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
SMC3	9126	broad.mit.edu	37	10	112361781	112361781	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:112361781A>C	uc001kze.2	+	c.2950A>C	c.(2950-2952)AAA>CAA	p.K984Q		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	984	Potential.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)	2		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)										0.102941	7.973581	18.652129	7	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	112361781	112361781	15282	10	A	C	C	C	65	5	SMC3	4	4
TECTB	6975	broad.mit.edu	37	10	114044408	114044408	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:114044408C>A	uc001kzr.1	+	c.192C>A	c.(190-192)CAC>CAA	p.H64Q		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta precursor	64	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)										0.117647	7.72128	15.04392	6	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114044408	114044408	16275	10	C	A	A	A	246	19	TECTB	1	1
FGFR2	2263	broad.mit.edu	37	10	123243279	123243279	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:123243279G>T	uc010qtj.1	-	c.2237C>A	c.(2236-2238)TCC>TAC	p.S746Y	FGFR2_uc010qtg.1_Missense_Mutation_p.S633Y|FGFR2_uc010qth.1_Missense_Mutation_p.S630Y|FGFR2_uc010qti.1_Missense_Mutation_p.S656Y|FGFR2_uc010qtk.1_Missense_Mutation_p.S745Y|FGFR2_uc010qtl.1_Missense_Mutation_p.S629Y|FGFR2_uc010qtm.1_Missense_Mutation_p.S628Y|FGFR2_uc001lfl.3_Missense_Mutation_p.S746Y|FGFR2_uc001lfm.2_Missense_Mutation_p.S657Y|FGFR2_uc001lfg.3_Missense_Mutation_p.S353Y|FGFR2_uc001lfk.1_Non-coding_Transcript	NM_022970	NP_075259	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 2	745	Cytoplasmic (Potential).|Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of gene-specific transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of mesenchymal cell proliferation|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|protein phosphorylation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(39)|skin(28)|lung(7)|ovary(4)|cervix(2)|stomach(2)|breast(2)|soft_tissue(1)|central_nervous_system(1)	86		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)			5		350				0.09375	1.30281	6.609971	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123243279	123243279	6103	10	G	T	T	T	533	41	FGFR2	2	2
ADAM12	8038	broad.mit.edu	37	10	127760135	127760135	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:127760135G>C	uc001ljk.2	-	c.1243C>G	c.(1243-1245)CTG>GTG	p.L415V	ADAM12_uc010qul.1_Missense_Mutation_p.L366V|ADAM12_uc001ljm.2_Missense_Mutation_p.L415V|ADAM12_uc001ljn.2_Missense_Mutation_p.L412V|ADAM12_uc001ljl.3_Missense_Mutation_p.L412V	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	415	Extracellular (Potential).|Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			breast(4)|ovary(2)|central_nervous_system(2)	8		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)						1070				0.066298	-11.845715	23.478769	12	169	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	127760135	127760135	237	10	G	C	C	C	451	35	ADAM12	3	3
SLC39A12	221074	broad.mit.edu	37	10	18292099	18292099	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:18292099G>T	uc001ipo.2	+	c.1760_splice	c.e12-1	p.G587_splice	SLC39A12_uc001ipn.2_Splice_Site_SNP_p.G550_splice|SLC39A12_uc001ipp.2_Splice_Site_SNP_p.G586_splice|SLC39A12_uc010qck.1_Splice_Site_SNP_p.G453_splice	NM_001145195	NP_001138667			solute carrier family 39 (zinc transporter),						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2														0.066667	-2.312139	6.44747	3	42	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	18292099	18292099	15112	10	G	T	T	T	455	35	SLC39A12	5	2
A1CF	29974	broad.mit.edu	37	10	52595851	52595851	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:52595851C>A	uc010qho.1	-	c.611G>T	c.(610-612)AGG>ATG	p.R204M	A1CF_uc010qhn.1_Missense_Mutation_p.R204M|A1CF_uc001jji.2_Missense_Mutation_p.R196M|A1CF_uc001jjj.2_Missense_Mutation_p.R196M|A1CF_uc001jjh.2_Missense_Mutation_p.R204M|A1CF_uc009xov.2_Missense_Mutation_p.R196M	NM_138933	NP_620311	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 3	196	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1														0.096774	6.429698	26.617032	12	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52595851	52595851	2	10	C	A	A	A	312	24	A1CF	2	2
SGPL1	8879	broad.mit.edu	37	10	72633294	72633294	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:72633294T>A	uc001jrm.2	+	c.1246T>A	c.(1246-1248)TAT>AAT	p.Y416N	SGPL1_uc009xqk.2_Intron	NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	416	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)								0.044643	-15.107365	9.722996	5	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72633294	72633294	14709	10	T	A	A	A	689	53	SGPL1	3	3
CDH23	64072	broad.mit.edu	37	10	73569700	73569700	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73569700A>G	uc001jrx.3	+	c.8846A>G	c.(8845-8847)TAC>TGC	p.Y2949C	CDH23_uc001jsg.3_Missense_Mutation_p.Y709C|CDH23_uc001jsh.3_Missense_Mutation_p.Y709C|CDH23_uc001jsi.3_Missense_Mutation_p.Y709C|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	2949	Cadherin 27.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11														0.111111	7.110238	16.505164	7	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73569700	73569700	3237	10	A	G	G	G	182	14	CDH23	4	4
OIT3	170392	broad.mit.edu	37	10	74658669	74658669	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:74658669G>T	uc001jte.1	+	c.309G>T	c.(307-309)CAG>CAT	p.Q103H	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	oncoprotein-induced transcript 3 precursor	103						nuclear envelope	calcium ion binding			ovary(2)	2	Prostate(51;0.0198)					Colon(7;19 345 13446 17537)								0.125	4.486006	8.876649	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74658669	74658669	11254	10	G	T	T	T	451	35	OIT3	2	2
EXPH5	23086	broad.mit.edu	37	11	108398907	108398907	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:108398907C>T	uc001pkk.2	-	c.448G>A	c.(448-450)GAT>AAT	p.D150N	EXPH5_uc010rvy.1_Intron|EXPH5_uc010rvz.1_5'UTR|EXPH5_uc010rwa.1_Missense_Mutation_p.D74N	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5 isoform a	150					intracellular protein transport		Rab GTPase binding			ovary(2)	2		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)										0.061224	-8.431681	11.270932	6	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108398907	108398907	5516	11	C	T	T	T	377	29	EXPH5	2	2
NTM	50863	broad.mit.edu	37	11	131781542	131781542	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:131781542G>T	uc010sci.1	+	c.167G>T	c.(166-168)AGG>ATG	p.R56M	NTM_uc001qgm.2_Missense_Mutation_p.R56M|NTM_uc010sch.1_Missense_Mutation_p.R47M|NTM_uc010scj.1_Missense_Mutation_p.R15M|NTM_uc001qgo.2_Missense_Mutation_p.R56M|NTM_uc001qgq.2_Missense_Mutation_p.R56M|NTM_uc001qgp.2_Missense_Mutation_p.R56M	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	neurotrimin isoform 3	56	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)	5												OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.076923	-0.207291	6.939945	3	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131781542	131781542	11104	11	G	T	T	T	455	35	NTM	2	2
KIF18A	81930	broad.mit.edu	37	11	28057916	28057916	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:28057916C>A	uc001msc.2	-	c.2244G>T	c.(2242-2244)TTG>TTT	p.L748F		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	748					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2														0.074627	-1.080444	11.365364	5	62	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28057916	28057916	8591	11	C	A	A	A	220	17	KIF18A	2	2
OR5F1	338674	broad.mit.edu	37	11	55761734	55761734	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:55761734T>A	uc010riv.1	-	c.368A>T	c.(367-369)TAT>TTT	p.Y123F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)													0.11215	13.128598	29.023073	12	95	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55761734	55761734	11568	11	T	A	A	A	637	49	OR5F1	3	3
VWCE	220001	broad.mit.edu	37	11	61026770	61026770	+	Silent	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:61026770G>A	uc001nra.2	-	c.2245C>T	c.(2245-2247)CTG>TTG	p.L749L	VWCE_uc001nrb.2_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	749						extracellular region	calcium ion binding			ovary(1)	1														0.159091	13.398629	18.269289	7	37	KEEP	---	---	---	---	capture		Silent	SNP	61026770	61026770	17816	11	G	A	A	A	425	33	VWCE	2	2
CNGA4	1262	broad.mit.edu	37	11	6265516	6265516	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6265516G>T	uc001mco.2	+	c.1605G>T	c.(1603-1605)CAG>CAT	p.Q535H	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	535	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)										0.122449	6.214986	13.055451	6	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	6265516	6265516	3737	11	G	T	T	T	425	33	CNGA4	2	2
NLRP14	338323	broad.mit.edu	37	11	7067906	7067906	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:7067906G>C	uc001mfb.1	+	c.1966G>C	c.(1966-1968)GAT>CAT	p.D656H		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	656					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|lung(1)|pancreas(1)	7				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)										0.097345	9.234504	27.588911	11	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7067906	7067906	10879	11	G	C	C	C	585	45	NLRP14	3	3
PRCP	5547	broad.mit.edu	37	11	82564320	82564320	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:82564320C>A	uc001ozr.2	-	c.373G>T	c.(373-375)GGG>TGG	p.G125W	PRCP_uc001ozs.2_Missense_Mutation_p.G104W	NM_199418	NP_955450	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 2 preproprotein	104					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity				0														0.064516	-4.35135	7.872957	4	58	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82564320	82564320	12891	11	C	A	A	A	286	22	PRCP	2	2
RAB38	23682	broad.mit.edu	37	11	87882916	87882916	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:87882916A>T	uc001pcj.1	-	c.410T>A	c.(409-411)ATG>AAG	p.M137K		NM_022337	NP_071732	P57729	RAB38_HUMAN	RAB38	137					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)												0.089888	8.47208	38.676542	16	162	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87882916	87882916	13387	11	A	T	T	T	104	8	RAB38	3	3
CNTN5	53942	broad.mit.edu	37	11	99827596	99827596	+	Silent	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:99827596G>T	uc001pga.2	+	c.732G>T	c.(730-732)CGG>CGT	p.R244R	CNTN5_uc009ywv.1_Silent_p.R244R|CNTN5_uc001pfz.2_Silent_p.R244R|CNTN5_uc001pgb.2_Silent_p.R170R	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	244	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)						1117				0.094118	3.839264	17.907157	8	77	KEEP	---	---	---	---	capture		Silent	SNP	99827596	99827596	3782	11	G	T	T	T	535	42	CNTN5	2	2
GAS2L3	283431	broad.mit.edu	37	12	101018250	101018250	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101018250C>T	uc001thu.2	+	c.1667C>T	c.(1666-1668)TCG>TTG	p.S556L	GAS2L3_uc009zty.2_Missense_Mutation_p.S556L|GAS2L3_uc001thv.2_Missense_Mutation_p.S452L	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	556					cell cycle arrest						0														0.172414	9.876309	12.801267	5	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101018250	101018250	6512	12	C	T	T	T	403	31	GAS2L3	1	1
TAS2R42	353164	broad.mit.edu	37	12	11338720	11338720	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:11338720G>T	uc001qzr.1	-	c.824C>A	c.(823-825)GCC>GAC	p.A275D	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	275	Helical; Name=7; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			Melanoma(15;352 722 10077 19546 48810)								0.074074	-2.512215	12.581843	6	75	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11338720	11338720	16102	12	G	T	T	T	546	42	TAS2R42	2	2
DNAH10	196385	broad.mit.edu	37	12	124382375	124382375	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:124382375G>T	uc001uft.3	+	c.8985G>T	c.(8983-8985)TTG>TTT	p.L2995F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2995	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|central_nervous_system(1)|skin(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)										0.046512	-10.673037	8.187776	4	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124382375	124382375	4780	12	G	T	T	T	607	47	DNAH10	2	2
EP400	57634	broad.mit.edu	37	12	132522304	132522304	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:132522304A>T	uc001ujn.2	+	c.6029A>T	c.(6028-6030)CAG>CTG	p.Q2010L	EP400_uc001ujl.2_Missense_Mutation_p.Q2009L|EP400_uc001ujm.2_Missense_Mutation_p.Q1929L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2046	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)										0.086207	1.230619	11.292146	5	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	132522304	132522304	5342	12	A	T	T	T	91	7	EP400	3	3
ADAMTS20	80070	broad.mit.edu	37	12	43945021	43945021	+	Silent	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:43945021G>T	uc010skx.1	-	c.144C>A	c.(142-144)GTC>GTA	p.V48V		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	48						proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)						2149				0.089286	0.631491	10.175692	5	51	KEEP	---	---	---	---	capture		Silent	SNP	43945021	43945021	267	12	G	T	T	T	574	45	ADAMTS20	2	2
VDR	7421	broad.mit.edu	37	12	48238661	48238661	+	Silent	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:48238661G>A	uc001rql.2	-	c.1302C>T	c.(1300-1302)ATC>ATT	p.I434I	VDR_uc001rqm.2_Silent_p.I384I|VDR_uc001rqn.2_Silent_p.I384I|VDR_uc010slq.1_Silent_p.I352I	NM_001017535	NP_001017535	P11473	VDR_HUMAN	vitamin D (1,25-dihydroxyvitamin D3) receptor	384	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)					190				0.076923	-0.840295	8.687703	4	48	KEEP	---	---	---	---	capture		Silent	SNP	48238661	48238661	17716	12	G	A	A	A	525	41	VDR	2	2
LETMD1	25875	broad.mit.edu	37	12	51442961	51442961	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51442961C>A	uc009zlw.2	+	c.267C>A	c.(265-267)TTC>TTA	p.F89L	LETMD1_uc010smz.1_Missense_Mutation_p.F89L|LETMD1_uc010sna.1_Missense_Mutation_p.F89L|LETMD1_uc001rxl.2_Missense_Mutation_p.F33L|LETMD1_uc009zlv.2_Non-coding_Transcript|LETMD1_uc001rxs.2_Missense_Mutation_p.F89L|LETMD1_uc001rxm.2_Missense_Mutation_p.F89L|LETMD1_uc001rxn.2_5'UTR|LETMD1_uc001rxo.2_Non-coding_Transcript|LETMD1_uc001rxp.2_Intron|LETMD1_uc001rxq.2_Missense_Mutation_p.F89L|LETMD1_uc001rxr.2_Non-coding_Transcript|LETMD1_uc001rxt.2_5'UTR	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1	89	Cytoplasmic (Potential).|LETM1.|Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2														0.068182	-1.912183	6.577471	3	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51442961	51442961	9060	12	C	A	A	A	376	29	LETMD1	2	2
THAP2	83591	broad.mit.edu	37	12	72068146	72068146	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:72068146A>G	uc001swq.2	+	c.235A>G	c.(235-237)ATT>GTT	p.I79V		NM_031435	NP_113623	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated	79	THAP-type.					nucleolus	DNA binding|metal ion binding			ovary(1)	1														0.138889	6.952208	11.489258	5	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72068146	72068146	16372	12	A	G	G	G	104	8	THAP2	4	4
STARD13	90627	broad.mit.edu	37	13	33687050	33687050	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:33687050C>G	uc001uuw.2	-	c.2300G>C	c.(2299-2301)CGG>CCG	p.R767P	STARD13_uc001uuu.2_Missense_Mutation_p.R759P|STARD13_uc001uuv.2_Missense_Mutation_p.R649P|STARD13_uc001uux.2_Missense_Mutation_p.R732P|STARD13_uc010tec.1_Non-coding_Transcript	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	767	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)	3	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)										0.333333	11.196501	11.491458	4	8	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33687050	33687050	15775	13	C	G	G	G	299	23	STARD13	3	3
SLC15A1	6564	broad.mit.edu	37	13	99336994	99336994	+	Nonsense_Mutation	SNP	G	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:99336994G>C	uc001vno.2	-	c.2111C>G	c.(2110-2112)TCA>TGA	p.S704*		NM_005073	NP_005064	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide	704	Cytoplasmic (Potential).				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)									0.176471	14.628776	17.982417	6	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	99336994	99336994	14893	13	G	C	C	C	585	45	SLC15A1	5	3
EML1	2009	broad.mit.edu	37	14	100380643	100380643	+	Splice_Site_SNP	SNP	T	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:100380643T>C	uc001ygr.2	+	c.1677_splice	c.e15+2	p.Q559_splice	EML1_uc010tww.1_Splice_Site_SNP_p.Q528_splice|EML1_uc001ygs.2_Splice_Site_SNP_p.Q540_splice	NM_001008707	NP_001008707			echinoderm microtubule associated protein like 1							cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|ovary(1)|pancreas(1)	4		Melanoma(154;0.0879)|all_epithelial(191;0.216)												0.065789	-3.180466	11.68183	5	71	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	100380643	100380643	5288	14	T	C	C	C	741	57	EML1	5	4
POTEG	404785	broad.mit.edu	37	14	19559036	19559036	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:19559036C>A	uc001vuz.1	+	c.682C>A	c.(682-684)CAT>AAT	p.H228N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	228	ANK 2.									ovary(1)	1														0.125	4.575609	8.976348	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	19559036	19559036	12696	14	C	A	A	A	221	17	POTEG	2	2
TEP1	7011	broad.mit.edu	37	14	20837598	20837598	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:20837598G>C	uc001vxe.2	-	c.7561C>G	c.(7561-7563)CCA>GCA	p.P2521A	TEP1_uc010ahj.1_Non-coding_Transcript|TEP1_uc010ahk.2_Missense_Mutation_p.P1864A|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.P2413A	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2521					telomere maintenance via recombination|telomere maintenance via telomerase	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)										0.15625	16.106655	23.331665	10	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20837598	20837598	16286	14	G	C	C	C	559	43	TEP1	3	3
LRRC16B	90668	broad.mit.edu	37	14	24538410	24538410	+	Silent	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24538410C>T	uc001wlj.2	+	c.4047C>T	c.(4045-4047)TCC>TCT	p.S1349S	LRRC16B_uc001wlk.2_Silent_p.S402S|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank|CPNE6_uc001wll.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1349										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)										0.333333	11.996167	12.291291	4	8	KEEP	---	---	---	---	capture		Silent	SNP	24538410	24538410	9346	14	C	T	T	T	301	24	LRRC16B	2	2
C14orf28	122525	broad.mit.edu	37	14	45369771	45369771	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:45369771A>T	uc001wvo.2	+	c.133A>T	c.(133-135)ACA>TCA	p.T45S	C14orf28_uc001wvp.1_Missense_Mutation_p.T45S	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN	hypothetical protein LOC122525	45										ovary(1)	1														0.083333	0.200216	6.549707	3	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	45369771	45369771	1819	14	A	T	T	T	182	14	C14orf28	3	3
NID2	22795	broad.mit.edu	37	14	52486794	52486794	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:52486794C>G	uc001wzo.2	-	c.2777G>C	c.(2776-2778)GGA>GCA	p.G926A	NID2_uc010tqs.1_Missense_Mutation_p.G878A|NID2_uc010tqt.1_Missense_Mutation_p.G926A|NID2_uc001wzp.2_Missense_Mutation_p.G926A	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	926	EGF-like 5; calcium-binding (Potential).				bioluminescence|protein-chromophore linkage	basement membrane|membrane	calcium ion binding|collagen binding			breast(2)|pancreas(2)|ovary(1)|liver(1)	6	Breast(41;0.0639)|all_epithelial(31;0.123)													0.04717	-11.970465	11.141352	5	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52486794	52486794	10816	14	C	G	G	G	390	30	NID2	3	3
SMOC1	64093	broad.mit.edu	37	14	70490074	70490074	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:70490074G>C	uc001xlt.1	+	c.1201G>C	c.(1201-1203)GCC>CCC	p.A401P	SMOC1_uc001xls.1_Missense_Mutation_p.A401P	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	401	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			pancreas(1)	1				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)										0.073801	-0.784209	49.759377	20	251	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70490074	70490074	15301	14	G	C	C	C	598	46	SMOC1	3	3
NRXN3	9369	broad.mit.edu	37	14	80164064	80164064	+	Silent	SNP	C	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:80164064C>G	uc001xun.2	+	c.2589C>G	c.(2587-2589)CTC>CTG	p.L863L	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Silent_p.L231L|NRXN3_uc010asw.2_Silent_p.L261L|NRXN3_uc001xur.3_Silent_p.L231L	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1236	Extracellular (Potential).|Laminin G-like 6.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)										0.070796	-1.894656	19.572719	8	105	KEEP	---	---	---	---	capture		Silent	SNP	80164064	80164064	11072	14	C	G	G	G	405	32	NRXN3	3	3
C14orf145	145508	broad.mit.edu	37	14	81259233	81259233	+	Silent	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:81259233C>T	uc001xux.2	-	c.1431G>A	c.(1429-1431)AAG>AAA	p.K477K	C14orf145_uc010asz.1_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CN145_HUMAN	hypothetical protein LOC145508	477	Potential.									central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0586)						1				0.075472	-1.986923	17.607203	8	98	KEEP	---	---	---	---	capture		Silent	SNP	81259233	81259233	1797	14	C	T	T	T	415	32	C14orf145	2	2
KIAA1024	23251	broad.mit.edu	37	15	79749995	79749995	+	Silent	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:79749995C>T	uc002bew.1	+	c.1506C>T	c.(1504-1506)CAC>CAT	p.H502H	KIAA1024_uc010unk.1_Silent_p.H502H	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	502						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4														0.105263	4.212328	13.038129	6	51	KEEP	---	---	---	---	capture		Silent	SNP	79749995	79749995	8512	15	C	T	T	T	220	17	KIAA1024	2	2
ACSM2A	123876	broad.mit.edu	37	16	20482505	20482505	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:20482505C>A	uc010bwe.2	+	c.707C>A	c.(706-708)TCG>TAG	p.S236*	ACSM2A_uc010bwd.1_Intron|ACSM2A_uc010vax.1_Nonsense_Mutation_p.S157*|ACSM2A_uc002dhf.3_Nonsense_Mutation_p.S236*|ACSM2A_uc002dhg.3_Nonsense_Mutation_p.S236*|ACSM2A_uc010vay.1_Nonsense_Mutation_p.S157*	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	236					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)	1														0.107692	12.468907	32.300995	14	116	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	20482505	20482505	184	16	C	A	A	A	403	31	ACSM2A	5	1
ITGAM	3684	broad.mit.edu	37	16	31309111	31309111	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31309111C>A	uc002ebr.2	+	c.1546C>A	c.(1546-1548)CAA>AAA	p.Q516K	ITGAM_uc002ebq.2_Missense_Mutation_p.Q515K|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Intron	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	integrin alpha M isoform 1 precursor	515	FG-GAP 6.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1														0.056452	-11.477181	14.159004	7	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31309111	31309111	8191	16	C	A	A	A	273	21	ITGAM	2	2
CNOT1	23019	broad.mit.edu	37	16	58572121	58572121	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:58572121C>G	uc002env.2	-	c.5185G>C	c.(5185-5187)GAG>CAG	p.E1729Q	CNOT1_uc002enw.2_Non-coding_Transcript|CNOT1_uc002enu.3_Missense_Mutation_p.E1724Q|CNOT1_uc010vik.1_Missense_Mutation_p.E686Q	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1729					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)										0.072464	-1.169451	11.799656	5	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58572121	58572121	3755	16	C	G	G	G	390	30	CNOT1	3	3
C16orf70	80262	broad.mit.edu	37	16	67168097	67168097	+	Silent	SNP	T	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:67168097T>C	uc002erc.2	+	c.477T>C	c.(475-477)TCT>TCC	p.S159S	C16orf70_uc002erd.2_Silent_p.S159S|C16orf70_uc002ere.1_Silent_p.S234S	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	159										ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)										0.066667	-1.841755	9.828863	4	56	KEEP	---	---	---	---	capture		Silent	SNP	67168097	67168097	1882	16	T	C	C	C	691	54	C16orf70	4	4
FTSJD1	55783	broad.mit.edu	37	16	71318874	71318874	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71318874C>T	uc010cga.2	-	c.950G>A	c.(949-951)TGC>TAC	p.C317Y	FTSJD1_uc002ezy.3_Missense_Mutation_p.C317Y|FTSJD1_uc002ezz.3_Missense_Mutation_p.C317Y	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	317				C -> S (in Ref. 5; AAM49718).		integral to membrane	methyltransferase activity|nucleic acid binding				0														0.105882	4.228201	17.257303	9	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71318874	71318874	6341	16	C	T	T	T	325	25	FTSJD1	2	2
ACSF3	197322	broad.mit.edu	37	16	89212437	89212437	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:89212437G>T	uc002fmp.2	+	c.1593G>T	c.(1591-1593)AGG>AGT	p.R531S	ACSF3_uc010cig.1_Missense_Mutation_p.R531S|ACSF3_uc010cih.1_Missense_Mutation_p.R266S|ACSF3_uc002fmq.1_Non-coding_Transcript|ACSF3_uc010cii.1_Non-coding_Transcript|ACSF3_uc002fmr.1_Missense_Mutation_p.R266S	NM_174917	NP_777577	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3 precursor	531					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0281)										0.085714	1.01756	6.99885	3	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89212437	89212437	177	16	G	T	T	T	555	43	ACSF3	2	2
MYH1	4619	broad.mit.edu	37	17	10400674	10400674	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10400674C>G	uc002gmo.2	-	c.4461G>C	c.(4459-4461)AAG>AAC	p.K1487N		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1487	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|breast(3)|kidney(1)|skin(1)	15										585				0.113208	8.410688	16.235116	6	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10400674	10400674	10424	17	C	G	G	G	415	32	MYH1	3	3
TMEM132E	124842	broad.mit.edu	37	17	32956216	32956216	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:32956216T>A	uc002hif.2	+	c.1061T>A	c.(1060-1062)CTG>CAG	p.L354Q		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	354	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)										0.105263	3.874621	9.75773	4	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32956216	32956216	16580	17	T	A	A	A	715	55	TMEM132E	3	3
KRT36	8689	broad.mit.edu	37	17	39644564	39644564	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39644564C>A	uc002hwt.2	-	c.630G>T	c.(628-630)AAG>AAT	p.K210N		NM_003771	NP_003762	O76013	KRT36_HUMAN	keratin 36	210	Rod.|Coil 1B.					intermediate filament	protein binding|structural constituent of epidermis				0		Breast(137;0.000286)												0.141026	14.370992	24.091655	11	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39644564	39644564	8788	17	C	A	A	A	311	24	KRT36	2	2
AOC2	314	broad.mit.edu	37	17	40997144	40997144	+	Silent	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40997144G>T	uc002ibu.2	+	c.501G>T	c.(499-501)GTG>GTT	p.V167V	AOC2_uc002ibt.2_Silent_p.V167V	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	167					catecholamine metabolic process|oxidation-reduction process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)										0.184211	12.399814	15.958911	7	31	KEEP	---	---	---	---	capture		Silent	SNP	40997144	40997144	737	17	G	T	T	T	587	46	AOC2	2	2
C17orf47	284083	broad.mit.edu	37	17	56621484	56621484	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:56621484T>G	uc002iwq.1	-	c.64A>C	c.(64-66)ACT>CCT	p.T22P		NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	hypothetical protein LOC284083	22										breast(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)													0.1	7.84617	20.626062	8	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56621484	56621484	1914	17	T	G	G	G	741	57	C17orf47	4	4
CLTC	1213	broad.mit.edu	37	17	57759112	57759112	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:57759112A>T	uc002ixr.1	+	c.3366A>T	c.(3364-3366)AAA>AAT	p.K1122N	CLTC_uc002ixp.2_Missense_Mutation_p.K1118N|CLTC_uc002ixq.1_Missense_Mutation_p.K1118N	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1118	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)	47	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)									397				0.139535	8.720392	14.118855	6	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57759112	57759112	3704	17	A	T	T	T	37	3	CLTC	3	3
CA4	762	broad.mit.edu	37	17	58236708	58236708	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:58236708G>T	uc002iym.3	+	c.862G>T	c.(862-864)GGT>TGT	p.G288C	CA4_uc010wou.1_Intron	NM_000717	NP_000708	P22748	CAH4_HUMAN	carbonic anhydrase IV precursor	288					bicarbonate transport|one-carbon metabolic process|visual perception	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)									0.333333	8.322386	8.543599	3	6	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58236708	58236708	2634	17	G	T	T	T	559	43	CA4	2	2
TLK2	11011	broad.mit.edu	37	17	60650587	60650587	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:60650587G>T	uc010ddp.2	+	c.980G>T	c.(979-981)AGG>ATG	p.R327M	TLK2_uc002izx.3_Missense_Mutation_p.R175M|TLK2_uc002izz.3_Missense_Mutation_p.R327M|TLK2_uc002jaa.3_Missense_Mutation_p.R295M|TLK2_uc010wpd.1_Missense_Mutation_p.R295M	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	tousled-like kinase 2 isoform A	327	Potential.				cell cycle|chromatin modification|intracellular signal transduction|protein phosphorylation|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|kidney(1)	2										505				0.075	-0.906645	6.506518	3	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60650587	60650587	16474	17	G	T	T	T	455	35	TLK2	2	2
TANC2	26115	broad.mit.edu	37	17	61391823	61391823	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:61391823G>T	uc002jal.3	+	c.1012G>T	c.(1012-1014)GAG>TAG	p.E338*	TANC2_uc010wpe.1_Nonsense_Mutation_p.E248*	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	338							binding			ovary(2)	2														0.104348	9.210471	27.125145	12	103	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	61391823	61391823	16066	17	G	T	T	T	429	33	TANC2	5	2
HELZ	9931	broad.mit.edu	37	17	65214798	65214798	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:65214798C>A	uc010wqk.1	-	c.123G>T	c.(121-123)ATG>ATT	p.M41I	HELZ_uc002jfv.3_Non-coding_Transcript|HELZ_uc002jfx.3_Missense_Mutation_p.M41I|HELZ_uc010des.1_Missense_Mutation_p.M41I	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)													0.097222	3.158563	14.897816	7	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65214798	65214798	7332	17	C	A	A	A	273	21	HELZ	2	2
ABCA8	10351	broad.mit.edu	37	17	66878079	66878079	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:66878079C>A	uc002jhq.2	-	c.3871G>T	c.(3871-3873)GGG>TGG	p.G1291W	ABCA8_uc002jhp.2_Missense_Mutation_p.G1251W|ABCA8_uc010wqq.1_Missense_Mutation_p.G1286W	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1251	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)	2	Breast(10;4.56e-13)													0.115702	13.543897	31.191742	14	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	66878079	66878079	39	17	C	A	A	A	312	24	ABCA8	2	2
FOXJ1	2302	broad.mit.edu	37	17	74134191	74134191	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:74134191C>A	uc002jqw.2	-	c.509G>T	c.(508-510)CGC>CTC	p.R170L	FOXJ1_uc002jqx.2_Missense_Mutation_p.R170L	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	forkhead box J1	170	Fork-head.				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			pancreas(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)											0.15	5.514345	7.861076	3	17	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74134191	74134191	6257	17	C	A	A	A	351	27	FOXJ1	1	1
TP53	7157	broad.mit.edu	37	17	7578555	7578556	+	Splice_Site_DNP	DNP	CT	AA	AA			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7578555_7578556CT>AA	uc002gim.2	-	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_DNP_p.Y126_splice|TP53_uc002gih.2_Splice_Site_DNP_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_DNP_p.Y126_splice|TP53_uc010cni.1_Splice_Site_DNP_p.Y126_splice|TP53_uc002gij.2_Splice_Site_DNP_p.Y126_splice|TP53_uc010cnj.1_Splice_Site_DNP|TP53_uc002gin.2_Splice_Site_DNP_p.Y33_splice|TP53_uc002gio.2_Splice_Site_DNP|TP53_uc010vug.1_Splice_Site_DNP_p.Y87_splice	NM_001126112	NP_001119584			tumor protein p53 isoform a						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.?(44)|p.0?(6)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	(F36P-Tumor)|(BICR56-Tumor)|(KYSE520-Tumor)|(OVCAR8-Tumor)|(BECKER-Tumor)|(CORL279-Tumor)|(SNU201-Tumor)|(SNU423-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.085106	0.060916	8.274678	4	43	KEEP	---	---	---	---	capture		Splice_Site_DNP	DNP	7578555	7578556	16923	17	CT	AA	AA	AA	260	20	TP53	5	2
MYH10	4628	broad.mit.edu	37	17	8526461	8526461	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8526461A>G	uc002glm.2	-	c.104T>C	c.(103-105)CTA>CCA	p.L35P	MYH10_uc002gll.2_Missense_Mutation_p.L35P|MYH10_uc010cnx.2_Missense_Mutation_p.L35P	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	35	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2										971				0.091743	6.164149	24.467367	10	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8526461	8526461	10425	17	A	G	G	G	195	15	MYH10	4	4
CNDP1	84735	broad.mit.edu	37	18	72226650	72226650	+	Silent	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:72226650G>T	uc002llq.2	+	c.246G>T	c.(244-246)GCG>GCT	p.A82A		NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	82					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		Melanoma(32;1029 1042 25286 38395 44237)								0.153846	6.285204	9.262962	4	22	KEEP	---	---	---	---	capture		Silent	SNP	72226650	72226650	3731	18	G	T	T	T	496	39	CNDP1	1	1
PDE4A	5141	broad.mit.edu	37	19	10571737	10571737	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:10571737G>T	uc002moj.2	+	c.1423G>T	c.(1423-1425)GTG>TTG	p.V475L	PDE4A_uc002mok.2_Missense_Mutation_p.V449L|PDE4A_uc002mol.2_Missense_Mutation_p.V414L|PDE4A_uc002mom.2_Missense_Mutation_p.V236L|PDE4A_uc002mon.2_5'UTR|PDE4A_uc002moo.2_Missense_Mutation_p.V141L	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	475	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)									0.078947	-0.490305	6.378444	3	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	10571737	10571737	12060	19	G	T	T	T	624	48	PDE4A	2	2
C19orf57	79173	broad.mit.edu	37	19	13996797	13996797	+	Silent	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:13996797A>T	uc002mxl.1	-	c.1740T>A	c.(1738-1740)GTT>GTA	p.V580V	C19orf57_uc002mxk.1_Silent_p.V462V|C19orf57_uc002mxm.1_Silent_p.V155V	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	580					multicellular organismal development		protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(19;2e-21)											0.192308	9.359883	11.659634	5	21	KEEP	---	---	---	---	capture		Silent	SNP	13996797	13996797	2003	19	A	T	T	T	54	5	C19orf57	3	3
OR7C1	26664	broad.mit.edu	37	19	14910178	14910178	+	Silent	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:14910178C>A	uc010xnz.1	-	c.771G>T	c.(769-771)GGG>GGT	p.G257G		NM_198944	NP_945182	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C,	257	Helical; Name=6; (Potential).				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.09589	2.458544	14.340771	7	66	KEEP	---	---	---	---	capture		Silent	SNP	14910178	14910178	11628	19	C	A	A	A	275	22	OR7C1	2	2
NCAN	1463	broad.mit.edu	37	19	19338661	19338661	+	Silent	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:19338661C>A	uc002nlz.2	+	c.2232C>A	c.(2230-2232)GCC>GCA	p.A744A	NCAN_uc010ecc.1_Silent_p.A308A	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	744					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)											0.111111	3.740688	10.474587	5	40	KEEP	---	---	---	---	capture		Silent	SNP	19338661	19338661	10603	19	C	A	A	A	262	21	NCAN	2	2
ZNF682	91120	broad.mit.edu	37	19	20117104	20117104	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:20117104C>A	uc002noq.2	-	c.1207G>T	c.(1207-1209)GGC>TGC	p.G403C	ZNF682_uc002noo.2_Missense_Mutation_p.G371C|ZNF682_uc002nop.2_Missense_Mutation_p.G371C|ZNF682_uc010eck.2_Missense_Mutation_p.G327C	NM_033196	NP_149973	O95780	ZN682_HUMAN	zinc finger protein 682 isoform 1	403	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2														0.086207	0.832128	10.896259	5	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20117104	20117104	18684	19	C	A	A	A	273	21	ZNF682	2	2
ZNF85	7639	broad.mit.edu	37	19	21132799	21132799	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:21132799G>T	uc002npg.3	+	c.1479G>T	c.(1477-1479)TGG>TGT	p.W493C	ZNF85_uc010ecn.2_Missense_Mutation_p.W428C|ZNF85_uc010eco.2_Missense_Mutation_p.W441C|ZNF85_uc002npi.2_Missense_Mutation_p.W434C	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	zinc finger protein 85	493	C2H2-type 13.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)	1														0.125	3.035528	7.390599	4	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21132799	21132799	18795	19	G	T	T	T	546	42	ZNF85	2	2
ZNF536	9745	broad.mit.edu	37	19	31039643	31039643	+	Silent	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31039643C>A	uc002nsu.1	+	c.3117C>A	c.(3115-3117)GTC>GTA	p.V1039V	ZNF536_uc010edd.1_Silent_p.V1039V	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	1039					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)													0.146341	6.95969	12.026679	6	35	KEEP	---	---	---	---	capture		Silent	SNP	31039643	31039643	18568	19	C	A	A	A	366	29	ZNF536	2	2
TSHZ3	57616	broad.mit.edu	37	19	31768661	31768661	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:31768661C>T	uc002nsy.3	-	c.2038G>A	c.(2038-2040)GAT>AAT	p.D680N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	680					regulation of respiratory gaseous exchange by neurological system process|regulation of transcription, DNA-dependent	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|skin(1)	7	Esophageal squamous(110;0.226)													0.08	-0.037508	8.958276	4	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31768661	31768661	17176	19	C	T	T	T	390	30	TSHZ3	2	2
CARD8	22900	broad.mit.edu	37	19	48733807	48733807	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48733807C>T	uc010xzk.1	-	c.680G>A	c.(679-681)GGG>GAG	p.G227E	CARD8_uc002pii.3_Missense_Mutation_p.G308E|CARD8_uc010xzi.1_Missense_Mutation_p.G203E|CARD8_uc010els.2_Missense_Mutation_p.G241E|CARD8_uc010xzj.1_Missense_Mutation_p.G308E|CARD8_uc002pie.3_Missense_Mutation_p.G202E|CARD8_uc002pif.3_Missense_Mutation_p.G202E|CARD8_uc002pig.3_Missense_Mutation_p.G33E|CARD8_uc002pih.3_Missense_Mutation_p.G258E|CARD8_uc010xzl.1_Missense_Mutation_p.G258E|CARD8_uc010xzm.1_Missense_Mutation_p.G308E	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	202					apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity				0		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)										0.063291	-4.675321	10.99646	5	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48733807	48733807	2770	19	C	T	T	T	286	22	CARD8	2	2
CCDC114	93233	broad.mit.edu	37	19	48801477	48801477	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:48801477C>A	uc002pir.2	-	c.1250G>T	c.(1249-1251)CGG>CTG	p.R417L	CCDC114_uc002piq.2_Missense_Mutation_p.R226L|CCDC114_uc002pio.2_Missense_Mutation_p.R454L|CCDC114_uc002pis.1_Missense_Mutation_p.R97L|CCDC114_uc002pit.1_Missense_Mutation_p.R454L	NM_144577	NP_653178	Q96M63	CC114_HUMAN	coiled-coil domain containing 114 isoform 2	417										ovary(1)	1		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)										0.130435	4.910743	7.964649	3	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48801477	48801477	2871	19	C	A	A	A	299	23	CCDC114	1	1
LILRA1	11024	broad.mit.edu	37	19	55107290	55107290	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55107290C>A	uc002qgh.1	+	c.848C>A	c.(847-849)ACC>AAC	p.T283N	LILRA2_uc010yfg.1_Missense_Mutation_p.T281N|LILRA1_uc010yfh.1_Missense_Mutation_p.T283N	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	283	Extracellular (Potential).|Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0348)										0.1	1.603124	6.398537	3	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55107290	55107290	9110	19	C	A	A	A	234	18	LILRA1	2	2
FCAR	2204	broad.mit.edu	37	19	55396733	55396733	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55396733C>A	uc002qhr.1	+	c.157C>A	c.(157-159)CGT>AGT	p.R53S	FCAR_uc002qhq.2_Missense_Mutation_p.R53S|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Missense_Mutation_p.R26S|FCAR_uc010esi.1_Missense_Mutation_p.R26S|FCAR_uc002qhu.1_Missense_Mutation_p.R53S|FCAR_uc002qhv.1_Missense_Mutation_p.R53S|FCAR_uc002qhw.1_Missense_Mutation_p.R41S|FCAR_uc002qhx.1_Missense_Mutation_p.R41S|FCAR_uc002qhy.1_Missense_Mutation_p.R41S|FCAR_uc002qhz.1_Missense_Mutation_p.R41S|FCAR_uc002qia.1_Intron	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	53	Extracellular (Potential).|Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0443)										0.162791	12.799877	17.445824	7	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55396733	55396733	6010	19	C	A	A	A	403	31	FCAR	1	1
MUC16	94025	broad.mit.edu	37	19	9085343	9085343	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9085343C>T	uc002mkp.2	-	c.6472G>A	c.(6472-6474)GGC>AGC	p.G2158S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2158	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														0.160377	32.710191	44.347166	17	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9085343	9085343	10367	19	C	T	T	T	273	21	MUC16	2	2
PALMD	54873	broad.mit.edu	37	1	100154979	100154979	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:100154979G>T	uc001dsf.2	+	c.1163G>T	c.(1162-1164)TGT>TTT	p.C388F	PALMD_uc001dsg.2_Missense_Mutation_p.C388F	NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	palmdelphin	388					regulation of cell shape	cytoplasm|membrane				ovary(1)|pancreas(1)	2		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)										0.070175	-1.744746	9.121444	4	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100154979	100154979	11828	1	G	T	T	T	624	48	PALMD	2	2
MTOR	2475	broad.mit.edu	37	1	11175493	11175493	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:11175493C>A	uc001asd.2	-	c.7049G>T	c.(7048-7050)AGT>ATT	p.S2350I	MTOR_uc001asc.2_Missense_Mutation_p.S555I	NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	2350	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|ovary(4)|kidney(3)|large_intestine(2)|skin(2)|lung(1)	19										1389				0.049587	-14.446835	11.605329	6	115	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11175493	11175493	10347	1	C	A	A	A	260	20	MTOR	2	2
HRNR	388697	broad.mit.edu	37	1	152193257	152193257	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152193257T>C	uc001ezt.1	-	c.848A>G	c.(847-849)TAT>TGT	p.Y283C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	283	3.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.061224	-5.921794	13.765227	6	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152193257	152193257	7653	1	T	C	C	C	637	49	HRNR	4	4
FLG	2312	broad.mit.edu	37	1	152281902	152281902	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152281902G>T	uc001ezu.1	-	c.5460C>A	c.(5458-5460)AGC>AGA	p.S1820R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1820	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)											0.037931	-47.329953	19.665047	11	279	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152281902	152281902	6160	1	G	T	T	T	594	46	FLG	2	2
FLG	2312	broad.mit.edu	37	1	152281970	152281970	+	Silent	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152281970G>T	uc001ezu.1	-	c.5392C>A	c.(5392-5394)CGA>AGA	p.R1798R		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1798	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)											0.124402	38.384851	67.133969	26	183	KEEP	---	---	---	---	capture		Silent	SNP	152281970	152281970	6160	1	G	T	T	T	519	40	FLG	1	1
FLG2	388698	broad.mit.edu	37	1	152328290	152328290	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152328290A>G	uc001ezw.3	-	c.1972T>C	c.(1972-1974)TAT>CAT	p.Y658H		NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	658	Ser-rich.						calcium ion binding|structural molecule activity			ovary(9)|breast(1)	10	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											0.039007	-40.299218	24.380168	11	271	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152328290	152328290	6161	1	A	G	G	G	208	16	FLG2	4	4
FCRL2	79368	broad.mit.edu	37	1	157738454	157738454	+	Silent	SNP	G	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157738454G>C	uc001fre.2	-	c.633C>G	c.(631-633)GCC>GCG	p.A211A	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.A211A|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	211	Ig-like C2-type 3.|Extracellular (Potential).				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			ovary(1)|pancreas(1)	2	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)											0.062827	-17.798036	20.210524	12	179	KEEP	---	---	---	---	capture		Silent	SNP	157738454	157738454	6032	1	G	C	C	C	548	43	FCRL2	3	3
DARC	2532	broad.mit.edu	37	1	159175743	159175743	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159175743G>A	uc001ftp.3	+	c.520G>A	c.(520-522)GGA>AGA	p.G174R	DARC_uc001fto.2_Missense_Mutation_p.G172R	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform a	172	Helical; Name=4; (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)													0.214286	6.919606	7.97334	3	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159175743	159175743	4407	1	G	A	A	A	559	43	DARC	2	2
LMX1A	4009	broad.mit.edu	37	1	165182944	165182944	+	Silent	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:165182944G>T	uc001gcy.1	-	c.603C>A	c.(601-603)ATC>ATA	p.I201I	LMX1A_uc001gcz.1_Silent_p.I201I|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	201	Homeobox.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4	all_hematologic(923;0.248)													0.059908	-18.110349	25.855515	13	204	KEEP	---	---	---	---	capture		Silent	SNP	165182944	165182944	9190	1	G	T	T	T	421	33	LMX1A	2	2
ILDR2	387597	broad.mit.edu	37	1	166904656	166904656	+	Silent	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:166904656G>T	uc001gdx.1	-	c.762C>A	c.(760-762)CCC>CCA	p.P254P		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	254	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1														0.047619	-10.399355	7.83502	4	80	KEEP	---	---	---	---	capture		Silent	SNP	166904656	166904656	8011	1	G	T	T	T	496	39	ILDR2	1	1
SLC9A11	284525	broad.mit.edu	37	1	173502880	173502880	+	Silent	SNP	A	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:173502880A>G	uc001giz.2	-	c.2031T>C	c.(2029-2031)TTT>TTC	p.F677F	SLC9A11_uc009wwe.2_Silent_p.F235F|SLC9A11_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	677	Helical; (Potential).|Ion transport-like (By similarity).				sodium ion transport	integral to membrane	solute:hydrogen antiporter activity			ovary(2)	2														0.121622	14.75201	25.104677	9	65	KEEP	---	---	---	---	capture		Silent	SNP	173502880	173502880	15208	1	A	G	G	G	167	13	SLC9A11	4	4
CRB1	23418	broad.mit.edu	37	1	197404113	197404113	+	Silent	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:197404113C>A	uc001gtz.2	+	c.3120C>A	c.(3118-3120)TCC>TCA	p.S1040S	CRB1_uc010poz.1_Silent_p.S1016S|CRB1_uc010ppa.1_Non-coding_Transcript|CRB1_uc009wza.2_Silent_p.S928S|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Silent_p.S521S|CRB1_uc001gub.1_Silent_p.S689S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1040	Extracellular (Potential).|Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity|response to stimulus|visual perception	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|large_intestine(1)	6														0.058824	-10.276445	13.98908	7	112	KEEP	---	---	---	---	capture		Silent	SNP	197404113	197404113	3987	1	C	A	A	A	262	21	CRB1	2	2
TMCO4	255104	broad.mit.edu	37	1	20063897	20063897	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:20063897T>A	uc001bcn.2	-	c.1232A>T	c.(1231-1233)TAC>TTC	p.Y411F	TMCO4_uc001bcm.2_Intron|TMCO4_uc001bco.1_Missense_Mutation_p.Y411F|TMCO4_uc001bcp.1_Missense_Mutation_p.Y371F	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	411						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)										0.076923	-1.98906	14.636686	7	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20063897	20063897	16528	1	T	A	A	A	741	57	TMCO4	3	3
KIF21B	23046	broad.mit.edu	37	1	200967546	200967546	+	Silent	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:200967546T>A	uc001gvs.1	-	c.2043A>T	c.(2041-2043)ACA>ACT	p.T681T	KIF21B_uc001gvr.1_Silent_p.T681T|KIF21B_uc009wzl.1_Silent_p.T681T|KIF21B_uc010ppn.1_Silent_p.T681T	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	681	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3														0.162791	13.39921	18.045562	7	36	KEEP	---	---	---	---	capture		Silent	SNP	200967546	200967546	8600	1	T	A	A	A	756	59	KIF21B	3	3
PIK3C2B	5287	broad.mit.edu	37	1	204415206	204415206	+	Silent	SNP	C	G	G	rs115140514	by1000genomes	TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:204415206C>G	uc001haw.2	-	c.2556G>C	c.(2554-2556)TCG>TCC	p.S852S	PIK3C2B_uc010pqv.1_Intron	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	852					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|central_nervous_system(1)	3	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)							466		OREG0014135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.071429	-3.375594	9.779157	5	65	KEEP	---	---	---	---	capture		Silent	SNP	204415206	204415206	12334	1	C	G	G	G	340	27	PIK3C2B	3	3
LYST	1130	broad.mit.edu	37	1	235973558	235973558	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:235973558A>G	uc001hxj.2	-	c.560T>C	c.(559-561)CTG>CCG	p.L187P	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.L187P	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	187					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											0.075342	-4.104319	22.99305	11	135	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	235973558	235973558	9505	1	A	G	G	G	91	7	LYST	4	4
ZP4	57829	broad.mit.edu	37	1	238053264	238053264	+	Silent	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:238053264G>T	uc001hym.2	-	c.303C>A	c.(301-303)TCC>TCA	p.S101S	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	101	Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			NSCLC(166;160 2029 11600 18754 19936)								0.044068	-40.426687	25.08914	13	282	KEEP	---	---	---	---	capture		Silent	SNP	238053264	238053264	18822	1	G	T	T	T	548	43	ZP4	2	2
KIF26B	55083	broad.mit.edu	37	1	245848849	245848849	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:245848849C>A	uc001ibf.1	+	c.2564C>A	c.(2563-2565)TCC>TAC	p.S855Y	KIF26B_uc001ibg.1_Missense_Mutation_p.S473Y|KIF26B_uc001ibh.1_Missense_Mutation_p.S97Y	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	855					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)											0.25	8.590537	9.501331	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	245848849	245848849	8606	1	C	A	A	A	390	30	KIF26B	2	2
KIF26B	55083	broad.mit.edu	37	1	245848860	245848860	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:245848860G>A	uc001ibf.1	+	c.2575G>A	c.(2575-2577)GAG>AAG	p.E859K	KIF26B_uc001ibg.1_Missense_Mutation_p.E477K|KIF26B_uc001ibh.1_Missense_Mutation_p.E101K	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	859					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)											0.235294	9.491737	10.581069	4	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	245848860	245848860	8606	1	G	A	A	A	481	37	KIF26B	1	1
NLRP3	114548	broad.mit.edu	37	1	247588857	247588857	+	Silent	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:247588857G>T	uc001icr.2	+	c.2112G>T	c.(2110-2112)GTG>GTT	p.V704V	NLRP3_uc001ics.2_Silent_p.V704V|NLRP3_uc001icu.2_Silent_p.V704V|NLRP3_uc001icw.2_Silent_p.V704V|NLRP3_uc001icv.2_Silent_p.V704V|NLRP3_uc010pyw.1_Silent_p.V702V|NLRP3_uc001ict.1_Silent_p.V702V	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	704					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			ovary(5)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	11	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)							412				0.081081	0.003335	6.612612	3	34	KEEP	---	---	---	---	capture		Silent	SNP	247588857	247588857	10881	1	G	T	T	T	587	46	NLRP3	2	2
OR2AK2	391191	broad.mit.edu	37	1	248128876	248128876	+	Silent	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248128876C>A	uc010pzd.1	+	c.243C>A	c.(241-243)CTC>CTA	p.L81L	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	81	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			Melanoma(45;390 1181 23848 28461 41504)								0.063559	-20.480744	26.368739	15	221	KEEP	---	---	---	---	capture		Silent	SNP	248128876	248128876	11392	1	C	A	A	A	405	32	OR2AK2	2	2
OR2M3	127062	broad.mit.edu	37	1	248367065	248367065	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248367065G>T	uc010pzg.1	+	c.696G>T	c.(694-696)GAG>GAT	p.E232D		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.036932	-58.741208	22.998496	13	339	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	248367065	248367065	11417	1	G	T	T	T	451	35	OR2M3	2	2
OR2T33	391195	broad.mit.edu	37	1	248436331	248436331	+	Silent	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:248436331G>T	uc010pzi.1	-	c.786C>A	c.(784-786)TCC>TCA	p.S262S		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)											0.052023	-19.272294	17.45855	9	164	KEEP	---	---	---	---	capture		Silent	SNP	248436331	248436331	11430	1	G	T	T	T	548	43	OR2T33	2	2
SESN2	83667	broad.mit.edu	37	1	28599220	28599220	+	Silent	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:28599220A>T	uc001bps.2	+	c.666A>T	c.(664-666)GCA>GCT	p.A222A		NM_031459	NP_113647	P58004	SESN2_HUMAN	sestrin 2	222					cell cycle arrest	cytoplasm|nucleus				skin(3)|ovary(2)|pancreas(1)|lung(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)										0.076923	-0.503395	6.64075	3	36	KEEP	---	---	---	---	capture		Silent	SNP	28599220	28599220	14613	1	A	T	T	T	80	7	SESN2	3	3
DAB1	1600	broad.mit.edu	37	1	57476947	57476947	+	Splice_Site_SNP	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:57476947T>A	uc001cys.1	-	c.1445_splice	c.e15-1	p.P482_splice	DAB1_uc001cyt.1_Splice_Site_SNP_p.P480_splice|DAB1_uc001cyq.1_Splice_Site_SNP_p.P480_splice|DAB1_uc001cyr.1_Splice_Site_SNP_p.P396_splice|DAB1_uc009vzw.1_Splice_Site_SNP_p.P464_splice|DAB1_uc009vzx.1_Splice_Site_SNP_p.P482_splice	NM_021080	NP_066566			disabled homolog 1						cell differentiation|nervous system development					ovary(1)	1										395				0.119565	11.599397	24.644029	11	81	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	57476947	57476947	4383	1	T	A	A	A	689	53	DAB1	5	3
LEPR	3953	broad.mit.edu	37	1	66074555	66074556	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:66074555_66074556GG>AT	uc001dci.2	+	c.1723_1724GG>AT	c.(1723-1725)GGT>ATT	p.G575I	LEPR_uc001dcg.2_Missense_Mutation_p.G575I|LEPR_uc001dch.2_Missense_Mutation_p.G575I|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.G575I|LEPR_uc001dck.2_Missense_Mutation_p.G575I	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	575	Extracellular (Potential).|Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity				0				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)										0.086957	1.157486	13.020868	6	63	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	66074555	66074556	9052	1	GG	AT	AT	AT	611	47	LEPR	2	2
LRRC7	57554	broad.mit.edu	37	1	70494020	70494020	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:70494020A>T	uc001dep.2	+	c.1847A>T	c.(1846-1848)AAG>ATG	p.K616M	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	616						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.083333	-0.537608	7.938714	4	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70494020	70494020	9396	1	A	T	T	T	39	3	LRRC7	3	3
ELTD1	64123	broad.mit.edu	37	1	79403637	79403637	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:79403637A>T	uc001diq.3	-	c.615T>A	c.(613-615)GAT>GAA	p.D205E		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	205	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)	1				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)										0.072289	-0.915185	14.711108	6	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	79403637	79403637	5276	1	A	T	T	T	206	16	ELTD1	3	3
CLCA1	1179	broad.mit.edu	37	1	86957029	86957029	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:86957029G>T	uc001dlt.2	+	c.1439G>T	c.(1438-1440)GGA>GTA	p.G480V	CLCA1_uc001dls.1_Missense_Mutation_p.G419V	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	480					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)										0.089744	1.869531	15.118018	7	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	86957029	86957029	3593	1	G	T	T	T	533	41	CLCA1	2	2
DHX35	60625	broad.mit.edu	37	20	37617507	37617507	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:37617507G>T	uc002xjh.2	+	c.397G>T	c.(397-399)GGC>TGC	p.G133C	DHX35_uc010zwa.1_5'UTR|DHX35_uc010zwb.1_5'UTR|DHX35_uc010zwc.1_Missense_Mutation_p.G102C	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	133	Helicase ATP-binding.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)												0.120482	10.809856	22.519209	10	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37617507	37617507	4687	20	G	T	T	T	559	43	DHX35	2	2
PCK1	5105	broad.mit.edu	37	20	56138640	56138640	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56138640C>A	uc002xyn.3	+	c.818C>A	c.(817-819)CCT>CAT	p.P273H	PCK1_uc010zzm.1_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	273					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity				0	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)											0.095238	1.477809	8.377527	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	56138640	56138640	12001	20	C	A	A	A	312	24	PCK1	2	2
PCK1	5105	broad.mit.edu	37	20	56140518	56140518	+	Silent	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:56140518C>A	uc002xyn.3	+	c.1527C>A	c.(1525-1527)CCC>CCA	p.P509P	PCK1_uc010zzm.1_Silent_p.P192P	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	509					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity				0	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)											0.088889	0.263536	7.955233	4	41	KEEP	---	---	---	---	capture		Silent	SNP	56140518	56140518	12001	20	C	A	A	A	262	21	PCK1	2	2
PLCB4	5332	broad.mit.edu	37	20	9400527	9400527	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:9400527G>A	uc002wne.2	+	c.2089G>A	c.(2089-2091)GGT>AGT	p.G697S	PLCB4_uc010gbw.1_Missense_Mutation_p.G697S|PLCB4_uc010gbx.2_Missense_Mutation_p.G709S|PLCB4_uc002wnf.2_Missense_Mutation_p.G697S|PLCB4_uc002wnh.2_Missense_Mutation_p.G544S	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform a	697	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			ovary(3)|pancreas(1)|skin(1)	5														0.092105	2.268611	15.001542	7	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9400527	9400527	12456	20	G	A	A	A	611	47	PLCB4	2	2
KRTAP11-1	337880	broad.mit.edu	37	21	32253488	32253488	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:32253488C>A	uc002yov.2	-	c.356G>T	c.(355-357)AGT>ATT	p.S119I		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	119	4 X 10 AA approximate repeats.|1.					keratin filament	structural molecule activity			pancreas(1)	1														0.12	5.512443	12.600965	6	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32253488	32253488	8832	21	C	A	A	A	260	20	KRTAP11-1	2	2
SLC7A4	6545	broad.mit.edu	37	22	21384605	21384605	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:21384605G>T	uc002zud.2	-	c.1018C>A	c.(1018-1020)CTG>ATG	p.L340M	SLC7A4_uc002zue.2_Missense_Mutation_p.L340M	NM_004173	NP_004164	O43246	CTR4_HUMAN	solute carrier family 7 (cationic amino acid	340					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			ovary(1)|lung(1)	2	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)									0.1875	5.91538	7.379214	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21384605	21384605	15196	22	G	T	T	T	451	35	SLC7A4	2	2
MGAT3	4248	broad.mit.edu	37	22	39884033	39884033	+	Silent	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:39884033G>A	uc003axv.3	+	c.681G>A	c.(679-681)GAG>GAA	p.E227E	MGAT3_uc010gxy.2_Silent_p.E227E	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	227	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)													0.266667	10.892992	11.630787	4	11	KEEP	---	---	---	---	capture		Silent	SNP	39884033	39884033	9934	22	G	A	A	A	438	34	MGAT3	2	2
SCUBE1	80274	broad.mit.edu	37	22	43617230	43617230	+	Silent	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:43617230G>T	uc003bdt.1	-	c.1498C>A	c.(1498-1500)CGG>AGG	p.R500R		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	500					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)	4		all_neural(38;0.0414)|Ovarian(80;0.07)												0.4	12.29823	12.385602	4	6	KEEP	---	---	---	---	capture		Silent	SNP	43617230	43617230	14427	22	G	T	T	T	506	39	SCUBE1	1	1
IL1RL2	8808	broad.mit.edu	37	2	102828581	102828581	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:102828581G>A	uc002tbs.2	+	c.671G>A	c.(670-672)GGA>GAA	p.G224E	IL1RL2_uc002tbt.2_Missense_Mutation_p.G106E	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	224	Extracellular (Potential).|Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2														0.059701	-5.558366	8.03351	4	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102828581	102828581	7965	2	G	A	A	A	533	41	IL1RL2	2	2
TMEM182	130827	broad.mit.edu	37	2	103414410	103414410	+	Silent	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103414410C>T	uc010fjb.2	+	c.420C>T	c.(418-420)TTC>TTT	p.F140F	TMEM182_uc002tcc.3_Silent_p.F97F|TMEM182_uc002tcd.3_Silent_p.F44F|TMEM182_uc010ywe.1_Non-coding_Transcript	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	transmembrane protein 182 precursor	140	Cytoplasmic (Potential).					integral to membrane					0														0.070175	-2.444509	8.423857	4	53	KEEP	---	---	---	---	capture		Silent	SNP	103414410	103414410	16635	2	C	T	T	T	402	31	TMEM182	1	1
LCT	3938	broad.mit.edu	37	2	136561575	136561575	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:136561575C>T	uc002tuu.1	-	c.4588G>A	c.(4588-4590)GTG>ATG	p.V1530M		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1530	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|lung(1)|pancreas(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.169)										0.069767	-1.907151	6.309453	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	136561575	136561575	9017	2	C	T	T	T	234	18	LCT	2	2
THSD7B	80731	broad.mit.edu	37	2	137990703	137990703	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:137990703G>T	uc002tva.1	+	c.2057G>T	c.(2056-2058)AGA>ATA	p.R686I	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.R576I	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)										0.102564	3.576073	9.710054	4	35	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	137990703	137990703	16408	2	G	T	T	T	455	35	THSD7B	2	2
LRP1B	53353	broad.mit.edu	37	2	141665553	141665553	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141665553G>T	uc002tvj.1	-	c.3413C>A	c.(3412-3414)CCA>CAA	p.P1138Q	LRP1B_uc010fnl.1_Missense_Mutation_p.P320Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1138	Extracellular (Potential).|LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P1138L(1)		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)			0.060606	-10.272768	10.003883	6	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	141665553	141665553	9328	2	G	T	T	T	611	47	LRP1B	2	2
ZEB2	9839	broad.mit.edu	37	2	145155914	145155914	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:145155914G>T	uc002tvu.2	-	c.2840C>A	c.(2839-2841)GCT>GAT	p.A947D	ZEB2_uc002tvv.2_Missense_Mutation_p.A941D|ZEB2_uc010zbm.1_Missense_Mutation_p.A918D|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.A976D	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	947					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|large_intestine(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.112)		Melanoma(33;1235 1264 5755 16332)								0.066667	-3.351769	8.330739	4	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145155914	145155914	18212	2	G	T	T	T	442	34	ZEB2	2	2
TANC1	85461	broad.mit.edu	37	2	160020027	160020027	+	Silent	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:160020027C>T	uc002uag.2	+	c.916C>T	c.(916-918)CTA>TTA	p.L306L	TANC1_uc010fol.1_Silent_p.L200L|TANC1_uc010zcm.1_Silent_p.L305L|TANC1_uc010fom.1_Intron	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	306						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3														0.075	-0.007403	7.405203	3	37	KEEP	---	---	---	---	capture		Silent	SNP	160020027	160020027	16065	2	C	T	T	T	259	20	TANC1	2	2
DPP4	1803	broad.mit.edu	37	2	162894882	162894882	+	Silent	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:162894882T>A	uc002ubz.2	-	c.543A>T	c.(541-543)CCA>CCT	p.P181P	DPP4_uc010fpb.2_5'UTR|DPP4_uc002uca.1_Non-coding_Transcript|DPP4_uc002ucb.1_Non-coding_Transcript	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	181	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)									0.090909	1.499813	7.067225	3	30	KEEP	---	---	---	---	capture		Silent	SNP	162894882	162894882	4913	2	T	A	A	A	808	63	DPP4	3	3
FAP	2191	broad.mit.edu	37	2	163075644	163075644	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:163075644G>T	uc002ucd.2	-	c.536C>A	c.(535-537)CCA>CAA	p.P179Q	FAP_uc010zct.1_Missense_Mutation_p.P154Q|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.P146Q	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	179	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3														0.053191	-9.401358	10.408222	5	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	163075644	163075644	5909	2	G	T	T	T	611	47	FAP	2	2
ABCB11	8647	broad.mit.edu	37	2	169850327	169850327	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:169850327G>T	uc002ueo.1	-	c.677C>A	c.(676-678)TCG>TAG	p.S226*		NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	226	ABC transmembrane type-1 1.|Helical; (Potential).				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)									0.0875	1.169627	14.93894	7	73	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	169850327	169850327	43	2	G	T	T	T	481	37	ABCB11	5	1
LRP2	4036	broad.mit.edu	37	2	170063225	170063225	+	Silent	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:170063225G>T	uc002ues.2	-	c.7005C>A	c.(7003-7005)CCC>CCA	p.P2335P		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2335	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	23				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)					2055				0.084746	-0.772341	9.562551	5	54	KEEP	---	---	---	---	capture		Silent	SNP	170063225	170063225	9329	2	G	T	T	T	548	43	LRP2	2	2
OSBPL6	114880	broad.mit.edu	37	2	179250197	179250197	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179250197C>A	uc002uly.2	+	c.2101C>A	c.(2101-2103)CCA>ACA	p.P701T	OSBPL6_uc002ulx.2_Missense_Mutation_p.P676T|OSBPL6_uc010zfe.1_Missense_Mutation_p.P645T|OSBPL6_uc002ulz.2_Missense_Mutation_p.P640T|OSBPL6_uc002uma.2_Missense_Mutation_p.P680T	NM_145739	NP_665682	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	676					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)											0.109589	6.55443	17.565263	8	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179250197	179250197	11692	2	C	A	A	A	390	30	OSBPL6	2	2
TTN	7273	broad.mit.edu	37	2	179442618	179442618	+	Silent	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179442618A>T	uc010zfg.1	-	c.60831T>A	c.(60829-60831)CCT>CCA	p.P20277P	TTN_uc010zfh.1_Silent_p.P13972P|TTN_uc010zfi.1_Silent_p.P13905P|TTN_uc010zfj.1_Silent_p.P13780P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:Variant_position_missing_in_Q4ZG20_after_alignment										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.086207	1.129409	11.192428	5	53	KEEP	---	---	---	---	capture		Silent	SNP	179442618	179442618	17290	2	A	T	T	T	80	7	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179587009	179587009	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179587009G>C	uc010zfg.1	-	c.18773C>G	c.(18772-18774)TCT>TGT	p.S6258C	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2919C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3227										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.051948	-6.863174	9.48219	4	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179587009	179587009	17290	2	G	C	C	C	429	33	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179636129	179636129	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179636129T>C	uc010zfg.1	-	c.7925A>G	c.(7924-7926)GAA>GGA	p.E2642G	TTN_uc010zfh.1_Missense_Mutation_p.E2596G|TTN_uc010zfi.1_Missense_Mutation_p.E2596G|TTN_uc010zfj.1_Missense_Mutation_p.E2596G|TTN_uc002unb.2_Missense_Mutation_p.E2642G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2642										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)							8722				0.089552	4.424398	15.794385	6	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179636129	179636129	17290	2	T	C	C	C	806	62	TTN	4	4
ITGA4	3676	broad.mit.edu	37	2	182339745	182339745	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:182339745G>T	uc002unu.2	+	c.378G>T	c.(376-378)TGG>TGT	p.W126C	ITGA4_uc010zfl.1_Missense_Mutation_p.W126C	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	126	FG-GAP 2.|Extracellular (Potential).				B cell differentiation|blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)									0.067797	-2.548252	8.860094	4	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	182339745	182339745	8182	2	G	T	T	T	572	44	ITGA4	2	2
NRP2	8828	broad.mit.edu	37	2	206590765	206590765	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:206590765G>T	uc002vaw.2	+	c.949G>T	c.(949-951)GGC>TGC	p.G317C	NRP2_uc002vat.2_Missense_Mutation_p.G317C|NRP2_uc002vau.2_Missense_Mutation_p.G317C|NRP2_uc002vav.2_Missense_Mutation_p.G317C|NRP2_uc002vax.2_Missense_Mutation_p.G317C|NRP2_uc002vay.2_Missense_Mutation_p.G317C|NRP2_uc010fud.2_Missense_Mutation_p.G317C	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	317	Extracellular (Potential).|F5/8 type C 1.				axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			ovary(1)|central_nervous_system(1)	2														0.096154	3.034318	11.540384	5	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	206590765	206590765	11066	2	G	T	T	T	611	47	NRP2	2	2
PLEKHM3	389072	broad.mit.edu	37	2	208866199	208866199	+	Silent	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:208866199T>A	uc002vcl.2	-	c.165A>T	c.(163-165)ACA>ACT	p.T55T	PLEKHM3_uc002vcm.2_Silent_p.T55T	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	55					intracellular signal transduction		metal ion binding			ovary(1)	1														0.042945	-22.209078	14.30661	7	156	KEEP	---	---	---	---	capture		Silent	SNP	208866199	208866199	12508	2	T	A	A	A	704	55	PLEKHM3	3	3
ERBB4	2066	broad.mit.edu	37	2	212589829	212589829	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:212589829C>A	uc002veg.1	-	c.713G>T	c.(712-714)TGC>TTC	p.C238F	ERBB4_uc002veh.1_Missense_Mutation_p.C238F|ERBB4_uc010zji.1_Missense_Mutation_p.C238F|ERBB4_uc010zjj.1_Missense_Mutation_p.C238F|ERBB4_uc010fut.1_Missense_Mutation_p.C238F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	238	Cys-rich.|Extracellular (Potential).				cell proliferation|protein phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(12)|large_intestine(1)|breast(1)	14		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)						777	TSP Lung(8;0.080)			0.101266	6.040357	18.573132	8	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	212589829	212589829	5402	2	C	A	A	A	325	25	ERBB4	2	2
SLC11A1	6556	broad.mit.edu	37	2	219251378	219251378	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219251378G>T	uc002vhv.2	+	c.414G>T	c.(412-414)TGG>TGT	p.W138C	SLC11A1_uc010zkb.1_Missense_Mutation_p.G163V|SLC11A1_uc010fvp.1_Missense_Mutation_p.W138C|SLC11A1_uc010fvq.1_Missense_Mutation_p.W71C|SLC11A1_uc010zkc.1_Missense_Mutation_p.W71C|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.2_Missense_Mutation_p.W20C|SLC11A1_uc010fvr.2_5'UTR	NM_000578	NP_000569	P49279	NRAM1_HUMAN	natural resistance-associated macrophage protein	138	Cytoplasmic (Potential).				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			ovary(3)|central_nervous_system(1)	4		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)										0.1875	6.017365	7.479221	3	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219251378	219251378	14875	2	G	T	T	T	546	42	SLC11A1	2	2
C2orf83	56918	broad.mit.edu	37	2	228476173	228476173	+	Silent	SNP	T	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:228476173T>G	uc002vph.2	-	c.390A>C	c.(388-390)ACA>ACC	p.T130T	C2orf83_uc010zlu.1_3'UTR	NM_020161	NP_064546	Q53S99	CB083_HUMAN	hypothetical protein LOC56918 isoform 1	130						membrane	folic acid binding|reduced folate carrier activity				0														0.098765	6.244785	19.283491	8	73	KEEP	---	---	---	---	capture		Silent	SNP	228476173	228476173	2290	2	T	G	G	G	704	55	C2orf83	4	4
OTOF	9381	broad.mit.edu	37	2	26693553	26693553	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:26693553C>G	uc002rhk.2	-	c.3931G>C	c.(3931-3933)GGC>CGC	p.G1311R	OTOF_uc010yla.1_Missense_Mutation_p.G41R|OTOF_uc002rhh.2_Missense_Mutation_p.G544R|OTOF_uc002rhi.2_Missense_Mutation_p.G621R|OTOF_uc002rhj.2_Missense_Mutation_p.G544R	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1311	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GBM(102;732 1451 20652 24062 31372)								0.097561	3.069672	9.71868	4	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	26693553	26693553	11715	2	C	G	G	G	286	22	OTOF	3	3
KCNG3	170850	broad.mit.edu	37	2	42671148	42671148	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:42671148C>A	uc002rsn.2	-	c.1237G>T	c.(1237-1239)GTG>TTG	p.V413L	KCNG3_uc002rsm.2_Missense_Mutation_p.V402L	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G,	413	Helical; Name=Segment S6; (Potential).					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)	1														0.068182	-2.823589	14.153623	6	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42671148	42671148	8334	2	C	A	A	A	221	17	KCNG3	2	2
GKN1	56287	broad.mit.edu	37	2	69204659	69204659	+	Silent	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:69204659A>T	uc002sfc.2	+	c.87A>T	c.(85-87)CTA>CTT	p.L29L		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	18 kDa antrum mucosa protein precursor	29					digestion|positive regulation of cell division	extracellular region				breast(1)	1														0.131868	18.340161	30.32002	12	79	KEEP	---	---	---	---	capture		Silent	SNP	69204659	69204659	6692	2	A	T	T	T	184	15	GKN1	3	3
ADCY5	111	broad.mit.edu	37	3	123044228	123044228	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:123044228C>G	uc003egh.1	-	c.2029G>C	c.(2029-2031)GAG>CAG	p.E677Q	ADCY5_uc003egg.1_Missense_Mutation_p.E310Q|ADCY5_uc003egi.1_Missense_Mutation_p.E236Q	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	677	Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)										0.052632	-6.96166	9.10798	4	72	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	123044228	123044228	298	3	C	G	G	G	377	29	ADCY5	3	3
EPHB1	2047	broad.mit.edu	37	3	134967157	134967157	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:134967157G>T	uc003eqt.2	+	c.2497_splice	c.e14-1	p.V833_splice	EPHB1_uc003equ.2_Splice_Site_SNP_p.V394_splice	NM_004441	NP_004432			ephrin receptor EphB1 precursor						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.083333	0.396905	6.748969	3	33	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	134967157	134967157	5367	3	G	T	T	T	455	35	EPHB1	5	2
C3orf79	152118	broad.mit.edu	37	3	153202422	153202422	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:153202422A>G	uc003ezt.2	+	c.77A>G	c.(76-78)CAT>CGT	p.H26R		NM_001101337	NP_001094807	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	26											0														0.042904	-48.269703	19.674801	13	290	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153202422	153202422	2341	3	A	G	G	G	104	8	C3orf79	4	4
SI	6476	broad.mit.edu	37	3	164748533	164748533	+	Silent	SNP	T	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:164748533T>C	uc003fei.2	-	c.2859A>G	c.(2857-2859)CAA>CAG	p.Q953Q		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	953	Lumenal.|P-type 2.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|pancreas(1)	8		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)									0.076923	1.319323	20.372248	8	96	KEEP	---	---	---	---	capture		Silent	SNP	164748533	164748533	14792	3	T	C	C	C	829	64	SI	4	4
YEATS2	55689	broad.mit.edu	37	3	183446631	183446632	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183446631_183446632GG>TT	uc003fly.2	+	c.804_805GG>TT	c.(802-807)GTGGAA>GTTTAA	p.E269*		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	269	YEATS.				histone H3 acetylation|negative regulation of gene-specific transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	specific transcriptional repressor activity|TBP-class protein binding			ovary(2)|large_intestine(1)	3	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)											0.089286	2.830417	12.370332	5	51	KEEP	---	---	---	---	capture		Nonsense_Mutation	DNP	183446631	183446632	18055	3	GG	TT	TT	TT	600	47	YEATS2	5	2
CRYGS	1427	broad.mit.edu	37	3	186256671	186256671	+	Silent	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:186256671G>A	uc003fqe.2	-	c.351C>T	c.(349-351)TCC>TCT	p.S117S	CRYGS_uc003fqf.2_Silent_p.S117S	NM_017541	NP_060011	P22914	CRBS_HUMAN	crystallin, gamma S	117	Beta/gamma crystallin 'Greek key' 3.						structural constituent of eye lens				0	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)										0.121951	12.590708	24.072217	10	72	KEEP	---	---	---	---	capture		Silent	SNP	186256671	186256671	4058	3	G	A	A	A	600	47	CRYGS	2	2
LPP	4026	broad.mit.edu	37	3	188327400	188327400	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:188327400G>A	uc003frs.1	+	c.881G>A	c.(880-882)GGA>GAA	p.G294E	LPP_uc011bsg.1_Intron|LPP_uc011bsi.1_Missense_Mutation_p.G294E|LPP_uc003frt.2_Missense_Mutation_p.G294E|LPP_uc011bsj.1_Missense_Mutation_p.G131E	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	294	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|ovary(1)	162	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)						184				0.148148	19.285142	28.881919	12	69	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	188327400	188327400	9296	3	G	A	A	A	533	41	LPP	2	2
C3orf59	151963	broad.mit.edu	37	3	192517357	192517357	+	Silent	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:192517357C>A	uc011bsp.1	-	c.294G>T	c.(292-294)GTG>GTT	p.V98V		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	98											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)										0.04878	-9.615671	8.075853	4	78	KEEP	---	---	---	---	capture		Silent	SNP	192517357	192517357	2330	3	C	A	A	A	262	21	C3orf59	2	2
ACAP2	23527	broad.mit.edu	37	3	195063225	195063225	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:195063225T>A	uc003fun.3	-	c.503A>T	c.(502-504)CAC>CTC	p.H168L	ACAP2_uc003fuo.2_Missense_Mutation_p.H168L	NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	168	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.071429	-2.281078	10.967614	5	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	195063225	195063225	120	3	T	A	A	A	767	59	ACAP2	3	3
ACAP2	23527	broad.mit.edu	37	3	195063241	195063241	+	Nonsense_Mutation	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:195063241T>A	uc003fun.3	-	c.487A>T	c.(487-489)AGA>TGA	p.R163*	ACAP2_uc003fuo.2_Nonsense_Mutation_p.R163*	NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	163	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2														0.101449	4.972012	15.907747	7	62	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	195063241	195063241	120	3	T	A	A	A	726	56	ACAP2	5	3
SETD2	29072	broad.mit.edu	37	3	47098912	47098912	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:47098912C>A	uc003cqv.2	-	c.6563G>T	c.(6562-6564)CGC>CTC	p.R2188L	SETD2_uc003cqs.2_Missense_Mutation_p.R2121L|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2121	Potential.				oxidation-reduction process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)										0.083333	2.015333	14.698588	6	66	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47098912	47098912	14620	3	C	A	A	A	351	27	SETD2	1	1
OR5H6	79295	broad.mit.edu	37	3	97983440	97983440	+	Silent	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:97983440G>A	uc003dsi.1	+	c.312G>A	c.(310-312)AAG>AAA	p.K104K		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	104	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|skin(1)	2														0.069307	-3.556314	15.798549	7	94	KEEP	---	---	---	---	capture		Silent	SNP	97983440	97983440	11573	3	G	A	A	A	425	33	OR5H6	2	2
ANK2	287	broad.mit.edu	37	4	114279001	114279001	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114279001A>T	uc003ibe.3	+	c.9227A>T	c.(9226-9228)CAG>CTG	p.Q3076L	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.Q378L|ANK2_uc011cgb.1_Missense_Mutation_p.Q3091L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3043					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)	13		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)										0.123596	13.265888	25.600728	11	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114279001	114279001	624	4	A	T	T	T	91	7	ANK2	3	3
ANK2	287	broad.mit.edu	37	4	114294269	114294269	+	Silent	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:114294269C>A	uc003ibe.3	+	c.11634C>A	c.(11632-11634)CCC>CCA	p.P3878P	ANK2_uc003ibd.3_Silent_p.P1784P|ANK2_uc003ibf.3_Silent_p.P1793P|ANK2_uc011cgc.1_Silent_p.P969P|ANK2_uc003ibg.3_Silent_p.P808P|ANK2_uc003ibh.3_Silent_p.P498P|ANK2_uc011cgd.1_Silent_p.P1180P|ANK2_uc010imr.2_5'Flank|ANK2_uc010ims.2_5'Flank	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3845					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)										0.066327	-10.670599	27.545434	13	183	KEEP	---	---	---	---	capture		Silent	SNP	114294269	114294269	624	4	C	A	A	A	275	22	ANK2	2	2
QRFPR	84109	broad.mit.edu	37	4	122250793	122250793	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:122250793G>T	uc010inj.1	-	c.972C>A	c.(970-972)AAC>AAA	p.N324K	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_3'UTR	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	324	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity				0														0.069767	-1.006752	7.207912	3	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122250793	122250793	13336	4	G	T	T	T	464	36	QRFPR	2	2
KIAA0922	23240	broad.mit.edu	37	4	154524536	154524536	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:154524536G>T	uc010ipp.2	+	c.2721G>T	c.(2719-2721)AGG>AGT	p.R907S	KIAA0922_uc003inm.3_Missense_Mutation_p.R906S|KIAA0922_uc010ipq.2_Missense_Mutation_p.R675S	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 1	906	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1	all_hematologic(180;0.093)	Renal(120;0.118)												0.07	-4.657257	14.432526	7	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154524536	154524536	8508	4	G	T	T	T	542	42	KIAA0922	2	2
GLRB	2743	broad.mit.edu	37	4	158041792	158041792	+	Silent	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:158041792C>T	uc003ipj.2	+	c.207C>T	c.(205-207)CCC>CCT	p.P69P		NM_000824	NP_000815	P48167	GLRB_HUMAN	glycine receptor, beta isoform A precursor	69	Extracellular (Probable).				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)									0.088889	1.325667	16.708136	8	82	KEEP	---	---	---	---	capture		Silent	SNP	158041792	158041792	6726	4	C	T	T	T	262	21	GLRB	2	2
MED28	80306	broad.mit.edu	37	4	17616422	17616422	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:17616422G>A	uc003gpi.1	+	c.145G>A	c.(145-147)GAG>AAG	p.E49K	MED28_uc003gpj.2_Non-coding_Transcript	NM_025205	NP_079481	Q9H204	MED28_HUMAN	mediator complex subunit 28	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding				0														0.104167	7.978302	22.946712	10	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17616422	17616422	9835	4	G	A	A	A	533	41	MED28	2	2
PPARGC1A	10891	broad.mit.edu	37	4	23803432	23803432	+	Silent	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:23803432C>T	uc003gqs.2	-	c.2214G>A	c.(2212-2214)TTG>TTA	p.L738L	PPARGC1A_uc003gqt.2_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	738	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription mediator activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)	6		Breast(46;0.0503)				Esophageal Squamous(29;694 744 13796 34866 44181)				410				0.1	2.575983	13.772006	7	63	KEEP	---	---	---	---	capture		Silent	SNP	23803432	23803432	12730	4	C	T	T	T	324	25	PPARGC1A	2	2
GUF1	60558	broad.mit.edu	37	4	44688028	44688028	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:44688028A>G	uc003gww.3	+	c.722A>G	c.(721-723)GAA>GGA	p.E241G	GUF1_uc010ifz.1_Non-coding_Transcript	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	241					translation	mitochondrial inner membrane	GTP binding|GTPase activity				0														0.082474	3.2267	20.424306	8	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44688028	44688028	7179	4	A	G	G	G	117	9	GUF1	4	4
GABRG1	2565	broad.mit.edu	37	4	46060352	46060352	+	Silent	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:46060352C>A	uc003gxb.2	-	c.798G>T	c.(796-798)CTG>CTT	p.L266L		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	266	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)										0.068493	-3.184672	10.872952	5	68	KEEP	---	---	---	---	capture		Silent	SNP	46060352	46060352	6422	4	C	A	A	A	366	29	GABRG1	2	2
LRRC66	339977	broad.mit.edu	37	4	52861612	52861613	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:52861612_52861613CC>AG	uc003gzi.2	-	c.1575_1576GG>CT	c.(1573-1578)CAGGAC>CACTAC	p.525_526QD>HY		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	525_526						integral to membrane				ovary(1)|central_nervous_system(1)	2														0.085714	1.309622	25.657901	12	128	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	52861612	52861613	9393	4	CC	AG	AG	AG	390	30	LRRC66	2	2
SRP72	6731	broad.mit.edu	37	4	57357634	57357634	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:57357634C>G	uc003hbv.2	+	c.1540C>G	c.(1540-1542)CTA>GTA	p.L514V	SRP72_uc010ihe.2_Missense_Mutation_p.L453V|SRP72_uc003hbw.1_Missense_Mutation_p.L275V	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	514					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)													0.058824	-6.875857	17.381287	7	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57357634	57357634	15671	4	C	G	G	G	415	32	SRP72	3	3
CRMP1	1400	broad.mit.edu	37	4	5862927	5862927	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:5862927C>A	uc003gis.2	-	c.481G>T	c.(481-483)GAG>TAG	p.E161*	CRMP1_uc003gin.1_Intron|CRMP1_uc003gip.2_Nonsense_Mutation_p.E47*|CRMP1_uc003giq.2_Nonsense_Mutation_p.E47*|CRMP1_uc003gir.2_Nonsense_Mutation_p.E42*	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 1	47					axon guidance|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(1)	1				Colorectal(103;0.0721)										0.117647	9.987803	22.208505	10	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	5862927	5862927	4029	4	C	A	A	A	416	32	CRMP1	5	2
UGT2B4	7363	broad.mit.edu	37	4	70346367	70346367	+	Silent	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70346367C>T	uc003hek.3	-	c.1572G>A	c.(1570-1572)AAG>AAA	p.K524K	UGT2B4_uc011cap.1_Silent_p.K388K|UGT2B4_uc003hel.3_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	524					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0														0.056338	-5.33379	9.3287	4	67	KEEP	---	---	---	---	capture		Silent	SNP	70346367	70346367	17519	4	C	T	T	T	311	24	UGT2B4	2	2
UGT2B4	7363	broad.mit.edu	37	4	70361152	70361152	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:70361152G>T	uc003hek.3	-	c.428C>A	c.(427-429)TCA>TAA	p.S143*	UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Nonsense_Mutation_p.S143*	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	143					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity				0														0.147059	7.850397	11.922057	5	29	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	70361152	70361152	17519	4	G	T	T	T	585	45	UGT2B4	5	2
DCK	1633	broad.mit.edu	37	4	71863875	71863875	+	Silent	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:71863875T>A	uc003hfx.2	+	c.183T>A	c.(181-183)GTT>GTA	p.V61V	DCK_uc011cbb.1_5'UTR	NM_000788	NP_000779	P27707	DCK_HUMAN	deoxycytidine kinase	61					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			ovary(1)	1			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)									0.081967	-0.372116	10.478936	5	56	KEEP	---	---	---	---	capture		Silent	SNP	71863875	71863875	4461	4	T	A	A	A	795	62	DCK	3	3
GC	2638	broad.mit.edu	37	4	72631341	72631341	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:72631341T>A	uc010iif.2	-	c.338A>T	c.(337-339)AAG>ATG	p.K113M	GC_uc003hgd.2_Intron|GC_uc010iie.2_Missense_Mutation_p.K94M|GC_uc003hge.2_Missense_Mutation_p.K94M	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	94	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)	2		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)									0.082192	-0.707594	12.263319	6	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	72631341	72631341	6548	4	T	A	A	A	728	56	GC	3	3
FAM13A	10144	broad.mit.edu	37	4	89912230	89912230	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:89912230G>A	uc003hse.1	-	c.499C>T	c.(499-501)CTC>TTC	p.L167F	FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Missense_Mutation_p.L167F|FAM13A_uc003hsj.2_Missense_Mutation_p.L167F	NM_014883	NP_055698	O94988	FA13A_HUMAN	family with sequence similarity 13, member A1	167	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|liver(1)	2														0.068182	-1.211275	7.276553	3	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	89912230	89912230	5649	4	G	A	A	A	455	35	FAM13A	2	2
GRID2	2895	broad.mit.edu	37	4	94690496	94690496	+	Silent	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:94690496A>T	uc011cdt.1	+	c.2496A>T	c.(2494-2496)GCA>GCT	p.A832A	GRID2_uc011cdu.1_Silent_p.A737A	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	832	Helical; (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)									0.1875	38.893722	47.672274	18	78	KEEP	---	---	---	---	capture		Silent	SNP	94690496	94690496	7050	4	A	T	T	T	80	7	GRID2	3	3
CTNND2	1501	broad.mit.edu	37	5	11098731	11098731	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:11098731C>A	uc003jfa.1	-	c.2593G>T	c.(2593-2595)GGG>TGG	p.G865W	CTNND2_uc010itt.2_Missense_Mutation_p.G774W|CTNND2_uc011cmy.1_Missense_Mutation_p.G528W|CTNND2_uc011cmz.1_Missense_Mutation_p.G432W|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G432W	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	865	ARM 7.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|pancreas(1)|lung(1)|skin(1)	7														0.095238	2.369062	9.274534	4	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	11098731	11098731	4179	5	C	A	A	A	312	24	CTNND2	2	2
FAM105A	54491	broad.mit.edu	37	5	14601519	14601519	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:14601519G>C	uc003jfj.2	+	c.316G>C	c.(316-318)GGA>CGA	p.G106R		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	hypothetical protein LOC54491	106										ovary(1)	1	Lung NSC(4;0.00592)													0.129032	8.456186	16.770646	8	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14601519	14601519	5584	5	G	C	C	C	455	35	FAM105A	3	3
MED7	9443	broad.mit.edu	37	5	156566062	156566062	+	Silent	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:156566062T>A	uc010jik.2	-	c.381A>T	c.(379-381)CGA>CGT	p.R127R	MED7_uc003lwm.3_Silent_p.R127R	NM_001100816	NP_001094286	O43513	MED7_HUMAN	mediator complex subunit 7	127					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|RNA polymerase II transcription mediator activity|transcription coactivator activity				0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)											0.122449	5.023133	11.859712	6	43	KEEP	---	---	---	---	capture		Silent	SNP	156566062	156566062	9841	5	T	A	A	A	743	58	MED7	3	3
GHR	2690	broad.mit.edu	37	5	42689086	42689086	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:42689086G>T	uc003jmt.2	+	c.231G>T	c.(229-231)AAG>AAT	p.K77N	GHR_uc011cpq.1_Intron	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	77	Extracellular (Potential).				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(2)|kidney(1)	3		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)					274				0.090164	1.932777	22.610957	11	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	42689086	42689086	6639	5	G	T	T	T	425	33	GHR	2	2
HOMER1	9456	broad.mit.edu	37	5	78752776	78752776	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:78752776C>A	uc003kfy.2	-	c.71G>T	c.(70-72)TGG>TTG	p.W24L	HOMER1_uc010jab.2_Missense_Mutation_p.W24L|HOMER1_uc010jac.2_Missense_Mutation_p.W24L|HOMER1_uc010jad.2_Intron	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	homer 1	24	WH1.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane					0		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)										0.087591	2.755057	26.276013	12	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	78752776	78752776	7570	5	C	A	A	A	273	21	HOMER1	2	2
ERAP2	64167	broad.mit.edu	37	5	96239250	96239250	+	Silent	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:96239250G>T	uc003kmq.2	+	c.1998G>T	c.(1996-1998)GTG>GTT	p.V666V	ERAP2_uc003kmt.2_Silent_p.V666V|ERAP2_uc003kmr.2_Non-coding_Transcript|ERAP2_uc003kms.2_Silent_p.V615V|ERAP2_uc003kmu.2_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	666	Lumenal (Potential).				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding				0		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)										0.111111	5.153952	11.872938	5	40	KEEP	---	---	---	---	capture		Silent	SNP	96239250	96239250	5397	5	G	T	T	T	613	48	ERAP2	2	2
NKAIN2	154215	broad.mit.edu	37	6	124979487	124979487	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:124979487C>A	uc003pzo.2	+	c.429C>A	c.(427-429)TAC>TAA	p.Y143*	NKAIN2_uc003pzn.1_Nonsense_Mutation_p.Y143*|NKAIN2_uc003pzp.2_Nonsense_Mutation_p.Y142*|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Nonsense_Mutation_p.Y53*	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	143						integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)										0.125	16.794034	32.167458	14	98	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	124979487	124979487	10837	6	C	A	A	A	233	18	NKAIN2	5	2
THEMIS	387357	broad.mit.edu	37	6	128151040	128151040	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:128151040G>A	uc011ebt.1	-	c.290C>T	c.(289-291)ACT>ATT	p.T97I	THEMIS_uc010kfa.2_5'UTR|THEMIS_uc003qbi.2_Missense_Mutation_p.T97I|THEMIS_uc010kfb.2_Missense_Mutation_p.T62I	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	97	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)	2														0.066667	-1.353865	7.350499	3	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128151040	128151040	16388	6	G	A	A	A	468	36	THEMIS	2	2
LTV1	84946	broad.mit.edu	37	6	144167209	144167209	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:144167209G>A	uc003qjs.2	+	c.157G>A	c.(157-159)GCA>ACA	p.A53T		NM_032860	NP_116249	Q96GA3	LTV1_HUMAN	LTV1 homolog	53										ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)										0.059701	-5.158465	8.432594	4	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144167209	144167209	9457	6	G	A	A	A	442	34	LTV1	2	2
JARID2	3720	broad.mit.edu	37	6	15487658	15487658	+	Missense_Mutation	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:15487658A>T	uc003nbj.2	+	c.791A>T	c.(790-792)CAG>CTG	p.Q264L	JARID2_uc011diu.1_Missense_Mutation_p.Q128L|JARID2_uc011div.1_Missense_Mutation_p.Q92L|JARID2_uc011diw.1_Missense_Mutation_p.Q226L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	264					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)								694				0.2	13.438746	15.945563	6	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15487658	15487658	8249	6	A	T	T	T	91	7	JARID2	3	3
KIF13A	63971	broad.mit.edu	37	6	17873668	17873668	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:17873668C>A	uc003ncg.3	-	c.160G>T	c.(160-162)GTA>TTA	p.V54L	KIF13A_uc003ncf.2_Missense_Mutation_p.V54L|KIF13A_uc003nch.3_Missense_Mutation_p.V54L|KIF13A_uc003nci.3_Missense_Mutation_p.V54L	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	54	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)											0.3	15.545959	16.258605	6	14	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17873668	17873668	8585	6	C	A	A	A	234	18	KIF13A	2	2
BTN3A2	11118	broad.mit.edu	37	6	26370770	26370770	+	Silent	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:26370770A>T	uc010jqh.1	+	c.654A>T	c.(652-654)GTA>GTT	p.V218V	BTN3A2_uc003nho.1_Silent_p.V216V|BTN3A2_uc003nhp.2_Silent_p.V218V|BTN3A2_uc011dkd.1_Silent_p.V176V|BTN3A2_uc011dke.1_Silent_p.V195V|BTN3A2_uc010jqi.1_Silent_p.V216V	NM_007047	NP_008978	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2 precursor	218	Extracellular (Potential).					integral to membrane					0														0.081301	-1.488218	20.43676	10	113	KEEP	---	---	---	---	capture		Silent	SNP	26370770	26370770	1597	6	A	T	T	T	197	16	BTN3A2	3	3
TRIM15	89870	broad.mit.edu	37	6	30131594	30131594	+	Nonsense_Mutation	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:30131594C>T	uc010jrx.2	+	c.133C>T	c.(133-135)CAG>TAG	p.Q45*	TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	NM_033229	NP_150232	Q9C019	TRI15_HUMAN	tripartite motif protein 15	45	RING-type.				mesodermal cell fate determination	intracellular	zinc ion binding				0														0.081081	0.458737	7.017476	3	34	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	30131594	30131594	17034	6	C	T	T	T	273	21	TRIM15	5	2
NOTCH4	4855	broad.mit.edu	37	6	32184944	32184944	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:32184944C>A	uc003obb.2	-	c.1724G>T	c.(1723-1725)TGC>TTC	p.C575F	NOTCH4_uc011dpu.1_Non-coding_Transcript|NOTCH4_uc011dpv.1_Non-coding_Transcript|NOTCH4_uc003obc.2_Missense_Mutation_p.C575F	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	575	Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			ovary(5)|lung(5)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	14										693				0.135135	7.456772	12.224835	5	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32184944	32184944	10954	6	C	A	A	A	325	25	NOTCH4	2	2
DNAH8	1769	broad.mit.edu	37	6	38866152	38866152	+	Missense_Mutation	SNP	T	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:38866152T>C	uc003ooe.1	+	c.8408T>C	c.(8407-8409)ATT>ACT	p.I2803T		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	2803	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.133333	14.159658	21.986805	8	52	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38866152	38866152	4790	6	T	C	C	C	676	52	DNAH8	4	4
TFAP2D	83741	broad.mit.edu	37	6	50686809	50686809	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:50686809G>A	uc003paf.2	+	c.544G>A	c.(544-546)GTG>ATG	p.V182M	TFAP2D_uc011dwt.1_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	182					regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)													0.136364	9.018762	14.65357	6	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50686809	50686809	16318	6	G	A	A	A	624	48	TFAP2D	2	2
COL19A1	1310	broad.mit.edu	37	6	70745809	70745809	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:70745809C>T	uc003pfc.1	+	c.1148C>T	c.(1147-1149)CCC>CTC	p.P383L	COL19A1_uc010kam.1_Missense_Mutation_p.P279L	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	383	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4														0.121951	4.717356	10.541679	5	36	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70745809	70745809	3814	6	C	T	T	T	286	22	COL19A1	2	2
KCNQ5	56479	broad.mit.edu	37	6	73904438	73904438	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:73904438G>T	uc011dyh.1	+	c.2157G>T	c.(2155-2157)CAG>CAT	p.Q719H	KCNQ5_uc011dyi.1_Missense_Mutation_p.Q710H|KCNQ5_uc010kat.2_Missense_Mutation_p.Q691H|KCNQ5_uc003pgk.2_Missense_Mutation_p.Q700H|KCNQ5_uc011dyj.1_Missense_Mutation_p.Q590H|KCNQ5_uc011dyk.1_Missense_Mutation_p.Q450H	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	700					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)	6		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GBM(142;1375 1859 14391 23261 44706)								0.120805	19.839462	40.851095	18	131	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73904438	73904438	8391	6	G	T	T	T	425	33	KCNQ5	2	2
RIOK1	83732	broad.mit.edu	37	6	7396953	7396953	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:7396953G>T	uc003mxn.2	+	c.385G>T	c.(385-387)GAT>TAT	p.D129Y	RIOK1_uc003mxm.1_Missense_Mutation_p.D25Y	NM_031480	NP_113668	Q9BRS2	RIOK1_HUMAN	RIO kinase 1 isoform 1	129							ATP binding|protein serine/threonine kinase activity			ovary(2)	2	Ovarian(93;0.0418)									302				0.079646	-2.104923	18.27386	9	104	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7396953	7396953	13854	6	G	T	T	T	585	45	RIOK1	2	2
DOPEY1	23033	broad.mit.edu	37	6	83846908	83846908	+	Silent	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:83846908C>A	uc011dyy.1	+	c.3120C>A	c.(3118-3120)CTC>CTA	p.L1040L	DOPEY1_uc003pjs.1_Silent_p.L1049L|DOPEY1_uc010kbl.1_Silent_p.L1040L|DOPEY1_uc003pjt.2_Non-coding_Transcript	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1049					protein transport					ovary(2)|breast(1)	3		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)										0.078431	-0.621895	8.62441	4	47	KEEP	---	---	---	---	capture		Silent	SNP	83846908	83846908	4891	6	C	A	A	A	366	29	DOPEY1	2	2
DOCK4	9732	broad.mit.edu	37	7	111418396	111418396	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:111418396C>A	uc003vfy.2	-	c.3723G>T	c.(3721-3723)GAG>GAT	p.E1241D	DOCK4_uc011kml.1_Missense_Mutation_p.E77D|DOCK4_uc011kmm.1_Missense_Mutation_p.E103D|DOCK4_uc003vfw.2_Missense_Mutation_p.E646D|DOCK4_uc003vfx.2_Missense_Mutation_p.E1196D	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1196	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(1;0.0441)												0.045113	-17.059099	12.350733	6	127	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111418396	111418396	4873	7	C	A	A	A	311	24	DOCK4	2	2
FOXP2	93986	broad.mit.edu	37	7	114294037	114294037	+	Silent	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:114294037C>A	uc003vgz.2	+	c.1314C>A	c.(1312-1314)CCC>CCA	p.P438P	FOXP2_uc003vgu.2_Non-coding_Transcript|FOXP2_uc003vha.2_Silent_p.P321P|FOXP2_uc003vhb.2_Silent_p.P413P|FOXP2_uc011kmu.1_Silent_p.P430P|FOXP2_uc011kmv.1_Silent_p.P412P|FOXP2_uc010ljz.1_Silent_p.P321P|FOXP2_uc003vhd.2_Silent_p.P413P|FOXP2_uc003vhc.2_Silent_p.P438P	NM_148898	NP_683696	O15409	FOXP2_HUMAN	forkhead box P2 isoform II	413					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of gene-specific transcription from RNA polymerase II promoter|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|lung(1)|breast(1)|pancreas(1)	7														0.083333	1.191095	28.68399	13	143	KEEP	---	---	---	---	capture		Silent	SNP	114294037	114294037	6273	7	C	A	A	A	301	24	FOXP2	2	2
POT1	25913	broad.mit.edu	37	7	124510999	124510999	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:124510999T>A	uc003vlm.2	-	c.221A>T	c.(220-222)AAA>ATA	p.K74I	POT1_uc011koe.1_Non-coding_Transcript|POT1_uc003vlk.2_Non-coding_Transcript|POT1_uc003vll.2_Non-coding_Transcript|POT1_uc003vlo.2_Intron|POT1_uc003vln.2_Non-coding_Transcript	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	74					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1						Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)								0.09434	1.935479	10.697907	5	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	124510999	124510999	12689	7	T	A	A	A	832	64	POT1	3	3
AKR1B10	57016	broad.mit.edu	37	7	134222956	134222956	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:134222956G>T	uc003vrr.2	+	c.752G>T	c.(751-753)CGT>CTT	p.R251L		NM_020299	NP_064695	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10	251					cellular aldehyde metabolic process|digestion|oxidation-reduction process|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding				0														0.049689	-17.081171	17.512113	8	153	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134222956	134222956	470	7	G	T	T	T	520	40	AKR1B10	1	1
CNTNAP2	26047	broad.mit.edu	37	7	146818111	146818111	+	Silent	SNP	G	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:146818111G>C	uc003weu.1	+	c.795G>C	c.(793-795)GTG>GTC	p.V265V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	265	Laminin G-like 1.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.094595	5.268011	17.483078	7	67	KEEP	---	---	---	---	capture		Silent	SNP	146818111	146818111	3785	7	G	C	C	C	574	45	CNTNAP2	3	3
CNTNAP2	26047	broad.mit.edu	37	7	147336343	147336343	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:147336343C>A	uc003weu.1	+	c.2043C>A	c.(2041-2043)TAC>TAA	p.Y681*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	681	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)											0.153846	20.851515	29.786703	12	66	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	147336343	147336343	3785	7	C	A	A	A	259	20	CNTNAP2	5	2
ZNF107	51427	broad.mit.edu	37	7	64167568	64167568	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:64167568G>T	uc003ttd.2	+	c.886G>T	c.(886-888)GGA>TGA	p.G296*	ZNF107_uc003tte.2_Nonsense_Mutation_p.G296*	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)												0.078947	-0.248366	13.45704	6	70	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	64167568	64167568	18306	7	G	T	T	T	611	47	ZNF107	5	2
ABCB4	5244	broad.mit.edu	37	7	87035723	87035723	+	Missense_Mutation	SNP	C	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:87035723C>T	uc003uiv.1	-	c.3388G>A	c.(3388-3390)GAC>AAC	p.D1130N	ABCB4_uc003uiw.1_Missense_Mutation_p.D1123N|ABCB4_uc003uix.1_Missense_Mutation_p.D1076N	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1130	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|pancreas(1)	5	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)													0.080745	-3.918957	24.919929	13	148	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87035723	87035723	44	7	C	T	T	T	377	29	ABCB4	2	2
PTCD1	26024	broad.mit.edu	37	7	99031021	99031021	+	Silent	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:99031021C>A	uc011kiw.1	-	c.621G>T	c.(619-621)CTG>CTT	p.L207L	PTCD1_uc003uqh.2_Silent_p.L158L	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	158	PPR 1.									ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)											0.061856	-6.030253	13.392586	6	91	KEEP	---	---	---	---	capture		Silent	SNP	99031021	99031021	13181	7	C	A	A	A	210	17	PTCD1	2	2
TRPS1	7227	broad.mit.edu	37	8	116632198	116632198	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:116632198C>G	uc003yny.2	-	c.127G>C	c.(127-129)GTA>CTA	p.V43L	TRPS1_uc011lhy.1_Missense_Mutation_p.V34L|TRPS1_uc010mcy.2_Missense_Mutation_p.V30L|TRPS1_uc003ynz.2_Missense_Mutation_p.V30L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	30					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				0.090909	3.73378	13.011034	5	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116632198	116632198	17144	8	C	G	G	G	234	18	TRPS1	3	3
GOT1L1	137362	broad.mit.edu	37	8	37794329	37794329	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:37794329C>A	uc011lbj.1	-	c.672G>T	c.(670-672)TTG>TTT	p.L224F		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	224					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			ovary(1)	1	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)											0.075	-0.70756	6.706042	3	37	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37794329	37794329	6853	8	C	A	A	A	272	21	GOT1L1	2	2
PRKDC	5591	broad.mit.edu	37	8	48689457	48689457	+	Missense_Mutation	SNP	T	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:48689457T>G	uc003xqi.2	-	c.12130A>C	c.(12130-12132)ATA>CTA	p.I4044L	PRKDC_uc003xqj.2_Missense_Mutation_p.I4013L|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	4044					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of gene-specific transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				Esophageal Squamous(79;1091 1253 12329 31680 40677)				1566				0.09375	2.700927	8.008443	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	48689457	48689457	12964	8	T	G	G	G	676	52	PRKDC	4	4
SLCO5A1	81796	broad.mit.edu	37	8	70585416	70585416	+	Silent	SNP	G	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:70585416G>C	uc003xyl.2	-	c.2235C>G	c.(2233-2235)CTC>CTG	p.L745L	SLCO5A1_uc010lzb.2_Silent_p.L690L|SLCO5A1_uc011lfa.1_Non-coding_Transcript|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	745	Helical; Name=12; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)	3	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)											0.104046	19.154679	46.11406	18	155	KEEP	---	---	---	---	capture		Silent	SNP	70585416	70585416	15228	8	G	C	C	C	574	45	SLCO5A1	3	3
SLCO5A1	81796	broad.mit.edu	37	8	70585515	70585515	+	Silent	SNP	G	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:70585515G>C	uc003xyl.2	-	c.2136C>G	c.(2134-2136)ACC>ACG	p.T712T	SLCO5A1_uc010lzb.2_Silent_p.T657T|SLCO5A1_uc011lfa.1_Non-coding_Transcript|SLCO5A1_uc003xyk.2_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	712	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)	3	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)											0.09375	5.557527	42.684063	21	203	KEEP	---	---	---	---	capture		Silent	SNP	70585515	70585515	15228	8	G	C	C	C	444	35	SLCO5A1	3	3
ZFHX4	79776	broad.mit.edu	37	8	77616704	77616704	+	Silent	SNP	A	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77616704A>T	uc003yav.2	+	c.381A>T	c.(379-381)CTA>CTT	p.L127L	ZFHX4_uc003yat.1_Silent_p.L127L|ZFHX4_uc003yau.1_Silent_p.L127L|ZFHX4_uc003yaw.1_Silent_p.L127L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	127					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)											0.112903	17.533029	45.078595	21	165	KEEP	---	---	---	---	capture		Silent	SNP	77616704	77616704	18223	8	A	T	T	T	158	13	ZFHX4	3	3
ZFHX4	79776	broad.mit.edu	37	8	77617862	77617862	+	Missense_Mutation	SNP	T	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:77617862T>A	uc003yav.2	+	c.1539T>A	c.(1537-1539)AGT>AGA	p.S513R	ZFHX4_uc003yat.1_Missense_Mutation_p.S513R|ZFHX4_uc003yau.1_Missense_Mutation_p.S513R|ZFHX4_uc003yaw.1_Missense_Mutation_p.S513R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	513					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)											0.102041	2.435107	10.189988	5	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77617862	77617862	18223	8	T	A	A	A	764	59	ZFHX4	3	3
CNGB3	54714	broad.mit.edu	37	8	87679272	87679272	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87679272G>T	uc003ydx.2	-	c.733C>A	c.(733-735)CAA>AAA	p.Q245K	CNGB3_uc010maj.2_Missense_Mutation_p.Q107K	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	245	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3														0.109756	6.612129	18.98044	9	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	87679272	87679272	3739	8	G	T	T	T	585	45	CNGB3	2	2
SVEP1	79987	broad.mit.edu	37	9	113231346	113231346	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:113231346G>C	uc010mtz.2	-	c.3034C>G	c.(3034-3036)CAT>GAT	p.H1012D	SVEP1_uc010mua.1_Missense_Mutation_p.H1012D	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1012					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7														0.065421	-4.462778	16.516516	7	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113231346	113231346	15940	9	G	C	C	C	624	48	SVEP1	3	3
TLR4	7099	broad.mit.edu	37	9	120466837	120466837	+	Nonsense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:120466837C>A	uc004bjz.2	+	c.87C>A	c.(85-87)TGC>TGA	p.C29*	TLR4_uc004bka.2_5'UTR|TLR4_uc004bkb.2_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	29	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									p.C29C(NH6-Tumor)	157				0.052632	-7.035273	9.007793	4	72	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	120466837	120466837	16483	9	C	A	A	A	350	27	TLR4	5	1
NUP188	23511	broad.mit.edu	37	9	131752435	131752435	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131752435A>G	uc004bws.1	+	c.2570A>G	c.(2569-2571)AAA>AGA	p.K857R	NUP188_uc004bwu.2_Missense_Mutation_p.K200R	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	857					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|kidney(1)|breast(1)	6														0.104072	20.674012	55.155177	23	198	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131752435	131752435	11163	9	A	G	G	G	13	1	NUP188	4	4
IFNA10	3446	broad.mit.edu	37	9	21206859	21206859	+	Missense_Mutation	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21206859G>A	uc003zoq.1	-	c.238C>T	c.(238-240)CTC>TTC	p.L80F	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	interferon, alpha 10 precursor	80					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)										0.072727	-0.53795	9.785382	4	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21206859	21206859	7833	9	G	A	A	A	455	35	IFNA10	2	2
IFNA10	3446	broad.mit.edu	37	9	21206861	21206861	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:21206861A>G	uc003zoq.1	-	c.236T>C	c.(235-237)GTC>GCC	p.V79A	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	interferon, alpha 10 precursor	79					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)										0.072727	-0.341964	9.984993	4	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21206861	21206861	7833	9	A	G	G	G	130	10	IFNA10	4	4
PAX5	5079	broad.mit.edu	37	9	36882059	36882059	+	Silent	SNP	G	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:36882059G>A	uc003zzo.1	-	c.954C>T	c.(952-954)CAC>CAT	p.H318H	PAX5_uc011lpt.1_Silent_p.H114H|PAX5_uc011lpu.1_Intron|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Silent_p.H275H|PAX5_uc011lqa.1_Silent_p.H210H|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Intron|PAX5_uc010mlp.1_Silent_p.H318H|PAX5_uc011lqc.1_Silent_p.H275H|PAX5_uc010mlr.1_Intron	NM_016734	NP_057953	Q02548	PAX5_HUMAN	paired box 5	318					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	haematopoietic_and_lymphoid_tissue(139)|central_nervous_system(2)	141		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)						323				0.25	9.795535	10.702444	4	12	KEEP	---	---	---	---	capture		Silent	SNP	36882059	36882059	11902	9	G	A	A	A	516	40	PAX5	1	1
ZNF658	26149	broad.mit.edu	37	9	40784553	40784553	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:40784553C>A	uc004abs.2	-	c.66G>T	c.(64-66)TGG>TGT	p.W22C	ZNF658_uc010mmm.1_Missense_Mutation_p.W22C|ZNF658_uc010mmn.1_Missense_Mutation_p.W22C	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)										0.136364	4.310149	7.127079	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40784553	40784553	18664	9	C	A	A	A	338	26	ZNF658	2	2
PTPRD	5789	broad.mit.edu	37	9	8518184	8518184	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:8518184G>T	uc003zkk.2	-	c.1207C>A	c.(1207-1209)CCT>ACT	p.P403T	PTPRD_uc003zkp.2_Missense_Mutation_p.P403T|PTPRD_uc003zkq.2_Missense_Mutation_p.P403T|PTPRD_uc003zkr.2_Missense_Mutation_p.P397T|PTPRD_uc003zks.2_Missense_Mutation_p.P393T|PTPRD_uc003zkl.2_Missense_Mutation_p.P403T|PTPRD_uc003zkm.2_Missense_Mutation_p.P390T|PTPRD_uc003zkn.2_Missense_Mutation_p.P403T|PTPRD_uc003zko.2_Missense_Mutation_p.P400T	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	403	Fibronectin type-III 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(10)|large_intestine(3)|ovary(2)|urinary_tract(1)	16		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)						1253	TSP Lung(15;0.13)			0.125	7.899854	19.975172	11	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	8518184	8518184	13256	9	G	T	T	T	546	42	PTPRD	2	2
DCAF12L2	340578	broad.mit.edu	37	X	125298905	125298905	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:125298905G>T	uc004euk.1	-	c.1003C>A	c.(1003-1005)CGC>AGC	p.R335S		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	335										lung(2)|large_intestine(1)|ovary(1)|pancreas(1)	5														0.053333	-7.592119	8.136383	4	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	125298905	125298905	4436	23	G	T	T	T	494	38	DCAF12L2	1	1
RAB33A	9363	broad.mit.edu	37	X	129306262	129306262	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:129306262A>C	uc004evl.2	+	c.226A>C	c.(226-228)AAG>CAG	p.K76Q	RAB33A_uc010nre.2_Non-coding_Transcript	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Ras-related protein Rab-33A	76					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding				0														0.082192	1.916282	14.861332	6	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129306262	129306262	13381	23	A	C	C	C	117	9	RAB33A	4	4
RAP2C	57826	broad.mit.edu	37	X	131351168	131351168	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:131351168C>A	uc004ewp.2	-	c.129G>T	c.(127-129)GAG>GAT	p.E43D	RAP2C_uc004ewo.2_5'UTR|RAP2C_uc010nrk.2_Non-coding_Transcript|RAP2C_uc004ewq.3_Missense_Mutation_p.E43D	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family precursor	43					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)													0.059322	-11.074344	12.922566	7	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	131351168	131351168	13502	23	C	A	A	A	415	32	RAP2C	2	2
CXorf66	347487	broad.mit.edu	37	X	139038398	139038398	+	Nonsense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:139038398G>T	uc004fbb.2	-	c.743C>A	c.(742-744)TCA>TAA	p.S248*		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	hypothetical protein LOC347487 precursor	248	Cytoplasmic (Potential).					integral to membrane					0														0.07	-4.954769	14.133881	7	93	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	139038398	139038398	4283	23	G	T	T	T	585	45	CXorf66	5	2
F8	2157	broad.mit.edu	37	X	154157832	154157832	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:154157832C>A	uc004fmt.2	-	c.4233G>T	c.(4231-4233)AAG>AAT	p.K1411N		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1411	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|oxidation-reduction process|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)					359				0.067485	-10.489947	21.147824	11	152	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	154157832	154157832	5544	23	C	A	A	A	311	24	F8	2	2
MAGEB4	4115	broad.mit.edu	37	X	30261234	30261234	+	Missense_Mutation	SNP	A	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:30261234A>G	uc004dcb.2	+	c.982A>G	c.(982-984)ACA>GCA	p.T328A	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	328										ovary(1)	1														0.136364	5.412119	8.226789	3	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30261234	30261234	9559	23	A	G	G	G	182	14	MAGEB4	4	4
FAM47B	170062	broad.mit.edu	37	X	34962649	34962649	+	Missense_Mutation	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:34962649G>T	uc004ddi.1	+	c.1701G>T	c.(1699-1701)TTG>TTT	p.L567F		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	567										ovary(3)|breast(1)	4														0.052885	-22.05	21.875599	11	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34962649	34962649	5791	23	G	T	T	T	581	45	FAM47B	2	2
CXorf22	170063	broad.mit.edu	37	X	35944189	35944189	+	Missense_Mutation	SNP	C	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:35944189C>G	uc004ddj.2	+	c.305C>G	c.(304-306)ACA>AGA	p.T102R	CXorf22_uc010ngv.2_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	102										large_intestine(1)|lung(1)|ovary(1)	3														0.152542	18.935299	25.751852	9	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35944189	35944189	4262	23	C	G	G	G	221	17	CXorf22	3	3
CCNB3	85417	broad.mit.edu	37	X	50053799	50053799	+	Missense_Mutation	SNP	A	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:50053799A>C	uc004dox.3	+	c.2630A>C	c.(2629-2631)CAC>CCC	p.H877P	CCNB3_uc004doy.2_Missense_Mutation_p.H877P|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	877					cell division|meiosis	nucleus				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)													0.088889	2.567796	10.248353	4	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50053799	50053799	3041	23	A	C	C	C	78	6	CCNB3	4	4
FAM123B	139285	broad.mit.edu	37	X	63411301	63411301	+	Missense_Mutation	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:63411301C>A	uc004dvo.2	-	c.1866G>T	c.(1864-1866)GAG>GAT	p.E622D		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	622					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|lung(2)|ovary(2)|liver(1)	110										85				0.09375	1.003689	6.311185	3	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63411301	63411301	5620	23	C	A	A	A	311	24	FAM123B	2	2
HEPH	9843	broad.mit.edu	37	X	65427988	65427988	+	Silent	SNP	C	A	A			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:65427988C>A	uc011moz.1	+	c.2472C>A	c.(2470-2472)ATC>ATA	p.I824I	HEPH_uc004dwn.2_Silent_p.I824I|HEPH_uc004dwo.2_Silent_p.I554I|HEPH_uc010nkr.2_Silent_p.I632I|HEPH_uc011mpa.1_Silent_p.I824I|HEPH_uc010nks.2_Silent_p.I113I	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	821	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|oxidation-reduction process|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9										386				0.133333	4.679702	8.595342	4	26	KEEP	---	---	---	---	capture		Silent	SNP	65427988	65427988	7337	23	C	A	A	A	382	30	HEPH	2	2
ARR3	407	broad.mit.edu	37	X	69500067	69500067	+	Missense_Mutation	SNP	G	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:69500067G>C	uc004dyb.2	+	c.928G>C	c.(928-930)GAG>CAG	p.E310Q	ARR3_uc004dya.2_Missense_Mutation_p.E310Q|RAB41_uc004dyc.2_5'Flank|RAB41_uc010nkv.2_5'Flank	NM_004312	NP_004303	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	310					signal transduction|visual perception	cytoplasm|soluble fraction				large_intestine(2)|ovary(2)	4														0.069149	-4.479015	31.581648	13	175	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69500067	69500067	997	23	G	C	C	C	429	33	ARR3	3	3
PGK1	5230	broad.mit.edu	37	X	77378447	77378447	+	Splice_Site_SNP	SNP	G	T	T			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:77378447G>T	uc004ecz.3	+	c.756_splice	c.e7+1	p.E252_splice	PGK1_uc010nlz.2_Splice_Site_SNP|PGK1_uc011mqq.1_Splice_Site_SNP_p.E224_splice	NM_000291	NP_000282			phosphoglycerate kinase 1						gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			ovary(1)	1														0.145299	29.328585	43.462287	17	100	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	77378447	77378447	12213	23	G	T	T	T	572	44	PGK1	5	2
PLXNC1	10154	broad.mit.edu	37	12	94543029	94543030	+	Frame_Shift_Ins	INS	-	C	C			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:94543029_94543030insC	uc001tdc.2	+	c.282_283insC	c.(280-285)GCGCCCfs	p.A94fs		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	94_95	Extracellular (Potential).|Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3														0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	94543029	94543030	12552	12	-	C	C	C	483	38	PLXNC1	5	5
C13orf33	84935	broad.mit.edu	37	13	31480851	31480852	+	Frame_Shift_Ins	INS	-	G	G			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:31480851_31480852insG	uc001uth.3	+	c.199_200insG	c.(199-201)CGGfs	p.R67fs		NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	67											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)										0.50			3	3		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	31480851	31480852	1774	13	-	G	G	G	347	27	C13orf33	5	5
FTCD	10841	broad.mit.edu	37	21	47571576	47571576	+	Frame_Shift_Del	DEL	C	-	-			TCGA-17-Z021-01	TCGA-17-Z021-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:47571576_47571576delC	uc002zif.2	-	c.532_532delG	c.(532-534)GCGfs	p.A178fs	FTCD_uc002zig.2_Frame_Shift_Del_p.A178fs|FTCD_uc002zih.2_Frame_Shift_Del_p.A178fs|FTCD_uc010gqf.2_Frame_Shift_Del_p.A178fs|FTCD_uc010gqg.1_Frame_Shift_Del_p.A47fs	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	178	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)	1	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)									0.33			2	4		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	47571576	47571576	6332	21	C	-	-	-	338	26	FTCD	5	5
