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
HPSE2	60495	broad.mit.edu	37	10	100995383	100995383	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:100995383G>A	uc001kpn.1	-	c.177C>T	c.(175-177)ACC>ACT	p.T59T	HPSE2_uc009xwc.1_Silent_p.T49T|HPSE2_uc001kpo.1_Silent_p.T49T|HPSE2_uc009xwd.1_Silent_p.T49T	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	heparanase 2	59					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			ovary(1)	1				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)										0.074324	-3.788738	51.430764	22	274	KEEP	---	---	---	---	capture		Silent	SNP	100995383	100995383	7637	10	G	A	A	A	548	43	HPSE2	2	2
SEC31B	25956	broad.mit.edu	37	10	102249904	102249904	+	Silent	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:102249904C>G	uc001krc.1	-	c.2826G>C	c.(2824-2826)CTG>CTC	p.L942L	SEC31B_uc010qpo.1_Silent_p.L941L|SEC31B_uc001krd.1_Silent_p.L479L|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	942	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)										0.043956	-11.278639	8.994142	4	87	KEEP	---	---	---	---	capture		Silent	SNP	102249904	102249904	14485	10	C	G	G	G	366	29	SEC31B	3	3
ABLIM1	3983	broad.mit.edu	37	10	116203832	116203832	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:116203832C>A	uc010qsg.1	-	c.1889G>T	c.(1888-1890)AGG>ATG	p.R630M	ABLIM1_uc010qsh.1_Missense_Mutation_p.R598M|ABLIM1_uc010qsi.1_Missense_Mutation_p.R570M|ABLIM1_uc010qsk.1_Missense_Mutation_p.R507M|ABLIM1_uc009xyp.2_Missense_Mutation_p.R594M|ABLIM1_uc010qsf.1_Missense_Mutation_p.R307M|ABLIM1_uc009xyn.2_Missense_Mutation_p.R246M|ABLIM1_uc010qsj.1_Missense_Mutation_p.R225M|ABLIM1_uc009xyo.2_Missense_Mutation_p.R443M	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	630					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)										0.048889	-28.962994	19.710811	11	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116203832	116203832	95	10	C	A	A	A	312	24	ABLIM1	2	2
FAM160B1	57700	broad.mit.edu	37	10	116608452	116608452	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:116608452G>T	uc001lcb.2	+	c.1759G>T	c.(1759-1761)GAG>TAG	p.E587*	FAM160B1_uc001lcc.2_Nonsense_Mutation_p.E587*	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	587										lung(1)	1														0.106383	2.340216	9.57616	5	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	116608452	116608452	5674	10	G	T	T	T	585	45	FAM160B1	5	2
PNLIPRP1	5407	broad.mit.edu	37	10	118355742	118355742	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:118355742C>A	uc001lco.1	+	c.482C>A	c.(481-483)CCC>CAC	p.P161H	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.P161H|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	161					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)										0.045181	-45.484787	27.866437	15	317	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118355742	118355742	12576	10	C	A	A	A	286	22	PNLIPRP1	2	2
PDZD8	118987	broad.mit.edu	37	10	119043973	119043973	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:119043973C>A	uc001lde.1	-	c.2271G>T	c.(2269-2271)CTG>CTT	p.L757L		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	757					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)										0.193548	39.894197	48.047958	18	75	KEEP	---	---	---	---	capture		Silent	SNP	119043973	119043973	12126	10	C	A	A	A	262	21	PDZD8	2	2
BUB3	9184	broad.mit.edu	37	10	124922239	124922239	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:124922239C>G	uc001lhe.2	+	c.866C>G	c.(865-867)ACT>AGT	p.T289S	BUB3_uc001lhf.3_Missense_Mutation_p.T289S|BUB3_uc001lhd.2_Missense_Mutation_p.T289S|BUB3_uc010qud.1_Missense_Mutation_p.T209S	NM_004725	NP_004716	O43684	BUB3_HUMAN	budding uninhibited by benzimidazoles 3 isoform	289					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			ovary(1)	1		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GBM(161;1111 1985 17553 20049 26037)								0.033333	-28.111719	14.642212	6	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124922239	124922239	1606	10	C	G	G	G	260	20	BUB3	3	3
FAM175B	23172	broad.mit.edu	37	10	126523082	126523082	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:126523082G>T	uc001lib.3	+	c.790G>T	c.(790-792)GCA>TCA	p.A264S		NM_032182	NP_115558	Q15018	F175B_HUMAN	hypothetical protein LOC23172	264	Potential.					BRISC complex	polyubiquitin binding				0														0.222222	30.929844	35.395604	14	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126523082	126523082	5704	10	G	T	T	T	546	42	FAM175B	2	2
STK32C	282974	broad.mit.edu	37	10	134059441	134059441	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:134059441T>A	uc010quu.1	-	c.320A>T	c.(319-321)CAG>CTG	p.Q107L	STK32C_uc001lld.1_5'UTR|STK32C_uc001lle.1_Missense_Mutation_p.Q94L|STK32C_uc009ybc.1_5'UTR|STK32C_uc009ybd.1_5'UTR|STK32C_uc001llc.1_Non-coding_Transcript	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	94	Protein kinase.				protein phosphorylation		ATP binding|metal ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(1)	3		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)						638				0.25	38.12298	41.304298	14	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134059441	134059441	15819	10	T	A	A	A	715	55	STK32C	3	3
PTF1A	256297	broad.mit.edu	37	10	23481584	23481584	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:23481584T>A	uc001irp.2	+	c.125T>A	c.(124-126)CTG>CAG	p.L42Q		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	42					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				pancreas(1)	1														0.093023	3.267299	10.430551	4	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23481584	23481584	13194	10	T	A	A	A	715	55	PTF1A	3	3
MYO3A	53904	broad.mit.edu	37	10	26357725	26357725	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:26357725G>T	uc001isn.2	+	c.1082G>T	c.(1081-1083)TGT>TTT	p.C361F	MYO3A_uc009xko.1_Missense_Mutation_p.C361F|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.C361F	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	361	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				0.029762	-30.583783	10.22189	5	163	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26357725	26357725	10471	10	G	T	T	T	624	48	MYO3A	2	2
ABI1	10006	broad.mit.edu	37	10	27048010	27048010	+	Silent	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:27048010T>A	uc001isx.2	-	c.1059A>T	c.(1057-1059)CCA>CCT	p.P353P	ABI1_uc001ite.2_Silent_p.P320P|ABI1_uc010qdh.1_Intron|ABI1_uc010qdi.1_Intron|ABI1_uc001isy.2_Silent_p.P326P|ABI1_uc001ita.2_Silent_p.P326P|ABI1_uc001isz.2_Silent_p.P321P|ABI1_uc001itb.2_Silent_p.P370P|ABI1_uc001itc.2_Silent_p.P325P|ABI1_uc010qdj.1_Intron|ABI1_uc001itd.2_Silent_p.P325P|ABI1_uc010qdk.1_Intron|ABI1_uc010qdg.1_Silent_p.P192P	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	353	Pro-rich.				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1										359				0.038168	-19.3234	10.87053	5	126	KEEP	---	---	---	---	capture		Silent	SNP	27048010	27048010	89	10	T	A	A	A	756	59	ABI1	3	3
RBP3	5949	broad.mit.edu	37	10	48389044	48389044	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48389044C>G	uc001jez.2	-	c.1834G>C	c.(1834-1836)GTG>CTG	p.V612L		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	612	4 X approximate tandem repeats.|2.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)									0.071429	-1.53777	9.05602	4	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48389044	48389044	13626	10	C	G	G	G	234	18	RBP3	3	3
GDF2	2658	broad.mit.edu	37	10	48414372	48414372	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:48414372G>A	uc001jfa.1	-	c.496C>T	c.(496-498)CTG>TTG	p.L166L		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	166					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)	2														0.042857	-8.838546	6.855244	3	67	KEEP	---	---	---	---	capture		Silent	SNP	48414372	48414372	6582	10	G	A	A	A	451	35	GDF2	2	2
CALML3	810	broad.mit.edu	37	10	5567336	5567336	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:5567336C>A	uc001iie.1	+	c.288C>A	c.(286-288)GAC>GAA	p.D96E		NM_005185	NP_005176	P27482	CALL3_HUMAN	calmodulin-like 3	96	EF-hand 3.|3.						calcium ion binding				0						Colon(173;2070 2647 27580 52203)								0.157895	6.313572	8.433036	3	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5567336	5567336	2704	10	C	A	A	A	246	19	CALML3	1	1
PCDH15	65217	broad.mit.edu	37	10	55996679	55996679	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:55996679G>T	uc010qhy.1	-	c.904C>A	c.(904-906)CCC>ACC	p.P302T	PCDH15_uc010qhq.1_Missense_Mutation_p.P302T|PCDH15_uc010qhr.1_Missense_Mutation_p.P297T|PCDH15_uc010qhs.1_Missense_Mutation_p.P302T|PCDH15_uc010qht.1_Missense_Mutation_p.P297T|PCDH15_uc010qhu.1_Missense_Mutation_p.P297T|PCDH15_uc001jjv.1_Missense_Mutation_p.P275T|PCDH15_uc010qhv.1_Missense_Mutation_p.P297T|PCDH15_uc010qhw.1_Missense_Mutation_p.P260T|PCDH15_uc010qhx.1_Missense_Mutation_p.P297T|PCDH15_uc010qhz.1_Missense_Mutation_p.P297T|PCDH15_uc010qia.1_Missense_Mutation_p.P275T|PCDH15_uc001jju.1_Missense_Mutation_p.P297T|PCDH15_uc010qib.1_Missense_Mutation_p.P275T|PCDH15_uc001jjw.2_Missense_Mutation_p.P297T	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-1 precursor	297	Cadherin 3.|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				0.074074	-3.044918	37.176841	16	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55996679	55996679	11931	10	G	T	T	T	559	43	PCDH15	2	2
C10orf18	54906	broad.mit.edu	37	10	5782212	5782212	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:5782212G>A	uc001iij.2	+	c.2079G>A	c.(2077-2079)GGG>GGA	p.G693G	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	693										ovary(1)|central_nervous_system(1)	2														0.028902	-33.231232	8.964769	5	168	KEEP	---	---	---	---	capture		Silent	SNP	5782212	5782212	1633	10	G	A	A	A	522	41	C10orf18	2	2
RHOBTB1	9886	broad.mit.edu	37	10	62632019	62632019	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:62632019C>A	uc001jli.2	-	c.1845G>T	c.(1843-1845)TGG>TGT	p.W615C	RHOBTB1_uc001jlh.2_Missense_Mutation_p.W615C|RHOBTB1_uc001jlj.2_Missense_Mutation_p.W615C|RHOBTB1_uc001jlk.2_Missense_Mutation_p.W615C|RHOBTB1_uc009xpe.1_Missense_Mutation_p.W553C|RHOBTB1_uc009xpd.2_Intron|RHOBTB1_uc001jll.2_Missense_Mutation_p.W365C	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	615					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding				0	Prostate(12;0.0112)													0.079646	-0.862707	19.470031	9	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62632019	62632019	13808	10	C	A	A	A	234	18	RHOBTB1	2	2
DNAJC12	56521	broad.mit.edu	37	10	69565369	69565369	+	Silent	SNP	T	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:69565369T>C	uc001jnb.2	-	c.474A>G	c.(472-474)TCA>TCG	p.S158S		NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	J domain containing protein 1 isoform a	158					protein folding		heat shock protein binding|unfolded protein binding				0														0.076205	-0.958855	117.399517	49	594	KEEP	---	---	---	---	capture		Silent	SNP	69565369	69565369	4814	10	T	C	C	C	704	55	DNAJC12	4	4
SGPL1	8879	broad.mit.edu	37	10	72614534	72614534	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72614534G>C	uc001jrm.2	+	c.331G>C	c.(331-333)GAG>CAG	p.E111Q		NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	111	Cytoplasmic (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)	Colon(151;1054 2458 6676 40971)								0.067278	-7.239161	56.222709	22	305	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72614534	72614534	14709	10	G	C	C	C	429	33	SGPL1	3	3
NOC3L	64318	broad.mit.edu	37	10	96099536	96099536	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:96099536G>T	uc001kjq.1	-	c.1922C>A	c.(1921-1923)TCA>TAA	p.S641*		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	641						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)												0.05618	-8.304305	10.130397	5	84	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	96099536	96099536	10917	10	G	T	T	T	585	45	NOC3L	5	2
ZNF518A	9849	broad.mit.edu	37	10	97919653	97919653	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:97919653G>T	uc001klp.2	+	c.3574G>T	c.(3574-3576)GCC>TCC	p.A1192S	ZNF518A_uc001klo.1_Missense_Mutation_p.A662S|ZNF518A_uc001klq.2_Missense_Mutation_p.A1192S|ZNF518A_uc001klr.2_Missense_Mutation_p.A1192S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)										0.037736	-16.595965	7.917926	4	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97919653	97919653	18556	10	G	T	T	T	598	46	ZNF518A	2	2
ANKRD2	26287	broad.mit.edu	37	10	99341096	99341096	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:99341096G>T	uc001knw.2	+	c.660G>T	c.(658-660)TGG>TGT	p.W220C	ANKRD2_uc009xvu.2_Missense_Mutation_p.W220C	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 isoform a	220	ANK 3.				muscle contraction|muscle organ development		structural constituent of muscle				0		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)										0.057971	-7.255341	6.903152	4	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99341096	99341096	651	10	G	T	T	T	559	43	ANKRD2	2	2
PPP2R1B	5519	broad.mit.edu	37	11	111636081	111636081	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:111636081A>G	uc001plw.1	-	c.142T>C	c.(142-144)TCA>CCA	p.S48P	PPP2R1B_uc010rwi.1_Intron|PPP2R1B_uc001plx.1_Missense_Mutation_p.S48P|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_Missense_Mutation_p.S48P|PPP2R1B_uc010rwl.1_Missense_Mutation_p.S48P	NM_181699	NP_859050	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	48	HEAT 1.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)										0.077922	1.476592	29.538486	12	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111636081	111636081	12819	11	A	G	G	G	156	12	PPP2R1B	4	4
DSCAML1	57453	broad.mit.edu	37	11	117302317	117302317	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117302317C>A	uc001prh.1	-	c.5487G>T	c.(5485-5487)GTG>GTT	p.V1829V		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1769	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)										0.090909	1.677601	18.461637	9	90	KEEP	---	---	---	---	capture		Silent	SNP	117302317	117302317	4953	11	C	A	A	A	262	21	DSCAML1	2	2
ABCG4	64137	broad.mit.edu	37	11	119027327	119027327	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:119027327G>T	uc001pvs.2	+	c.864G>T	c.(862-864)CTG>CTT	p.L288L	ABCG4_uc009zar.2_Silent_p.L288L	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	288	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)										0.133803	24.721562	43.208248	19	123	KEEP	---	---	---	---	capture		Silent	SNP	119027327	119027327	71	11	G	T	T	T	574	45	ABCG4	2	2
FAM118B	79607	broad.mit.edu	37	11	126110730	126110730	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:126110730G>T	uc009zca.2	+	c.142G>T	c.(142-144)GTG>TTG	p.V48L	FAM118B_uc001qdf.2_Missense_Mutation_p.V44L|FAM118B_uc001qdg.2_Missense_Mutation_p.V44L	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN	hypothetical protein LOC79607	44											0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)										0.096692	25.053718	89.135392	38	355	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126110730	126110730	5609	11	G	T	T	T	624	48	FAM118B	2	2
OPCML	4978	broad.mit.edu	37	11	132306643	132306643	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:132306643G>A	uc010sck.1	-	c.695C>T	c.(694-696)ACT>ATT	p.T232I	OPCML_uc001qgu.2_Missense_Mutation_p.T225I|OPCML_uc001qgs.2_Missense_Mutation_p.T232I|OPCML_uc001qgt.2_Missense_Mutation_p.T231I|OPCML_uc010scl.1_Missense_Mutation_p.T191I	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	232	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)	2	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)										0.058824	-5.660279	8.206323	4	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132306643	132306643	11280	11	G	A	A	A	468	36	OPCML	2	2
LDHA	3939	broad.mit.edu	37	11	18424404	18424404	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:18424404G>T	uc010rdd.1	+	c.523G>T	c.(523-525)GTG>TTG	p.V175L	LDHA_uc001mok.3_Missense_Mutation_p.V146L|LDHA_uc010rdc.1_Missense_Mutation_p.V88L|LDHA_uc009yhn.2_Missense_Mutation_p.V146L|LDHA_uc009yho.2_5'UTR|LDHA_uc001mol.3_Missense_Mutation_p.V146L	NM_005566	NP_005557	P00338	LDHA_HUMAN	lactate dehydrogenase A isoform 1	146					glycolysis|oxidation-reduction process|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)	3					NADH(DB00157)					124				0.042553	-17.655867	13.99189	6	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18424404	18424404	9022	11	G	T	T	T	520	40	LDHA	1	1
NAV2	89797	broad.mit.edu	37	11	20099583	20099583	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20099583G>T	uc001mpr.3	+	c.5112G>T	c.(5110-5112)AAG>AAT	p.K1704N	NAV2_uc001mpp.2_Missense_Mutation_p.K1640N|NAV2_uc010rdm.1_Missense_Mutation_p.K1760N|NAV2_uc001mpt.2_Missense_Mutation_p.K753N|NAV2_uc009yhx.2_Missense_Mutation_p.K768N|NAV2_uc009yhy.1_Missense_Mutation_p.K666N|NAV2_uc009yhz.2_Missense_Mutation_p.K349N|NAV2_uc001mpu.2_Missense_Mutation_p.K142N	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1760	Potential.					nucleus	ATP binding|helicase activity			ovary(1)|pancreas(1)	2														0.068182	-1.905131	6.57795	3	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20099583	20099583	10580	11	G	T	T	T	425	33	NAV2	2	2
NELL1	4745	broad.mit.edu	37	11	20982101	20982101	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20982101G>T	uc009yid.2	+	c.1379G>T	c.(1378-1380)TGT>TTT	p.C460F	NELL1_uc001mqe.2_Missense_Mutation_p.C432F|NELL1_uc001mqf.2_Missense_Mutation_p.C432F|NELL1_uc010rdo.1_Missense_Mutation_p.C375F|NELL1_uc010rdp.1_Missense_Mutation_p.C192F	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	432	EGF-like 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3														0.02994	-30.279235	10.235217	5	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20982101	20982101	10732	11	G	T	T	T	624	48	NELL1	2	2
NAP1L4	4676	broad.mit.edu	37	11	2979700	2979700	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:2979700C>A	uc010qxm.1	-	c.821G>T	c.(820-822)CGA>CTA	p.R274L	NAP1L4_uc009ydt.2_Non-coding_Transcript|NAP1L4_uc001lxc.2_Missense_Mutation_p.R274L|NAP1L4_uc010qxn.1_Missense_Mutation_p.R274L	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	274					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			ovary(1)	1		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)										0.077922	0.599898	14.615461	6	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2979700	2979700	10555	11	C	A	A	A	403	31	NAP1L4	1	1
DCDC1	341019	broad.mit.edu	37	11	31086700	31086700	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:31086700C>A	uc001msu.1	-	c.1156G>T	c.(1156-1158)GCT>TCT	p.A386S		DCDC5		P59894	DCDC1_HUMAN	SubName: Full=Putative uncharacterized protein ENSP00000343496;	Error:Variant_position_missing_in_P59894_after_alignment					intracellular signal transduction						0	Lung SC(675;0.225)													0.082192	0.61188	13.562135	6	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31086700	31086700	4455	11	C	A	A	A	326	26	DCDC1	2	2
PRR5L	79899	broad.mit.edu	37	11	36484285	36484285	+	Nonstop_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:36484285G>T	uc001mwo.3	+	c.1106G>T	c.(1105-1107)TGA>TTA	p.*369L	PRR5L_uc001mwp.2_Nonstop_Mutation_p.*369L|PRR5L_uc009ykk.2_Nonstop_Mutation_p.*241L|PRR5L_uc010rfc.1_3'UTR	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN	protor-2 isoform a	369										ovary(1)	1														0.071429	-1.310685	6.640206	3	39	KEEP	---	---	---	---	capture		Nonstop_Mutation	SNP	36484285	36484285	13051	11	G	T	T	T	581	45	PRR5L	5	2
CHST1	8534	broad.mit.edu	37	11	45671882	45671882	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:45671882G>T	uc001mys.1	-	c.592C>A	c.(592-594)CGC>AGC	p.R198S		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	198	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			pancreas(1)	1				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)										0.181818	8.633798	10.689957	4	18	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45671882	45671882	3531	11	G	T	T	T	507	39	CHST1	1	1
MAPK8IP1	9479	broad.mit.edu	37	11	45926567	45926567	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:45926567T>C	uc001nbr.2	+	c.1939T>C	c.(1939-1941)TGC>CGC	p.C647R		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	647	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(1)	1				GBM - Glioblastoma multiforme(35;0.231)										0.043478	-10.781814	9.765061	4	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45926567	45926567	9667	11	T	C	C	C	715	55	MAPK8IP1	4	4
OR51F2	119694	broad.mit.edu	37	11	4842727	4842727	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4842727C>A	uc010qyn.1	+	c.112C>A	c.(112-114)CAG>AAG	p.Q38K		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F,	38	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.065502	-25.089278	64.64637	30	428	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4842727	4842727	11507	11	C	A	A	A	273	21	OR51F2	2	2
OR51L1	119682	broad.mit.edu	37	11	5020793	5020793	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:5020793C>A	uc010qyu.1	+	c.581C>A	c.(580-582)GCC>GAC	p.A194D		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.053571	-16.658827	18.66376	9	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5020793	5020793	11512	11	C	A	A	A	338	26	OR51L1	2	2
OR5L1	219437	broad.mit.edu	37	11	55579402	55579402	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55579402G>T	uc001nhw.1	+	c.460G>T	c.(460-462)GTG>TTG	p.V154L		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	154	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		all_epithelial(135;0.208)												0.112554	22.410711	56.650769	26	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55579402	55579402	11580	11	G	T	T	T	572	44	OR5L1	2	2
OR5L1	219437	broad.mit.edu	37	11	55579854	55579854	+	Silent	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55579854G>C	uc001nhw.1	+	c.912G>C	c.(910-912)GTG>GTC	p.V304V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	304	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		all_epithelial(135;0.208)												0.052632	-3.425315	8.627788	3	54	KEEP	---	---	---	---	capture		Silent	SNP	55579854	55579854	11580	11	G	C	C	C	574	45	OR5L1	3	3
OR5D18	219438	broad.mit.edu	37	11	55587432	55587432	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55587432G>A	uc010rin.1	+	c.327G>A	c.(325-327)GTG>GTA	p.V109V		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)												0.036415	-58.443545	24.819067	13	344	KEEP	---	---	---	---	capture		Silent	SNP	55587432	55587432	11567	11	G	A	A	A	600	47	OR5D18	2	2
SPRYD5	84767	broad.mit.edu	37	11	55659052	55659052	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55659052C>A	uc010rip.1	+	c.1303C>A	c.(1303-1305)CCC>ACC	p.P435T	SPRYD5_uc010riq.1_Missense_Mutation_p.P292T	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	435	B30.2/SPRY.					intracellular	zinc ion binding				0		all_epithelial(135;0.226)												0.061224	-16.2359	32.973163	15	230	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55659052	55659052	15625	11	C	A	A	A	286	22	SPRYD5	2	2
OR8H3	390152	broad.mit.edu	37	11	55890175	55890175	+	Silent	SNP	T	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55890175T>C	uc001nii.1	+	c.327T>C	c.(325-327)ACT>ACC	p.T109T		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)													0.039049	-93.802011	41.361131	23	566	KEEP	---	---	---	---	capture		Silent	SNP	55890175	55890175	11650	11	T	C	C	C	704	55	OR8H3	4	4
CNGA4	1262	broad.mit.edu	37	11	6261622	6261622	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6261622G>T	uc001mco.2	+	c.598G>T	c.(598-600)GCA>TCA	p.A200S	CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.A160S	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	200	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)										0.071006	-2.527622	29.525952	12	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6261622	6261622	3737	11	G	T	T	T	494	38	CNGA4	1	1
PDE2A	5138	broad.mit.edu	37	11	72297215	72297215	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:72297215C>A	uc010rrc.1	-	c.1081G>T	c.(1081-1083)GAG>TAG	p.E361*	PDE2A_uc001oso.2_Nonsense_Mutation_p.E340*|PDE2A_uc010rra.1_Nonsense_Mutation_p.E354*|PDE2A_uc001osn.2_Nonsense_Mutation_p.E105*|PDE2A_uc010rrb.1_Nonsense_Mutation_p.E352*|PDE2A_uc010rrd.1_Nonsense_Mutation_p.E246*	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	361	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)							OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.096774	2.403828	7.452575	3	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72297215	72297215	12057	11	C	A	A	A	403	31	PDE2A	5	1
DLG2	1740	broad.mit.edu	37	11	84245668	84245668	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:84245668G>A	uc001pak.2	-	c.464C>T	c.(463-465)TCT>TTT	p.S155F	DLG2_uc001paj.2_Missense_Mutation_p.S50F|DLG2_uc010rsz.1_Missense_Mutation_p.S50F|DLG2_uc010rta.1_Missense_Mutation_p.S50F|DLG2_uc001pal.1_Missense_Mutation_p.S50F	NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	chapsyn-110 isoform 1	50						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)	5		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)												0.09417	14.992944	51.903872	21	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84245668	84245668	4735	11	G	A	A	A	429	33	DLG2	2	2
CLEC1B	51266	broad.mit.edu	37	12	10149523	10149523	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:10149523G>T	uc001qwu.2	-	c.360C>A	c.(358-360)AAC>AAA	p.N120K	CLEC1B_uc009zhd.2_Missense_Mutation_p.N87K	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B isoform	120	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity				0														0.119342	38.886159	73.47793	29	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10149523	10149523	3643	12	G	T	T	T	464	36	CLEC1B	2	2
FZD10	11211	broad.mit.edu	37	12	130648340	130648340	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:130648340G>T	uc001uii.2	+	c.853G>T	c.(853-855)GCC>TCC	p.A285S		NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	285	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)										0.072727	-0.039055	10.284898	4	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	130648340	130648340	6380	12	G	T	T	T	494	38	FZD10	1	1
RERGL	79785	broad.mit.edu	37	12	18237551	18237551	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:18237551C>A	uc001rdq.2	-	c.235G>T	c.(235-237)GGG>TGG	p.G79W	RERGL_uc001rdr.2_Missense_Mutation_p.G78W	NM_024730	NP_079006	Q9H628	RERGL_HUMAN	RERG/RAS-like	79	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity				0														0.093567	11.143914	39.474366	16	155	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18237551	18237551	13702	12	C	A	A	A	273	21	RERGL	2	2
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398284C>A	uc001rgp.1	-	c.35G>T	c.(34-36)GGT>GTT	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(6894)|p.G12V(4601)|p.G12A(1119)|p.G12?(50)|p.G12F(33)|p.G12N(6)|p.G12L(5)|p.G12C(4)|p.G12I(3)|p.G12W(3)|p.G12E(2)|p.G12Y(2)|p.G12fs*3(1)|p.G12S(1)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	p.G12D(SNU1197-Tumor)|p.G12D(HEC1A-Tumor)|p.G12D(SKLU1-Tumor)|p.G12D(GP2D-Tumor)|p.G12A(MM1S-Tumor)|p.G12D(HCC1588-Tumor)|p.G12D(SNUC2A-Tumor)|p.G12D(SNU1033-Tumor)|p.G12A(KPNSI9S-Tumor)|p.G12A(NCIH1573-Tumor)|p.G12D(KARPAS620-Tumor)|p.G12D(KP1NL-Tumor)|p.G12D(MCAS-Tumor)|p.G12D(HPAFII-Tumor)|p.G12D(PANC04.03-Tumor)|p.G12D(PANC10.05-Tumor)|p.G12D(TGBC11TKB-Tumor)|p.G12D(LS513-Tumor)|p.G12D(SW1990-Tumor)|p.G12D(SNU601-Tumor)|p.G12A(COLO775-Tumor)|p.G12D(ASPC1-Tumor)|p.G12A(SW1116-Tumor)|p.G12D(CL40-Tumor)|p.G12D(HEC1B-Tumor)|p.G12D(LS180-Tumor)|p.G12D(HEYA8-Tumor)|p.G12D(KP1N-Tumor)|p.G12D(PK1-Tumor)|p.G12D(SU.86.86-Tumor)|p.G12A(RERFLCAD1-Tumor)|p.G12D(PANC08.13-Tumor)|p.G12D(HEC50B-Tumor)|p.G12A(NCIH2009-Tumor)|p.G12D(639V-Tumor)|p.G12D(SNU410-Tumor)|p.G12D(L3.3-Tumor)|p.G12D(SNU407-Tumor)|p.G12A(KMS28BM-Tumor)|p.G12D(PK59-Tumor)|p.G12V(SH10TC-Tumor)|p.G12D(PK45H-Tumor)|p.G12D(GSU-Tumor)|p.G12D(SNU869-Tumor)|p.G12D(HUCCT1-Tumor)|p.G12D(NCIH684-Tumor)|p.G12D(KP4-Tumor)|p.G12D(PANC02.03-Tumor)|p.G12A(RPMI8226-Tumor)|p.G12V(PANC03.27-Tumor)|p.G12D(SNU1-Tumor)|p.G12D(AGS-Tumor)|p.G12D(SNU8-Tumor)|p.G12D(T3M10-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.16129	7.642436	11.051051	5	26	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398284	25398284	8753	12	C	A	A	A	234	18	KRAS	2	2
CAPRIN2	65981	broad.mit.edu	37	12	30879010	30879010	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:30879010C>A	uc001rji.1	-	c.1795G>T	c.(1795-1797)GTG>TTG	p.V599L	CAPRIN2_uc001rjf.1_Missense_Mutation_p.V396L|CAPRIN2_uc001rjg.1_Missense_Mutation_p.V266L|CAPRIN2_uc001rjh.1_Missense_Mutation_p.V599L|CAPRIN2_uc001rjj.1_Missense_Mutation_p.V266L|CAPRIN2_uc001rjk.3_Missense_Mutation_p.V599L|CAPRIN2_uc001rjl.3_Missense_Mutation_p.V599L|CAPRIN2_uc001rjm.1_Missense_Mutation_p.V266L	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	599					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)													0.1	8.304832	22.691055	9	81	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30879010	30879010	2755	12	C	A	A	A	221	17	CAPRIN2	2	2
BICD1	636	broad.mit.edu	37	12	32447000	32447000	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:32447000C>A	uc001rku.2	+	c.499C>A	c.(499-501)CGG>AGG	p.R167R	BICD1_uc001rkv.2_Silent_p.R167R|BICD1_uc010skd.1_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	167	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)											0.107692	6.772947	16.716169	7	58	KEEP	---	---	---	---	capture		Silent	SNP	32447000	32447000	1453	12	C	A	A	A	243	19	BICD1	1	1
RAD51AP1	10635	broad.mit.edu	37	12	4662313	4662313	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:4662313G>T	uc001qmw.2	+	c.772G>T	c.(772-774)GTG>TTG	p.V258L	RAD51AP1_uc001qmu.2_Missense_Mutation_p.V241L|RAD51AP1_uc001qmv.2_Missense_Mutation_p.V204L|RAD51AP1_uc010sep.1_Missense_Mutation_p.V123L|RAD51AP1_uc010seq.1_Missense_Mutation_p.V123L|RAD51AP1_uc009zeg.2_Non-coding_Transcript	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	258					double-strand break repair via homologous recombination	nucleus	double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)											0.126582	15.291792	26.041909	10	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	4662313	4662313	13446	12	G	T	T	T	559	43	RAD51AP1	2	2
OR6C4	341418	broad.mit.edu	37	12	55945335	55945335	+	Nonsense_Mutation	SNP	G	T	T	rs78982301	byFrequency;by1000genomes	TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:55945335G>T	uc010spp.1	+	c.325G>T	c.(325-327)GAG>TAG	p.E109*		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C,	109	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.063694	-8.818422	22.226226	10	147	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	55945335	55945335	11603	12	G	T	T	T	481	37	OR6C4	5	1
E2F7	144455	broad.mit.edu	37	12	77449706	77449706	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:77449706C>A	uc001sym.3	-	c.298G>T	c.(298-300)GAC>TAC	p.D100Y	E2F7_uc001syn.2_Missense_Mutation_p.D100Y	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	100					cell cycle|regulation of transcription, DNA-dependent	transcription factor complex	DNA binding|identical protein binding			ovary(1)|kidney(1)	2														0.06422	-15.797442	27.235097	14	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77449706	77449706	5058	12	C	A	A	A	390	30	E2F7	2	2
LRRIQ1	84125	broad.mit.edu	37	12	85450741	85450741	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:85450741A>T	uc001tac.2	+	c.2170A>T	c.(2170-2172)AGC>TGC	p.S724C	LRRIQ1_uc001tab.1_Missense_Mutation_p.S724C|LRRIQ1_uc001taa.1_Missense_Mutation_p.S699C	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	724										ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(134;0.212)										0.038206	-92.089681	46.700293	23	579	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	85450741	85450741	9405	12	A	T	T	T	195	15	LRRIQ1	3	3
CLEC6A	93978	broad.mit.edu	37	12	8610547	8610547	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:8610547G>C	uc001qum.1	+	c.85G>C	c.(85-87)GCA>CCA	p.A29P		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	dectin-2	29	Helical; Signal-anchor for type II membrane protein; (Potential).				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)													0.123288	11.430665	21.561441	9	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8610547	8610547	3658	12	G	C	C	C	598	46	CLEC6A	3	3
PLXNC1	10154	broad.mit.edu	37	12	94641809	94641809	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:94641809A>T	uc001tdc.2	+	c.2519A>T	c.(2518-2520)TAT>TTT	p.Y840F		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	840	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3														0.043478	-16.01826	9.663074	5	110	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94641809	94641809	12552	12	A	T	T	T	208	16	PLXNC1	3	3
C12orf63	374467	broad.mit.edu	37	12	97114182	97114182	+	Splice_Site_SNP	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:97114182G>T	uc001tet.1	+	c.2080_splice	c.e17-1	p.S694_splice		NM_198520	NP_940922			hypothetical protein LOC374467											ovary(1)	1														0.078947	1.187604	14.949473	6	70	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	97114182	97114182	1750	12	G	T	T	T	468	36	C12orf63	5	2
KBTBD6	89890	broad.mit.edu	37	13	41705565	41705565	+	Silent	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:41705565T>A	uc001uxu.1	-	c.1083A>T	c.(1081-1083)CCA>CCT	p.P361P	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Silent_p.P295P	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	361							protein binding			ovary(1)	1		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)										0.059211	-9.348605	21.561392	9	143	KEEP	---	---	---	---	capture		Silent	SNP	41705565	41705565	8302	13	T	A	A	A	652	51	KBTBD6	3	3
TBC1D4	9882	broad.mit.edu	37	13	75936627	75936627	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:75936627C>A	uc001vjl.1	-	c.615G>T	c.(613-615)CTG>CTT	p.L205L	TBC1D4_uc010aer.2_Silent_p.L205L|TBC1D4_uc010aes.2_Silent_p.L205L	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	205	PID 1.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)	5		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)										0.106383	38.402025	88.99644	35	294	KEEP	---	---	---	---	capture		Silent	SNP	75936627	75936627	16148	13	C	A	A	A	210	17	TBC1D4	2	2
RNF219	79596	broad.mit.edu	37	13	79190730	79190730	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:79190730G>C	uc001vkw.1	-	c.1166C>G	c.(1165-1167)CCT>CGT	p.P389R	RNF219_uc010afb.1_Missense_Mutation_p.P199R|RNF219_uc010afc.2_Intron	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	ring finger protein 219	389							zinc ion binding			large_intestine(2)	2		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)										0.092896	11.151484	41.650533	17	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79190730	79190730	13960	13	G	C	C	C	455	35	RNF219	3	3
AHNAK2	113146	broad.mit.edu	37	14	105412404	105412404	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105412404G>T	uc010axc.1	-	c.9384C>A	c.(9382-9384)GAC>GAA	p.D3128E	AHNAK2_uc001ypx.2_Missense_Mutation_p.D3028E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3128						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)											0.074689	-5.125961	39.519517	18	223	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105412404	105412404	418	14	G	T	T	T	568	44	AHNAK2	2	2
AHNAK2	113146	broad.mit.edu	37	14	105420209	105420209	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:105420209G>T	uc010axc.1	-	c.1579C>A	c.(1579-1581)CTG>ATG	p.L527M	AHNAK2_uc001ypx.2_Missense_Mutation_p.L427M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	527						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)											0.045113	-18.066655	11.354694	6	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105420209	105420209	418	14	G	T	T	T	451	35	AHNAK2	2	2
OR4Q3	441669	broad.mit.edu	37	14	20215964	20215964	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20215964C>A	uc010tkt.1	+	c.378C>A	c.(376-378)GCC>GCA	p.A126A		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	126	Cytoplasmic (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)										0.046875	-15.438274	12.553024	6	122	KEEP	---	---	---	---	capture		Silent	SNP	20215964	20215964	11491	14	C	A	A	A	262	21	OR4Q3	2	2
OR4N5	390437	broad.mit.edu	37	14	20612538	20612538	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20612538T>A	uc010tla.1	+	c.644T>A	c.(643-645)CTG>CAG	p.L215Q		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)										0.154321	48.068886	66.571601	25	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20612538	20612538	11489	14	T	A	A	A	715	55	OR4N5	3	3
NID2	22795	broad.mit.edu	37	14	52508829	52508829	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52508829G>A	uc001wzo.2	-	c.1819C>T	c.(1819-1821)CTC>TTC	p.L607F	NID2_uc010tqs.1_Missense_Mutation_p.L607F|NID2_uc010tqt.1_Missense_Mutation_p.L607F|NID2_uc001wzp.2_Missense_Mutation_p.L607F	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	607	Nidogen G2 beta-barrel.				bioluminescence|protein-chromophore linkage	basement membrane|membrane	calcium ion binding|collagen binding			breast(2)|pancreas(2)|ovary(1)|liver(1)	6	Breast(41;0.0639)|all_epithelial(31;0.123)													0.032258	-21.409878	8.239913	4	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52508829	52508829	10816	14	G	A	A	A	455	35	NID2	2	2
CHSY1	22856	broad.mit.edu	37	15	101717776	101717776	+	Silent	SNP	T	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:101717776T>G	uc002bwt.1	-	c.2226A>C	c.(2224-2226)GTA>GTC	p.V742V	CHSY1_uc010usd.1_Silent_p.V470V	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	742	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity				0	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)											0.04902	-11.005191	11.027099	5	97	KEEP	---	---	---	---	capture		Silent	SNP	101717776	101717776	3546	15	T	G	G	G	678	53	CHSY1	4	4
MKRN3	7681	broad.mit.edu	37	15	23811793	23811793	+	Silent	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23811793C>T	uc001ywh.3	+	c.864C>T	c.(862-864)GCC>GCT	p.A288A	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.A288A	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	288	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(2)	4		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)						79				0.107692	8.878779	18.797299	7	58	KEEP	---	---	---	---	capture		Silent	SNP	23811793	23811793	9998	15	C	T	T	T	301	24	MKRN3	2	2
C15orf2	23742	broad.mit.edu	37	15	24921956	24921956	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:24921956C>A	uc001ywo.2	+	c.942C>A	c.(940-942)AGC>AGA	p.S314R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	314	Pro-rich.				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				0.052632	-5.420062	6.630043	3	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24921956	24921956	1834	15	C	A	A	A	350	27	C15orf2	1	1
TJP1	7082	broad.mit.edu	37	15	30024963	30024963	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:30024963C>A	uc010azl.2	-	c.1757G>T	c.(1756-1758)CGT>CTT	p.R586L	TJP1_uc001zcq.2_Missense_Mutation_p.R602L|TJP1_uc001zcr.2_Missense_Mutation_p.R598L|TJP1_uc001zcs.2_Missense_Mutation_p.R598L	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	598	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|pancreas(1)	5		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		Melanoma(77;681 1843 6309 6570)								0.081967	1.044939	11.878913	5	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30024963	30024963	16458	15	C	A	A	A	247	19	TJP1	1	1
TRPM1	4308	broad.mit.edu	37	15	31294304	31294304	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:31294304G>T	uc001zfm.2	-	c.4533C>A	c.(4531-4533)GTC>GTA	p.V1511V	TRPM1_uc010azy.2_Silent_p.V1418V|TRPM1_uc001zfl.2_Non-coding_Transcript	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1511	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		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)										0.06576	-23.968387	62.323142	29	412	KEEP	---	---	---	---	capture		Silent	SNP	31294304	31294304	17136	15	G	T	T	T	470	37	TRPM1	1	1
RYR3	6263	broad.mit.edu	37	15	33926871	33926871	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:33926871C>A	uc001zhi.2	+	c.3112C>A	c.(3112-3114)CGG>AGG	p.R1038R	RYR3_uc010bar.2_Silent_p.R1038R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1038	2.|B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)										0.061947	-8.78	13.925279	7	106	KEEP	---	---	---	---	capture		Silent	SNP	33926871	33926871	14250	15	C	A	A	A	347	27	RYR3	1	1
AQR	9716	broad.mit.edu	37	15	35198869	35198869	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:35198869T>C	uc001ziv.2	-	c.1708A>G	c.(1708-1710)ACA>GCA	p.T570A		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	570					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)										0.033333	-20.204224	8.297897	4	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35198869	35198869	846	15	T	C	C	C	767	59	AQR	4	4
SHC4	399694	broad.mit.edu	37	15	49135746	49135746	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:49135746G>T	uc001zxb.1	-	c.1343C>A	c.(1342-1344)ACC>AAC	p.T448N	SHC4_uc010uey.1_Missense_Mutation_p.T205N|SHC4_uc010uez.1_Missense_Mutation_p.T162N	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	448	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)										0.03125	-22.09845	8.683038	4	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49135746	49135746	14765	15	G	T	T	T	572	44	SHC4	2	2
CHD2	1106	broad.mit.edu	37	15	93496623	93496623	+	Silent	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:93496623A>T	uc002bsp.2	+	c.1539A>T	c.(1537-1539)CTA>CTT	p.L513L	CHD2_uc002bso.1_Silent_p.L513L	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	513	ATP (Potential).|Helicase ATP-binding.				chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding			ovary(1)	1	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)											0.054687	-12.380387	14.359294	7	121	KEEP	---	---	---	---	capture		Silent	SNP	93496623	93496623	3459	15	A	T	T	T	184	15	CHD2	3	3
TSC2	7249	broad.mit.edu	37	16	2122317	2122317	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:2122317A>T	uc002con.2	+	c.2173A>T	c.(2173-2175)ACT>TCT	p.T725S	TSC2_uc010bsd.2_Missense_Mutation_p.T725S|TSC2_uc002coo.2_Missense_Mutation_p.T725S|TSC2_uc010uvv.1_Missense_Mutation_p.T688S|TSC2_uc010uvw.1_Missense_Mutation_p.T676S|TSC2_uc002cop.2_Missense_Mutation_p.T525S	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	725					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)								1098				0.033557	-26.225054	9.092563	5	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2122317	2122317	17157	16	A	T	T	T	182	14	TSC2	3	3
GTF3C1	2975	broad.mit.edu	37	16	27492447	27492447	+	Silent	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:27492447C>T	uc002dov.1	-	c.4149G>A	c.(4147-4149)AGG>AGA	p.R1383R	GTF3C1_uc002dou.2_Silent_p.R1383R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1383					5S class rRNA transcription from RNA polymerase III type 1 promoter|tRNA transcription from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|breast(1)|pancreas(1)	4														0.053435	-12.653602	14.886587	7	124	KEEP	---	---	---	---	capture		Silent	SNP	27492447	27492447	7152	16	C	T	T	T	389	30	GTF3C1	2	2
ITGAX	3687	broad.mit.edu	37	16	31384712	31384712	+	Splice_Site_SNP	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31384712G>T	uc002ebt.2	+	c.2508_splice	c.e20+1	p.Q836_splice	ITGAX_uc002ebu.1_Splice_Site_SNP_p.Q836_splice	NM_000887	NP_000878			integrin alpha X precursor						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														0.05	-7.767834	9.414082	4	76	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	31384712	31384712	8193	16	G	T	T	T	572	44	ITGAX	5	2
ABCC11	85320	broad.mit.edu	37	16	48210974	48210974	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:48210974C>A	uc002eff.1	-	c.3399G>T	c.(3397-3399)CAG>CAT	p.Q1133H	ABCC11_uc002efg.1_Missense_Mutation_p.Q1133H|ABCC11_uc002efh.1_Missense_Mutation_p.Q1133H|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	1133	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)												0.070175	-4.155824	6.757462	4	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48210974	48210974	52	16	C	A	A	A	311	24	ABCC11	2	2
CDH11	1009	broad.mit.edu	37	16	65005896	65005896	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:65005896A>C	uc002eoi.2	-	c.1462T>G	c.(1462-1464)TTT>GTT	p.F488V	CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.F488V|CDH11_uc010vin.1_Missense_Mutation_p.F362V	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	488	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(7)|ovary(2)	9		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)						239	TSP Lung(24;0.17)			0.053571	-5.223166	6.559973	3	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65005896	65005896	3226	16	A	C	C	C	26	2	CDH11	4	4
ZNF23	7571	broad.mit.edu	37	16	71482488	71482488	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71482488C>A	uc002fai.2	-	c.1557G>T	c.(1555-1557)GAG>GAT	p.E519D	ZNF23_uc002fad.2_Missense_Mutation_p.E422D|ZNF23_uc002fae.2_Missense_Mutation_p.E422D|ZNF23_uc002faf.2_Missense_Mutation_p.E480D|ZNF23_uc010vmf.1_Missense_Mutation_p.E422D|ZNF23_uc002fag.2_Missense_Mutation_p.E422D|ZNF23_uc002fah.2_Missense_Mutation_p.E480D	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	480	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)										0.068966	-6.513966	15.8503	8	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71482488	71482488	18374	16	C	A	A	A	259	20	ZNF23	2	2
TCF25	22980	broad.mit.edu	37	16	89967042	89967042	+	Splice_Site_SNP	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:89967042G>T	uc002fpb.2	+	c.1222_splice	c.e12-1	p.A408_splice	TCF25_uc002fpc.2_Splice_Site_SNP_p.A173_splice	NM_014972	NP_055787			NULP1						heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)										0.065421	-6.453664	14.521549	7	100	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	89967042	89967042	16219	16	G	T	T	T	455	35	TCF25	5	2
GRIN2A	2903	broad.mit.edu	37	16	9943738	9943738	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:9943738C>A	uc002czo.3	-	c.1203G>T	c.(1201-1203)CCG>CCT	p.P401P	GRIN2A_uc010uym.1_Silent_p.P401P|GRIN2A_uc010uyn.1_Silent_p.P244P|GRIN2A_uc002czr.3_Silent_p.P401P	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	401	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)					324				0.046512	-15.154235	13.130173	6	123	KEEP	---	---	---	---	capture		Silent	SNP	9943738	9943738	7058	16	C	A	A	A	288	23	GRIN2A	1	1
PRPF8	10594	broad.mit.edu	37	17	1579293	1579293	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:1579293C>A	uc002fte.2	-	c.2608G>T	c.(2608-2610)GCC>TCC	p.A870S		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	870					nuclear mRNA splicing, via spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			ovary(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)										0.107692	4.393969	14.391918	7	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1579293	1579293	13018	17	C	A	A	A	338	26	PRPF8	2	2
TRPV2	51393	broad.mit.edu	37	17	16326965	16326965	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:16326965T>C	uc002gpy.2	+	c.808T>C	c.(808-810)TAT>CAT	p.Y270H	TRPV2_uc002gpz.2_Intron	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	270	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).|ANK 5.				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)										0.094595	6.779736	18.985013	7	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16326965	16326965	17147	17	T	C	C	C	741	57	TRPV2	4	4
CCT6B	10693	broad.mit.edu	37	17	33288403	33288403	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33288403T>C	uc002hig.2	-	c.10A>G	c.(10-12)ATA>GTA	p.I4V	CCT6B_uc010ctg.2_Missense_Mutation_p.I4V|CCT6B_uc010wcc.1_Missense_Mutation_p.I4V|ZNF830_uc002hih.3_5'Flank	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	4					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)												0.175439	24.116294	29.776571	10	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33288403	33288403	3085	17	T	C	C	C	650	50	CCT6B	4	4
WIPF2	147179	broad.mit.edu	37	17	38416822	38416822	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:38416822G>T	uc002hug.1	+	c.99G>T	c.(97-99)GAG>GAT	p.E33D	WIPF2_uc010cwv.1_Missense_Mutation_p.E33D|WIPF2_uc002huh.1_5'UTR|WIPF2_uc010cww.1_5'UTR|WIPF2_uc002hui.1_Missense_Mutation_p.E33D|WIPF2_uc010cwx.1_Missense_Mutation_p.E33D|WIPF2_uc010cwy.1_Missense_Mutation_p.E33D	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	33						cytoplasm|cytoskeleton	actin binding			ovary(1)|pancreas(1)	2														0.054054	-10.449824	12.831609	6	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38416822	38416822	17942	17	G	T	T	T	438	34	WIPF2	2	2
CRHR1	1394	broad.mit.edu	37	17	43906655	43906655	+	Silent	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:43906655C>G	uc010dap.2	+	c.402C>G	c.(400-402)CTC>CTG	p.L134L	CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_Silent_p.L33L|CRHR1_uc002ijm.2_Silent_p.L134L|CRHR1_uc002ijn.2_Silent_p.L94L|CRHR1_uc010dar.2_Silent_p.L134L|CRHR1_uc010dao.2_Silent_p.L33L|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Non-coding_Transcript	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	134	Helical; Name=1; (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity				0	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		Ovarian(110;57 1568 10207 38216 49865)								0.047619	-5.726075	7.994746	3	60	KEEP	---	---	---	---	capture		Silent	SNP	43906655	43906655	4010	17	C	G	G	G	379	30	CRHR1	3	3
KIAA1267	284058	broad.mit.edu	37	17	44249162	44249162	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:44249162C>A	uc002ikb.2	-	c.348G>T	c.(346-348)CAG>CAT	p.Q116H	KIAA1267_uc002ikc.2_Missense_Mutation_p.Q116H|KIAA1267_uc002ikd.2_Missense_Mutation_p.Q116H|KIAA1267_uc010dav.2_Missense_Mutation_p.Q116H	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	116						MLL1 complex	protein binding				0		Melanoma(429;0.211)												0.039813	-63.716455	33.803402	17	410	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44249162	44249162	8528	17	C	A	A	A	259	20	KIAA1267	2	2
KPNB1	3837	broad.mit.edu	37	17	45752095	45752095	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:45752095G>C	uc002ilt.1	+	c.1859G>C	c.(1858-1860)GGG>GCG	p.G620A	KPNB1_uc010wkw.1_Missense_Mutation_p.G475A|KPNB1_uc010wkx.1_Missense_Mutation_p.G404A	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	620	HEAT 7.				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														0.0625	-13.427574	24.852069	12	180	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45752095	45752095	8750	17	G	C	C	C	559	43	KPNB1	3	3
KCNH6	81033	broad.mit.edu	37	17	61622973	61622973	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61622973C>A	uc002jay.2	+	c.2695C>A	c.(2695-2697)CCA>ACA	p.P899T	KCNH6_uc010wpl.1_Missense_Mutation_p.P740T|KCNH6_uc010wpm.1_Missense_Mutation_p.P863T|KCNH6_uc002jaz.1_Missense_Mutation_p.P810T	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	899	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction						0					Ibutilide(DB00308)									0.081967	0.729562	11.57754	5	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61622973	61622973	8341	17	C	A	A	A	286	22	KCNH6	2	2
GH2	2689	broad.mit.edu	37	17	61958049	61958049	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61958049A>C	uc002jcl.1	-	c.539T>G	c.(538-540)TTT>TGT	p.F180C	GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Intron|GH2_uc002jcm.1_Intron|GH2_uc002jcn.1_Intron|GH2_uc002jco.1_Intron	NM_022557	NP_072051	P01242	SOM2_HUMAN	growth hormone 2 isoform 2	Error:Variant_position_missing_in_P01242_after_alignment						extracellular region	hormone activity			pancreas(1)	1														0.056818	-10.479488	25.805239	10	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61958049	61958049	6636	17	A	C	C	C	13	1	GH2	4	4
KCNJ16	3773	broad.mit.edu	37	17	68128403	68128403	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:68128403G>T	uc002jiq.2	+	c.271G>T	c.(271-273)GTT>TTT	p.V91F	KCNJ16_uc002jin.2_Missense_Mutation_p.V59F|KCNJ16_uc002jio.2_Missense_Mutation_p.V59F|KCNJ16_uc002jip.2_Missense_Mutation_p.V59F	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	59	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)	2	Breast(10;2.96e-09)													0.05	-22.853835	24.394077	11	209	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68128403	68128403	8355	17	G	T	T	T	572	44	KCNJ16	2	2
DSC1	1823	broad.mit.edu	37	18	28737519	28737519	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:28737519G>T	uc002kwn.2	-	c.166C>A	c.(166-168)CTC>ATC	p.L56I	DSC1_uc002kwm.2_Missense_Mutation_p.L56I	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	56					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)	3			OV - Ovarian serous cystadenocarcinoma(10;0.00778)											0.092784	2.313228	18.490733	9	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28737519	28737519	4949	18	G	T	T	T	429	33	DSC1	2	2
EPB41L3	23136	broad.mit.edu	37	18	5428374	5428374	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:5428374G>T	uc002kmt.1	-	c.1003C>A	c.(1003-1005)CCC>ACC	p.P335T	EPB41L3_uc010wzh.1_Missense_Mutation_p.P335T|EPB41L3_uc002kmu.1_Missense_Mutation_p.P335T|EPB41L3_uc010dkq.1_Missense_Mutation_p.P226T|EPB41L3_uc010dks.1_Missense_Mutation_p.P357T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	335	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.050228	-25.677987	21.227824	11	208	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5428374	5428374	5347	18	G	T	T	T	546	42	EPB41L3	2	2
PIGN	23556	broad.mit.edu	37	18	59777144	59777144	+	Silent	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:59777144C>G	uc002lii.3	-	c.1497G>C	c.(1495-1497)CTG>CTC	p.L499L	PIGN_uc002lij.3_Silent_p.L499L	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	499	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)												0.066667	-2.111155	24.139	9	126	KEEP	---	---	---	---	capture		Silent	SNP	59777144	59777144	12317	18	C	G	G	G	314	25	PIGN	3	3
SERPINB13	5275	broad.mit.edu	37	18	61264592	61264592	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61264592C>A	uc010xep.1	+	c.1198C>A	c.(1198-1200)CCT>ACT	p.P400T	SERPINB13_uc002ljc.2_Missense_Mutation_p.P391T|SERPINB13_uc002ljd.2_Missense_Mutation_p.P255T|SERPINB13_uc010xeq.1_Missense_Mutation_p.P212T|SERPINB13_uc010xer.1_Missense_Mutation_p.P212T	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	391					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1														0.049645	-18.098538	12.301378	7	134	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61264592	61264592	14588	18	C	A	A	A	390	30	SERPINB13	2	2
SERPINB4	6318	broad.mit.edu	37	18	61306540	61306540	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:61306540T>A	uc002ljf.2	-	c.647A>T	c.(646-648)TAC>TTC	p.Y216F	SERPINB4_uc002lje.2_Intron|SERPINB4_uc002ljg.2_Intron	NM_002974	NP_002965	P48594	SPB4_HUMAN	serine (or cysteine) proteinase inhibitor, clade	216					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2										163				0.046512	-10.470118	8.387449	4	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61306540	61306540	14591	18	T	A	A	A	741	57	SERPINB4	3	3
CD97	976	broad.mit.edu	37	19	14512216	14512216	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14512216G>A	uc002myl.2	+	c.916G>A	c.(916-918)GAT>AAT	p.D306N	CD97_uc002mym.2_Missense_Mutation_p.D257N|CD97_uc002myn.2_Missense_Mutation_p.D213N	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	306	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														0.114286	3.979113	9.109796	4	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14512216	14512216	3177	19	G	A	A	A	533	41	CD97	2	2
ZNF99	7652	broad.mit.edu	37	19	22940448	22940448	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22940448G>C	uc010xrh.1	-	c.1990C>G	c.(1990-1992)CAT>GAT	p.H664D		NM_001080409	NP_001073878	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	664	C2H2-type 18.				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)												0.084746	8.060224	28.701982	10	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22940448	22940448	18808	19	G	C	C	C	585	45	ZNF99	3	3
ZNF546	339327	broad.mit.edu	37	19	40514427	40514427	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40514427G>T	uc002oms.2	+	c.349G>T	c.(349-351)GAG>TAG	p.E117*	ZNF546_uc002omt.2_Nonsense_Mutation_p.E91*	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	117	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)													0.059211	-16.275522	14.765334	9	143	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	40514427	40514427	18573	19	G	T	T	T	429	33	ZNF546	5	2
ATP1A3	478	broad.mit.edu	37	19	42490070	42490070	+	Silent	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:42490070C>T	uc010xwh.1	-	c.591G>A	c.(589-591)AAG>AAA	p.K197K	ATP1A3_uc010xwf.1_Silent_p.K195K|ATP1A3_uc010xwg.1_Silent_p.K154K|ATP1A3_uc002osg.2_Silent_p.K184K|ATP1A3_uc002osh.2_Silent_p.K184K	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	184	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2														0.065041	-6.798244	17.374939	8	115	KEEP	---	---	---	---	capture		Silent	SNP	42490070	42490070	1149	19	C	T	T	T	311	24	ATP1A3	2	2
PSG6	5675	broad.mit.edu	37	19	43414968	43414968	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43414968G>T	uc002ovj.1	-	c.470C>A	c.(469-471)CCC>CAC	p.P157H	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.P164H|PSG6_uc002ovi.2_Missense_Mutation_p.P158H|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Missense_Mutation_p.P157H|PSG6_uc002ovg.1_Missense_Mutation_p.P157H	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	157	Ig-like C2-type 1.				female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00899)												0.06383	-16.127494	30.369604	15	220	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43414968	43414968	13112	19	G	T	T	T	559	43	PSG6	2	2
PSG4	5672	broad.mit.edu	37	19	43708212	43708212	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43708212C>A	uc002ovy.2	-	c.256G>T	c.(256-258)GGT>TGT	p.G86C	PSG4_uc002owa.2_Non-coding_Transcript|PSG4_uc002owb.2_Missense_Mutation_p.G86C|PSG4_uc002ovz.2_Missense_Mutation_p.G86C	NM_002780	NP_002771	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4 isoform	86	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00682)												0.070755	-10.487211	70.152659	30	394	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43708212	43708212	13110	19	C	A	A	A	299	23	PSG4	1	1
AP2S1	1175	broad.mit.edu	37	19	47342740	47342740	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:47342740G>A	uc002pft.1	-	c.249C>T	c.(247-249)GCC>GCT	p.A83A	AP2S1_uc002pfu.1_Intron	NM_004069	NP_004060	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1	83				A -> G (in Ref. 1; CAA65782 and 2; CAA09018).	axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity				0		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)										0.028846	-39.840965	10.971886	6	202	KEEP	---	---	---	---	capture		Silent	SNP	47342740	47342740	753	19	G	A	A	A	600	47	AP2S1	2	2
ZNF765	91661	broad.mit.edu	37	19	53911926	53911926	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53911926A>T	uc010ydx.1	+	c.1118A>T	c.(1117-1119)CAT>CTT	p.H373L	ZNF765_uc002qbm.2_Missense_Mutation_p.H373L|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	373	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)										0.036458	-29.943724	14.800699	7	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53911926	53911926	18737	19	A	T	T	T	104	8	ZNF765	3	3
NLRP12	91662	broad.mit.edu	37	19	54299180	54299180	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54299180C>T	uc002qcj.3	-	c.3034G>A	c.(3034-3036)GGG>AGG	p.G1012R	NLRP12_uc010eqw.2_Missense_Mutation_p.G237R|NLRP12_uc002qch.3_Missense_Mutation_p.G1011R|NLRP12_uc002qci.3_Missense_Mutation_p.G954R|NLRP12_uc002qck.3_Non-coding_Transcript|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	1011	LRR 7.				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)										0.090909	2.964793	10.38853	4	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54299180	54299180	10877	19	C	T	T	T	312	24	NLRP12	2	2
NLRP8	126205	broad.mit.edu	37	19	56485017	56485017	+	Splice_Site_SNP	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:56485017G>C	uc002qmh.2	+	c.2535_splice	c.e7-1	p.S845_splice	NLRP8_uc010etg.2_Intron	NM_176811	NP_789781			NLR family, pyrin domain containing 8							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)										0.023033	-108.982075	23.053004	12	509	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	56485017	56485017	10886	19	G	C	C	C	455	35	NLRP8	5	3
ZNF135	7694	broad.mit.edu	37	19	58579459	58579459	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58579459C>A	uc010yhq.1	+	c.1643C>A	c.(1642-1644)CCC>CAC	p.P548H	ZNF135_uc002qre.2_Missense_Mutation_p.P536Q|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.P494H|ZNF135_uc002qrg.2_Missense_Mutation_p.P506H|ZNF135_uc010yhr.1_Missense_Mutation_p.P357H	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	548					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)										0.044776	-8.419718	6.415153	3	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58579459	58579459	18316	19	C	A	A	A	286	22	ZNF135	2	2
POLRMT	5442	broad.mit.edu	37	19	625204	625204	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:625204G>A	uc002lpf.1	-	c.873C>T	c.(871-873)GGC>GGT	p.G291G		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	291					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			pancreas(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)										0.041667	-13.469285	8.196204	4	92	KEEP	---	---	---	---	capture		Silent	SNP	625204	625204	12666	19	G	A	A	A	431	34	POLRMT	2	2
MUC16	94025	broad.mit.edu	37	19	9058299	9058299	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9058299G>A	uc002mkp.2	-	c.29147C>T	c.(29146-29148)ACG>ATG	p.T9716M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	9718	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														0.113208	4.212985	12.053157	6	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9058299	9058299	10367	19	G	A	A	A	520	40	MUC16	1	1
MUC16	94025	broad.mit.edu	37	19	9073838	9073838	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9073838G>C	uc002mkp.2	-	c.13608C>G	c.(13606-13608)AAC>AAG	p.N4536K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4538	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														0.064935	-0.687253	14.44993	5	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9073838	9073838	10367	19	G	C	C	C	620	48	MUC16	3	3
OR7G2	390882	broad.mit.edu	37	19	9213200	9213200	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9213200G>T	uc010xkk.1	-	c.783C>A	c.(781-783)ACC>ACA	p.T261T		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						Esophageal Squamous(67;143 1448 28637 40648)								0.052174	-12.349867	12.039669	6	109	KEEP	---	---	---	---	capture		Silent	SNP	9213200	9213200	11634	19	G	T	T	T	444	35	OR7G2	2	2
ZNF559	84527	broad.mit.edu	37	19	9449258	9449258	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9449258G>T	uc002mle.3	+	c.225G>T	c.(223-225)CAG>CAT	p.Q75H	ZNF559_uc002mlf.2_De_novo_Start_OutOfFrame|ZNF559_uc010dwl.1_De_novo_Start_OutOfFrame|ZNF559_uc010xkn.1_Intron|ZNF559_uc010dwm.1_Missense_Mutation_p.Q11H|ZNF559_uc010dwk.1_De_novo_Start_OutOfFrame|ZNF559_uc002mld.2_Missense_Mutation_p.Q75H|ZNF559_uc010dwo.1_Missense_Mutation_p.Q39H|ZNF559_uc002mlg.2_Missense_Mutation_p.Q11H|ZNF559_uc002mlh.1_Non-coding_Transcript|ZNF177_uc002mli.2_5'UTR|ZNF177_uc002mlj.2_Intron	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN	zinc finger protein 559	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1														0.046729	-13.901356	9.527579	5	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9449258	9449258	18585	19	G	T	T	T	451	35	ZNF559	2	2
GSTM5	2949	broad.mit.edu	37	1	110256125	110256125	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:110256125G>T	uc001dyn.2	+	c.197G>T	c.(196-198)GGG>GTG	p.G66V	GSTM5_uc010ovu.1_Missense_Mutation_p.G25V	NM_000851	NP_000842	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	66	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			central_nervous_system(6)	6		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)									0.040462	-27.353365	11.945792	7	166	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110256125	110256125	7121	1	G	T	T	T	559	43	GSTM5	2	2
TBX15	6913	broad.mit.edu	37	1	119469162	119469162	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:119469162G>A	uc001ehl.1	-	c.174C>T	c.(172-174)GAC>GAT	p.D58D		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	164	T-box.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)										0.059524	-7.79852	9.264893	5	79	KEEP	---	---	---	---	capture		Silent	SNP	119469162	119469162	16178	1	G	A	A	A	620	48	TBX15	2	2
MIIP	60672	broad.mit.edu	37	1	12089847	12089847	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12089847G>T	uc001ato.1	+	c.741G>T	c.(739-741)CGG>CGT	p.R247R		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	invasion inhibitory protein 45	247	Interaction with IGFBP2.									ovary(1)	1														0.096774	1.504131	6.553708	3	28	KEEP	---	---	---	---	capture		Silent	SNP	12089847	12089847	9975	1	G	T	T	T	535	42	MIIP	2	2
PRAMEF12	390999	broad.mit.edu	37	1	12837707	12837707	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12837707C>A	uc001aui.2	+	c.1417C>A	c.(1417-1419)CTG>ATG	p.L473M		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	473										ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.100917	7.43666	24.771168	11	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12837707	12837707	12864	1	C	A	A	A	415	32	PRAMEF12	2	2
PRAMEF13	400736	broad.mit.edu	37	1	13448266	13448266	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:13448266C>A	uc010obi.1	-	c.1209G>T	c.(1207-1209)GGG>GGT	p.G403G	PRAMEF14_uc009vnt.1_Silent_p.G355G	NM_001024661	NP_001019832	Q5VWM6	PRA13_HUMAN	PRAME family member 13	403											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)										0.062069	-12.836538	16.098296	9	136	KEEP	---	---	---	---	capture		Silent	SNP	13448266	13448266	12865	1	C	A	A	A	327	26	PRAMEF13	2	2
ANKRD34A	284615	broad.mit.edu	37	1	145474697	145474697	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145474697G>T	uc001enq.1	+	c.1369G>T	c.(1369-1371)GGG>TGG	p.G457W	NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	457	Pro-rich.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)													0.139535	11.223752	16.617709	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145474697	145474697	669	1	G	T	T	T	507	39	ANKRD34A	1	1
SV2A	9900	broad.mit.edu	37	1	149885086	149885086	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:149885086G>T	uc001etg.2	-	c.307C>A	c.(307-309)CGG>AGG	p.R103R	SV2A_uc001eth.2_Silent_p.R103R	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	103	Cytoplasmic (Potential).				neurotransmitter transport|transmembrane transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)									0.057803	-13.849404	21.592974	10	163	KEEP	---	---	---	---	capture		Silent	SNP	149885086	149885086	15937	1	G	T	T	T	506	39	SV2A	1	1
PLEKHO1	51177	broad.mit.edu	37	1	150129601	150129601	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:150129601A>C	uc001ett.2	+	c.446A>C	c.(445-447)TAT>TCT	p.Y149S	PLEKHO1_uc001etr.2_5'UTR|PLEKHO1_uc001ets.2_Intron|PLEKHO1_uc001etu.2_5'UTR	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O	149	Interaction with ATM, CKIP, IFP35 and NMI.|Interaction with capping proteins (CPs).					cytoplasm|nucleus|plasma membrane				lung(1)	1	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)											0.094737	6.310321	21.973143	9	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150129601	150129601	12510	1	A	C	C	C	208	16	PLEKHO1	4	4
FLG	2312	broad.mit.edu	37	1	152278647	152278647	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152278647C>A	uc001ezu.1	-	c.8715G>T	c.(8713-8715)GAG>GAT	p.E2905D		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2905	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)											0.032454	-90.246801	27.531979	16	477	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152278647	152278647	6160	1	C	A	A	A	415	32	FLG	2	2
FLG	2312	broad.mit.edu	37	1	152279646	152279646	+	Silent	SNP	G	A	A	rs113241501		TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152279646G>A	uc001ezu.1	-	c.7716C>T	c.(7714-7716)GAC>GAT	p.D2572D		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2572	Ser-rich.|Filaggrin 15.				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)											0.058667	-33.481956	43.070111	22	353	KEEP	---	---	---	---	capture		Silent	SNP	152279646	152279646	6160	1	G	A	A	A	620	48	FLG	2	2
LCE1F	353137	broad.mit.edu	37	1	152748887	152748887	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152748887C>A	uc010pdv.1	+	c.40C>A	c.(40-42)CCC>ACC	p.P14T		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	14	Pro-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.080645	-0.954367	10.144582	5	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152748887	152748887	8987	1	C	A	A	A	390	30	LCE1F	2	2
GATAD2B	57459	broad.mit.edu	37	1	153800615	153800615	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:153800615C>A	uc001fdb.3	-	c.209G>T	c.(208-210)AGT>ATT	p.S70I		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	70					regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)											0.049669	-31.738113	33.262515	15	287	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153800615	153800615	6525	1	C	A	A	A	260	20	GATAD2B	2	2
NUP210L	91181	broad.mit.edu	37	1	154112395	154112395	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154112395G>A	uc001fdw.2	-	c.600C>T	c.(598-600)CCC>CCT	p.P200P	NUP210L_uc010peh.1_Silent_p.P200P	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	200						integral to membrane				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)											0.046472	-65.424004	61.977938	27	554	KEEP	---	---	---	---	capture		Silent	SNP	154112395	154112395	11166	1	G	A	A	A	548	43	NUP210L	2	2
AQP10	89872	broad.mit.edu	37	1	154296832	154296832	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:154296832A>T	uc001feu.2	+	c.782A>T	c.(781-783)CAG>CTG	p.Q261L	AQP10_uc001fev.2_3'UTR|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	261	Extracellular (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)									OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.125	16.598684	27.583915	10	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154296832	154296832	833	1	A	T	T	T	91	7	AQP10	3	3
PEAR1	375033	broad.mit.edu	37	1	156883518	156883518	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:156883518C>A	uc001fqj.1	+	c.2679C>A	c.(2677-2679)AGC>AGA	p.S893R	PEAR1_uc001fqk.1_Missense_Mutation_p.S518R	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	893	Pro-rich.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)													0.155172	16.735254	23.325215	9	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	156883518	156883518	12133	1	C	A	A	A	363	28	PEAR1	2	2
FCRL4	83417	broad.mit.edu	37	1	157556006	157556006	+	Missense_Mutation	SNP	T	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157556006T>G	uc001fqw.2	-	c.1087A>C	c.(1087-1089)AAC>CAC	p.N363H	FCRL4_uc010phy.1_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	363	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)	3	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)								315				0.084158	7.01764	42.489967	17	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157556006	157556006	6034	1	T	G	G	G	819	63	FCRL4	4	4
CD1B	910	broad.mit.edu	37	1	158299700	158299700	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158299700G>T	uc001frx.2	-	c.549C>A	c.(547-549)ACC>ACA	p.T183T	CD1B_uc001frw.2_Silent_p.T76T	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	183	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)													0.044534	-33.997975	20.845883	11	236	KEEP	---	---	---	---	capture		Silent	SNP	158299700	158299700	3102	1	G	T	T	T	444	35	CD1B	2	2
PYHIN1	149628	broad.mit.edu	37	1	158943507	158943507	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158943507C>A	uc001ftb.2	+	c.1430C>A	c.(1429-1431)CCT>CAT	p.P477H	PYHIN1_uc001ftc.2_Missense_Mutation_p.P468H|PYHIN1_uc001ftd.2_Intron|PYHIN1_uc001fte.2_Intron	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1 alpha 1	477					cell cycle	nuclear speck				ovary(3)|pancreas(1)	4	all_hematologic(112;0.0378)													0.058824	-12.058852	19.138975	9	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158943507	158943507	13323	1	C	A	A	A	312	24	PYHIN1	2	2
FAM78B	149297	broad.mit.edu	37	1	166039567	166039567	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:166039567C>T	uc001gdr.2	-	c.697G>A	c.(697-699)GCA>ACA	p.A233T	FAM78B_uc010plc.1_Non-coding_Transcript|FAM78B_uc001gdq.2_Non-coding_Transcript	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	hypothetical protein LOC149297	233										central_nervous_system(1)	1	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)													0.034965	-24.957442	8.684267	5	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	166039567	166039567	5853	1	C	T	T	T	325	25	FAM78B	2	2
MPZL1	9019	broad.mit.edu	37	1	167745338	167745338	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:167745338G>T	uc001geo.2	+	c.643G>T	c.(643-645)GCT>TCT	p.A215S	MPZL1_uc001gep.2_Intron|MPZL1_uc001geq.2_Intron|MPZL1_uc009wvh.2_Non-coding_Transcript	NM_003953	NP_003944	O95297	MPZL1_HUMAN	myelin protein zero-like 1 isoform a	215	Cytoplasmic (Potential).				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			ovary(2)	2	all_hematologic(923;0.215)													0.078125	-0.859835	10.771266	5	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167745338	167745338	10141	1	G	T	T	T	546	42	MPZL1	2	2
TBX19	9095	broad.mit.edu	37	1	168262493	168262493	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:168262493G>T	uc001gfl.2	+	c.580G>T	c.(580-582)GTG>TTG	p.V194L	TBX19_uc001gfj.3_Missense_Mutation_p.V125L	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	194	T-box.				anatomical structure morphogenesis	nucleus	DNA binding|RNA polymerase II transcription factor activity				0	all_hematologic(923;0.215)													0.069767	-0.811205	7.407612	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	168262493	168262493	16180	1	G	T	T	T	520	40	TBX19	1	1
LAX1	54900	broad.mit.edu	37	1	203743207	203743207	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:203743207G>T	uc001haa.2	+	c.595G>T	c.(595-597)GCA>TCA	p.A199S	LAX1_uc010pql.1_Missense_Mutation_p.A183S|LAX1_uc001hab.2_Missense_Mutation_p.A123S	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1 isoform a	199	Cytoplasmic (Potential).				B cell activation|immune response|inactivation of MAPK activity|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)	2	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)											0.091603	5.194972	27.211664	12	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	203743207	203743207	8971	1	G	T	T	T	442	34	LAX1	2	2
C1orf107	27042	broad.mit.edu	37	1	210015678	210015678	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:210015678G>T	uc001hhr.1	+	c.1554G>T	c.(1552-1554)ATG>ATT	p.M518I	C1orf107_uc009xcu.1_Missense_Mutation_p.M233I	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	518					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)										0.034483	-19.185813	8.159661	4	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	210015678	210015678	2048	1	G	T	T	T	624	48	C1orf107	2	2
USH2A	7399	broad.mit.edu	37	1	215820889	215820889	+	Nonsense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215820889C>T	uc001hku.1	-	c.14766G>A	c.(14764-14766)TGG>TGA	p.W4922*		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4922	Extracellular (Potential).|Fibronectin type-III 34.				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)										0.142857	12.36016	19.253881	8	48	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	215820889	215820889	17598	1	C	T	T	T	390	30	USH2A	5	2
SLC30A10	55532	broad.mit.edu	37	1	220100447	220100448	+	Splice_Site_DNP	DNP	CC	AA	AA			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:220100447_220100448CC>AA	uc001hlw.2	-	c.641_splice	c.e2-1	p.G214_splice	SLC30A10_uc001hlu.1_Splice_Site_DNP|SLC30A10_uc001hlx.2_5'UTR	NM_018713	NP_061183			solute carrier family 30 (zinc transporter),						zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		Colon(76;360 1614 43677 51136)								0.13986	31.796673	49.715772	20	123	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	220100447	220100448	15051	1	CC	AA	AA	AA	234	18	SLC30A10	5	2
SIPA1L2	57568	broad.mit.edu	37	1	232577115	232577115	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:232577115G>A	uc001hvg.2	-	c.3564C>T	c.(3562-3564)TCC>TCT	p.S1188S	SIPA1L2_uc001hvf.2_Silent_p.S262S	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1188					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.056306	-32.2854	59.563738	25	419	KEEP	---	---	---	---	capture		Silent	SNP	232577115	232577115	14825	1	G	A	A	A	600	47	SIPA1L2	2	2
TARBP1	6894	broad.mit.edu	37	1	234565957	234565957	+	Nonsense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:234565957G>A	uc001hwd.2	-	c.2485C>T	c.(2485-2487)CAG>TAG	p.Q829*		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	829					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)	2	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)											0.131429	28.958704	52.026726	23	152	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	234565957	234565957	16076	1	G	A	A	A	598	46	TARBP1	5	2
RYR2	6262	broad.mit.edu	37	1	237947042	237947042	+	Silent	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237947042G>C	uc001hyl.1	+	c.12030G>C	c.(12028-12030)GTG>GTC	p.V4010V	RYR2_uc010pya.1_Silent_p.V425V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4010					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)											0.071429	-0.809083	7.139841	3	39	KEEP	---	---	---	---	capture		Silent	SNP	237947042	237947042	14249	1	G	C	C	C	600	47	RYR2	3	3
EXO1	9156	broad.mit.edu	37	1	242042514	242042514	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:242042514A>T	uc001hzh.2	+	c.1978A>T	c.(1978-1980)AGT>TGT	p.S660C	EXO1_uc001hzi.2_Missense_Mutation_p.S660C|EXO1_uc001hzj.2_Missense_Mutation_p.S660C|EXO1_uc009xgq.2_Missense_Mutation_p.S659C	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	660	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)											0.047619	-9.767896	8.529183	4	80	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	242042514	242042514	5493	1	A	T	T	T	91	7	EXO1	3	3
CEP170	9859	broad.mit.edu	37	1	243354347	243354347	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:243354347C>A	uc001hzs.2	-	c.1081G>T	c.(1081-1083)GTT>TTT	p.V361F	CEP170_uc001hzt.2_Missense_Mutation_p.V361F|CEP170_uc001hzu.2_Missense_Mutation_p.V361F	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	361						centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)											0.222222	8.581276	9.870204	4	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	243354347	243354347	3383	1	C	A	A	A	221	17	CEP170	2	2
SDCCAG8	10806	broad.mit.edu	37	1	243579109	243579109	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:243579109G>T	uc001hzw.2	+	c.1722G>T	c.(1720-1722)ATG>ATT	p.M574I	SDCCAG8_uc010pyk.1_Missense_Mutation_p.M429I|SDCCAG8_uc010pyl.1_Missense_Mutation_p.M386I|SDCCAG8_uc001hzx.2_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	574	Mediates interaction with OFD1.|Gln-rich.|Potential.|Sufficient for homodimerization (By similarity).				G2/M transition of mitotic cell cycle	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)						7				0.179487	15.19996	18.969784	7	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	243579109	243579109	14444	1	G	T	T	T	611	47	SDCCAG8	2	2
OR1C1	26188	broad.mit.edu	37	1	247921475	247921475	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247921475G>T	uc010pza.1	-	c.234C>A	c.(232-234)GTC>GTA	p.V78V		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	78	Helical; Name=2; (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)											0.133333	9.863573	17.692502	8	52	KEEP	---	---	---	---	capture		Silent	SNP	247921475	247921475	11358	1	G	T	T	T	522	41	OR1C1	2	2
OR2L8	391190	broad.mit.edu	37	1	248112412	248112412	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248112412C>G	uc001idt.1	+	c.253C>G	c.(253-255)CTG>GTG	p.L85V	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	85	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)											0.123103	133.539862	215.966301	73	520	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248112412	248112412	11415	1	C	G	G	G	415	32	OR2L8	3	3
OR2L13	284521	broad.mit.edu	37	1	248263130	248263130	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248263130G>T	uc001ids.2	+	c.453G>T	c.(451-453)GGG>GGT	p.G151G		NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	151	Helical; Name=4; (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				0.131579	80.668777	135.806465	55	363	KEEP	---	---	---	---	capture		Silent	SNP	248263130	248263130	11412	1	G	T	T	T	561	44	OR2L13	2	2
OR2T6	254879	broad.mit.edu	37	1	248551546	248551546	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248551546G>T	uc001iei.1	+	c.637G>T	c.(637-639)GTG>TTG	p.V213L		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	213	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)											0.12069	18.376147	34.735188	14	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248551546	248551546	11435	1	G	T	T	T	572	44	OR2T6	2	2
CSMD2	114784	broad.mit.edu	37	1	34083158	34083158	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34083158C>A	uc001bxm.1	-	c.5887G>T	c.(5887-5889)GAG>TAG	p.E1963*	CSMD2_uc001bxn.1_Nonsense_Mutation_p.E1923*|CSMD2_uc001bxo.1_Nonsense_Mutation_p.E836*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1923	Sushi 11.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(5)|pancreas(1)	6		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)												0.086957	-0.138076	7.815542	4	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	34083158	34083158	4086	1	C	A	A	A	403	31	CSMD2	5	1
C1orf94	84970	broad.mit.edu	37	1	34663388	34663388	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:34663388C>A	uc001bxt.2	+	c.883C>A	c.(883-885)CGA>AGA	p.R295R	C1orf94_uc001bxs.3_Silent_p.R105R	NM_001134734	NP_001128206	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform a	105							protein binding				0		Myeloproliferative disorder(586;0.0393)												0.04878	-8.325671	9.372537	4	78	KEEP	---	---	---	---	capture		Silent	SNP	34663388	34663388	2147	1	C	A	A	A	295	23	C1orf94	1	1
SF3A3	10946	broad.mit.edu	37	1	38435025	38435025	+	Splice_Site_SNP	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:38435025C>A	uc001cci.2	-	c.1281_splice	c.e14+1	p.A427_splice	SF3A3_uc010oik.1_Splice_Site_SNP_p.A374_splice	NM_006802	NP_006793			splicing factor 3a, subunit 3						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)												0.078125	1.02171	12.667149	5	59	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	38435025	38435025	14637	1	C	A	A	A	221	17	SF3A3	5	2
PPAP2B	8613	broad.mit.edu	37	1	56989949	56989949	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:56989949C>A	uc001cyj.1	-	c.575G>T	c.(574-576)AGG>ATG	p.R192M		NM_177414	NP_803133	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	192	Lumenal (Potential).				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity				0														0.086614	3.325195	25.304913	11	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56989949	56989949	12721	1	C	A	A	A	312	24	PPAP2B	2	2
LRRC7	57554	broad.mit.edu	37	1	70504491	70504491	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70504491C>G	uc001dep.2	+	c.2870C>G	c.(2869-2871)ACA>AGA	p.T957R	LRRC7_uc009wbg.2_Missense_Mutation_p.T241R|LRRC7_uc001deq.2_Missense_Mutation_p.T198R	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	957						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.054348	-7.6068	11.660005	5	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70504491	70504491	9396	1	C	G	G	G	221	17	LRRC7	3	3
KIF16B	55614	broad.mit.edu	37	20	16355030	16355030	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:16355030C>A	uc010gci.1	-	c.3222G>T	c.(3220-3222)CTG>CTT	p.L1074L	KIF16B_uc002wpe.1_Silent_p.L456L|KIF16B_uc002wpf.1_Silent_p.L456L|KIF16B_uc002wpg.1_Silent_p.L1074L|KIF16B_uc010gch.1_Intron	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	1074	Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7														0.050955	-17.242244	16.300347	8	149	KEEP	---	---	---	---	capture		Silent	SNP	16355030	16355030	8589	20	C	A	A	A	366	29	KIF16B	2	2
C20orf79	140856	broad.mit.edu	37	20	18794626	18794626	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:18794626G>T	uc002wrk.2	+	c.167G>T	c.(166-168)AGG>ATG	p.R56M		NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	hypothetical protein LOC140856	56	SCP2.						sterol binding				0														0.061728	-5.59599	10.640907	5	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	18794626	18794626	2199	20	G	T	T	T	455	35	C20orf79	2	2
XKR7	343702	broad.mit.edu	37	20	30584922	30584922	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:30584922G>T	uc002wxe.2	+	c.1402G>T	c.(1402-1404)GCC>TCC	p.A468S		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	468						integral to membrane				ovary(1)|breast(1)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)											0.08	-1.626982	7.365889	4	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30584922	30584922	18017	20	G	T	T	T	494	38	XKR7	1	1
C20orf186	149954	broad.mit.edu	37	20	31690778	31690778	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:31690778G>T	uc010zue.1	+	c.1638G>T	c.(1636-1638)AAG>AAT	p.K546N		NM_182519	NP_872325	P59827	LPLC4_HUMAN	antimicrobial peptide RY2G5 precursor	546						cytoplasm|extracellular region	lipid binding				0														0.081633	-3.166146	14.213325	8	90	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31690778	31690778	2176	20	G	T	T	T	529	41	C20orf186	2	2
EMILIN3	90187	broad.mit.edu	37	20	39992319	39992319	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:39992319G>T	uc002xjy.1	-	c.473C>A	c.(472-474)CCC>CAC	p.P158H		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	158						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)												0.058824	-5.849848	8.007469	4	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39992319	39992319	5287	20	G	T	T	T	559	43	EMILIN3	2	2
PTPRT	11122	broad.mit.edu	37	20	40748573	40748573	+	Splice_Site_SNP	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:40748573A>T	uc010ggj.2	-	c.2941_splice	c.e21+1	p.G981_splice	PTPRT_uc002xkg.2_Splice_Site_SNP_p.G962_splice|PTPRT_uc010ggi.2_Splice_Site_SNP_p.G165_splice	NM_133170	NP_573400			protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			ovary(7)|lung(5)|skin(2)	14		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)								646				0.075269	-2.271247	32.119328	14	172	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	40748573	40748573	13270	20	A	T	T	T	182	14	PTPRT	5	3
MYBL2	4605	broad.mit.edu	37	20	42331360	42331361	+	Missense_Mutation	DNP	CA	TT	TT			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:42331360_42331361CA>TT	uc002xlb.1	+	c.1182_1183CA>TT	c.(1180-1185)CCCAGC>CCTTGC	p.S395C	MYBL2_uc010zwj.1_Missense_Mutation_p.S371C|MYBL2_uc002xla.1_Missense_Mutation_p.S395C	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	395					regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)							380				0.088235	3.39821	15.052088	6	62	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	42331360	42331361	10405	20	CA	TT	TT	TT	262	21	MYBL2	2	2
BMP7	655	broad.mit.edu	37	20	55803312	55803312	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:55803312T>C	uc010gip.1	-	c.584A>G	c.(583-585)TAT>TGT	p.Y195C	BMP7_uc010giq.1_Missense_Mutation_p.Y195C|BMP7_uc002xyc.2_Missense_Mutation_p.Y195C	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	195					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of gene-specific transcription|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity				0	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)											0.03629	-37.036177	20.803308	9	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55803312	55803312	1490	20	T	C	C	C	637	49	BMP7	4	4
STX16	8675	broad.mit.edu	37	20	57245566	57245566	+	Splice_Site_SNP	SNP	A	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:57245566A>C	uc002xzi.2	+	c.557_splice	c.e6-2	p.R186_splice	STX16_uc010zzq.1_Splice_Site_SNP|STX16_uc002xzk.2_Splice_Site_SNP_p.R169_splice|STX16_uc002xzm.2_Splice_Site_SNP_p.R182_splice|STX16_uc002xzj.2_Splice_Site_SNP_p.R165_splice|STX16_uc002xzl.2_Splice_Site_SNP	NM_001001433	NP_001001433			syntaxin 16 isoform a						intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			ovary(1)	1	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)											0.035294	-12.530694	7.3973	3	82	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	57245566	57245566	15859	20	A	C	C	C	195	15	STX16	5	4
LAMA5	3911	broad.mit.edu	37	20	60904253	60904253	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:60904253C>A	uc002ycq.2	-	c.4176G>T	c.(4174-4176)GAG>GAT	p.E1392D		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1392	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding|receptor activity|structural molecule activity			pancreas(1)	1	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.076923	-1.739781	7.790892	4	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60904253	60904253	8932	20	C	A	A	A	363	28	LAMA5	2	2
LIPI	149998	broad.mit.edu	37	21	15537620	15537620	+	Nonsense_Mutation	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:15537620A>T	uc002yjm.2	-	c.888T>A	c.(886-888)TGT>TGA	p.C296*	LIPI_uc010gkw.1_Nonsense_Mutation_p.C199*	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	275					lipid catabolic process	extracellular region|extracellular space|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)										0.1	8.146504	25.725169	11	99	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	15537620	15537620	9152	21	A	T	T	T	128	10	LIPI	5	3
ADAMTS5	11096	broad.mit.edu	37	21	28306829	28306829	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28306829G>T	uc002ymg.2	-	c.1645C>A	c.(1645-1647)CTG>ATG	p.L549M		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	549	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.055172	-13.128109	17.082393	8	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28306829	28306829	270	21	G	T	T	T	451	35	ADAMTS5	2	2
KRTAP26-1	388818	broad.mit.edu	37	21	31692128	31692128	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31692128G>T	uc002ynw.2	-	c.226C>A	c.(226-228)CTT>ATT	p.L76I		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	76						intermediate filament				ovary(1)	1														0.094203	3.053532	25.948764	13	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31692128	31692128	8865	21	G	T	T	T	429	33	KRTAP26-1	2	2
KRTAP19-3	337970	broad.mit.edu	37	21	31864089	31864089	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31864089C>A	uc002yog.1	-	c.187G>T	c.(187-189)GGA>TGA	p.G63*		NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	63						intermediate filament					0														0.046875	-15.246178	12.752604	6	122	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	31864089	31864089	8845	21	C	A	A	A	299	23	KRTAP19-3	5	1
MORC3	23515	broad.mit.edu	37	21	37741309	37741309	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37741309G>T	uc002yvi.2	+	c.1643G>T	c.(1642-1644)CGT>CTT	p.R548L		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	548					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														0.132075	12.391749	19.357868	7	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37741309	37741309	10094	21	G	T	T	T	520	40	MORC3	1	1
TRAPPC10	7109	broad.mit.edu	37	21	45522849	45522849	+	Silent	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:45522849C>T	uc002zea.2	+	c.3537C>T	c.(3535-3537)GAC>GAT	p.D1179D	TRAPPC10_uc010gpo.2_Silent_p.D890D|TRAPPC10_uc011afa.1_Silent_p.D557D	NM_003274	NP_003265	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1179					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			ovary(1)|skin(1)	2														0.040541	-10.436751	6.382471	3	71	KEEP	---	---	---	---	capture		Silent	SNP	45522849	45522849	17001	21	C	T	T	T	246	19	TRAPPC10	1	1
KRTAP10-10	353333	broad.mit.edu	37	21	46057462	46057462	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46057462C>A	uc002zfq.2	+	c.128C>A	c.(127-129)ACC>AAC	p.T43N	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	43	15 X 5 AA repeats of C-C-X(3).					keratin filament					0														0.073171	-0.707924	6.972576	3	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46057462	46057462	8821	21	C	A	A	A	234	18	KRTAP10-10	2	2
ITGB2	3689	broad.mit.edu	37	21	46309915	46309915	+	Missense_Mutation	SNP	G	T	T	rs61747606		TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:46309915G>T	uc002zgd.2	-	c.1635C>A	c.(1633-1635)AAC>AAA	p.N545K	ITGB2_uc002zge.2_Missense_Mutation_p.N545K|ITGB2_uc002zgf.3_Missense_Mutation_p.N545K|ITGB2_uc011afl.1_Missense_Mutation_p.N467K|ITGB2_uc010gpw.2_Missense_Mutation_p.N488K|ITGB2_uc002zgg.2_Missense_Mutation_p.N545K	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	545	Extracellular (Potential).|Cysteine-rich tandem repeats.|III.				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)									0.071429	-0.280839	7.641256	3	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46309915	46309915	8198	21	G	T	T	T	516	40	ITGB2	1	1
POTEH	23784	broad.mit.edu	37	22	16287660	16287660	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:16287660C>A	uc010gqp.2	-	c.226G>T	c.(226-228)GGC>TGC	p.G76C	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	76											0														0.025229	-92.085237	16.958956	11	425	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16287660	16287660	12697	22	C	A	A	A	299	23	POTEH	1	1
PPIL2	23759	broad.mit.edu	37	22	22035675	22035675	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:22035675A>G	uc002zvh.3	+	c.383A>G	c.(382-384)TAT>TGT	p.Y128C	PPIL2_uc010gtj.1_Missense_Mutation_p.Y128C|PPIL2_uc002zvi.3_Missense_Mutation_p.Y128C|PPIL2_uc002zvg.3_Missense_Mutation_p.Y128C|PPIL2_uc011aij.1_Missense_Mutation_p.Y107C	NM_148176	NP_680481	Q13356	PPIL2_HUMAN	peptidylprolyl isomerase-like 2 isoform b	128					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-protein ligase activity			ovary(2)	2	Colorectal(54;0.105)													0.06383	-1.212748	8.08711	3	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22035675	22035675	12762	22	A	G	G	G	208	16	PPIL2	4	4
PIWIL3	440822	broad.mit.edu	37	22	25123956	25123956	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:25123956A>G	uc003abd.1	-	c.1997T>C	c.(1996-1998)ATA>ACA	p.I666T	PIWIL3_uc011ajx.1_Missense_Mutation_p.I548T|PIWIL3_uc011ajy.1_Missense_Mutation_p.I548T|PIWIL3_uc010gut.1_Missense_Mutation_p.I657T	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	666	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4														0.092593	10.769212	28.807526	10	98	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25123956	25123956	12383	22	A	G	G	G	208	16	PIWIL3	4	4
TBC1D10A	83874	broad.mit.edu	37	22	30688804	30688804	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:30688804G>T	uc010gvu.2	-	c.1108C>A	c.(1108-1110)CGC>AGC	p.R370S	GATSL3_uc003ahf.2_Non-coding_Transcript|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Missense_Mutation_p.R221S|TBC1D10A_uc011akt.1_Missense_Mutation_p.R363S|TBC1D10A_uc003ahj.3_Missense_Mutation_p.R275S|TBC1D10A_uc003ahk.3_Missense_Mutation_p.R363S	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1														0.069767	-1.091771	7.109323	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30688804	30688804	16120	22	G	T	T	T	494	38	TBC1D10A	1	1
C22orf30	253143	broad.mit.edu	37	22	32108284	32108284	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:32108284G>T	uc003alp.3	-	c.5541C>A	c.(5539-5541)ACC>ACA	p.T1847T	C22orf30_uc003alo.1_Silent_p.T1646T|C22orf30_uc010gwj.1_Silent_p.T1646T	NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	hypothetical protein LOC253143	1847											0														0.06	-6.934359	13.310801	6	94	KEEP	---	---	---	---	capture		Silent	SNP	32108284	32108284	2223	22	G	T	T	T	600	47	C22orf30	2	2
RANBP2	5903	broad.mit.edu	37	2	109371430	109371430	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:109371430G>A	uc002tem.3	+	c.2272G>A	c.(2272-2274)GAA>AAA	p.E758K		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	758					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(14)	soft_tissue(14)|pancreas(1)	15														0.057789	-34.003475	47.631662	23	375	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109371430	109371430	13488	2	G	A	A	A	585	45	RANBP2	2	2
BUB1	699	broad.mit.edu	37	2	111398671	111398671	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:111398671C>A	uc002tgc.2	-	c.2895G>T	c.(2893-2895)AAG>AAT	p.K965N	BUB1_uc010yxh.1_Missense_Mutation_p.K945N|BUB1_uc010fkb.2_Missense_Mutation_p.K908N	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	965	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|protein phosphorylation|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|kidney(1)	3		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)						375				0.100529	14.573639	44.699066	19	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111398671	111398671	1604	2	C	A	A	A	259	20	BUB1	2	2
DPP10	57628	broad.mit.edu	37	2	116525883	116525883	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:116525883C>A	uc002tle.2	+	c.1136C>A	c.(1135-1137)CCC>CAC	p.P379H	DPP10_uc002tla.1_Missense_Mutation_p.P375H|DPP10_uc002tlb.1_Missense_Mutation_p.P325H|DPP10_uc002tlc.1_Missense_Mutation_p.P371H|DPP10_uc002tlf.1_Missense_Mutation_p.P368H	NM_001004360	NP_001004360	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform short	375	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|breast(1)|skin(1)	9														0.119048	12.587516	24.558938	10	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116525883	116525883	4911	2	C	A	A	A	286	22	DPP10	2	2
GLI2	2736	broad.mit.edu	37	2	121743871	121743871	+	Silent	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:121743871C>T	uc010flp.2	+	c.1974C>T	c.(1972-1974)CCC>CCT	p.P658P	GLI2_uc002tmq.1_Silent_p.P330P|GLI2_uc002tmr.1_Silent_p.P313P|GLI2_uc002tmt.3_Silent_p.P330P|GLI2_uc002tmu.3_Silent_p.P313P|GLI2_uc002tmw.1_Silent_p.P641P	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	658					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription activator activity|zinc ion binding			ovary(7)|central_nervous_system(1)	8	Renal(3;0.0496)	Prostate(154;0.0623)								376				0.121212	5.486669	10.118802	4	29	KEEP	---	---	---	---	capture		Silent	SNP	121743871	121743871	6706	2	C	T	T	T	288	23	GLI2	1	1
SNTG2	54221	broad.mit.edu	37	2	1251123	1251123	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1251123G>C	uc002qwq.2	+	c.913G>C	c.(913-915)GAG>CAG	p.E305Q	SNTG2_uc010ewi.2_Missense_Mutation_p.E178Q	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	305	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)										0.089552	4.595159	15.991683	6	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1251123	1251123	15375	2	G	C	C	C	585	45	SNTG2	3	3
PROC	5624	broad.mit.edu	37	2	128178938	128178938	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128178938C>A	uc010yzk.1	+	c.213C>A	c.(211-213)CTC>CTA	p.L71L	PROC_uc002tok.2_Silent_p.L50L|PROC_uc002tol.2_Silent_p.L71L|PROC_uc010yzi.1_Silent_p.L71L|PROC_uc010yzj.1_5'UTR|PROC_uc002tom.2_Silent_p.L50L	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	50	Gla.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)									0.070175	-3.54844	7.328409	4	53	KEEP	---	---	---	---	capture		Silent	SNP	128178938	128178938	12988	2	C	A	A	A	379	30	PROC	2	2
NCKAP5	344148	broad.mit.edu	37	2	133542273	133542273	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:133542273C>A	uc002ttp.2	-	c.2111G>T	c.(2110-2112)GGA>GTA	p.G704V	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	704							protein binding				0														0.054726	-20.832568	21.144385	11	190	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	133542273	133542273	10622	2	C	A	A	A	390	30	NCKAP5	2	2
LRP1B	53353	broad.mit.edu	37	2	141135856	141135856	+	Splice_Site_SNP	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141135856C>G	uc002tvj.1	-	c.10532_splice	c.e68-1	p.K3511_splice		NM_018557	NP_061027			low density lipoprotein-related protein 1B						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)			0.136364	10.917324	16.553659	6	38	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	141135856	141135856	9328	2	C	G	G	G	416	32	LRP1B	5	3
CYTIP	9595	broad.mit.edu	37	2	158272583	158272583	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:158272583C>A	uc002tzj.1	-	c.686G>T	c.(685-687)GGG>GTG	p.G229V	CYTIP_uc010zcl.1_Missense_Mutation_p.G123V	NM_004288	NP_004279	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	229					regulation of cell adhesion	cell cortex|early endosome	protein binding			ovary(1)|kidney(1)	2														0.053191	-10.912732	8.819874	5	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	158272583	158272583	4372	2	C	A	A	A	286	22	CYTIP	2	2
CCDC148	130940	broad.mit.edu	37	2	159166148	159166148	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:159166148C>A	uc002tzq.2	-	c.907G>T	c.(907-909)GAA>TAA	p.E303*	CCDC148_uc002tzr.2_Nonsense_Mutation_p.E151*|CCDC148_uc010foh.2_Nonsense_Mutation_p.E16*|CCDC148_uc010foi.1_Nonsense_Mutation_p.E250*|CCDC148_uc010foj.1_Nonsense_Mutation_p.E151*|CCDC148_uc010fok.1_Nonsense_Mutation_p.E217*	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	303										ovary(2)	2														0.069767	-3.021271	13.416632	6	80	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	159166148	159166148	2902	2	C	A	A	A	377	29	CCDC148	5	2
XIRP2	129446	broad.mit.edu	37	2	168102024	168102024	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:168102024C>A	uc002udx.2	+	c.4122C>A	c.(4120-4122)GTC>GTA	p.V1374V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.V1199V|XIRP2_uc010fpq.2_Silent_p.V1152V|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1199					actin cytoskeleton organization	cell junction	actin binding			ovary(6)|pancreas(1)|skin(1)	8														0.07438	-3.608393	18.889423	9	112	KEEP	---	---	---	---	capture		Silent	SNP	168102024	168102024	18011	2	C	A	A	A	366	29	XIRP2	2	2
ZNF804A	91752	broad.mit.edu	37	2	185803228	185803228	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:185803228G>T	uc002uph.2	+	c.3105G>T	c.(3103-3105)TTG>TTT	p.L1035F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1035						intracellular	zinc ion binding			ovary(6)|large_intestine(1)|pancreas(1)	8														0.057692	-14.452946	17.57013	9	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	185803228	185803228	18768	2	G	T	T	T	581	45	ZNF804A	2	2
ZSWIM2	151112	broad.mit.edu	37	2	187712504	187712504	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:187712504G>T	uc002upu.1	-	c.184C>A	c.(184-186)CAC>AAC	p.H62N		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	62	SWIM-type.				apoptosis		zinc ion binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)											0.035714	-23.356459	9.427301	5	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	187712504	187712504	18845	2	G	T	T	T	585	45	ZSWIM2	2	2
COL5A2	1290	broad.mit.edu	37	2	189904125	189904125	+	Silent	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:189904125T>A	uc002uqk.2	-	c.3798A>T	c.(3796-3798)CCA>CCT	p.P1266P	COL5A2_uc010frx.2_Silent_p.P842P	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1266	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)											0.068966	-2.743966	8.393705	4	54	KEEP	---	---	---	---	capture		Silent	SNP	189904125	189904125	3835	2	T	A	A	A	704	55	COL5A2	3	3
CD28	940	broad.mit.edu	37	2	204591409	204591409	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:204591409G>T	uc002vah.3	+	c.106G>T	c.(106-108)GTC>TTC	p.V36F	CD28_uc002vag.1_Non-coding_Transcript|CD28_uc010zio.1_Non-coding_Transcript|CD28_uc010ftx.2_Intron|CD28_uc002vaj.3_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	CD28 antigen precursor	36	Extracellular (Potential).|Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity				0														0.073333	-3.385219	24.684205	11	139	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	204591409	204591409	3121	2	G	T	T	T	572	44	CD28	2	2
GPR1	2825	broad.mit.edu	37	2	207041255	207041255	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207041255C>A	uc002vbl.3	-	c.717G>T	c.(715-717)CTG>CTT	p.L239L	GPR1_uc010fue.2_Silent_p.L239L|GPR1_uc010fuf.2_Silent_p.L239L	NM_005279	NP_005270	P46091	GPR1_HUMAN	G protein-coupled receptor 1	239	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)										0.083333	0.054249	14.882397	7	77	KEEP	---	---	---	---	capture		Silent	SNP	207041255	207041255	6895	2	C	A	A	A	366	29	GPR1	2	2
DYTN	391475	broad.mit.edu	37	2	207564941	207564941	+	Splice_Site_SNP	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207564941C>A	uc002vbr.1	-	c.484_splice	c.e6-1	p.I162_splice		NM_001093730	NP_001087199			dystrotelin							plasma membrane	zinc ion binding			ovary(1)	1				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)										0.072165	-3.258283	15.026709	7	90	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	207564941	207564941	5047	2	C	A	A	A	416	32	DYTN	5	2
APOB	338	broad.mit.edu	37	2	21229397	21229397	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21229397G>T	uc002red.2	-	c.10343C>A	c.(10342-10344)ACC>AAC	p.T3448N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3448	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.067901	-13.999591	48.598572	22	302	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21229397	21229397	796	2	G	T	T	T	572	44	APOB	2	2
APOB	338	broad.mit.edu	37	2	21233785	21233785	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21233785G>A	uc002red.2	-	c.5955C>T	c.(5953-5955)ACC>ACT	p.T1985T		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1985					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)									0.066225	-6.451468	22.994877	10	141	KEEP	---	---	---	---	capture		Silent	SNP	21233785	21233785	796	2	G	A	A	A	548	43	APOB	2	2
MARCH4	57574	broad.mit.edu	37	2	217124066	217124066	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:217124066C>T	uc002vgb.2	-	c.1202G>A	c.(1201-1203)CGA>CAA	p.R401Q		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4	401						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)										0.048077	-14.091697	8.530113	5	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	217124066	217124066	9686	2	C	T	T	T	403	31	MARCH4	1	1
PRKAG3	53632	broad.mit.edu	37	2	219695055	219695055	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219695055G>A	uc002vjb.1	-	c.279C>T	c.(277-279)TTC>TTT	p.F93F	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Silent_p.F93F|PRKAG3_uc010zko.1_Silent_p.F89F	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	93					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.106383	1.792097	9.179878	5	42	KEEP	---	---	---	---	capture		Silent	SNP	219695055	219695055	12945	2	G	A	A	A	529	41	PRKAG3	2	2
SPEG	10290	broad.mit.edu	37	2	220333380	220333380	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220333380G>T	uc010fwg.2	+	c.3223G>T	c.(3223-3225)GTG>TTG	p.V1075L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1075	Ig-like 5.				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				0.057692	-3.691642	6.954006	3	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220333380	220333380	15548	2	G	T	T	T	572	44	SPEG	2	2
SPHKAP	80309	broad.mit.edu	37	2	228882479	228882479	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228882479C>A	uc002vpq.2	-	c.3091G>T	c.(3091-3093)GTC>TTC	p.V1031F	SPHKAP_uc002vpp.2_Missense_Mutation_p.V1031F|SPHKAP_uc010zlx.1_Missense_Mutation_p.V1031F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1031						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)										0.065	-8.859757	30.423581	13	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	228882479	228882479	15560	2	C	A	A	A	221	17	SPHKAP	2	2
SAG	6295	broad.mit.edu	37	2	234227423	234227423	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234227423C>A	uc002vuh.2	+	c.163C>A	c.(163-165)CTT>ATT	p.L55I	SAG_uc002vug.2_Non-coding_Transcript|SAG_uc010zmq.1_5'UTR	NM_000541	NP_000532	P10523	ARRS_HUMAN	S-arrestin	55					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			ovary(1)	1		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)										0.081395	-0.99524	29.715833	14	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234227423	234227423	14288	2	C	A	A	A	416	32	SAG	2	2
DNAJB3	414061	broad.mit.edu	37	2	234652384	234652384	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:234652384T>C	uc002vuz.2	-	c.179A>G	c.(178-180)AAG>AGG	p.K60R	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	60	J.				protein folding		heat shock protein binding|unfolded protein binding				0														0.061798	-6.922194	28.727216	11	167	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	234652384	234652384	4804	2	T	C	C	C	728	56	DNAJB3	4	4
HDAC4	9759	broad.mit.edu	37	2	239976512	239976512	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:239976512T>A	uc002vyk.3	-	c.3006A>T	c.(3004-3006)GAA>GAT	p.E1002D	HDAC4_uc010fyy.2_Missense_Mutation_p.E959D	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	1002	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|specific transcriptional repressor activity|transcription activator activity|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)						606				0.084507	-0.515773	24.388026	12	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	239976512	239976512	7292	2	T	A	A	A	829	64	HDAC4	3	3
ALK	238	broad.mit.edu	37	2	29551252	29551252	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:29551252C>A	uc002rmy.2	-	c.1378G>T	c.(1378-1380)GAC>TAC	p.D460Y		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	460	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				0.094118	2.231983	16.309557	8	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29551252	29551252	528	2	C	A	A	A	390	30	ALK	2	2
STRN	6801	broad.mit.edu	37	2	37076763	37076763	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:37076763C>T	uc002rpn.2	-	c.2179G>A	c.(2179-2181)GAC>AAC	p.D727N	STRN_uc010ezx.2_Missense_Mutation_p.D690N	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	727	WD 5.				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)												0.053763	-9.40925	10.132517	5	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37076763	37076763	15849	2	C	T	T	T	377	29	STRN	2	2
EML4	27436	broad.mit.edu	37	2	42515415	42515415	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:42515415C>G	uc002rsi.2	+	c.1171C>G	c.(1171-1173)CTT>GTT	p.L391V	EML4_uc010fap.2_Missense_Mutation_p.L333V|EML4_uc002rsj.2_Missense_Mutation_p.L80V	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	391	WD 2.				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(191)	lung(191)|ovary(2)|central_nervous_system(1)	194										780				0.036765	-20.241591	11.386233	5	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42515415	42515415	5291	2	C	G	G	G	364	28	EML4	3	3
PSME4	23198	broad.mit.edu	37	2	54159167	54159167	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54159167T>C	uc002rxp.2	-	c.1121A>G	c.(1120-1122)AAG>AGG	p.K374R	PSME4_uc010yop.1_Missense_Mutation_p.K260R|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	374					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)											0.111888	21.282766	42.609062	16	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54159167	54159167	13162	2	T	C	C	C	728	56	PSME4	4	4
ACYP2	98	broad.mit.edu	37	2	54365795	54365795	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54365795G>C	uc002rxq.3	+	c.95G>C	c.(94-96)AGG>ACG	p.R32T		NM_138448	NP_612457	P14621	ACYP2_HUMAN	acylphosphatase 2	32	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity				0														0.092308	3.095065	13.981111	6	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54365795	54365795	230	2	G	C	C	C	455	35	ACYP2	3	3
SPTBN1	6711	broad.mit.edu	37	2	54839363	54839363	+	Silent	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:54839363C>T	uc002rxu.2	+	c.366C>T	c.(364-366)TTC>TTT	p.F122F	SPTBN1_uc002rxv.1_Silent_p.F122F|SPTBN1_uc002rxx.2_Silent_p.F109F	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	122	CH 1.|Actin-binding.				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)											0.047297	-17.902028	14.406027	7	141	KEEP	---	---	---	---	capture		Silent	SNP	54839363	54839363	15633	2	C	T	T	T	389	30	SPTBN1	2	2
USP34	9736	broad.mit.edu	37	2	61484357	61484357	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:61484357T>A	uc002sbe.2	-	c.5973A>T	c.(5971-5973)GAA>GAT	p.E1991D	USP34_uc002sbf.2_Missense_Mutation_p.E141D	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	1991					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(8)|breast(1)	9			Epithelial(17;0.229)											0.097902	10.735703	33.88504	14	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61484357	61484357	17629	2	T	A	A	A	725	56	USP34	3	3
USP34	9736	broad.mit.edu	37	2	61566728	61566728	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:61566728C>G	uc002sbe.2	-	c.2589G>C	c.(2587-2589)TTG>TTC	p.L863F		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	863					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(8)|breast(1)	9			Epithelial(17;0.229)											0.065789	-0.990779	13.879384	5	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61566728	61566728	17629	2	C	G	G	G	220	17	USP34	3	3
ANTXR1	84168	broad.mit.edu	37	2	69304562	69304562	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69304562A>C	uc002sfg.2	+	c.584A>C	c.(583-585)AAG>ACG	p.K195T	ANTXR1_uc002sfe.2_Missense_Mutation_p.K195T|ANTXR1_uc002sff.2_Missense_Mutation_p.K195T|ANTXR1_uc002sfd.2_Missense_Mutation_p.K195T	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	195	Extracellular (Potential).|VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)	2														0.065574	-16.257484	19.650951	12	171	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69304562	69304562	719	2	A	C	C	C	39	3	ANTXR1	4	4
DYSF	8291	broad.mit.edu	37	2	71795382	71795382	+	Silent	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:71795382G>C	uc010fen.2	+	c.2778G>C	c.(2776-2778)ACG>ACC	p.T926T	DYSF_uc010feg.2_Silent_p.T939T|DYSF_uc010feh.2_Silent_p.T894T|DYSF_uc002sig.3_Silent_p.T894T|DYSF_uc010yqx.1_Non-coding_Transcript|DYSF_uc010fee.2_Silent_p.T908T|DYSF_uc010fef.2_Silent_p.T925T|DYSF_uc002sie.2_Silent_p.T908T|DYSF_uc010fei.2_Silent_p.T925T|DYSF_uc010fek.2_Silent_p.T926T|DYSF_uc010fej.2_Silent_p.T895T|DYSF_uc010fel.2_Silent_p.T895T|DYSF_uc010feo.2_Silent_p.T940T|DYSF_uc010fem.2_Silent_p.T909T|DYSF_uc002sif.2_Silent_p.T909T	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	dysferlin isoform 1	908	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)	6														0.052874	-37.583073	54.226543	23	412	KEEP	---	---	---	---	capture		Silent	SNP	71795382	71795382	5045	2	G	C	C	C	496	39	DYSF	3	3
ACTG2	72	broad.mit.edu	37	2	74140676	74140676	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74140676G>T	uc002sjw.2	+	c.516G>T	c.(514-516)CTG>CTT	p.L172L	ACTG2_uc010fey.2_Silent_p.L172L|ACTG2_uc010yrn.1_Silent_p.L129L	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	172					muscle contraction	cytoskeleton|cytosol	ATP binding				0														0.036697	-17.45861	7.87011	4	105	KEEP	---	---	---	---	capture		Silent	SNP	74140676	74140676	198	2	G	T	T	T	587	46	ACTG2	2	2
DCTN1	1639	broad.mit.edu	37	2	74593020	74593020	+	Silent	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:74593020C>T	uc002skx.2	-	c.2886G>A	c.(2884-2886)AAG>AAA	p.K962K	SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Silent_p.K828K|DCTN1_uc002sku.2_Silent_p.K828K|DCTN1_uc002skw.1_Silent_p.K938K|DCTN1_uc010ffd.2_Silent_p.K942K|DCTN1_uc002sky.2_Silent_p.K925K	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	962	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)	3														0.063348	-11.642017	32.238927	14	207	KEEP	---	---	---	---	capture		Silent	SNP	74593020	74593020	4477	2	C	T	T	T	311	24	DCTN1	2	2
MRPL35	51318	broad.mit.edu	37	2	86433312	86433312	+	Missense_Mutation	SNP	A	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:86433312A>C	uc002srg.3	+	c.127A>C	c.(127-129)ACT>CCT	p.T43P	MRPL35_uc002srf.3_Missense_Mutation_p.T43P	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35 isoform a	43					translation	mitochondrial ribosome	structural constituent of ribosome				0														0.084806	15.394653	64.880372	24	259	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86433312	86433312	10191	2	A	C	C	C	78	6	MRPL35	4	4
IGSF11	152404	broad.mit.edu	37	3	118623644	118623644	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:118623644G>A	uc003ebw.2	-	c.705C>T	c.(703-705)CCC>CCT	p.P235P	IGSF11_uc011biv.1_Intron|IGSF11_uc003ebx.2_Silent_p.A211A|IGSF11_uc003eby.2_Silent_p.P234P|IGSF11_uc003ebz.2_Silent_p.A210A|IGSF11_uc010hqs.2_Silent_p.P234P	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	235	Extracellular (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0														0.080189	3.335356	41.415748	17	195	KEEP	---	---	---	---	capture		Silent	SNP	118623644	118623644	7899	3	G	A	A	A	548	43	IGSF11	2	2
PARP9	83666	broad.mit.edu	37	3	122274537	122274537	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122274537C>A	uc010hri.2	-	c.586G>T	c.(586-588)GCT>TCT	p.A196S	PARP9_uc003eff.3_Missense_Mutation_p.A161S|PARP9_uc011bjs.1_Missense_Mutation_p.A161S|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.A161S|PARP9_uc003efh.2_Missense_Mutation_p.A196S|PARP9_uc003efj.2_Missense_Mutation_p.A161S	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	196	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(114;0.0519)						175				0.064516	-4.354958	7.873665	4	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122274537	122274537	11883	3	C	A	A	A	325	25	PARP9	2	2
RHO	6010	broad.mit.edu	37	3	129251250	129251250	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:129251250C>A	uc003emt.2	+	c.687C>A	c.(685-687)ACC>ACA	p.T229T		NM_000539	NP_000530	P08100	OPSD_HUMAN	rhodopsin	229	Helical; Name=5; (Potential).				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding				0		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	Esophageal Squamous(118;214 1623 30842 43234 46940)								0.083333	2.227808	21.252654	9	99	KEEP	---	---	---	---	capture		Silent	SNP	129251250	129251250	13805	3	C	A	A	A	288	23	RHO	1	1
CLRN1	7401	broad.mit.edu	37	3	150690263	150690263	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:150690263G>C	uc003eyk.1	-	c.233C>G	c.(232-234)GCA>GGA	p.A78G	CLRN1OS_uc011bny.1_Intron|CLRN1OS_uc003eyl.2_5'Flank	NM_174878	NP_777367	P58418	CLRN1_HUMAN	clarin 1 isoform a	78					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane					0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)											0.051546	-8.30362	12.335289	5	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150690263	150690263	3695	3	G	C	C	C	598	46	CLRN1	3	3
PPM1L	151742	broad.mit.edu	37	3	160474182	160474182	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:160474182T>C	uc003fdr.2	+	c.86T>C	c.(85-87)CTG>CCG	p.L29P		NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	protein phosphatase 1 (formerly 2C)-like	29	Helical; (Potential).				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity				0			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			Pancreas(86;250 1994 13715 43211)								0.153846	31.428869	43.347851	16	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	160474182	160474182	12779	3	T	C	C	C	715	55	PPM1L	4	4
SI	6476	broad.mit.edu	37	3	164709251	164709251	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164709251G>T	uc003fei.2	-	c.4998C>A	c.(4996-4998)GGC>GGA	p.G1666G		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1666	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.108108	7.09312	18.320564	8	66	KEEP	---	---	---	---	capture		Silent	SNP	164709251	164709251	14792	3	G	T	T	T	483	38	SI	1	1
HTR3E	285242	broad.mit.edu	37	3	183822012	183822012	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183822012G>A	uc010hxr.2	+	c.322G>A	c.(322-324)GAG>AAG	p.E108K	HTR3E_uc010hxq.2_Missense_Mutation_p.E108K|HTR3E_uc003fml.3_Missense_Mutation_p.E93K|HTR3E_uc003fmm.2_Missense_Mutation_p.E123K|HTR3E_uc003fmn.2_Missense_Mutation_p.E108K	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine receptor 3 subunit E	108	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)								0.076923	-0.708365	6.440932	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183822012	183822012	7748	3	G	A	A	A	585	45	HTR3E	2	2
CNTN4	152330	broad.mit.edu	37	3	2942376	2942376	+	Silent	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:2942376T>A	uc003bpc.2	+	c.948T>A	c.(946-948)CCT>CCA	p.P316P	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.P316P|CNTN4_uc003bpe.2_5'UTR|CNTN4_uc003bpf.2_5'UTR	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	316	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)										0.026144	-30.340121	7.671011	4	149	KEEP	---	---	---	---	capture		Silent	SNP	2942376	2942376	3781	3	T	A	A	A	678	53	CNTN4	3	3
KIF9	64147	broad.mit.edu	37	3	47289507	47289507	+	Splice_Site_SNP	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47289507C>A	uc010hjp.2	-	c.1128_splice	c.e12+1	p.L376_splice	KIF9_uc003cqx.2_Splice_Site_SNP_p.L376_splice|KIF9_uc003cqy.2_Splice_Site_SNP_p.L376_splice|KIF9_uc011bat.1_Splice_Site_SNP|KIF9_uc011bau.1_Splice_Site_SNP	NM_001134878	NP_001128350			kinesin family member 9 isoform 2						blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		Colon(44;962 1147 15977 24541)								0.096774	14.433698	44.717799	18	168	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	47289507	47289507	8621	3	C	A	A	A	234	18	KIF9	5	2
OR5K1	26339	broad.mit.edu	37	3	98188903	98188903	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:98188903G>T	uc003dsm.2	+	c.483G>T	c.(481-483)GGG>GGT	p.G161G		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	161	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.028497	-75.44478	18.977434	11	375	KEEP	---	---	---	---	capture		Silent	SNP	98188903	98188903	11576	3	G	T	T	T	535	42	OR5K1	2	2
UBE2D3	7323	broad.mit.edu	37	4	103723775	103723775	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103723775G>A	uc003hwq.2	-	c.147C>T	c.(145-147)GGC>GGT	p.G49G	UBE2D3_uc003hwi.2_Silent_p.G47G|UBE2D3_uc003hwj.2_Non-coding_Transcript|UBE2D3_uc003hwk.2_Silent_p.G47G|UBE2D3_uc003hwl.2_Silent_p.G47G|UBE2D3_uc011cet.1_Silent_p.G47G|UBE2D3_uc011ceu.1_Silent_p.G47G|UBE2D3_uc003hwo.2_Silent_p.G47G|UBE2D3_uc003hwp.2_Silent_p.G47G|UBE2D3_uc003hwr.2_Silent_p.G47G	NM_181893	NP_871622	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3 isoform 3	47					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|post-translational protein modification|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)										0.043165	-22.136377	8.963392	6	133	KEEP	---	---	---	---	capture		Silent	SNP	103723775	103723775	17407	4	G	A	A	A	483	38	UBE2D3	1	1
NHEDC1	150159	broad.mit.edu	37	4	103910990	103910990	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:103910990G>C	uc003hww.2	-	c.178C>G	c.(178-180)CTA>GTA	p.L60V	NHEDC1_uc003hwu.2_Missense_Mutation_p.L60V|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_Non-coding_Transcript|NHEDC1_uc011cev.1_Intron	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	60						integral to membrane	solute:hydrogen antiporter activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)										0.171875	28.683356	35.195432	11	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103910990	103910990	10800	4	G	C	C	C	425	33	NHEDC1	3	3
ANK2	287	broad.mit.edu	37	4	114177071	114177071	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114177071C>A	uc003ibe.3	+	c.1171C>A	c.(1171-1173)CCG>ACG	p.P391T	ANK2_uc003ibd.3_Missense_Mutation_p.P370T|ANK2_uc003ibf.3_Missense_Mutation_p.P391T|ANK2_uc003ibc.2_Missense_Mutation_p.P367T|ANK2_uc011cgb.1_Missense_Mutation_p.P406T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	391	ANK 11.				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)										0.0625	-8.649803	16.833008	8	120	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114177071	114177071	624	4	C	A	A	A	390	30	ANK2	2	2
FGB	2244	broad.mit.edu	37	4	155487719	155487719	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:155487719G>T	uc003ioa.3	+	c.385G>T	c.(385-387)GAG>TAG	p.E129*	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc003iob.3_Nonsense_Mutation_p.E126*|FGB_uc010ipv.2_Nonsense_Mutation_p.E67*|FGB_uc010ipw.2_Nonsense_Mutation_p.E126*|FGB_uc003ioc.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	129					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)	2	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	NSCLC(106;1133 1613 21870 46110 52656)								0.036585	-26.996856	11.197563	6	158	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	155487719	155487719	6068	4	G	T	T	T	585	45	FGB	5	2
TMEM144	55314	broad.mit.edu	37	4	159162701	159162701	+	Missense_Mutation	SNP	T	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:159162701T>G	uc003ipx.2	+	c.843T>G	c.(841-843)TGT>TGG	p.C281W	TMEM144_uc010iqi.2_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	281	Helical; (Potential).					integral to membrane					0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)										0.09	19.788051	70.72891	27	273	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159162701	159162701	16590	4	T	G	G	G	777	60	TMEM144	4	4
DDX60L	91351	broad.mit.edu	37	4	169300609	169300609	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:169300609G>A	uc003irq.3	-	c.4268C>T	c.(4267-4269)GCA>GTA	p.A1423V		NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1423							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)										0.127273	9.084828	16.53821	7	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	169300609	169300609	4550	4	G	A	A	A	598	46	DDX60L	2	2
MFAP3L	9848	broad.mit.edu	37	4	170912688	170912688	+	Silent	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:170912688T>A	uc003isp.3	-	c.1071A>T	c.(1069-1071)GCA>GCT	p.A357A	MFAP3L_uc003isn.3_Silent_p.A254A	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	357	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)										0.062069	-7.540729	21.451164	9	136	KEEP	---	---	---	---	capture		Silent	SNP	170912688	170912688	9906	4	T	A	A	A	704	55	MFAP3L	3	3
SNX25	83891	broad.mit.edu	37	4	186209166	186209166	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:186209166G>T	uc003ixh.2	+	c.600G>T	c.(598-600)AGG>AGT	p.R200S		NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	200					cell communication|protein transport		phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)										0.063291	-5.768739	9.899627	5	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186209166	186209166	15396	4	G	T	T	T	568	44	SNX25	2	2
ZFYVE28	57732	broad.mit.edu	37	4	2321937	2321937	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:2321937C>G	uc003gex.1	-	c.763G>C	c.(763-765)GAG>CAG	p.E255Q	ZFYVE28_uc011bvk.1_Missense_Mutation_p.E185Q|ZFYVE28_uc011bvl.1_Missense_Mutation_p.E225Q|ZFYVE28_uc003gew.1_Missense_Mutation_p.E141Q	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	255					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	phosphatidylinositol-3-phosphate binding|protein binding|zinc ion binding			ovary(1)	1														0.12963	9.568704	16.830048	7	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2321937	2321937	18260	4	C	G	G	G	403	31	ZFYVE28	3	3
KDR	3791	broad.mit.edu	37	4	55953774	55953774	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:55953774C>A	uc003has.2	-	c.3662G>T	c.(3661-3663)AGT>ATT	p.S1221I	KDR_uc003hat.1_Missense_Mutation_p.S1221I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1221	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)			0.090909	0.877968	12.093092	6	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55953774	55953774	8445	4	C	A	A	A	312	24	KDR	2	2
EVC2	132884	broad.mit.edu	37	4	5693029	5693029	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5693029G>A	uc003gij.2	-	c.482C>T	c.(481-483)ACT>ATT	p.T161I	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.T81I	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	161						integral to membrane				large_intestine(3)|ovary(2)	5														0.032895	-26.563373	9.646593	5	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5693029	5693029	5479	4	G	A	A	A	468	36	EVC2	2	2
PPEF2	5470	broad.mit.edu	37	4	76797517	76797517	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:76797517C>A	uc003hix.2	-	c.1243G>T	c.(1243-1245)GAG>TAG	p.E415*	PPEF2_uc003hiy.2_Non-coding_Transcript|PPEF2_uc003hiz.1_Nonsense_Mutation_p.E415*	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	415	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			NSCLC(105;1359 1603 15961 44567 47947)								0.12987	10.613087	20.874557	10	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	76797517	76797517	12738	4	C	A	A	A	390	30	PPEF2	5	2
MRPL1	65008	broad.mit.edu	37	4	78830509	78830509	+	Nonsense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:78830509C>T	uc003hku.2	+	c.760C>T	c.(760-762)CAG>TAG	p.Q254*	MRPL1_uc010iji.1_Nonsense_Mutation_p.Q177*	NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1 precursor	254					RNA processing		RNA binding				0														0.05	-16.9927	13.083372	7	133	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	78830509	78830509	10167	4	C	T	T	T	273	21	MRPL1	5	2
ABCG2	9429	broad.mit.edu	37	4	89039396	89039396	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89039396G>T	uc003hrg.2	-	c.706C>A	c.(706-708)CGA>AGA	p.R236R	ABCG2_uc003hrh.2_Silent_p.R236R|ABCG2_uc003hrf.2_Silent_p.R106R	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G, member 2	236	ABC transporter.|Cytoplasmic (Potential).				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)									0.04717	-12.30369	10.840799	5	101	KEEP	---	---	---	---	capture		Silent	SNP	89039396	89039396	70	4	G	T	T	T	519	40	ABCG2	1	1
GRID2	2895	broad.mit.edu	37	4	94376951	94376951	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94376951C>A	uc011cdt.1	+	c.1684C>A	c.(1684-1686)CTT>ATT	p.L562I	GRID2_uc011cdu.1_Missense_Mutation_p.L467I	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	562	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)									0.036199	-40.879048	11.28141	8	213	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94376951	94376951	7050	4	C	A	A	A	416	32	GRID2	2	2
MARCH6	10299	broad.mit.edu	37	5	10410252	10410252	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:10410252G>A	uc003jet.1	+	c.1555G>A	c.(1555-1557)GAT>AAT	p.D519N	MARCH6_uc011cmu.1_Missense_Mutation_p.D471N|MARCH6_uc003jeu.1_Missense_Mutation_p.D217N|MARCH6_uc011cmv.1_Missense_Mutation_p.D414N	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	519	Extracellular (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding				0														0.212598	122.798907	142.19743	54	200	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10410252	10410252	9688	5	G	A	A	A	585	45	MARCH6	2	2
MEGF10	84466	broad.mit.edu	37	5	126754829	126754829	+	Silent	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126754829C>G	uc003kuh.3	+	c.1323C>G	c.(1321-1323)ACC>ACG	p.T441T	MEGF10_uc010jdc.1_Silent_p.T441T|MEGF10_uc010jdd.1_Silent_p.T441T|MEGF10_uc003kui.3_Silent_p.T441T	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	441	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)										0.060465	-14.49281	28.904111	13	202	KEEP	---	---	---	---	capture		Silent	SNP	126754829	126754829	9849	5	C	G	G	G	275	22	MEGF10	3	3
MEGF10	84466	broad.mit.edu	37	5	126792950	126792950	+	Silent	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:126792950C>T	uc003kuh.3	+	c.3363C>T	c.(3361-3363)TCC>TCT	p.S1121S	MEGF10_uc003kui.3_Silent_p.S1121S	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	1121	Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.|Ser-rich.				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)										0.166667	12.8259	16.619226	6	30	KEEP	---	---	---	---	capture		Silent	SNP	126792950	126792950	9849	5	C	T	T	T	301	24	MEGF10	2	2
SEC24A	10802	broad.mit.edu	37	5	134002584	134002584	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:134002584C>T	uc003kzs.2	+	c.637C>T	c.(637-639)CCT>TCT	p.P213S	SEC24A_uc011cxu.1_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	213	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)											0.097826	7.312679	22.202123	9	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134002584	134002584	14480	5	C	T	T	T	286	22	SEC24A	2	2
PCDHA2	56146	broad.mit.edu	37	5	140175994	140175994	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140175994C>T	uc003lhd.2	+	c.1445C>T	c.(1444-1446)GCG>GTG	p.A482V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A482V|PCDHA2_uc011czy.1_Missense_Mutation_p.A482V	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	482	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.052632	-5.716479	6.330893	3	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140175994	140175994	11944	5	C	T	T	T	351	27	PCDHA2	1	1
PCDHA3	56145	broad.mit.edu	37	5	140181956	140181956	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140181956C>A	uc003lhf.2	+	c.1174C>A	c.(1174-1176)CAC>AAC	p.H392N	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.H392N	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	392	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(5)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.046729	-13.411638	10.020981	5	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140181956	140181956	11945	5	C	A	A	A	273	21	PCDHA3	2	2
PCDHA9	9752	broad.mit.edu	37	5	140229827	140229828	+	Missense_Mutation	DNP	CG	AA	AA			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140229827_140229828CG>AA	uc003lhu.2	+	c.1747_1748CG>AA	c.(1747-1749)CGG>AAG	p.R583K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.R583K	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	583	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Melanoma(55;1800 1972 14909)								0.06	-3.814291	6.306561	3	47	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	140229827	140229828	11951	5	CG	AA	AA	AA	347	27	PCDHA9	1	1
PCDHA11	56138	broad.mit.edu	37	5	140249814	140249814	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140249814C>A	uc003lia.2	+	c.1126C>A	c.(1126-1128)CGT>AGT	p.R376S	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.R376S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	376	Cadherin 4.|Extracellular (Potential).				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)											0.113208	16.427016	32.071221	12	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140249814	140249814	11941	5	C	A	A	A	299	23	PCDHA11	1	1
RANBP17	64901	broad.mit.edu	37	5	170640697	170640697	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:170640697G>T	uc003mba.2	+	c.2294G>T	c.(2293-2295)TGT>TTT	p.C765F	RANBP17_uc003mbb.2_Missense_Mutation_p.C90F|RANBP17_uc003mbd.2_Missense_Mutation_p.C128F|RANBP17_uc010jjs.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	765					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				0.100775	24.752041	65.800168	26	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	170640697	170640697	13487	5	G	T	T	T	624	48	RANBP17	2	2
OR2Y1	134083	broad.mit.edu	37	5	180166174	180166174	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:180166174G>A	uc003mmf.1	-	c.885C>T	c.(883-885)GAC>GAT	p.D295D		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)											0.033473	-41.273991	15.414802	8	231	KEEP	---	---	---	---	capture		Silent	SNP	180166174	180166174	11441	5	G	A	A	A	516	40	OR2Y1	1	1
PRDM9	56979	broad.mit.edu	37	5	23522766	23522766	+	Silent	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:23522766C>G	uc003jgo.2	+	c.654C>G	c.(652-654)GCC>GCG	p.A218A		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	218					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6														0.192308	33.579455	40.477891	15	63	KEEP	---	---	---	---	capture		Silent	SNP	23522766	23522766	12906	5	C	G	G	G	275	22	PRDM9	3	3
CDH9	1007	broad.mit.edu	37	5	26906121	26906121	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:26906121G>T	uc003jgs.1	-	c.758C>A	c.(757-759)ACA>AAA	p.T253K	CDH9_uc010iug.2_Missense_Mutation_p.T253K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	253	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)	5						Melanoma(8;187 585 15745 40864 52829)								0.059375	-21.952391	43.077844	19	301	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26906121	26906121	3246	5	G	T	T	T	624	48	CDH9	2	2
NPR3	4883	broad.mit.edu	37	5	32786366	32786366	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:32786366G>T	uc003jhv.2	+	c.1541G>T	c.(1540-1542)AGG>ATG	p.R514M	NPR3_uc011cnz.1_Missense_Mutation_p.R297M|NPR3_uc003jhu.2_Missense_Mutation_p.R513M|C5orf23_uc003jhw.1_5'Flank	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	514	Cytoplasmic (Potential).				diuresis|osteoclast proliferation|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)									0.333333	16.84344	17.286531	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32786366	32786366	11001	5	G	T	T	T	455	35	NPR3	2	2
TARS	6897	broad.mit.edu	37	5	33445440	33445440	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33445440G>T	uc011coc.1	+	c.32G>T	c.(31-33)GGT>GTT	p.G11V	TARS_uc011cob.1_Missense_Mutation_p.G11V|TARS_uc010iup.1_5'UTR|TARS_uc003jhy.2_Missense_Mutation_p.G23V|TARS_uc003jhz.2_5'UTR|TARS_uc011cod.1_5'UTR	NM_152295	NP_689508	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	23					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			ovary(2)	2					L-Threonine(DB00156)									0.193548	12.332834	15.049516	6	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33445440	33445440	16081	5	G	T	T	T	572	44	TARS	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33546167	33546167	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33546167G>T	uc003jia.1	-	c.4443C>A	c.(4441-4443)GAC>GAA	p.D1481E	ADAMTS12_uc010iuq.1_Missense_Mutation_p.D1396E	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1481	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.070968	-5.036638	24.321801	11	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33546167	33546167	258	5	G	T	T	T	568	44	ADAMTS12	2	2
RAI14	26064	broad.mit.edu	37	5	34823639	34823639	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:34823639G>T	uc003jis.2	+	c.1701G>T	c.(1699-1701)GAG>GAT	p.E567D	RAI14_uc003jir.2_Missense_Mutation_p.E564D|RAI14_uc010iur.2_Missense_Mutation_p.E535D|RAI14_uc011coj.1_Missense_Mutation_p.E564D|RAI14_uc003jit.2_Missense_Mutation_p.E564D|RAI14_uc011cok.1_Missense_Mutation_p.E556D	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform d	564	Potential.					cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)													0.073394	-5.784348	14.6163	8	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34823639	34823639	13468	5	G	T	T	T	425	33	RAI14	2	2
NIPBL	25836	broad.mit.edu	37	5	36955648	36955648	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:36955648G>C	uc003jkl.3	+	c.139G>C	c.(139-141)GCA>CCA	p.A47P	NIPBL_uc003jkk.3_Missense_Mutation_p.A47P	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	47					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				0.258621	178.57792	190.834733	60	172	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36955648	36955648	10829	5	G	C	C	C	442	34	NIPBL	3	3
NIPBL	25836	broad.mit.edu	37	5	37049220	37049220	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:37049220A>T	uc003jkl.3	+	c.6771A>T	c.(6769-6771)AAA>AAT	p.K2257N	NIPBL_uc003jkk.3_Missense_Mutation_p.K2257N|NIPBL_uc003jkn.2_5'Flank	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	2257	HEAT 4.				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				0.087786	5.717507	50.756546	23	239	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37049220	37049220	10829	5	A	T	T	T	37	3	NIPBL	3	3
FYB	2533	broad.mit.edu	37	5	39134975	39134975	+	Silent	SNP	T	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:39134975T>G	uc011cpl.1	-	c.1687A>C	c.(1687-1689)AGA>CGA	p.R563R	FYB_uc003jls.2_Silent_p.R553R|FYB_uc003jlt.2_Silent_p.R553R|FYB_uc003jlu.2_Silent_p.R553R	NM_001465	NP_001456	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 1	553	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)											0.112903	13.244298	31.630894	14	110	KEEP	---	---	---	---	capture		Silent	SNP	39134975	39134975	6375	5	T	G	G	G	713	55	FYB	4	4
ZNF366	167465	broad.mit.edu	37	5	71756814	71756814	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:71756814C>A	uc003kce.1	-	c.510G>T	c.(508-510)CTG>CTT	p.L170L		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)										0.108333	11.600239	29.837933	13	107	KEEP	---	---	---	---	capture		Silent	SNP	71756814	71756814	18462	5	C	A	A	A	314	25	ZNF366	2	2
FAM169A	26049	broad.mit.edu	37	5	74100403	74100403	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:74100403G>T	uc003kdm.2	-	c.827C>A	c.(826-828)CCT>CAT	p.P276H	FAM169A_uc010izm.2_Missense_Mutation_p.P216H|FAM169A_uc003kdl.2_Missense_Mutation_p.P94H	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	hypothetical protein LOC26049	276											0														0.066667	-6.569469	22.623954	10	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74100403	74100403	5691	5	G	T	T	T	455	35	FAM169A	2	2
BCLAF1	9774	broad.mit.edu	37	6	136597201	136597201	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:136597201T>A	uc003qgx.1	-	c.1462A>T	c.(1462-1464)ATA>TTA	p.I488L	BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.I486L|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.I486L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	488					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|transcription repressor activity			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		Colon(142;1534 1789 5427 7063 28491)								0.045699	-48.446194	33.558004	17	355	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136597201	136597201	1404	6	T	A	A	A	676	52	BCLAF1	3	3
CCDC28A	25901	broad.mit.edu	37	6	139097279	139097279	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:139097279A>G	uc003qie.2	+	c.292A>G	c.(292-294)AGG>GGG	p.R98G		NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	98											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)										0.178862	49.388093	61.317557	22	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	139097279	139097279	2924	6	A	G	G	G	140	11	CCDC28A	4	4
SYNE1	23345	broad.mit.edu	37	6	152725441	152725441	+	Silent	SNP	A	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:152725441A>C	uc010kiw.2	-	c.6732T>G	c.(6730-6732)GTT>GTG	p.V2244V	SYNE1_uc003qot.3_Silent_p.V2251V|SYNE1_uc003qou.3_Silent_p.V2244V|SYNE1_uc010kjb.1_Silent_p.V2227V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2244	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)										0.060811	-4.345614	25.465148	9	139	KEEP	---	---	---	---	capture		Silent	SNP	152725441	152725441	15966	6	A	C	C	C	158	13	SYNE1	4	4
RBM16	22828	broad.mit.edu	37	6	155152133	155152133	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:155152133G>T	uc011efj.1	+	c.2416G>T	c.(2416-2418)GGT>TGT	p.G806C	TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efk.1_Missense_Mutation_p.G785C|RBM16_uc003qqa.2_Missense_Mutation_p.G740C|RBM16_uc003qpz.2_Missense_Mutation_p.G740C|RBM16_uc010kji.2_Missense_Mutation_p.G761C	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	RNA-binding motif protein 16	740	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)										0.108844	18.288864	40.573257	16	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155152133	155152133	13579	6	G	T	T	T	507	39	RBM16	1	1
MAP3K4	4216	broad.mit.edu	37	6	161508882	161508882	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161508882G>T	uc003qtn.2	+	c.2719G>T	c.(2719-2721)GGT>TGT	p.G907C	MAP3K4_uc010kkc.1_Missense_Mutation_p.G907C|MAP3K4_uc003qto.2_Missense_Mutation_p.G907C|MAP3K4_uc011efz.1_Non-coding_Transcript|MAP3K4_uc011ega.1_Missense_Mutation_p.G360C	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	907					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)						511				0.17037	46.449172	60.318709	23	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	161508882	161508882	9635	6	G	T	T	T	507	39	MAP3K4	1	1
PDE10A	10846	broad.mit.edu	37	6	165792703	165792703	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:165792703G>T	uc003quo.2	-	c.1965C>A	c.(1963-1965)AAC>AAA	p.N655K	PDE10A_uc011egj.1_Non-coding_Transcript|PDE10A_uc011egk.1_Missense_Mutation_p.N575K|PDE10A_uc003qun.2_Missense_Mutation_p.N645K	NM_001130690	NP_001124162	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 1	645					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)	3		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	Esophageal Squamous(22;308 615 5753 12038 40624)								0.078212	-2.883057	29.668692	14	165	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165792703	165792703	12051	6	G	T	T	T	568	44	PDE10A	2	2
KLHL31	401265	broad.mit.edu	37	6	53519984	53519984	+	Silent	SNP	T	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:53519984T>C	uc003pcb.3	-	c.87A>G	c.(85-87)AAA>AAG	p.K29K		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)													0.06383	-2.02503	16.574044	6	88	KEEP	---	---	---	---	capture		Silent	SNP	53519984	53519984	8698	6	T	C	C	C	777	60	KLHL31	4	4
DST	667	broad.mit.edu	37	6	56418454	56418454	+	Splice_Site_SNP	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:56418454C>G	uc003pdf.2	-	c.8780_splice	c.e55-1	p.E2927_splice	DST_uc003pcz.3_Splice_Site_SNP_p.E2749_splice|DST_uc011dxj.1_Splice_Site_SNP_p.E2778_splice|DST_uc011dxk.1_Splice_Site_SNP_p.E2789_splice|DST_uc003pcy.3_Splice_Site_SNP_p.E2423_splice	NM_001144769	NP_001138241			dystonin isoform 2						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				0.093333	6.464772	18.938411	7	68	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	56418454	56418454	4967	6	C	G	G	G	416	32	DST	5	3
GJA10	84694	broad.mit.edu	37	6	90604267	90604267	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90604267C>A	uc011eaa.1	+	c.80C>A	c.(79-81)ACC>AAC	p.T27N		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	27	Helical; (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)										0.108571	14.495765	41.094551	19	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90604267	90604267	6669	6	C	A	A	A	234	18	GJA10	2	2
EPHA7	2045	broad.mit.edu	37	6	94120814	94120814	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:94120814G>T	uc003poe.2	-	c.237C>A	c.(235-237)CCC>CCA	p.P79P	EPHA7_uc003pof.2_Silent_p.P79P|EPHA7_uc011eac.1_Silent_p.P79P|EPHA7_uc003pog.3_Silent_p.P79P	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	79	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				0.067708	-8.567573	28.563436	13	179	KEEP	---	---	---	---	capture		Silent	SNP	94120814	94120814	5365	6	G	T	T	T	600	47	EPHA7	2	2
MUC17	140453	broad.mit.edu	37	7	100677757	100677757	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100677757C>A	uc003uxp.1	+	c.3060C>A	c.(3058-3060)GCC>GCA	p.A1020A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1020	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|breast(3)|lung(2)	19	Lung NSC(181;0.136)|all_lung(186;0.182)													0.037464	-110.166829	50.610921	26	668	KEEP	---	---	---	---	capture		Silent	SNP	100677757	100677757	10368	7	C	A	A	A	262	21	MUC17	2	2
SH2B2	10603	broad.mit.edu	37	7	101952177	101952177	+	Silent	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:101952177C>T	uc011kko.1	+	c.1041C>T	c.(1039-1041)TGC>TGT	p.C347C		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	304	PH.				blood coagulation|insulin receptor signaling pathway	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity				0														0.070513	-7.082232	22.590437	11	145	KEEP	---	---	---	---	capture		Silent	SNP	101952177	101952177	14719	7	C	T	T	T	350	27	SH2B2	1	1
RELN	5649	broad.mit.edu	37	7	103214661	103214661	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103214661G>T	uc003vca.2	-	c.4389C>A	c.(4387-4389)TAC>TAA	p.Y1463*	RELN_uc010liz.2_Nonsense_Mutation_p.Y1463*	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1463					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)								0.033784	-24.860354	10.20238	5	143	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	103214661	103214661	13689	7	G	T	T	T	620	48	RELN	5	2
RELN	5649	broad.mit.edu	37	7	103301849	103301849	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103301849C>T	uc003vca.2	-	c.1415G>A	c.(1414-1416)GGG>GAG	p.G472E	RELN_uc010liz.2_Missense_Mutation_p.G472E	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	472					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)								0.046512	-15.461837	12.83147	6	123	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103301849	103301849	13689	7	C	T	T	T	286	22	RELN	2	2
PAX4	5078	broad.mit.edu	37	7	127255550	127255550	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127255550C>A	uc010lld.1	-	c.25G>T	c.(25-27)GTG>TTG	p.V9L	PAX4_uc003vmf.2_5'UTR|PAX4_uc003vmg.1_Missense_Mutation_p.V9L|PAX4_uc003vmh.2_5'UTR	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	17	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1						Ovarian(113;737 1605 7858 27720 34092)								0.063492	-3.541705	8.942498	4	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127255550	127255550	11901	7	C	A	A	A	221	17	PAX4	2	2
LEP	3952	broad.mit.edu	37	7	127892140	127892140	+	Silent	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:127892140C>T	uc003vml.2	+	c.69C>T	c.(67-69)CCC>CCT	p.P23P	LEP_uc003vmm.2_Silent_p.P23P	NM_000230	NP_000221	P41159	LEP_HUMAN	leptin precursor	23					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space					0														0.078838	0.845879	44.500795	19	222	KEEP	---	---	---	---	capture		Silent	SNP	127892140	127892140	9051	7	C	T	T	T	262	21	LEP	2	2
FLNC	2318	broad.mit.edu	37	7	128493588	128493588	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:128493588G>T	uc003vnz.3	+	c.6274G>T	c.(6274-6276)GAG>TAG	p.E2092*	FLNC_uc003voa.3_Nonsense_Mutation_p.E2059*	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2092	Filamin 19.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)	10										892				0.088889	-0.127713	7.553303	4	41	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	128493588	128493588	6177	7	G	T	T	T	533	41	FLNC	5	2
MGAM	8972	broad.mit.edu	37	7	141758016	141758016	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141758016C>T	uc003vwy.2	+	c.3707C>T	c.(3706-3708)CCT>CTT	p.P1236L		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1236	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)									0.062249	-25.422788	73.999129	31	467	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141758016	141758016	9931	7	C	T	T	T	312	24	MGAM	2	2
TRYX3	136541	broad.mit.edu	37	7	141955355	141955355	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:141955355G>C	uc003vxb.2	-	c.179C>G	c.(178-180)CCA>CGA	p.P60R	TRYX3_uc003vxc.3_Missense_Mutation_p.P60R	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	trypsin X3 precursor	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0	Melanoma(164;0.0272)													0.07438	-0.12179	22.384252	9	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141955355	141955355	17155	7	G	C	C	C	507	39	TRYX3	3	3
TRPV6	55503	broad.mit.edu	37	7	142574936	142574936	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142574936C>A	uc003wbx.1	-	c.446G>T	c.(445-447)GGC>GTC	p.G149V	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Missense_Mutation_p.G20V	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	149	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(1)	1	Melanoma(164;0.059)													0.107143	2.231886	6.496638	3	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142574936	142574936	17151	7	C	A	A	A	338	26	TRPV6	2	2
KEL	3792	broad.mit.edu	37	7	142651373	142651373	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:142651373C>A	uc003wcb.2	-	c.822G>T	c.(820-822)TTG>TTT	p.L274F		NM_000420	NP_000411	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	274	Extracellular (Potential).				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(3)|central_nervous_system(1)	4	Melanoma(164;0.059)													0.054054	-6.663933	8.853976	4	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142651373	142651373	8448	7	C	A	A	A	220	17	KEL	2	2
CNTNAP2	26047	broad.mit.edu	37	7	147092834	147092834	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147092834C>A	uc003weu.1	+	c.1632C>A	c.(1630-1632)TTC>TTA	p.F544L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	544	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.038462	-35.822873	18.041266	9	225	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147092834	147092834	3785	7	C	A	A	A	402	31	CNTNAP2	1	1
GIMAP8	155038	broad.mit.edu	37	7	150164216	150164216	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150164216C>A	uc003whj.2	+	c.430C>A	c.(430-432)CTG>ATG	p.L144M		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	144						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)										0.075949	-1.616365	12.949132	6	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150164216	150164216	6653	7	C	A	A	A	363	28	GIMAP8	2	2
GIMAP2	26157	broad.mit.edu	37	7	150390208	150390208	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150390208G>C	uc003who.2	+	c.834G>C	c.(832-834)CAG>CAC	p.Q278H	GIMAP1_uc003whp.2_Intron	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	278	Helical; (Potential).					integral to membrane	GTP binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.044776	-8.035482	6.813598	3	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	150390208	150390208	6648	7	G	C	C	C	464	36	GIMAP2	3	3
TMEM195	392636	broad.mit.edu	37	7	15430503	15430503	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:15430503T>A	uc003stb.1	-	c.704A>T	c.(703-705)AAT>ATT	p.N235I		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	235					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														0.208333	24.032436	27.807279	10	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15430503	15430503	16652	7	T	A	A	A	676	52	TMEM195	3	3
FERD3L	222894	broad.mit.edu	37	7	19184745	19184745	+	Nonsense_Mutation	SNP	C	A	A	rs34966908		TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:19184745C>A	uc003suo.1	-	c.241G>T	c.(241-243)GAG>TAG	p.E81*		NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	81	Poly-Glu.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription repressor activity			large_intestine(1)	1														0.189189	13.501441	16.847313	7	30	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	19184745	19184745	6053	7	C	A	A	A	390	30	FERD3L	5	2
HOXA2	3199	broad.mit.edu	37	7	27141063	27141063	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27141063C>A	uc003syh.2	-	c.413G>T	c.(412-414)GGC>GTC	p.G138V		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	138						nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.096774	2.115992	7.154094	3	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27141063	27141063	7584	7	C	A	A	A	338	26	HOXA2	2	2
POU6F2	11281	broad.mit.edu	37	7	39247049	39247049	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:39247049C>A	uc003thb.1	+	c.341C>A	c.(340-342)CCC>CAC	p.P114H	POU6F2_uc010kxo.2_Missense_Mutation_p.P106H	NM_007252	NP_009183	P78424	PO6F2_HUMAN	POU class 6 homeobox 2 isoform 1	114					central nervous system development|ganglion mother cell fate determination|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1														0.096154	1.966045	19.007258	10	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39247049	39247049	12715	7	C	A	A	A	286	22	POU6F2	2	2
HECW1	23072	broad.mit.edu	37	7	43531769	43531769	+	Silent	SNP	A	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:43531769A>G	uc003tid.1	+	c.3330A>G	c.(3328-3330)TCA>TCG	p.S1110S	HECW1_uc011kbi.1_Silent_p.S1076S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1110					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				0.115385	13.621609	24.982148	9	69	KEEP	---	---	---	---	capture		Silent	SNP	43531769	43531769	7325	7	A	G	G	G	93	8	HECW1	4	4
RAMP3	10268	broad.mit.edu	37	7	45222926	45222926	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:45222926C>T	uc003tnb.2	+	c.362C>T	c.(361-363)CCG>CTG	p.P121L	RAMP3_uc003tnc.2_Missense_Mutation_p.P89L	NM_005856	NP_005847	O60896	RAMP3_HUMAN	receptor activity modifying protein 3 precursor	121	Helical; (Potential).				intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity				0					Pramlintide(DB01278)									0.053922	-20.122037	22.690124	11	193	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45222926	45222926	13483	7	C	T	T	T	299	23	RAMP3	1	1
ZNF479	90827	broad.mit.edu	37	7	57188064	57188064	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:57188064T>C	uc010kzo.2	-	c.1058A>G	c.(1057-1059)TAT>TGT	p.Y353C		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	353	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3			GBM - Glioblastoma multiforme(1;9.18e-12)											0.142857	26.752371	37.067222	12	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57188064	57188064	18527	7	T	C	C	C	637	49	ZNF479	4	4
PCLO	27445	broad.mit.edu	37	7	82583786	82583786	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82583786C>A	uc003uhx.2	-	c.6483G>T	c.(6481-6483)TCG>TCT	p.S2161S	PCLO_uc003uhv.2_Silent_p.S2161S|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2092					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														0.05	-9.909846	11.568165	5	95	KEEP	---	---	---	---	capture		Silent	SNP	82583786	82583786	12003	7	C	A	A	A	340	27	PCLO	1	1
CROT	54677	broad.mit.edu	37	7	87005257	87005257	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87005257G>T	uc003uiu.2	+	c.948G>T	c.(946-948)GAG>GAT	p.E316D	CROT_uc003uit.2_Missense_Mutation_p.E288D	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	peroxisomal carnitine O-octanoyltransferase	288					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			ovary(2)|lung(1)	3	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)									0.046512	-22.852559	14.884752	8	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87005257	87005257	4033	7	G	T	T	T	451	35	CROT	2	2
ABCB1	5243	broad.mit.edu	37	7	87179543	87179543	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87179543C>T	uc003uiz.1	-	c.1294G>A	c.(1294-1296)GGG>AGG	p.G432R	ABCB1_uc011khc.1_Missense_Mutation_p.G368R	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	432	ATP 1 (By similarity).|ABC transporter 1.|Cytoplasmic (Potential).					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)									0.1	3.06932	9.463368	4	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87179543	87179543	41	7	C	T	T	T	273	21	ABCB1	2	2
SAMD9	54809	broad.mit.edu	37	7	92731291	92731291	+	Nonsense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92731291C>A	uc003umf.2	-	c.4120G>T	c.(4120-4122)GAA>TAA	p.E1374*	SAMD9_uc003umg.2_Nonsense_Mutation_p.E1374*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1374						cytoplasm				ovary(3)|breast(1)|central_nervous_system(1)	5	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)											0.086124	2.978273	39.264747	18	191	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	92731291	92731291	14306	7	C	A	A	A	416	32	SAMD9	5	2
DYNC1I1	1780	broad.mit.edu	37	7	95616384	95616384	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:95616384G>T	uc003uoc.3	+	c.811G>T	c.(811-813)GCC>TCC	p.A271S	DYNC1I1_uc003uod.3_Missense_Mutation_p.A254S|DYNC1I1_uc003uob.2_Missense_Mutation_p.A234S|DYNC1I1_uc003uoe.3_Missense_Mutation_p.A251S|DYNC1I1_uc010lfl.2_Missense_Mutation_p.A260S	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	271					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)											0.042735	-81.1376	50.112246	25	560	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95616384	95616384	5028	7	G	T	T	T	442	34	DYNC1I1	2	2
LMTK2	22853	broad.mit.edu	37	7	97822649	97822649	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:97822649G>T	uc003upd.1	+	c.2872G>T	c.(2872-2874)GCA>TCA	p.A958S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	958					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)								p.A958T(MKN1-Tumor)|p.A958T(NALM6-Tumor)|p.A958T(KMS34-Tumor)	547				0.068627	-4.759176	14.87277	7	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97822649	97822649	9188	7	G	T	T	T	494	38	LMTK2	1	1
SOX7	83595	broad.mit.edu	37	8	10583456	10583456	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10583456T>A	uc011kwz.1	-	c.1115A>T	c.(1114-1116)CAG>CTG	p.Q372L	SOX7_uc003wtf.2_Missense_Mutation_p.Q320L	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	320	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	promoter binding|transcription repressor activity				0				COAD - Colon adenocarcinoma(149;0.0732)										0.130435	8.117656	14.231764	6	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10583456	10583456	15456	8	T	A	A	A	715	55	SOX7	3	3
TRPS1	7227	broad.mit.edu	37	8	116617157	116617157	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116617157G>C	uc003yny.2	-	c.1039C>G	c.(1039-1041)CGC>GGC	p.R347G	TRPS1_uc011lhy.1_Missense_Mutation_p.R338G|TRPS1_uc010mcy.2_Missense_Mutation_p.R334G|TRPS1_uc003ynz.2_Missense_Mutation_p.R334G	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	334	C2H2-type 2; atypical.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)							312				0.047337	-18.841373	18.036516	8	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116617157	116617157	17144	8	G	C	C	C	507	39	TRPS1	3	3
ZHX1	11244	broad.mit.edu	37	8	124266616	124266616	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:124266616C>A	uc003yqe.2	-	c.1571G>T	c.(1570-1572)AGT>ATT	p.S524I	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.S524I|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.S524I	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	524	Homeobox 2.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)											0.076712	-4.802402	62.182392	28	337	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124266616	124266616	18266	8	C	A	A	A	260	20	ZHX1	2	2
EBF2	64641	broad.mit.edu	37	8	25716008	25716008	+	Missense_Mutation	SNP	T	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:25716008T>C	uc003xes.1	-	c.1355A>G	c.(1354-1356)AAC>AGC	p.N452S	PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	452					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|transcription regulator activity			ovary(3)	3		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)								0.112903	12.578985	21.748165	7	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25716008	25716008	5067	8	T	C	C	C	780	60	EBF2	4	4
CSMD1	64478	broad.mit.edu	37	8	2855612	2855612	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:2855612C>A	uc011kwk.1	-	c.8301G>T	c.(8299-8301)ACG>ACT	p.T2767T	CSMD1_uc011kwj.1_Silent_p.T2096T|CSMD1_uc010lrg.2_Silent_p.T777T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2767	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)										0.066667	-3.587003	11.012069	5	70	KEEP	---	---	---	---	capture		Silent	SNP	2855612	2855612	4085	8	C	A	A	A	288	23	CSMD1	1	1
EXTL3	2137	broad.mit.edu	37	8	28573840	28573840	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:28573840G>T	uc003xgz.1	+	c.264G>T	c.(262-264)TCG>TCT	p.S88S		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	88	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding				0		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)										0.116279	6.545689	12.77505	5	38	KEEP	---	---	---	---	capture		Silent	SNP	28573840	28573840	5521	8	G	T	T	T	496	39	EXTL3	1	1
KCNU1	157855	broad.mit.edu	37	8	36768544	36768544	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:36768544C>A	uc010lvw.2	+	c.2428C>A	c.(2428-2430)CAG>AAG	p.Q810K	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	810	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)										0.137931	12.88573	20.218187	8	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36768544	36768544	8398	8	C	A	A	A	273	21	KCNU1	2	2
BRF2	55290	broad.mit.edu	37	8	37704488	37704488	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37704488C>A	uc003xkk.2	-	c.420G>T	c.(418-420)ACG>ACT	p.T140T		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	RNA polymerase III transcription initiation	140	1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|transcription regulator activity|zinc ion binding				0		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)							145				0.046322	-42.727298	37.839911	17	350	KEEP	---	---	---	---	capture		Silent	SNP	37704488	37704488	1542	8	C	A	A	A	340	27	BRF2	1	1
MYBL1	4603	broad.mit.edu	37	8	67492485	67492485	+	Silent	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:67492485C>T	uc003xwj.2	-	c.984G>A	c.(982-984)CAG>CAA	p.Q328Q	MYBL1_uc003xwl.2_Silent_p.Q328Q|MYBL1_uc003xwk.2_Silent_p.Q327Q	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	328	Negative regulatory domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription activator activity			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)											0.169811	18.939034	24.409241	9	44	KEEP	---	---	---	---	capture		Silent	SNP	67492485	67492485	10404	8	C	T	T	T	363	28	MYBL1	2	2
ZFHX4	79776	broad.mit.edu	37	8	77764798	77764798	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77764798G>T	uc003yav.2	+	c.5506G>T	c.(5506-5508)GAA>TAA	p.E1836*	ZFHX4_uc003yau.1_Nonsense_Mutation_p.E1881*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.E1836*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1836					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)											0.15	5.210726	7.560478	3	17	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	77764798	77764798	18223	8	G	T	T	T	429	33	ZFHX4	5	2
TNKS	8658	broad.mit.edu	37	8	9623218	9623218	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:9623218A>T	uc003wss.2	+	c.3464A>T	c.(3463-3465)AAC>ATC	p.N1155I	TNKS_uc011kww.1_Missense_Mutation_p.N918I	NM_003747	NP_003738	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1155	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein transport|spindle assembly|transmembrane transport	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			ovary(1)|kidney(1)	2				COAD - Colon adenocarcinoma(149;0.0467)										0.06	-8.235246	12.013893	6	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9623218	9623218	16860	8	A	T	T	T	26	2	TNKS	3	3
MATN2	4147	broad.mit.edu	37	8	99015917	99015917	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99015917G>A	uc003yic.2	+	c.1233G>A	c.(1231-1233)CCG>CCA	p.P411P	MATN2_uc003yib.1_Silent_p.P411P|MATN2_uc010mbh.1_Silent_p.P370P|MATN2_uc003yid.2_Silent_p.P411P|MATN2_uc003yie.1_Silent_p.P411P|MATN2_uc010mbi.1_Silent_p.P244P	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	411	EGF-like 5.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)											0.061538	-3.853751	9.185345	4	61	KEEP	---	---	---	---	capture		Silent	SNP	99015917	99015917	9718	8	G	A	A	A	496	39	MATN2	1	1
COL15A1	1306	broad.mit.edu	37	9	101797630	101797630	+	Splice_Site_SNP	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:101797630A>T	uc004azb.1	+	c.2221_splice	c.e19-2	p.D741_splice		NM_001855	NP_001846			alpha 1 type XV collagen precursor						angiogenesis|cell adhesion|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding|extracellular matrix structural constituent			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)												0.088	4.624428	26.084903	11	114	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	101797630	101797630	3810	9	A	T	T	T	91	7	COL15A1	5	3
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898635	112898635	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:112898635G>T	uc004bei.2	+	c.1507G>T	c.(1507-1509)GAT>TAT	p.D503Y	PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.D271Y|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.D271Y|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.D81Y|AKAP2_uc011lwi.1_Missense_Mutation_p.D129Y|AKAP2_uc004bem.2_Missense_Mutation_p.D129Y|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.D89Y|AKAP2_uc011lwj.1_Missense_Mutation_p.D40Y|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.D40Y	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	40							enzyme binding			ovary(3)|central_nervous_system(2)	5														0.038136	-38.421548	16.020303	9	227	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112898635	112898635	11826	9	G	T	T	T	585	45	PALM2-AKAP2	2	2
TLR4	7099	broad.mit.edu	37	9	120475650	120475650	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120475650G>T	uc004bjz.2	+	c.1244G>T	c.(1243-1245)AGT>ATT	p.S415I	TLR4_uc004bka.2_Missense_Mutation_p.S375I|TLR4_uc004bkb.2_Missense_Mutation_p.S215I	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	415	LRR 12.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|defense response to Gram-negative bacterium|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of inflammatory response|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			ovary(4)	4										157				0.073446	-3.461632	29.637173	13	164	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120475650	120475650	16483	9	G	T	T	T	468	36	TLR4	2	2
TTC16	158248	broad.mit.edu	37	9	130479638	130479638	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:130479638G>T	uc004brq.1	+	c.217G>T	c.(217-219)GAG>TAG	p.E73*	PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_5'Flank|PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Nonsense_Mutation_p.E73*|TTC16_uc004brr.1_Nonsense_Mutation_p.E66*|TTC16_uc010mxn.1_5'Flank	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	73	TPR 1.						binding				0														0.078947	-0.505941	6.376215	3	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	130479638	130479638	17237	9	G	T	T	T	533	41	TTC16	5	2
FCN1	2219	broad.mit.edu	37	9	137803106	137803106	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:137803106G>T	uc004cfi.2	-	c.606C>A	c.(604-606)AGC>AGA	p.S202R		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	202	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)										0.130081	46.847739	79.504037	32	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137803106	137803106	6028	9	G	T	T	T	490	38	FCN1	1	1
TOPORS	10210	broad.mit.edu	37	9	32543811	32543811	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:32543811T>A	uc003zrb.2	-	c.712A>T	c.(712-714)AGG>TGG	p.R238W	TOPORS_uc003zrc.2_Missense_Mutation_p.R171W	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	238	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent|visual perception	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)										0.031111	-40.670534	13.51073	7	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32543811	32543811	16912	9	T	A	A	A	700	54	TOPORS	3	3
UNC13B	10497	broad.mit.edu	37	9	35403960	35403960	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:35403960G>T	uc003zwr.2	+	c.4763G>T	c.(4762-4764)AGC>ATC	p.S1588I	UNC13B_uc003zwq.2_Missense_Mutation_p.S1569I|ATP8B5P_uc010mkn.1_5'Flank|ATP8B5P_uc010mko.2_5'Flank|ATP8B5P_uc010mkp.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1569					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)	4	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)											0.059524	-7.294651	9.763965	5	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35403960	35403960	17543	9	G	T	T	T	442	34	UNC13B	2	2
ROR2	4920	broad.mit.edu	37	9	94486066	94486066	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:94486066C>A	uc004arj.1	-	c.2710G>T	c.(2710-2712)GGG>TGG	p.G904W	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	904	Cytoplasmic (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(6)|central_nervous_system(5)|ovary(3)|large_intestine(2)	16										461				0.075342	-3.593973	23.415596	11	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94486066	94486066	14006	9	C	A	A	A	273	21	ROR2	2	2
OGN	4969	broad.mit.edu	37	9	95163438	95163438	+	Silent	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95163438C>T	uc011ltx.1	-	c.258G>A	c.(256-258)GAG>GAA	p.E86E	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asa.2_Silent_p.E68E|OGN_uc004asb.2_Silent_p.E68E	NM_033014	NP_148935	P20774	MIME_HUMAN	osteoglycin preproprotein	68						extracellular space|proteinaceous extracellular matrix	growth factor activity				0														0.045685	-23.199623	20.221794	9	188	KEEP	---	---	---	---	capture		Silent	SNP	95163438	95163438	11251	9	C	T	T	T	415	32	OGN	2	2
ECM2	1842	broad.mit.edu	37	9	95272247	95272247	+	Missense_Mutation	SNP	A	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:95272247A>G	uc004ash.2	-	c.1240T>C	c.(1240-1242)TCT>CCT	p.S414P	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.S392P|ECM2_uc011lty.1_Missense_Mutation_p.S414P|ECM2_uc004asg.2_Missense_Mutation_p.S392P	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	414	LRR 2.				cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2														0.034884	-12.849476	7.381237	3	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	95272247	95272247	5085	9	A	G	G	G	156	12	ECM2	4	4
C9orf102	375748	broad.mit.edu	37	9	98678023	98678023	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:98678023A>T	uc004avt.3	+	c.895A>T	c.(895-897)ATG>TTG	p.M299L	C9orf102_uc010mrx.1_Non-coding_Transcript|C9orf102_uc011lum.1_Missense_Mutation_p.M1L|C9orf102_uc010mry.1_Missense_Mutation_p.M1L|C9orf102_uc010mrz.2_Missense_Mutation_p.M110L	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	299	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)												0.10274	11.419706	34.379845	15	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98678023	98678023	2558	9	A	T	T	T	208	16	C9orf102	3	3
TRMT2B	79979	broad.mit.edu	37	X	100291990	100291990	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100291990C>A	uc004egq.2	-	c.511G>T	c.(511-513)GTG>TTG	p.V171L	TRMT2B_uc004egp.2_Non-coding_Transcript|TRMT2B_uc004egr.2_Missense_Mutation_p.V171L|TRMT2B_uc004egs.2_Missense_Mutation_p.V171L|TRMT2B_uc004egt.2_Missense_Mutation_p.V171L|TRMT2B_uc004egu.2_Missense_Mutation_p.V52L|TRMT2B_uc004egv.2_Missense_Mutation_p.V126L	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN	TRM2 tRNA methyltransferase 2 homolog B	171							tRNA (uracil-5-)-methyltransferase activity			ovary(1)	1														0.03876	-18.843076	10.804133	5	124	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100291990	100291990	17116	23	C	A	A	A	221	17	TRMT2B	2	2
GLA	2717	broad.mit.edu	37	X	100662735	100662735	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:100662735T>A	uc004ehl.1	-	c.157A>T	c.(157-159)AAC>TAC	p.N53Y	HNRNPH2_uc004ehm.2_5'Flank|HNRNPH2_uc004ehn.2_5'Flank|GLA_uc011mrj.1_Missense_Mutation_p.N53Y	NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	53					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	alpha-galactosidase activity|cation binding|protein homodimerization activity|receptor binding				0					Agalsidase beta(DB00103)	Colon(193;776 2816 31189 44474)								0.053691	-15.32213	15.992075	8	141	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100662735	100662735	6694	23	T	A	A	A	819	63	GLA	3	3
NXF5	55998	broad.mit.edu	37	X	101096045	101096045	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101096045C>A	uc011mrk.1	-	c.423G>T	c.(421-423)CTG>CTT	p.L141L	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	141					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1														0.038627	-37.535308	16.068389	9	224	KEEP	---	---	---	---	capture		Silent	SNP	101096045	101096045	11191	23	C	A	A	A	366	29	NXF5	2	2
NXF5	55998	broad.mit.edu	37	X	101096677	101096677	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101096677C>T	uc011mrk.1	-	c.209G>A	c.(208-210)AGT>AAT	p.S70N	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	70	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1														0.028708	-40.038375	11.057346	6	203	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101096677	101096677	11191	23	C	T	T	T	260	20	NXF5	2	2
GPRASP1	9737	broad.mit.edu	37	X	101911404	101911404	+	Nonsense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:101911404G>T	uc004ejj.3	+	c.2563G>T	c.(2563-2565)GAG>TAG	p.E855*	GPRASP1_uc004eji.3_Nonsense_Mutation_p.E855*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.E855*	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	855	Glu-rich.					cytoplasm	protein binding			ovary(1)|lung(1)	2														0.05298	-16.026244	15.841493	8	143	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	101911404	101911404	6998	23	G	T	T	T	533	41	GPRASP1	5	2
NXF3	56000	broad.mit.edu	37	X	102338133	102338133	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:102338133C>A	uc004eju.2	-	c.609G>T	c.(607-609)GTG>GTT	p.V203V	NXF3_uc010noi.1_Silent_p.V53V|NXF3_uc011mrw.1_Silent_p.V203V|NXF3_uc011mrx.1_Silent_p.V114V	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	203						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3														0.075269	-4.111352	30.326892	14	172	KEEP	---	---	---	---	capture		Silent	SNP	102338133	102338133	11190	23	C	A	A	A	262	21	NXF3	2	2
TBC1D8B	54885	broad.mit.edu	37	X	106117037	106117037	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:106117037T>A	uc004emo.2	+	c.3205T>A	c.(3205-3207)TTT>ATT	p.F1069I	MORC4_uc004emp.3_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1069						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)	3														0.033175	-36.667259	13.508747	7	204	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	106117037	106117037	16152	23	T	A	A	A	728	56	TBC1D8B	3	3
TEX13B	56156	broad.mit.edu	37	X	107224961	107224961	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107224961C>T	uc004enn.1	-	c.397G>A	c.(397-399)GAG>AAG	p.E133K		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	testis expressed 13B	133										ovary(1)	1														0.035714	-23.5497	9.228664	5	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107224961	107224961	16304	23	C	T	T	T	403	31	TEX13B	1	1
ATG4A	115201	broad.mit.edu	37	X	107377577	107377577	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107377577G>T	uc004enr.2	+	c.403G>T	c.(403-405)GGT>TGT	p.G135C	ATG4A_uc004ent.2_Missense_Mutation_p.G135C|ATG4A_uc004ens.2_Missense_Mutation_p.G51C|ATG4A_uc011msl.1_Missense_Mutation_p.G51C|ATG4A_uc010npi.2_Intron|ATG4A_uc004enu.2_Missense_Mutation_p.G51C	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	autophagy-related cysteine endopeptidase 2	135					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			pancreas(1)	1														0.08	0.116973	18.116122	8	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107377577	107377577	1115	23	G	T	T	T	559	43	ATG4A	2	2
ALG13	79868	broad.mit.edu	37	X	110925492	110925492	+	Nonsense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110925492C>T	uc004epi.1	+	c.214C>T	c.(214-216)CAG>TAG	p.Q72*	ALG13_uc011msw.1_Intron|ALG13_uc011msx.1_5'UTR|ALG13_uc011msy.1_Nonsense_Mutation_p.Q72*|ALG13_uc011msz.1_Intron|ALG13_uc011mta.1_5'UTR|ALG13_uc011mtb.1_5'UTR	NM_018466	NP_060936	Q9NP73	ALG13_HUMAN	asparagine-linked glycosylation 13 homolog	72					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1														0.036437	-41.253336	16.337448	9	238	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	110925492	110925492	518	23	C	T	T	T	377	29	ALG13	5	2
HTR2C	3358	broad.mit.edu	37	X	114141513	114141513	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:114141513C>A	uc004epu.1	+	c.912C>A	c.(910-912)AAC>AAA	p.N304K	HTR2C_uc010nqc.1_Missense_Mutation_p.N304K|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	304	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|serotonin receptor signaling pathway|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)									0.083032	7.316263	56.269137	23	254	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114141513	114141513	7743	23	C	A	A	A	220	17	HTR2C	2	2
HTR2C	3358	broad.mit.edu	37	X	114141543	114141543	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:114141543G>A	uc004epu.1	+	c.942G>A	c.(940-942)GGG>GGA	p.G314G	HTR2C_uc010nqc.1_Silent_p.G314G|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	314	Helical; Name=6; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|serotonin receptor signaling pathway|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)									0.076433	-3.879276	53.760834	24	290	KEEP	---	---	---	---	capture		Silent	SNP	114141543	114141543	7743	23	G	A	A	A	522	41	HTR2C	2	2
KLHL13	90293	broad.mit.edu	37	X	117079444	117079444	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:117079444G>T	uc011mtp.1	-	c.199C>A	c.(199-201)CCT>ACT	p.P67T	KLHL13_uc004eqk.2_Missense_Mutation_p.P14T|KLHL13_uc004eql.2_Missense_Mutation_p.P65T|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Missense_Mutation_p.P59T|KLHL13_uc004eqm.2_Missense_Mutation_p.P14T|KLHL13_uc011mtq.1_Missense_Mutation_p.P49T	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	65					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)	1														0.052632	-13.144314	14.940552	7	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	117079444	117079444	8681	23	G	T	T	T	572	44	KLHL13	2	2
KIAA1210	57481	broad.mit.edu	37	X	118284538	118284538	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:118284538C>A	uc004era.3	-	c.5G>T	c.(4-6)AGG>ATG	p.R2M		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	2										ovary(4)|skin(1)	5														0.059701	-7.160796	6.447686	4	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	118284538	118284538	8522	23	C	A	A	A	312	24	KIAA1210	2	2
XIAP	331	broad.mit.edu	37	X	123019764	123019764	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:123019764G>T	uc010nqu.2	+	c.252G>T	c.(250-252)AGG>AGT	p.R84S	XIAP_uc004etx.2_Missense_Mutation_p.R84S|XIAP_uc010nqv.2_Intron	NM_001167	NP_001158	P98170	XIAP_HUMAN	baculoviral IAP repeat-containing protein 4	84	BIR 1.				anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			ovary(1)|lung(1)	2										93				0.042105	-29.664389	13.156602	8	182	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123019764	123019764	18009	23	G	T	T	T	529	41	XIAP	2	2
DCAF12L2	340578	broad.mit.edu	37	X	125298618	125298618	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125298618C>A	uc004euk.1	-	c.1290G>T	c.(1288-1290)GCG>GCT	p.A430A		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	430										lung(2)|large_intestine(1)|ovary(1)|pancreas(1)	5														0.09633	13.835083	49.08118	21	197	KEEP	---	---	---	---	capture		Silent	SNP	125298618	125298618	4436	23	C	A	A	A	340	27	DCAF12L2	1	1
DCAF12L2	340578	broad.mit.edu	37	X	125298934	125298934	+	Missense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125298934G>C	uc004euk.1	-	c.974C>G	c.(973-975)TCT>TGT	p.S325C		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	325										lung(2)|large_intestine(1)|ovary(1)|pancreas(1)	5														0.056962	-11.695388	20.810826	9	149	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125298934	125298934	4436	23	G	C	C	C	429	33	DCAF12L2	3	3
XPNPEP2	7512	broad.mit.edu	37	X	128889338	128889338	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:128889338C>A	uc004eut.1	+	c.1286C>A	c.(1285-1287)GCC>GAC	p.A429D		NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	429					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0														0.047619	-19.085068	12.932918	7	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128889338	128889338	18026	23	C	A	A	A	338	26	XPNPEP2	2	2
XPNPEP2	7512	broad.mit.edu	37	X	128890485	128890485	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:128890485C>A	uc004eut.1	+	c.1321C>A	c.(1321-1323)CTG>ATG	p.L441M		NM_003399	NP_003390	O43895	XPP2_HUMAN	X-prolyl aminopeptidase 2, membrane-bound	441					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0														0.062992	-7.611811	17.655241	8	119	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128890485	128890485	18026	23	C	A	A	A	363	28	XPNPEP2	2	2
ZDHHC9	51114	broad.mit.edu	37	X	128975899	128975899	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:128975899T>A	uc004euv.2	-	c.23A>T	c.(22-24)AAG>ATG	p.K8M	ZDHHC9_uc004euw.2_Missense_Mutation_p.K8M|ZDHHC9_uc004eux.1_Missense_Mutation_p.K8M|ZDHHC9_uc004euy.1_Intron	NM_001008222	NP_001008223	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC domain containing 9	8	Cytoplasmic (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)	1														0.043668	-31.252719	19.841716	10	219	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128975899	128975899	18210	23	T	A	A	A	728	56	ZDHHC9	3	3
BCORL1	63035	broad.mit.edu	37	X	129147341	129147341	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129147341C>A	uc004evb.1	+	c.593C>A	c.(592-594)CCT>CAT	p.P198H	BCORL1_uc010nrd.1_Missense_Mutation_p.P100H	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	198	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7														0.042017	-16.710239	10.086481	5	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129147341	129147341	1408	23	C	A	A	A	312	24	BCORL1	2	2
IGSF1	3547	broad.mit.edu	37	X	130408104	130408104	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:130408104C>A	uc004ewd.2	-	c.3828G>T	c.(3826-3828)GGG>GGT	p.G1276G	IGSF1_uc004ewe.3_Silent_p.G1270G|IGSF1_uc004ewf.2_Silent_p.G1256G	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1276	Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.050251	-29.126424	13.662554	10	189	KEEP	---	---	---	---	capture		Silent	SNP	130408104	130408104	7897	23	C	A	A	A	275	22	IGSF1	2	2
USP26	83844	broad.mit.edu	37	X	132159958	132159958	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:132159958C>A	uc010nrm.1	-	c.2291G>T	c.(2290-2292)GGC>GTC	p.G764V	USP26_uc011mvf.1_Missense_Mutation_p.G764V	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	764					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			central_nervous_system(3)|kidney(1)|liver(1)	5	Acute lymphoblastic leukemia(192;0.000127)					NSCLC(104;342 1621 36940 47097 52632)								0.035398	-38.899788	14.122774	8	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132159958	132159958	17620	23	C	A	A	A	338	26	USP26	2	2
GPC4	2239	broad.mit.edu	37	X	132438835	132438835	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:132438835G>T	uc004exc.1	-	c.1210C>A	c.(1210-1212)CCG>ACG	p.P404T	GPC4_uc011mvg.1_Missense_Mutation_p.P334T	NM_001448	NP_001439	O75487	GPC4_HUMAN	glypican 4 precursor	404					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	Acute lymphoblastic leukemia(192;0.000127)													0.064516	-17.814322	31.094623	16	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132438835	132438835	6874	23	G	T	T	T	533	41	GPC4	2	2
GPR112	139378	broad.mit.edu	37	X	135482265	135482265	+	Silent	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:135482265A>T	uc004ezu.1	+	c.8565A>T	c.(8563-8565)CTA>CTT	p.L2855L	GPR112_uc010nsb.1_Silent_p.L2650L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2855	Helical; Name=4; (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				0.062857	-10.714694	24.116661	11	164	KEEP	---	---	---	---	capture		Silent	SNP	135482265	135482265	6903	23	A	T	T	T	184	15	GPR112	3	3
MAGEC1	9947	broad.mit.edu	37	X	140993218	140993218	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:140993218G>T	uc004fbt.2	+	c.28G>T	c.(28-30)GGG>TGG	p.G10W	MAGEC1_uc010nsl.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	10							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													0.035897	-31.055329	14.548956	7	188	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140993218	140993218	9561	23	G	T	T	T	611	47	MAGEC1	2	2
SLITRK4	139065	broad.mit.edu	37	X	142717341	142717341	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:142717341C>A	uc004fbx.2	-	c.1584G>T	c.(1582-1584)TTG>TTT	p.L528F	SLITRK4_uc004fby.2_Missense_Mutation_p.L528F	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	528	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)													0.038596	-44.409039	21.144532	11	274	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	142717341	142717341	15243	23	C	A	A	A	272	21	SLITRK4	2	2
SLITRK2	84631	broad.mit.edu	37	X	144904119	144904119	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144904119C>A	uc004fcd.2	+	c.176C>A	c.(175-177)CCC>CAC	p.P59H	SLITRK2_uc010nsp.2_Missense_Mutation_p.P59H|SLITRK2_uc010nso.2_Missense_Mutation_p.P59H|SLITRK2_uc011mwq.1_Missense_Mutation_p.P59H|SLITRK2_uc011mwr.1_Missense_Mutation_p.P59H|SLITRK2_uc011mws.1_Missense_Mutation_p.P59H|SLITRK2_uc004fcg.2_Missense_Mutation_p.P59H|SLITRK2_uc011mwt.1_Missense_Mutation_p.P59H	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	59	Extracellular (Potential).					integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.07767	-1.007145	17.716774	8	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144904119	144904119	15241	23	C	A	A	A	286	22	SLITRK2	2	2
IDS	3423	broad.mit.edu	37	X	148568624	148568624	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:148568624C>A	uc011mxe.1	-	c.1012G>T	c.(1012-1014)GCT>TCT	p.A338S	IDS_uc011mxd.1_Intron|IDS_uc011mxf.1_Missense_Mutation_p.A248S|IDS_uc011mxg.1_Missense_Mutation_p.A127S|IDS_uc010nsu.1_5'UTR|IDS_uc004fcw.3_Missense_Mutation_p.A127S	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	338						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)													0.057143	-6.442097	7.958653	4	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	148568624	148568624	7803	23	C	A	A	A	338	26	IDS	2	2
MAGEA8	4107	broad.mit.edu	37	X	149013858	149013858	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:149013858G>A	uc004fdw.1	+	c.812G>A	c.(811-813)CGC>CAC	p.R271H		NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	271	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)													0.043825	-36.578624	19.287787	11	240	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149013858	149013858	9550	23	G	A	A	A	494	38	MAGEA8	1	1
MAGEA1	4100	broad.mit.edu	37	X	152482377	152482378	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152482377_152482378CC>AA	uc004fhf.2	-	c.633_634GG>TT	c.(631-636)GAGGAG>GATTAG	p.211_212EE>D*		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	211_212	MAGE.					cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.035714	-27.598098	11.731321	6	162	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	152482377	152482378	9540	23	CC	AA	AA	AA	390	30	MAGEA1	5	2
ATP2B3	492	broad.mit.edu	37	X	152807850	152807850	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152807850C>G	uc004fht.1	+	c.734C>G	c.(733-735)ACG>AGG	p.T245R	ATP2B3_uc004fhs.1_Missense_Mutation_p.T245R	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	245	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.09375	5.906634	16.517357	6	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152807850	152807850	1160	23	C	G	G	G	247	19	ATP2B3	3	3
L1CAM	3897	broad.mit.edu	37	X	153141232	153141232	+	Silent	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153141232G>A	uc004fjb.2	-	c.60C>T	c.(58-60)ATC>ATT	p.I20I	L1CAM_uc004fjc.2_Silent_p.I20I|L1CAM_uc010nuo.2_Silent_p.I20I|L1CAM_uc004fje.1_Silent_p.I20I	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	20	Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.066667	-2.010027	6.747157	3	42	KEEP	---	---	---	---	capture		Silent	SNP	153141232	153141232	8911	23	G	A	A	A	525	41	L1CAM	2	2
OPN1MW	2652	broad.mit.edu	37	X	153496193	153496193	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153496193G>T	uc004fkd.2	+	c.921G>T	c.(919-921)CCG>CCT	p.P307P		NM_000513	NP_000504	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive	307	Helical; Name=7; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.129032	17.59491	30.008155	12	81	KEEP	---	---	---	---	capture		Silent	SNP	153496193	153496193	11284	23	G	T	T	T	496	39	OPN1MW	1	1
TKTL1	8277	broad.mit.edu	37	X	153551614	153551614	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:153551614G>T	uc004fkg.2	+	c.1248G>T	c.(1246-1248)AAG>AAT	p.K416N	TKTL1_uc011mzl.1_Missense_Mutation_p.K410N|TKTL1_uc011mzm.1_Missense_Mutation_p.K212N|TKTL1_uc004fkh.2_Missense_Mutation_p.K360N	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	416					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)													0.060914	-12.529812	27.105502	12	185	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153551614	153551614	16464	23	G	T	T	T	464	36	TKTL1	2	2
PHKA2	5256	broad.mit.edu	37	X	18972504	18972504	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:18972504G>T	uc004cyv.3	-	c.105C>A	c.(103-105)GCC>GCA	p.A35A	PHKA2_uc010nfh.1_Non-coding_Transcript|PHKA2_uc010nfi.1_5'UTR	NM_000292	NP_000283	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	35					glucose metabolic process|glycogen catabolic process|protein modification process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(1)|central_nervous_system(1)	2	Hepatocellular(33;0.183)													0.076923	-0.747261	15.927502	7	84	KEEP	---	---	---	---	capture		Silent	SNP	18972504	18972504	12268	23	G	T	T	T	600	47	PHKA2	2	2
PTCHD1	139411	broad.mit.edu	37	X	23412216	23412216	+	Missense_Mutation	SNP	A	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:23412216A>T	uc004dal.3	+	c.2581A>T	c.(2581-2583)AAT>TAT	p.N861Y		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	861					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)	5														0.050761	-23.219278	18.913994	10	187	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23412216	23412216	13186	23	A	T	T	T	13	1	PTCHD1	3	3
IL1RAPL1	11141	broad.mit.edu	37	X	29938086	29938086	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:29938086G>T	uc004dby.2	+	c.932G>T	c.(931-933)GGG>GTG	p.G311V		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	311	Extracellular (Potential).|Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5														0.041825	-37.507448	21.825588	11	252	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29938086	29938086	7962	23	G	T	T	T	559	43	IL1RAPL1	2	2
DMD	1756	broad.mit.edu	37	X	32382758	32382758	+	Missense_Mutation	SNP	C	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:32382758C>T	uc004dda.1	-	c.5095G>A	c.(5095-5097)GAC>AAC	p.D1699N	DMD_uc004dcw.2_Missense_Mutation_p.D355N|DMD_uc004dcx.2_Missense_Mutation_p.D358N|DMD_uc004dcz.2_Missense_Mutation_p.D1576N|DMD_uc004dcy.1_Missense_Mutation_p.D1695N|DMD_uc004ddb.1_Missense_Mutation_p.D1691N|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1699	Spectrin 12.|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)												0.045977	-36.845146	20.661732	12	249	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32382758	32382758	4760	23	C	T	T	T	377	29	DMD	2	2
MXRA5	25878	broad.mit.edu	37	X	3240239	3240239	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:3240239G>A	uc004crg.3	-	c.3487C>T	c.(3487-3489)CGC>TGC	p.R1163C		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1163						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(23;0.00031)|Lung NSC(23;0.000946)												0.074419	-3.153894	36.814269	16	199	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3240239	3240239	10397	23	G	A	A	A	507	39	MXRA5	1	1
FAM47A	158724	broad.mit.edu	37	X	34149300	34149300	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34149300G>T	uc004ddg.2	-	c.1096C>A	c.(1096-1098)CCT>ACT	p.P366T		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	366										ovary(4)|central_nervous_system(1)	5														0.078947	0.000409	6.875826	3	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34149300	34149300	5790	23	G	T	T	T	546	42	FAM47A	2	2
FAM47C	442444	broad.mit.edu	37	X	37028015	37028015	+	Missense_Mutation	SNP	G	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37028015G>A	uc004ddl.1	+	c.1532G>A	c.(1531-1533)CGC>CAC	p.R511H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	511										ovary(3)	3														0.064286	-9.432798	18.206138	9	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37028015	37028015	5792	23	G	A	A	A	494	38	FAM47C	1	1
SYTL5	94122	broad.mit.edu	37	X	37965979	37965979	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:37965979G>T	uc004ddx.2	+	c.1355G>T	c.(1354-1356)TGC>TTC	p.C452F	SYTL5_uc004ddu.2_Missense_Mutation_p.C430F|SYTL5_uc004ddv.2_Missense_Mutation_p.C430F	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 2	430	C2 1.				intracellular protein transport	membrane	Rab GTPase binding|zinc ion binding				0														0.04902	-11.397031	10.627407	5	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37965979	37965979	16007	23	G	T	T	T	598	46	SYTL5	2	2
RPGR	6103	broad.mit.edu	37	X	38132700	38132700	+	Nonsense_Mutation	SNP	G	C	C			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:38132700G>C	uc004deb.2	-	c.2180C>G	c.(2179-2181)TCA>TGA	p.S727*	RPGR_uc004dea.2_Non-coding_Transcript|RPGR_uc004dec.2_Non-coding_Transcript	NM_000328	NP_000319	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform A	733	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1														0.064516	-0.952797	11.268203	4	58	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	38132700	38132700	14027	23	G	C	C	C	585	45	RPGR	5	3
RPGR	6103	broad.mit.edu	37	X	38169932	38169932	+	Silent	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:38169932C>A	uc004ded.1	-	c.714G>T	c.(712-714)GTG>GTT	p.V238V	RPGR_uc004deb.2_Silent_p.V238V|RPGR_uc004dea.2_Non-coding_Transcript|RPGR_uc004dec.2_Non-coding_Transcript	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator isoform C	238	RCC1 4.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1														0.101266	7.249474	19.773147	8	71	KEEP	---	---	---	---	capture		Silent	SNP	38169932	38169932	14027	23	C	A	A	A	210	17	RPGR	2	2
BCOR	54880	broad.mit.edu	37	X	39931720	39931720	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:39931720G>T	uc004den.3	-	c.2879C>A	c.(2878-2880)TCT>TAT	p.S960Y	BCOR_uc004dep.3_Missense_Mutation_p.S960Y|BCOR_uc004deo.3_Missense_Mutation_p.S960Y|BCOR_uc004dem.3_Missense_Mutation_p.S960Y|BCOR_uc004deq.3_Missense_Mutation_p.S960Y	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	960					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														0.103448	4.805451	13.888279	6	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39931720	39931720	1407	23	G	T	T	T	429	33	BCOR	2	2
DUSP21	63904	broad.mit.edu	37	X	44703492	44703492	+	Missense_Mutation	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:44703492C>G	uc004dgd.2	+	c.114C>G	c.(112-114)AAC>AAG	p.N38K		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	38	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)	2														0.067308	-4.124267	16.012076	7	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44703492	44703492	5005	23	C	G	G	G	246	19	DUSP21	3	3
CLCN5	1184	broad.mit.edu	37	X	49845313	49845313	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:49845313C>A	uc004dor.1	+	c.666C>A	c.(664-666)TTC>TTA	p.F222L	CLCN5_uc004doq.1_Missense_Mutation_p.F222L|CLCN5_uc004dos.1_Missense_Mutation_p.F152L|CLCN5_uc004dot.1_Missense_Mutation_p.F152L	NM_001127899	NP_001121371	P51795	CLCN5_HUMAN	chloride channel 5 isoform a	152	Helical; (By similarity).				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			ovary(2)|lung(1)|central_nervous_system(1)	4	Ovarian(276;0.236)													0.032258	-28.233658	8.808206	5	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49845313	49845313	3602	23	C	A	A	A	389	30	CLCN5	2	2
ZCCHC5	203430	broad.mit.edu	37	X	77912683	77912683	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77912683G>T	uc004edc.1	-	c.1235C>A	c.(1234-1236)CCC>CAC	p.P412H		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	412							nucleic acid binding|zinc ion binding			ovary(1)	1														0.082803	0.711021	28.451444	13	144	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77912683	77912683	18179	23	G	T	T	T	559	43	ZCCHC5	2	2
LPAR4	2846	broad.mit.edu	37	X	78010954	78010954	+	Silent	SNP	C	G	G			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78010954C>G	uc010nme.2	+	c.588C>G	c.(586-588)GTC>GTG	p.V196V		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	196	Extracellular (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3														0.047619	-16.745954	19.853773	8	160	KEEP	---	---	---	---	capture		Silent	SNP	78010954	78010954	9280	23	C	G	G	G	405	32	LPAR4	3	3
GPR174	84636	broad.mit.edu	37	X	78426662	78426662	+	Missense_Mutation	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:78426662G>T	uc004edg.1	+	c.158G>T	c.(157-159)CGA>CTA	p.R53L		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	putative purinergic receptor FKSG79	53	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)|central_nervous_system(1)	2														0.090909	1.965227	9.389507	4	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78426662	78426662	6947	23	G	T	T	T	481	37	GPR174	1	1
CYLC1	1538	broad.mit.edu	37	X	83128563	83128563	+	Missense_Mutation	SNP	T	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:83128563T>A	uc004eei.1	+	c.847T>A	c.(847-849)TAT>AAT	p.Y283N	CYLC1_uc004eeh.1_Missense_Mutation_p.Y282N	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	283	1.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5														0.092105	3.369942	16.099549	7	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	83128563	83128563	4306	23	T	A	A	A	741	57	CYLC1	3	3
RPS6KA6	27330	broad.mit.edu	37	X	83372409	83372409	+	Silent	SNP	G	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:83372409G>T	uc004eej.1	-	c.843C>A	c.(841-843)ACC>ACA	p.T281T	RPS6KA6_uc011mqt.1_Silent_p.T281T|RPS6KA6_uc011mqu.1_Silent_p.T178T|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	281	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|protein phosphorylation|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)	5										287				0.125	7.144483	12.641892	5	35	KEEP	---	---	---	---	capture		Silent	SNP	83372409	83372409	14135	23	G	T	T	T	600	47	RPS6KA6	2	2
SATL1	340562	broad.mit.edu	37	X	84363147	84363147	+	Missense_Mutation	SNP	C	A	A			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:84363147C>A	uc011mqx.1	-	c.828G>T	c.(826-828)ATG>ATT	p.M276I	SATL1_uc004een.2_Missense_Mutation_p.M276I	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	89	Gln-rich.						N-acetyltransferase activity			breast(2)	2														0.080169	-0.74742	41.848937	19	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84363147	84363147	14336	23	C	A	A	A	377	29	SATL1	2	2
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	-	-			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140052285_140052285delT	uc003lgt.2	-	c.349_349delA	c.(349-351)ACGfs	p.T117fs		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	dead end homolog 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.33			5	10		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	140052285	140052285	4849	5	T	-	-	-	767	59	DND1	5	5
HOXA2	3199	broad.mit.edu	37	7	27141898	27141899	+	Frame_Shift_Ins	INS	-	T	T			TCGA-38-4626-01	TCGA-38-4626-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:27141898_27141899insT	uc003syh.2	-	c.221_222insA	c.(220-222)AAGfs	p.K74fs		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	74						nucleus	sequence-specific DNA binding transcription factor activity|transcription regulator activity			ovary(1)	1														0.36			5	9		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	27141898	27141899	7584	7	-	T	T	T	363	28	HOXA2	5	5
