc010nig.1_Frame_Shift_Del_p.P556fs|HDAC6_uc004dkt.1_Frame_Shift_Del_p.P708fs|HDAC6_uc011mmk.1_Frame_Shift_Del_p.P689fs|HDAC6_uc004dkv.1_Frame_Shift_Del_p.P356fs|HDAC6_uc004dkw.1_Frame_Shift_Del_p.P356fs|HDAC6_uc004dkx.1_5'Flank	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	708	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of hydrogen peroxide metabolic process|negative regulation of oxidoreductase activity|negative regulation of proteolysis|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of microtubule-based movement|regulation of receptor activity|regulation of transcription, DNA-dependent|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|specific transcriptional repressor activity|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)	3					Vorinostat(DB02546)	Pancreas(112;205 1675 2305 8976 15959)				170				0.94			46	3		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	48676754	48676754	7294	23	C	-	-	-	338	26	HDAC6	5	5
FGD1	2245	broad.mit.edu	37	X	54497147	54497148	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:54497147_54497148insG	uc004dtg.2	-	c.527_528insC	c.(526-528)CCAfs	p.P176fs	FGD1_uc011moi.1_5'Flank	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	176	SH3-binding (Potential).|Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|small GTPase binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6														0.33			4	8		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	54497147	54497148	6069	23	-	G	G	G	756	59	FGD1	5	5
NLGN4X	57502	broad.mit.edu	37	X	5811483	5811484	+	Frame_Shift_Ins	INS	-	T	T			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:5811483_5811484insT	uc010ndi.2	-	c.1936_1937insA	c.(1936-1938)ACAfs	p.T646fs	NLGN4X_uc004crp.2_Frame_Shift_Ins_p.T629fs|NLGN4X_uc010ndh.2_Frame_Shift_Ins_p.T609fs|NLGN4X_uc004crq.2_Frame_Shift_Ins_p.T609fs|NLGN4X_uc004crr.2_Frame_Shift_Ins_p.T609fs|NLGN4X_uc010ndj.2_Frame_Shift_Ins_p.T609fs	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	609	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|regulation of synaptic transmission|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	carboxylesterase activity|chloride ion binding|neurexin binding|protein homodimerization activity			large_intestine(1)|skin(1)	2														0.35			18	34		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	5811483	5811484	10867	23	-	T	T	T	624	48	NLGN4X	5	5
TGIF2LX	90316	broad.mit.edu	37	X	89177571	89177571	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:89177571_89177571delC	uc004efe.2	+	c.487_487delC	c.(487-489)CCAfs	p.P163fs		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	163					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.87			62	9		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	89177571	89177571	16355	23	C	-	-	-	338	26	TGIF2LX	5	5
NLGN4Y	22829	broad.mit.edu	37	Y	16952514	16952515	+	Frame_Shift_Ins	INS	-	A	A			TCGA-17-Z031-01	TCGA-17-Z031-01										Phase_I	Unspecified				Illumina GAIIx	g.chrY:16952514_16952515insA	uc011nas.1	+	c.1883_1884insA	c.(1882-1884)TCAfs	p.S628fs	NLGN4Y_uc004fte.2_Frame_Shift_Ins_p.S440fs|NLGN4Y_uc004ftg.2_Frame_Shift_Ins_p.S608fs|NLGN4Y_uc004ftf.2_Frame_Shift_Ins_p.S301fs|NLGN4Y_uc004fth.2_Frame_Shift_Ins_p.S608fs	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	608	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of synaptic transmission|social behavior|territorial aggressive behavior|vocalization behavior	integral to membrane|plasma membrane|synapse	carboxylesterase activity|protein binding				0														0.37			51	87		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	16952514	16952515	10868	24	-	A	A	A	377	29	NLGN4Y	5	5
