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
ABCC2	1244	broad.mit.edu	37	10	101606844	101606844	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:101606844G>T	uc001kqf.2	+	c.4273G>T	c.(4273-4275)GGG>TGG	p.G1425W		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	1425	Cytoplasmic (By similarity).|ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)									0.331776	199.455286	204.819569	71	143	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101606844	101606844	54	10	G	T	T	T	611	47	ABCC2	2	2
NEURL	9148	broad.mit.edu	37	10	105330758	105330758	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:105330758C>T	uc001kxh.2	+	c.215C>T	c.(214-216)TCC>TTC	p.S72F		NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	72	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)										0.287611	162.384275	171.52776	65	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105330758	105330758	10744	10	C	T	T	T	390	30	NEURL	2	2
ADAM12	8038	broad.mit.edu	37	10	127724718	127724718	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:127724718G>T	uc001ljk.2	-	c.2535C>A	c.(2533-2535)GCC>GCA	p.A845A	ADAM12_uc010qul.1_Silent_p.A796A	NM_003474	NP_003465	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12 isoform 1	845	Cytoplasmic (Potential).				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				0.222222	29.910224	34.38947	14	49	KEEP	---	---	---	---	capture		Silent	SNP	127724718	127724718	237	10	G	T	T	T	548	43	ADAM12	2	2
KNDC1	85442	broad.mit.edu	37	10	134997434	134997434	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:134997434G>A	uc001llz.1	+	c.566G>A	c.(565-567)CGG>CAG	p.R189Q	KNDC1_uc001lma.1_Missense_Mutation_p.R124Q	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	189	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					ovary(1)	1		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)										0.123711	29.808552	56.646389	24	170	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134997434	134997434	8740	10	G	A	A	A	507	39	KNDC1	1	1
ARMC3	219681	broad.mit.edu	37	10	23270392	23270392	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:23270392C>A	uc001irm.3	+	c.1040C>A	c.(1039-1041)TCA>TAA	p.S347*	ARMC3_uc010qcv.1_Nonsense_Mutation_p.S347*|ARMC3_uc010qcw.1_Nonsense_Mutation_p.S84*	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	347	ARM 9.						binding				0														0.311475	49.098349	51.031411	19	42	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	23270392	23270392	970	10	C	A	A	A	377	29	ARMC3	5	2
FBXO18	84893	broad.mit.edu	37	10	5955787	5955787	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:5955787C>T	uc001iit.2	+	c.1442C>T	c.(1441-1443)CCA>CTA	p.P481L	FBXO18_uc001iir.2_Missense_Mutation_p.P356L|FBXO18_uc001iis.2_Missense_Mutation_p.P430L|FBXO18_uc009xig.2_Missense_Mutation_p.P356L	NM_032807	NP_116196	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 1	430					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3														0.37931	89.04665	90.160883	33	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	5955787	5955787	5968	10	C	T	T	T	273	21	FBXO18	2	2
PSAP	5660	broad.mit.edu	37	10	73579275	73579275	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:73579275G>T	uc001jsm.2	-	c.1297C>A	c.(1297-1299)CTG>ATG	p.L433M	PSAP_uc001jsl.2_Missense_Mutation_p.L157M	NM_002778	NP_002769	P07602	SAP_HUMAN	prosaposin isoform a preproprotein	433	Saposin B-type 4.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1														0.263158	72.19247	77.980352	30	84	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73579275	73579275	13096	10	G	T	T	T	451	35	PSAP	2	2
USP54	159195	broad.mit.edu	37	10	75258547	75258547	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:75258547C>T	uc001juo.2	-	c.4895G>A	c.(4894-4896)CGA>CAA	p.R1632Q	PPP3CB_uc001juf.2_5'Flank|PPP3CB_uc001jue.2_5'Flank|PPP3CB_uc001jug.2_5'Flank|PPP3CB_uc001jui.2_5'Flank|PPP3CB_uc001juh.2_5'Flank|USP54_uc010qkk.1_Missense_Mutation_p.R767Q|USP54_uc001juk.2_Missense_Mutation_p.R720Q|USP54_uc001jul.2_Missense_Mutation_p.R673Q|USP54_uc001jum.2_Non-coding_Transcript|USP54_uc001jun.2_Non-coding_Transcript	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1632					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(1)|kidney(1)	2	Prostate(51;0.0112)					Colon(195;880 2046 8854 25025 38456)								0.113636	16.330091	35.76793	15	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75258547	75258547	17649	10	C	T	T	T	403	31	USP54	1	1
ITIH2	3698	broad.mit.edu	37	10	7759743	7759743	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:7759743C>T	uc001ijs.2	+	c.622C>T	c.(622-624)CAC>TAC	p.H208Y		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	208					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)	2														0.265385	155.054715	167.999373	69	191	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	7759743	7759743	8208	10	C	T	T	T	221	17	ITIH2	2	2
PLCE1	51196	broad.mit.edu	37	10	95791385	95791385	+	Silent	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:95791385C>T	uc001kjk.2	+	c.582C>T	c.(580-582)GAC>GAT	p.D194D	PLCE1_uc010qnx.1_Silent_p.D194D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	194					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|phospholipid metabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)												0.2	35.158984	42.250877	17	68	KEEP	---	---	---	---	capture		Silent	SNP	95791385	95791385	12460	10	C	T	T	T	220	17	PLCE1	2	2
TLL2	7093	broad.mit.edu	37	10	98273371	98273371	+	Silent	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98273371C>A	uc001kml.1	-	c.72G>T	c.(70-72)GGG>GGT	p.G24G	TLL2_uc009xvf.1_Silent_p.G24G	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	tolloid-like 2 precursor	24					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)										0.421053	40.48385	40.69243	16	22	KEEP	---	---	---	---	capture		Silent	SNP	98273371	98273371	16476	10	C	A	A	A	275	22	TLL2	2	2
PIK3AP1	118788	broad.mit.edu	37	10	98469537	98469537	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr10:98469537C>T	uc001kmq.2	-	c.217G>A	c.(217-219)GCG>ACG	p.A73T		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	73						cytoplasm|plasma membrane				ovary(1)	1		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)										0.373239	145.135444	147.140357	53	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	98469537	98469537	12332	10	C	T	T	T	351	27	PIK3AP1	1	1
DSCAML1	57453	broad.mit.edu	37	11	117395563	117395563	+	Silent	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:117395563G>A	uc001prh.1	-	c.1074C>T	c.(1072-1074)AAC>AAT	p.N358N	DSCAML1_uc001pri.1_Silent_p.N162N	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	298	Ig-like C2-type 3.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)	5	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)										0.16	5.982155	8.737023	4	21	KEEP	---	---	---	---	capture		Silent	SNP	117395563	117395563	4953	11	G	A	A	A	620	48	DSCAML1	2	2
TECTA	7007	broad.mit.edu	37	11	120996458	120996458	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:120996458G>A	uc010rzo.1	+	c.1651G>A	c.(1651-1653)GTG>ATG	p.V551M		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	551					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)										0.288809	200.6206	211.678352	80	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120996458	120996458	16274	11	G	A	A	A	520	40	TECTA	1	1
TEAD1	7003	broad.mit.edu	37	11	12901386	12901386	+	Silent	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:12901386G>A	uc001mkj.3	+	c.417G>A	c.(415-417)CCG>CCA	p.P139P	TEAD1_uc001mkk.3_Silent_p.P58P|TEAD1_uc009ygl.2_Silent_p.P33P	NM_021961	NP_068780	P28347	TEAD1_HUMAN	TEA domain family member 1	154	Pro-rich.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)										0.106918	17.26983	41.554077	17	142	KEEP	---	---	---	---	capture		Silent	SNP	12901386	12901386	16265	11	G	A	A	A	496	39	TEAD1	1	1
PLEKHA7	144100	broad.mit.edu	37	11	16838843	16838843	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:16838843C>A	uc010rcu.1	-	c.1370G>T	c.(1369-1371)CGC>CTC	p.R457L	PLEKHA7_uc001mmo.2_Missense_Mutation_p.R457L|PLEKHA7_uc010rcv.1_Missense_Mutation_p.R31L|PLEKHA7_uc001mmn.2_Missense_Mutation_p.R165L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	457					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(1)	1														0.213483	93.400771	106.863551	38	140	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16838843	16838843	12487	11	C	A	A	A	351	27	PLEKHA7	1	1
ABCC8	6833	broad.mit.edu	37	11	17449426	17449426	+	Missense_Mutation	SNP	G	A	A	rs72559724		TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:17449426G>A	uc001mnc.2	-	c.2104C>T	c.(2104-2106)CGT>TGT	p.R702C		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	702	ABC transporter 1.|Cytoplasmic (By similarity).				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)									0.183333	23.187677	28.836144	11	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17449426	17449426	59	11	G	A	A	A	481	37	ABCC8	1	1
NELL1	4745	broad.mit.edu	37	11	20982079	20982079	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:20982079G>A	uc009yid.2	+	c.1357G>A	c.(1357-1359)GTC>ATC	p.V453I	NELL1_uc001mqe.2_Missense_Mutation_p.V425I|NELL1_uc001mqf.2_Missense_Mutation_p.V425I|NELL1_uc010rdo.1_Missense_Mutation_p.V368I|NELL1_uc010rdp.1_Missense_Mutation_p.V185I	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	425	EGF-like 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3														0.267717	76.787482	82.981195	34	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20982079	20982079	10732	11	G	A	A	A	624	48	NELL1	2	2
FIBIN	387758	broad.mit.edu	37	11	27016285	27016285	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:27016285A>T	uc001mrd.2	+	c.212A>T	c.(211-213)CAG>CTG	p.Q71L		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog precursor	71						extracellular region|Golgi apparatus					0														0.36	47.934932	48.797727	18	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27016285	27016285	6123	11	A	T	T	T	91	7	FIBIN	3	3
OR51D1	390038	broad.mit.edu	37	11	4661752	4661752	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:4661752G>T	uc010qyk.1	+	c.732G>T	c.(730-732)CGG>CGT	p.R244R		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D,	244	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)										0.300926	159.874492	167.530934	65	151	KEEP	---	---	---	---	capture		Silent	SNP	4661752	4661752	11503	11	G	T	T	T	522	41	OR51D1	2	2
MS4A4A	51338	broad.mit.edu	37	11	60064740	60064740	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:60064740C>T	uc001noz.2	+	c.272C>T	c.(271-273)ACT>ATT	p.T91I	MS4A4A_uc001npa.2_Missense_Mutation_p.T72I|MS4A4A_uc001npb.2_Missense_Mutation_p.T72I|MS4A4A_uc001npc.2_Missense_Mutation_p.T72I	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member	91	Extracellular (Potential).					integral to membrane	receptor activity				0														0.25	34.948636	37.903577	13	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	60064740	60064740	10255	11	C	T	T	T	260	20	MS4A4A	2	2
TUT1	64852	broad.mit.edu	37	11	62346199	62346199	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:62346199C>T	uc001nto.2	-	c.1108G>A	c.(1108-1110)GAG>AAG	p.E370K	TUT1_uc001ntp.1_5'Flank	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	332					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2														0.142857	41.521481	63.89769	26	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62346199	62346199	17336	11	C	T	T	T	390	30	TUT1	2	2
SLC22A11	55867	broad.mit.edu	37	11	64331815	64331815	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:64331815A>T	uc001oai.2	+	c.857A>T	c.(856-858)AAG>ATG	p.K286M	SLC22A11_uc001oah.1_Intron|SLC22A11_uc001oaj.2_Missense_Mutation_p.K286M|SLC22A11_uc009ypq.2_Missense_Mutation_p.K286M|SLC22A11_uc001oak.1_Missense_Mutation_p.K115M	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	286	Cytoplasmic (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)									0.247619	58.975639	65.084358	26	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	64331815	64331815	14938	11	A	T	T	T	39	3	SLC22A11	3	3
EHBP1L1	254102	broad.mit.edu	37	11	65349621	65349621	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:65349621G>A	uc001oeo.3	+	c.1478G>A	c.(1477-1479)GGT>GAT	p.G493D	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	493										central_nervous_system(1)	1														0.21875	15.508382	17.84059	7	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65349621	65349621	5165	11	G	A	A	A	572	44	EHBP1L1	2	2
OR2AG1	144125	broad.mit.edu	37	11	6806427	6806428	+	Silent	DNP	CC	AA	AA			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:6806427_6806428CC>AA	uc001mer.1	+	c.159_160CC>AA	c.(157-162)GCCCGG>GCAAGG	p.53_54AR>AR		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	53_54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)										0.330544	214.761013	220.836689	79	160	KEEP	---	---	---	---	capture		Silent	DNP	6806427	6806428	11390	11	CC	AA	AA	AA	275	22	OR2AG1	2	2
MYEOV	26579	broad.mit.edu	37	11	69063518	69063518	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:69063518G>T	uc001oov.2	+	c.601G>T	c.(601-603)GTG>TTG	p.V201L	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.V201L|MYEOV_uc001oow.2_Missense_Mutation_p.V143L	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	201											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)										0.321739	210.966491	217.458859	74	156	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69063518	69063518	10420	11	G	T	T	T	624	48	MYEOV	2	2
PRKRIR	5612	broad.mit.edu	37	11	76063505	76063505	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:76063505C>A	uc001oxh.1	-	c.689G>T	c.(688-690)TGT>TTT	p.C230F	PRKRIR_uc010rrz.1_Missense_Mutation_p.C55F	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	230					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3														0.279412	49.465973	52.465214	19	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	76063505	76063505	12969	11	C	A	A	A	221	17	PRKRIR	2	2
FAT3	120114	broad.mit.edu	37	11	92087733	92087733	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92087733A>G	uc001pdj.3	+	c.2455A>G	c.(2455-2457)ATC>GTC	p.I819V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	819	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.333333	71.505994	73.20144	23	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92087733	92087733	5927	11	A	G	G	G	104	8	FAT3	4	4
FAT3	120114	broad.mit.edu	37	11	92498063	92498064	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr11:92498063_92498064GG>TT	uc001pdj.3	+	c.4003_4004GG>TT	c.(4003-4005)GGG>TTG	p.G1335L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1335	Cadherin 12.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)									TCGA Ovarian(4;0.039)			0.303571	44.74763	46.6798	17	39	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	92498063	92498064	5927	11	GG	TT	TT	TT	611	47	FAT3	2	2
GAS2L3	283431	broad.mit.edu	37	12	101005791	101005791	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:101005791G>C	uc001thu.2	+	c.317G>C	c.(316-318)AGA>ACA	p.R106T	GAS2L3_uc009zty.2_Missense_Mutation_p.R106T|GAS2L3_uc001thv.2_Missense_Mutation_p.R2T	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	106	CH.				cell cycle arrest						0														0.216495	59.61946	66.811978	21	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101005791	101005791	6512	12	G	C	C	C	429	33	GAS2L3	3	3
MYO1H	283446	broad.mit.edu	37	12	109841826	109841826	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:109841826G>T	uc010sxn.1	+	c.742G>T	c.(742-744)GAC>TAC	p.D248Y		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0														0.181818	11.827992	14.968645	6	27	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	109841826	109841826	10470	12	G	T	T	T	585	45	MYO1H	2	2
MYL2	4633	broad.mit.edu	37	12	111356969	111356969	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:111356969C>A	uc001try.3	-	c.32G>T	c.(31-33)GGG>GTG	p.G11V	MYL2_uc001trx.3_5'UTR	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	11					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|motor activity|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						GBM(14;268 426 18829 21617 25540)								0.196078	20.229664	24.614116	10	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111356969	111356969	10442	12	C	A	A	A	286	22	MYL2	2	2
MED13L	23389	broad.mit.edu	37	12	116401214	116401214	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:116401214T>A	uc001tvw.2	-	c.6498A>T	c.(6496-6498)TTA>TTT	p.L2166F		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2166					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		RNA polymerase II transcription mediator activity			skin(3)|ovary(1)|lung(1)	5	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)						497				0.318841	53.810522	55.831687	22	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	116401214	116401214	9820	12	T	A	A	A	790	61	MED13L	3	3
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:25398285C>A	uc001rgp.1	-	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(2374)|p.G12S(1078)|p.G12R(674)|p.G12?(50)|p.G12F(33)|p.G12D(15)|p.G12N(6)|p.G12V(6)|p.G12L(5)|p.G12I(3)|p.G12W(3)|p.G12A(2)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12_G13insG(1)		large_intestine(11742)|pancreas(3256)|lung(2694)|biliary_tract(514)|ovary(437)|endometrium(339)|haematopoietic_and_lymphoid_tissue(303)|stomach(179)|thyroid(145)|prostate(85)|soft_tissue(75)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|breast(27)|liver(21)|testis(17)|oesophagus(15)|central_nervous_system(8)|peritoneum(5)|kidney(5)|salivary_gland(5)|thymus(5)|eye(4)|gastrointestinal_tract_(site_indeterminate)(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	20148	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	p.G12R(PSN1-Tumor)|p.G12C(NCIH1373-Tumor)|p.G12C(NCIH1792-Tumor)|p.G12S(KMS20-Tumor)|p.G12C(HCC44-Tumor)|p.G12C(HCC1171-Tumor)|p.G12C(SW837-Tumor)|p.G12C(LU65-Tumor)|p.G12R(HUPT3-Tumor)|p.G12S(A549-Tumor)|p.G12C(NCIH2122-Tumor)|p.G12R(KP2-Tumor)|p.G12C(OV56-Tumor)|p.G12C(IALM-Tumor)|p.G12C(SW1463-Tumor)|p.G12C(SW1573-Tumor)|p.G12R(NCIH1339-Tumor)|p.G12C(NCIH23-Tumor)|p.G12C(MIAPACA2-Tumor)|p.G12C(CALU1-Tumor)|p.G12C(NCIH2030-Tumor)|p.G12S(LS123-Tumor)|p.G12C(KYSE410-Tumor)|p.G12C(UMUC3-Tumor)|p.G12C(NCIH2291-Tumor)|p.G12R(TCCPAN2-Tumor)|p.G12C(KHM1B-Tumor)|p.G12C(LU99-Tumor)|p.G12C(NCIH358-Tumor)|p.G12C(NCIH1385-Tumor)|p.G12R(CAL62-Tumor)	262	TSP Lung(1;<1E-8)|Multiple Myeloma(2;<1E-6)			0.333333	17.343557	17.78659	6	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	25398285	25398285	8753	12	C	A	A	A	273	21	KRAS	2	2
DDX11	1663	broad.mit.edu	37	12	31249591	31249592	+	Missense_Mutation	DNP	GT	TA	TA			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:31249591_31249592GT>TA	uc001rjt.1	+	c.1542_1543GT>TA	c.(1540-1545)CGGTAC>CGTAAC	p.Y515N	DDX11_uc001rjr.1_Missense_Mutation_p.Y515N|DDX11_uc001rjs.1_Missense_Mutation_p.Y515N|DDX11_uc001rju.1_Missense_Mutation_p.Y193N|DDX11_uc001rjv.1_Missense_Mutation_p.Y515N|DDX11_uc001rjw.1_Missense_Mutation_p.Y489N|DDX11_uc009zjn.1_Non-coding_Transcript	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	515					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)										Multiple Myeloma(12;0.14)			0.21875	44.280082	51.239054	21	75	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	31249591	31249592	4514	12	GT	TA	TA	TA	561	44	DDX11	2	2
ARID2	196528	broad.mit.edu	37	12	46245320	46245320	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:46245320G>T	uc001ros.1	+	c.3414G>T	c.(3412-3414)GGG>GGT	p.G1138G	ARID2_uc001ror.2_Silent_p.G1138G|ARID2_uc009zkg.1_Silent_p.G594G|ARID2_uc009zkh.1_Silent_p.G765G|ARID2_uc001rou.1_Silent_p.G472G	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1138					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(1)	7	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)										0.275168	102.60338	109.39131	41	108	KEEP	---	---	---	---	capture		Silent	SNP	46245320	46245320	930	12	G	T	T	T	548	43	ARID2	2	2
MLL2	8085	broad.mit.edu	37	12	49422684	49422684	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:49422684G>A	uc001rta.3	-	c.14309C>T	c.(14308-14310)CCT>CTT	p.P4770L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4770					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of gene-specific transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|promoter binding|protein binding|zinc ion binding			kidney(16)|lung(4)|skin(4)|ovary(3)|pancreas(2)	29														0.271293	239.709728	254.661639	86	231	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49422684	49422684	10011	12	G	A	A	A	455	35	MLL2	2	2
DIP2B	57609	broad.mit.edu	37	12	51065097	51065097	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:51065097T>G	uc001rwv.2	+	c.556T>G	c.(556-558)TCA>GCA	p.S186A	DIP2B_uc001rwu.2_Missense_Mutation_p.S186A|DIP2B_uc009zls.1_Missense_Mutation_p.S68A	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	186	Ser-rich.					nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6														0.310924	119.192891	123.005646	37	82	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51065097	51065097	4707	12	T	G	G	G	806	62	DIP2B	4	4
CCT2	10576	broad.mit.edu	37	12	69983267	69983267	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:69983267C>T	uc001svb.1	+	c.449C>T	c.(448-450)TCC>TTC	p.S150F	CCT2_uc009zrm.1_Non-coding_Transcript|CCT2_uc009zrn.1_Missense_Mutation_p.S150F|CCT2_uc010stl.1_Missense_Mutation_p.S103F	NM_006431	NP_006422	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2	150					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)											0.113636	5.540618	12.022164	5	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	69983267	69983267	3080	12	C	T	T	T	390	30	CCT2	2	2
LGR5	8549	broad.mit.edu	37	12	71978333	71978333	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:71978333G>T	uc001swl.2	+	c.2543G>T	c.(2542-2544)AGC>ATC	p.S848I	LGR5_uc001swm.2_Missense_Mutation_p.S824I|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	848	Cytoplasmic (Potential).					integral to plasma membrane	protein-hormone receptor activity			ovary(1)|pancreas(1)	2										516				0.243243	83.316944	92.21835	36	112	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71978333	71978333	9083	12	G	T	T	T	442	34	LGR5	2	2
KCNC2	3747	broad.mit.edu	37	12	75442064	75442064	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:75442064G>A	uc001sxg.1	-	c.1649C>T	c.(1648-1650)CCG>CTG	p.P550L	KCNC2_uc009zry.2_Missense_Mutation_p.P550L|KCNC2_uc001sxe.2_Missense_Mutation_p.P550L|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	550	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P550L(1)		breast(2)|pancreas(2)|skin(1)|lung(1)	6														0.166667	17.840156	23.529607	9	45	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75442064	75442064	8320	12	G	A	A	A	507	39	KCNC2	1	1
MYF6	4618	broad.mit.edu	37	12	81101854	81101854	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:81101854G>A	uc001szf.1	+	c.356G>A	c.(355-357)CGA>CAA	p.R119Q		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	119	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulator activity			central_nervous_system(1)	1														0.262774	86.846516	93.817492	36	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81101854	81101854	10423	12	G	A	A	A	481	37	MYF6	1	1
HAL	3034	broad.mit.edu	37	12	96374622	96374622	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:96374622C>A	uc001tem.1	-	c.1307G>T	c.(1306-1308)GGA>GTA	p.G436V	HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.G228V|HAL_uc010sux.1_Missense_Mutation_p.G436V	NM_002108	NP_002099	P42357	HUTH_HUMAN	histidine ammonia-lyase	436					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			ovary(2)	2					L-Histidine(DB00117)	NSCLC(169;943 2815 23563 30031)								0.245033	82.324556	91.253082	37	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	96374622	96374622	7229	12	C	A	A	A	390	30	HAL	2	2
NALCN	259232	broad.mit.edu	37	13	101755543	101755543	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:101755543C>A	uc001vox.1	-	c.3037G>T	c.(3037-3039)GGC>TGC	p.G1013C		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1013	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.260274	101.980726	109.578959	38	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	101755543	101755543	10544	13	C	A	A	A	299	23	NALCN	1	1
ATP8A2	51761	broad.mit.edu	37	13	26148945	26148945	+	Splice_Site_SNP	SNP	G	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:26148945G>C	uc001uqk.2	+	c.1663_splice	c.e19-1	p.M555_splice	ATP8A2_uc010tdi.1_Splice_Site_SNP_p.M515_splice|ATP8A2_uc010tdj.1_Splice_Site_SNP|ATP8A2_uc010aaj.1_Splice_Site_SNP_p.M65_splice	NM_016529	NP_057613			ATPase, aminophospholipid transporter-like,						ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)	3		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)										0.349206	77.331656	78.595556	22	41	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	26148945	26148945	1212	13	G	C	C	C	429	33	ATP8A2	5	3
POSTN	10631	broad.mit.edu	37	13	38172804	38172804	+	Silent	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:38172804G>A	uc001uwo.3	-	c.60C>T	c.(58-60)AAC>AAT	p.N20N	POSTN_uc001uwp.3_Silent_p.N20N|POSTN_uc001uwr.2_Silent_p.N20N|POSTN_uc001uwq.2_Silent_p.N20N|POSTN_uc010teu.1_Silent_p.N20N|POSTN_uc010tev.1_Silent_p.N20N|POSTN_uc010tew.1_Silent_p.N20N|POSTN_uc010tex.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	20					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)										0.131148	10.760454	18.82739	8	53	KEEP	---	---	---	---	capture		Silent	SNP	38172804	38172804	12688	13	G	A	A	A	516	40	POSTN	1	1
TNFSF11	8600	broad.mit.edu	37	13	43181007	43181007	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:43181007C>T	uc001uyu.2	+	c.907C>T	c.(907-909)CAG>TAG	p.Q303*	TNFSF11_uc001uyt.2_Nonsense_Mutation_p.Q230*	NM_003701	NP_003692	O14788	TNF11_HUMAN	tumor necrosis factor ligand superfamily, member	303	Extracellular (Potential).				immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation|tumor necrosis factor-mediated signaling pathway	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding				0		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)						113				0.324503	129.007376	133.14294	49	102	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	43181007	43181007	16843	13	C	T	T	T	377	29	TNFSF11	5	2
DIAPH3	81624	broad.mit.edu	37	13	60582753	60582753	+	Silent	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:60582753T>A	uc001vht.2	-	c.939A>T	c.(937-939)TCA>TCT	p.S313S	DIAPH3_uc001vhu.2_Silent_p.S50S|DIAPH3_uc001vhw.1_Silent_p.S302S|DIAPH3_uc010aed.1_Silent_p.S267S|DIAPH3_uc010aee.1_Silent_p.S243S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	313	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)										0.125	25.177247	43.863292	17	119	KEEP	---	---	---	---	capture		Silent	SNP	60582753	60582753	4699	13	T	A	A	A	704	55	DIAPH3	3	3
KLHL1	57626	broad.mit.edu	37	13	70413137	70413137	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:70413137T>C	uc001vip.2	-	c.1385A>G	c.(1384-1386)TAT>TGT	p.Y462C	KLHL1_uc010thm.1_Missense_Mutation_p.Y401C	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	462	Kelch 1.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)										0.363636	14.197767	14.377432	4	7	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	70413137	70413137	8677	13	T	C	C	C	637	49	KLHL1	4	4
SLITRK1	114798	broad.mit.edu	37	13	84454289	84454289	+	Silent	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:84454289G>A	uc001vlk.2	-	c.1354C>T	c.(1354-1356)CTG>TTG	p.L452L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	452	Extracellular (Potential).|LRR 10.					integral to membrane				ovary(2)|central_nervous_system(1)	3	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)										0.279793	143.051701	151.558353	54	139	KEEP	---	---	---	---	capture		Silent	SNP	84454289	84454289	15240	13	G	A	A	A	451	35	SLITRK1	2	2
SLITRK5	26050	broad.mit.edu	37	13	88330366	88330366	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:88330366A>G	uc001vln.2	+	c.2723A>G	c.(2722-2724)GAC>GGC	p.D908G	SLITRK5_uc010tic.1_Missense_Mutation_p.D667G	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	908	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)													0.137457	77.015851	114.043082	40	251	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	88330366	88330366	15244	13	A	G	G	G	130	10	SLITRK5	4	4
GPC6	10082	broad.mit.edu	37	13	94482405	94482405	+	Splice_Site_SNP	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:94482405A>T	uc001vlt.2	+	c.320_splice	c.e3-2	p.E107_splice	GPC6_uc010tig.1_Splice_Site_SNP_p.E107_splice|GPC6_uc001vlu.1_Splice_Site_SNP_p.E37_splice	NM_005708	NP_005699			glypican 6 precursor							anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding				0	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)												0.328125	65.355761	67.030841	21	43	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	94482405	94482405	6876	13	A	T	T	T	91	7	GPC6	5	3
RNASE11	122651	broad.mit.edu	37	14	21052268	21052268	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:21052268G>T	uc010ahv.2	-	c.366C>A	c.(364-366)CGC>CGA	p.R122R	RNASE11_uc010ahx.2_Silent_p.R122R|RNASE11_uc010ahw.2_Silent_p.R122R|RNASE11_uc001vxs.2_Silent_p.R122R	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	122						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(3)	3	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)										0.271605	56.71078	60.522936	22	59	KEEP	---	---	---	---	capture		Silent	SNP	21052268	21052268	13878	14	G	T	T	T	587	46	RNASE11	2	2
CMTM5	116173	broad.mit.edu	37	14	23847613	23847613	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:23847613C>A	uc010akm.2	+	c.182C>A	c.(181-183)GCC>GAC	p.A61D	CMTM5_uc001wjs.2_Missense_Mutation_p.A61D|CMTM5_uc001wjt.2_Missense_Mutation_p.A61D|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	chemokine-like factor superfamily 5 isoform a	61	Helical; (Potential).|MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity				0	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)										0.374429	228.260202	231.304556	82	137	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23847613	23847613	3724	14	C	A	A	A	338	26	CMTM5	2	2
FAM158A	51016	broad.mit.edu	37	14	24610337	24610337	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24610337C>G	uc001wmi.2	-	c.177G>C	c.(175-177)ATG>ATC	p.M59I		NM_016049	NP_057133	Q9Y3B6	F158A_HUMAN	hypothetical protein LOC51016	59											0												OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.246637	169.41922	182.445132	55	168	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	24610337	24610337	5669	14	C	G	G	G	221	17	FAM158A	3	3
TSSK4	283629	broad.mit.edu	37	14	24676508	24676508	+	Nonsense_Mutation	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:24676508T>A	uc001wnh.2	+	c.627T>A	c.(625-627)TGT>TGA	p.C209*	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.2_Nonsense_Mutation_p.C123*|TSSK4_uc001wnf.2_Nonsense_Mutation_p.C129*|TSSK4_uc001wng.2_Nonsense_Mutation_p.C199*	NM_174944	NP_777604	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	199	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|protein phosphorylation|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity				0				GBM - Glioblastoma multiforme(265;0.018)						41				0.327759	286.66286	294.521313	98	201	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24676508	24676508	17224	14	T	A	A	A	764	59	TSSK4	5	3
STRN3	29966	broad.mit.edu	37	14	31374709	31374709	+	Silent	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:31374709T>A	uc001wqu.2	-	c.1944A>T	c.(1942-1944)GTA>GTT	p.V648V	STRN3_uc001wqv.2_Silent_p.V564V|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	nuclear autoantigen isoform 1	648					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription repressor activity				0	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)										0.16	6.384871	9.136826	4	21	KEEP	---	---	---	---	capture		Silent	SNP	31374709	31374709	15850	14	T	A	A	A	782	61	STRN3	3	3
MDGA2	161357	broad.mit.edu	37	14	47504503	47504503	+	Silent	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:47504503T>A	uc001wwj.3	-	c.1323A>T	c.(1321-1323)CCA>CCT	p.P441P	MDGA2_uc001wwi.3_Silent_p.P212P|MDGA2_uc010ani.2_Intron	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	441					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5														0.352941	73.395924	74.685441	24	44	KEEP	---	---	---	---	capture		Silent	SNP	47504503	47504503	9796	14	T	A	A	A	756	59	MDGA2	3	3
SAV1	60485	broad.mit.edu	37	14	51131974	51131974	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:51131974T>C	uc001wyg.1	-	c.458A>G	c.(457-459)CAT>CGT	p.H153R	SAV1_uc001wyh.1_Missense_Mutation_p.H153R	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	WW45 protein	153					hippo signaling cascade	cytoplasm|nucleus	identical protein binding				0	all_epithelial(31;0.000611)|Breast(41;0.0333)													0.298246	44.202712	46.311122	17	40	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51131974	51131974	14337	14	T	C	C	C	663	51	SAV1	4	4
SPTB	6710	broad.mit.edu	37	14	65216089	65216089	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65216089G>T	uc001xhr.2	-	c.6922C>A	c.(6922-6924)CCC>ACC	p.P2308T	SPTB_uc001xhs.2_Missense_Mutation_p.P2308T|SPTB_uc010aqi.2_Missense_Mutation_p.P1004T	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	Error:Variant_position_missing_in_P11277_after_alignment					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|lung(1)|central_nervous_system(1)	9		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)										0.470588	21.897514	21.910332	8	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	65216089	65216089	15632	14	G	T	T	T	559	43	SPTB	2	2
ZFP36L1	677	broad.mit.edu	37	14	69256990	69256990	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:69256990C>A	uc001xkh.1	-	c.277G>T	c.(277-279)GAA>TAA	p.E93*	ZFP36L1_uc001xki.1_Nonsense_Mutation_p.E93*	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	93					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)								OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.22449	23.397485	26.818005	11	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	69256990	69256990	18234	14	C	A	A	A	390	30	ZFP36L1	5	2
PCNX	22990	broad.mit.edu	37	14	71514586	71514586	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:71514586C>G	uc001xmo.2	+	c.4223C>G	c.(4222-4224)CCT>CGT	p.P1408R	PCNX_uc010are.1_Missense_Mutation_p.P1297R|PCNX_uc010arf.1_Missense_Mutation_p.P268R	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1408						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)										0.238095	39.690682	43.640155	15	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71514586	71514586	12011	14	C	G	G	G	312	24	PCNX	3	3
NEK9	91754	broad.mit.edu	37	14	75573382	75573382	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:75573382C>A	uc001xrl.2	-	c.1351G>T	c.(1351-1353)GGA>TGA	p.G451*	NEK9_uc001xrk.2_5'UTR	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	451	RCC1 2.				cell division|mitosis|protein phosphorylation	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00718)						359				0.298246	50.953302	53.026785	17	40	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	75573382	75573382	10730	14	C	A	A	A	299	23	NEK9	5	1
CCDC88C	440193	broad.mit.edu	37	14	91779574	91779574	+	Silent	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:91779574C>G	uc010aty.2	-	c.2586G>C	c.(2584-2586)CTG>CTC	p.L862L		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	862	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)												0.153374	57.276497	75.998315	25	138	KEEP	---	---	---	---	capture		Silent	SNP	91779574	91779574	2990	14	C	G	G	G	210	17	CCDC88C	3	3
KIAA1409	57578	broad.mit.edu	37	14	94088409	94088409	+	Silent	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:94088409A>G	uc001ybv.1	+	c.4365A>G	c.(4363-4365)CTA>CTG	p.L1455L	KIAA1409_uc001ybs.1_Silent_p.L1433L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1610						integral to membrane				ovary(10)|large_intestine(3)	13		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)						1186				0.337931	166.341339	169.704158	49	96	KEEP	---	---	---	---	capture		Silent	SNP	94088409	94088409	8539	14	A	G	G	G	197	16	KIAA1409	4	4
ASB7	140460	broad.mit.edu	37	15	101170138	101170138	+	Silent	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:101170138C>T	uc002bwk.2	+	c.708C>T	c.(706-708)TAC>TAT	p.Y236Y	ASB7_uc002bwj.2_Silent_p.Y236Y	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	236	ANK 7.				intracellular signal transduction						0	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)											0.156863	27.833852	39.294836	16	86	KEEP	---	---	---	---	capture		Silent	SNP	101170138	101170138	1046	15	C	T	T	T	246	19	ASB7	1	1
OR4F15	390649	broad.mit.edu	37	15	102358761	102358761	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:102358761G>A	uc010uts.1	+	c.372G>A	c.(370-372)ATG>ATA	p.M124I		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)											0.132231	22.708327	38.615249	16	105	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	102358761	102358761	11468	15	G	A	A	A	611	47	OR4F15	2	2
MKRN3	7681	broad.mit.edu	37	15	23811308	23811308	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:23811308G>T	uc001ywh.3	+	c.379G>T	c.(379-381)GCC>TCC	p.A127S	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.A127S	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	127						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(2)	4		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)						79				0.355556	128.540899	131.031333	48	87	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	23811308	23811308	9998	15	G	T	T	T	546	42	MKRN3	2	2
HERC2	8924	broad.mit.edu	37	15	28414753	28414754	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:28414753_28414754CC>AA	uc001zbj.2	-	c.10105_10106GG>TT	c.(10105-10107)GGT>TTT	p.G3369F		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3369					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of mitotic metaphase/anaphase transition	anaphase-promoting complex	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(2)|central_nervous_system(1)	11		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)						1580				0.196581	54.655292	64.692396	23	94	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	28414753	28414754	7341	15	CC	AA	AA	AA	234	18	HERC2	2	2
TJP1	7082	broad.mit.edu	37	15	30010701	30010701	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:30010701C>A	uc010azl.2	-	c.3609G>T	c.(3607-3609)GAG>GAT	p.E1203D	TJP1_uc001zcq.2_Missense_Mutation_p.E1139D|TJP1_uc001zcr.2_Missense_Mutation_p.E1215D|TJP1_uc001zcs.2_Missense_Mutation_p.E1135D	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	1215					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|pancreas(1)	5		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		Melanoma(77;681 1843 6309 6570)								0.1625	21.574155	30.333615	13	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30010701	30010701	16458	15	C	A	A	A	363	28	TJP1	2	2
CEP152	22995	broad.mit.edu	37	15	49030868	49030868	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:49030868A>G	uc001zwz.2	-	c.4711T>C	c.(4711-4713)TGC>CGC	p.C1571R	CEP152_uc001zwy.2_Missense_Mutation_p.C1515R	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	1515					G2/M transition of mitotic cell cycle	cytosol|microtubule organizing center				lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)										0.189189	17.203192	20.54669	7	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49030868	49030868	3381	15	A	G	G	G	91	7	CEP152	4	4
COPS2	9318	broad.mit.edu	37	15	49431825	49431825	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:49431825C>G	uc001zxh.2	-	c.272G>C	c.(271-273)AGA>ACA	p.R91T	COPS2_uc001zxf.2_Missense_Mutation_p.R91T|COPS2_uc010ufa.1_Missense_Mutation_p.R27T	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	91					transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)								0.153846	24.605836	32.052617	10	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49431825	49431825	3871	15	C	G	G	G	416	32	COPS2	3	3
SLTM	79811	broad.mit.edu	37	15	59191867	59191867	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:59191867C>A	uc002afp.2	-	c.859G>T	c.(859-861)GCA>TCA	p.A287S	SLTM_uc002afo.2_Missense_Mutation_p.A269S|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.A186S	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	287					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1														0.097087	5.886211	22.62706	10	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	59191867	59191867	15252	15	C	A	A	A	325	25	SLTM	2	2
SYNM	23336	broad.mit.edu	37	15	99673193	99673193	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr15:99673193C>T	uc002bup.2	+	c.4628C>T	c.(4627-4629)TCA>TTA	p.S1543L	SYNM_uc002buo.2_Missense_Mutation_p.S1231L|SYNM_uc002buq.2_Non-coding_Transcript	NM_145728	NP_663780	O15061	SYNEM_HUMAN	desmuslin isoform A	1543	Tail.|Interaction with DMD and UTRN.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			ovary(3)|central_nervous_system(1)	4						Pancreas(125;1071 1762 21750 40003 40381)								0.133333	6.715332	12.592867	6	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99673193	99673193	15976	15	C	T	T	T	377	29	SYNM	2	2
CACNA1H	8912	broad.mit.edu	37	16	1250434	1250434	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:1250434G>A	uc002cks.2	+	c.982G>A	c.(982-984)GAG>AAG	p.E328K	CACNA1H_uc002ckt.2_Missense_Mutation_p.E328K	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	328	Extracellular (Potential).|I.				axon guidance|muscle contraction|muscle organ development|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)									0.314286	24.275166	25.371625	11	24	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1250434	1250434	2661	16	G	A	A	A	481	37	CACNA1H	1	1
MYH11	4629	broad.mit.edu	37	16	15820896	15820896	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:15820896C>T	uc002ddx.2	-	c.3688G>A	c.(3688-3690)GAC>AAC	p.D1230N	MYH11_uc002ddv.2_Missense_Mutation_p.D1230N|MYH11_uc002ddw.2_Missense_Mutation_p.D1223N|MYH11_uc002ddy.2_Missense_Mutation_p.D1223N|MYH11_uc010bvg.2_Missense_Mutation_p.D1055N|MYH11_uc010bvh.2_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1223	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(4)|skin(2)|lung(1)	7										1257				0.123711	99.560333	180.189534	72	510	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15820896	15820896	10426	16	C	T	T	T	416	32	MYH11	2	2
ZNF646	9726	broad.mit.edu	37	16	31092791	31092791	+	Silent	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31092791C>T	uc002eap.2	+	c.5146C>T	c.(5146-5148)CTG>TTG	p.L1716L		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1716	C2H2-type 29.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2														0.116915	58.317501	116.387397	47	355	KEEP	---	---	---	---	capture		Silent	SNP	31092791	31092791	18657	16	C	T	T	T	311	24	ZNF646	2	2
ZNF646	9726	broad.mit.edu	37	16	31092914	31092914	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31092914C>T	uc002eap.2	+	c.5269C>T	c.(5269-5271)CGG>TGG	p.R1757W		NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	1757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2														0.135714	27.148769	45.133859	19	121	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31092914	31092914	18657	16	C	T	T	T	295	23	ZNF646	1	1
PRSS36	146547	broad.mit.edu	37	16	31154786	31154786	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31154786C>A	uc002ebd.2	-	c.977G>T	c.(976-978)GGG>GTG	p.G326V	PRSS36_uc010vff.1_Missense_Mutation_p.G101V|PRSS36_uc010vfg.1_Missense_Mutation_p.G326V|PRSS36_uc010vfh.1_Missense_Mutation_p.G326V	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	326	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1														0.329412	148.535748	152.924407	56	114	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31154786	31154786	13075	16	C	A	A	A	286	22	PRSS36	2	2
ARMC5	79798	broad.mit.edu	37	16	31476156	31476156	+	Silent	SNP	T	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:31476156T>C	uc010vfn.1	+	c.2097T>C	c.(2095-2097)GAT>GAC	p.D699D	ARMC5_uc010vfo.1_Silent_p.D636D|ARMC5_uc002ecc.2_Silent_p.D604D|ARMC5_uc002eca.3_Silent_p.D604D|ARMC5_uc010vfp.1_Silent_p.D412D|ARMC5_uc002ecb.2_Silent_p.D604D	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	604							binding			pancreas(1)	1														0.444444	27.298988	27.347184	8	10	KEEP	---	---	---	---	capture		Silent	SNP	31476156	31476156	972	16	T	C	C	C	673	52	ARMC5	4	4
ZNF19	7567	broad.mit.edu	37	16	71512893	71512893	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:71512893C>G	uc010cgc.1	-	c.49G>C	c.(49-51)GAG>CAG	p.E17Q	ZNF23_uc002fai.2_5'UTR|ZNF19_uc002fak.1_Missense_Mutation_p.E5Q|ZNF19_uc002fal.1_Missense_Mutation_p.E5Q|ZNF19_uc002fam.1_Missense_Mutation_p.E17Q	NM_006961	NP_008892	P17023	ZNF19_HUMAN	zinc finger protein 19	17	KRAB.				regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)										0.122807	38.077834	61.865078	21	150	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	71512893	71512893	18346	16	C	G	G	G	403	31	ZNF19	3	3
BCMO1	53630	broad.mit.edu	37	16	81320986	81320986	+	Silent	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81320986G>A	uc002fgn.1	+	c.1389G>A	c.(1387-1389)GCG>GCA	p.A463A	BCMO1_uc010vnp.1_Silent_p.A394A	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	463					oxidation-reduction process|retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding				0														0.36646	151.776548	154.302542	59	102	KEEP	---	---	---	---	capture		Silent	SNP	81320986	81320986	1405	16	G	A	A	A	483	38	BCMO1	1	1
GAN	8139	broad.mit.edu	37	16	81388292	81388292	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:81388292G>T	uc002fgo.2	+	c.565G>T	c.(565-567)GTT>TTT	p.V189F		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	189	BACK.				cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)				GBM(106;1239 1507 7582 9741 33976)								0.568493	281.244003	281.840929	83	63	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	81388292	81388292	6496	16	G	T	T	T	520	40	GAN	1	1
MYH1	4619	broad.mit.edu	37	17	10403991	10403991	+	Silent	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10403991G>A	uc002gmo.2	-	c.3817C>T	c.(3817-3819)CTG>TTG	p.L1273L		NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1273	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				0.318681	82.339457	85.000272	29	62	KEEP	---	---	---	---	capture		Silent	SNP	10403991	10403991	10424	17	G	A	A	A	438	34	MYH1	2	2
C17orf48	56985	broad.mit.edu	37	17	10608454	10608454	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:10608454C>T	uc002gmt.2	+	c.211C>T	c.(211-213)CAG>TAG	p.Q71*	C17orf48_uc002gmu.2_Non-coding_Transcript|C17orf48_uc002gmv.2_Non-coding_Transcript|C17orf48_uc010vvg.1_Nonsense_Mutation_p.Q71*	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol pyrophosphatase	71							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0														0.339806	92.304371	94.63574	35	68	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10608454	10608454	1915	17	C	T	T	T	377	29	C17orf48	5	2
ZNF286A	57335	broad.mit.edu	37	17	15620368	15620368	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:15620368G>T	uc010cot.2	+	c.1330G>T	c.(1330-1332)GGG>TGG	p.G444W	ZNF286A_uc002goz.3_Missense_Mutation_p.G332W|ZNF286A_uc010vwa.1_Missense_Mutation_p.G444W|ZNF286A_uc002gpa.2_Missense_Mutation_p.G444W	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN	zinc finger protein 286	444	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)										0.209302	20.449126	23.814242	9	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15620368	15620368	18415	17	G	T	T	T	611	47	ZNF286A	2	2
MYO15A	51168	broad.mit.edu	37	17	18023558	18023558	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:18023558C>T	uc010vxh.1	+	c.1444C>T	c.(1444-1446)CGA>TGA	p.R482*		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	482	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	6	all_neural(463;0.228)													0.386667	81.154701	81.999841	29	46	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	18023558	18023558	10458	17	C	T	T	T	347	27	MYO15A	5	1
CYTSB	92521	broad.mit.edu	37	17	20217341	20217341	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:20217341A>T	uc002gwq.2	+	c.3170A>T	c.(3169-3171)CAG>CTG	p.Q1057L	CYTSB_uc002gws.2_Missense_Mutation_p.Q1057L|CYTSB_uc002gwv.2_Missense_Mutation_p.Q976L|CYTSB_uc010vzf.1_Missense_Mutation_p.Q397L|CYTSB_uc002gww.2_Missense_Mutation_p.Q794L	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	1057	CH.					nucleus					0														0.377778	49.065492	49.65477	17	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	20217341	20217341	4375	17	A	T	T	T	91	7	CYTSB	3	3
SUPT6H	6830	broad.mit.edu	37	17	27011938	27011938	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:27011938A>T	uc002hby.2	+	c.2446A>T	c.(2446-2448)AAA>TAA	p.K816*	SUPT6H_uc010crt.2_Nonsense_Mutation_p.K816*	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	816					chromatin remodeling|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity|transcription elongation regulator activity			ovary(2)	2	Lung NSC(42;0.00431)													0.489583	131.008774	131.018079	47	49	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	27011938	27011938	15920	17	A	T	T	T	65	5	SUPT6H	5	3
FNDC8	54752	broad.mit.edu	37	17	33448781	33448781	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:33448781C>A	uc002hix.2	+	c.69C>A	c.(67-69)AAC>AAA	p.N23K	RFFL_uc002hiq.2_5'Flank|RAD51L3_uc002hir.2_5'Flank|RAD51L3_uc010wcd.1_5'Flank|RAD51L3_uc002his.2_5'Flank|RAD51L3_uc010ctk.2_5'Flank|RAD51L3_uc010wce.1_5'Flank|RAD51L3_uc002hit.2_5'Flank|RAD51L3_uc002hiu.2_5'Flank|RAD51L3_uc010wcf.1_5'Flank|RAD51L3_uc002hiw.1_5'Flank|RAD51L3_uc002hiv.1_5'Flank|RAD51L3_uc010ctl.1_5'Flank|RAD51L3_uc010ctm.1_5'Flank	NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	23										ovary(2)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)										0.101695	15.712892	43.722865	18	159	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33448781	33448781	6216	17	C	A	A	A	220	17	FNDC8	2	2
CCL23	6368	broad.mit.edu	37	17	34340789	34340789	+	Silent	SNP	A	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:34340789A>C	uc002hks.1	-	c.297T>G	c.(295-297)GGT>GGG	p.G99G	CCL23_uc002hkt.1_Silent_p.G82G	NM_005064	NP_005055	P55773	CCL23_HUMAN	small inducible cytokine A23 isoform CKbeta8-1	82					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)									0.2	37.583041	43.861214	15	60	KEEP	---	---	---	---	capture		Silent	SNP	34340789	34340789	3020	17	A	C	C	C	67	6	CCL23	4	4
KRT33B	3884	broad.mit.edu	37	17	39521447	39521447	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39521447G>T	uc002hwl.2	-	c.856C>A	c.(856-858)CTG>ATG	p.L286M		NM_002279	NP_002270	Q14525	KT33B_HUMAN	type I hair keratin 3B	286	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)												0.20362	95.437052	113.471167	45	176	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39521447	39521447	8785	17	G	T	T	T	438	34	KRT33B	2	2
KRT38	8687	broad.mit.edu	37	17	39594386	39594386	+	Missense_Mutation	SNP	C	A	A	rs72828202	by1000genomes	TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:39594386C>A	uc002hwq.1	-	c.1200G>T	c.(1198-1200)GAG>GAT	p.E400D		NM_006771	NP_006762	O76015	KRT38_HUMAN	keratin 38	400	Coil 2.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.000496)												0.098592	3.348661	26.247703	14	128	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39594386	39594386	8790	17	C	A	A	A	415	32	KRT38	2	2
BECN1	8678	broad.mit.edu	37	17	40966604	40966604	+	Silent	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:40966604A>G	uc002ibo.3	-	c.918T>C	c.(916-918)GCT>GCC	p.A306A	BECN1_uc010whb.1_Silent_p.A219A|BECN1_uc010whc.1_Silent_p.A230A|BECN1_uc002ibn.2_Silent_p.A306A	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	306					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)										0.235294	85.9427	93.564892	28	91	KEEP	---	---	---	---	capture		Silent	SNP	40966604	40966604	1419	17	A	G	G	G	28	3	BECN1	4	4
HOXB4	3214	broad.mit.edu	37	17	46655326	46655326	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:46655326G>T	uc002inp.2	-	c.356C>A	c.(355-357)CCG>CAG	p.P119Q	HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	NM_024015	NP_076920	P17483	HXB4_HUMAN	homeobox B4	119	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1														0.178082	22.628029	29.758419	13	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	46655326	46655326	7595	17	G	T	T	T	507	39	HOXB4	1	1
GIP	2695	broad.mit.edu	37	17	47041781	47041781	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47041781G>A	uc002iol.1	-	c.148C>T	c.(148-150)CCC>TCC	p.P50S		NM_004123	NP_004114	P09681	GIP_HUMAN	gastric inhibitory polypeptide preproprotein	50					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity				0														0.110553	21.535045	51.384268	22	177	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47041781	47041781	6659	17	G	A	A	A	559	43	GIP	2	2
NGFR	4804	broad.mit.edu	37	17	47583901	47583901	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:47583901C>A	uc002ioz.3	+	c.449C>A	c.(448-450)CCC>CAC	p.P150H		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	150	Extracellular (Potential).|TNFR-Cys 4.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)	1	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)									46				0.125	6.25292	15.060262	8	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47583901	47583901	10796	17	C	A	A	A	286	22	NGFR	2	2
BCAS3	54828	broad.mit.edu	37	17	59445833	59445833	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:59445833G>T	uc002iyv.3	+	c.2616G>T	c.(2614-2616)CGG>CGT	p.R872R	BCAS3_uc002iyu.3_Silent_p.R857R|BCAS3_uc002iyw.3_Silent_p.R853R|BCAS3_uc002iyy.3_Silent_p.R628R|BCAS3_uc002iyz.3_Silent_p.R426R|BCAS3_uc002iza.3_Silent_p.R411R|BCAS3_uc002izb.3_Non-coding_Transcript|BCAS3_uc002izc.3_Non-coding_Transcript|BCAS3_uc002izd.3_5'UTR	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	872						nucleus				ovary(2)|central_nervous_system(2)	4			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)											0.175439	19.614255	25.278394	10	47	KEEP	---	---	---	---	capture		Silent	SNP	59445833	59445833	1373	17	G	T	T	T	548	43	BCAS3	2	2
DULLARD	23399	broad.mit.edu	37	17	7150664	7150664	+	Splice_Site_SNP	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7150664T>A	uc002gfd.2	-	c.103_splice	c.e2-1	p.V35_splice	DULLARD_uc002gfe.2_Splice_Site_SNP_p.V35_splice|DULLARD_uc002gff.2_Splice_Site_SNP_p.V35_splice|DULLARD_uc002gfc.2_Splice_Site_SNP	NM_001143775	NP_001137247			dullard homolog						nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity				0														0.442623	78.315463	78.490446	27	34	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	7150664	7150664	4984	17	T	A	A	A	689	53	DULLARD	5	3
NLGN2	57555	broad.mit.edu	37	17	7317981	7317981	+	Splice_Site_SNP	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7317981G>T	uc002ggt.1	+	c.659_splice	c.e4-1	p.G220_splice		NM_020795	NP_065846			neuroligin 2 precursor						cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|regulation of synaptic transmission|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	carboxylesterase activity|neurexin binding			central_nervous_system(1)	1		Prostate(122;0.157)												0.361702	184.979719	188.130835	68	120	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	7317981	7317981	10865	17	G	T	T	T	455	35	NLGN2	5	2
GPS1	2873	broad.mit.edu	37	17	80011904	80011904	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:80011904G>A	uc002kdk.1	+	c.407G>A	c.(406-408)CGC>CAC	p.R136H	RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdl.1_Missense_Mutation_p.R96H|GPS1_uc010dij.1_Missense_Mutation_p.R136H|GPS1_uc002kdm.1_Missense_Mutation_p.R80H|GPS1_uc002kdn.1_Missense_Mutation_p.R96H|GPS1_uc002kdo.1_Missense_Mutation_p.R96H|GPS1_uc010wvh.1_Missense_Mutation_p.R88H	NM_212492	NP_997657	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 1	96					cell cycle|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)											0.543478	76.677302	76.752931	25	21	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	80011904	80011904	7008	17	G	A	A	A	494	38	GPS1	1	1
C17orf68	80169	broad.mit.edu	37	17	8141519	8141519	+	Silent	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:8141519C>A	uc002gkq.3	-	c.477G>T	c.(475-477)CTG>CTT	p.L159L	C17orf68_uc010cnv.2_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	alpha accessory factor 132	159					telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding				0														0.201754	50.252943	59.682665	23	91	KEEP	---	---	---	---	capture		Silent	SNP	8141519	8141519	1933	17	C	A	A	A	210	17	C17orf68	2	2
KIAA1012	22878	broad.mit.edu	37	18	29446938	29446938	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:29446938C>A	uc002kxc.3	-	c.2464G>T	c.(2464-2466)GCA>TCA	p.A822S	KIAA1012_uc002kxb.3_Missense_Mutation_p.A768S|KIAA1012_uc002kxd.3_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	822					ER to Golgi vesicle-mediated transport	cis-Golgi network					0														0.428571	43.118093	43.274081	15	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	29446938	29446938	8511	18	C	A	A	A	338	26	KIAA1012	2	2
CDH7	1005	broad.mit.edu	37	18	63511297	63511297	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr18:63511297G>T	uc002ljz.2	+	c.1231G>T	c.(1231-1233)GTG>TTG	p.V411L	CDH7_uc002lka.2_Missense_Mutation_p.V411L|CDH7_uc002lkb.2_Missense_Mutation_p.V411L	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	411	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.129)												0.145161	16.031196	23.542827	9	53	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	63511297	63511297	3244	18	G	T	T	T	624	48	CDH7	2	2
ZNF490	57474	broad.mit.edu	37	19	12719994	12719994	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:12719994C>T	uc002mtz.2	-	c.140G>A	c.(139-141)GGA>GAA	p.G47E	ZNF791_uc002mua.2_5'Flank|ZNF791_uc010xml.1_5'Flank|ZNF791_uc010dyu.1_5'Flank|ZNF791_uc010xmm.1_5'Flank	NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0														0.280702	42.273852	44.739173	16	41	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12719994	12719994	18535	19	C	T	T	T	390	30	ZNF490	2	2
ZNF208	7757	broad.mit.edu	37	19	22154366	22154366	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:22154366C>A	uc002nqp.2	-	c.3086G>T	c.(3085-3087)AGT>ATT	p.S1029I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)	5		all_lung(12;0.0961)|Lung NSC(12;0.103)												0.285714	22.288503	23.442175	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22154366	22154366	18357	19	C	A	A	A	260	20	ZNF208	2	2
POP4	10775	broad.mit.edu	37	19	30102776	30102776	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:30102776C>G	uc002nsf.2	+	c.292C>G	c.(292-294)CTT>GTT	p.L98V	POP4_uc002nsg.2_Missense_Mutation_p.L17V	NM_006627	NP_006618	O95707	RPP29_HUMAN	processing of precursor 4	98					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			Melanoma(89;1165 1449 14085 34436 43672)								0.265537	128.592704	137.430438	47	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	30102776	30102776	12681	19	C	G	G	G	312	24	POP4	3	3
LIN37	55957	broad.mit.edu	37	19	36244981	36244981	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:36244981G>A	uc002obm.2	+	c.508G>A	c.(508-510)GGG>AGG	p.G170R		NM_019104	NP_061977	Q96GY3	LIN37_HUMAN	lin-37 homolog	170	Pro-rich.						protein binding				0	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)											0.306452	103.686942	107.839546	38	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36244981	36244981	9134	19	G	A	A	A	559	43	LIN37	2	2
HKR1	284459	broad.mit.edu	37	19	37853356	37853356	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37853356G>T	uc002ogb.2	+	c.659G>T	c.(658-660)AGC>ATC	p.S220I	HKR1_uc002ofx.2_5'UTR|HKR1_uc002ofy.2_5'UTR|HKR1_uc002oga.2_Missense_Mutation_p.S202I|HKR1_uc010xto.1_Missense_Mutation_p.S202I|HKR1_uc002ogc.2_Missense_Mutation_p.S201I|HKR1_uc010xtp.1_Missense_Mutation_p.S159I|HKR1_uc002ogd.2_Missense_Mutation_p.S159I	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	220					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.331034	123.838398	127.513047	48	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37853356	37853356	7485	19	G	T	T	T	442	34	HKR1	2	2
ZNF527	84503	broad.mit.edu	37	19	37879423	37879423	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:37879423A>G	uc010efk.1	+	c.472A>G	c.(472-474)ACT>GCT	p.T158A	ZNF527_uc002ogf.3_Missense_Mutation_p.T126A|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	zinc finger protein 527	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)											0.428571	119.509782	119.861522	33	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37879423	37879423	18562	19	A	G	G	G	182	14	ZNF527	4	4
FBXO27	126433	broad.mit.edu	37	19	39522510	39522510	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:39522510C>A	uc002okh.2	-	c.358G>T	c.(358-360)GGC>TGC	p.G120C		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	F-box protein 27	120	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			ovary(1)	1	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)											0.24	26.87464	29.96139	12	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39522510	39522510	5974	19	C	A	A	A	299	23	FBXO27	1	1
ZNF780B	163131	broad.mit.edu	37	19	40541960	40541960	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:40541960C>A	uc002omu.2	-	c.806G>T	c.(805-807)AGT>ATT	p.S269I	ZNF780B_uc002omv.2_Missense_Mutation_p.S121I	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	269	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)													0.189189	29.602719	36.293689	14	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40541960	40541960	18751	19	C	A	A	A	260	20	ZNF780B	2	2
PSG7	5676	broad.mit.edu	37	19	43430068	43430068	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:43430068G>T	uc002ovl.3	-	c.1100C>A	c.(1099-1101)ACA>AAA	p.T367K	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Missense_Mutation_p.T280K|PSG7_uc002ous.1_Non-coding_Transcript|PSG7_uc002out.1_Missense_Mutation_p.T93K|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.T280K|PSG7_uc010xwl.1_Missense_Mutation_p.T245K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	367	Ig-like C2-type 3.				female pregnancy	extracellular region					0		Prostate(69;0.00682)												0.27044	234.496934	249.620594	86	232	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43430068	43430068	13113	19	G	T	T	T	624	48	PSG7	2	2
ZNF227	7770	broad.mit.edu	37	19	44740634	44740634	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:44740634G>T	uc002oyu.2	+	c.2051G>T	c.(2050-2052)GGA>GTA	p.G684V	ZNF227_uc010xwu.1_Missense_Mutation_p.G633V|ZNF227_uc002oyv.2_Missense_Mutation_p.G684V|ZNF227_uc010xwv.1_Missense_Mutation_p.G633V|ZNF227_uc010xww.1_Missense_Mutation_p.G605V|ZNF227_uc002oyw.2_Missense_Mutation_p.G656V|ZNF227_uc010ejh.2_Missense_Mutation_p.G677V|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)												0.253165	46.261062	50.63259	20	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44740634	44740634	18372	19	G	T	T	T	533	41	ZNF227	2	2
PLIN4	729359	broad.mit.edu	37	19	4511380	4511380	+	Silent	SNP	G	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:4511380G>C	uc002mar.1	-	c.2550C>G	c.(2548-2550)ACC>ACG	p.T850T	PLIN4_uc010dub.1_Intron	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	850	27 X 33 AA approximate tandem repeat.|23.			NTLG -> DTVC (in Ref. 2; BAB67774).		lipid particle|plasma membrane					0														0.300469	179.967042	187.579117	64	149	KEEP	---	---	---	---	capture		Silent	SNP	4511380	4511380	12518	19	G	C	C	C	548	43	PLIN4	3	3
MED25	81857	broad.mit.edu	37	19	50334694	50334694	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:50334694G>T	uc002ppw.1	+	c.1206G>T	c.(1204-1206)TGG>TGT	p.W402C	MED25_uc010ybe.1_Missense_Mutation_p.W189C|MED25_uc002ppx.1_Missense_Mutation_p.W183C	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	mediator complex subunit 25	402	Interaction with VP16.|Interaction with CREBBP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GBM(51;894 1657 37868)								0.375	32.589934	33.029674	12	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50334694	50334694	9832	19	G	T	T	T	533	41	MED25	2	2
SHANK1	50944	broad.mit.edu	37	19	51189549	51189549	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:51189549G>T	uc002psx.1	-	c.2522C>A	c.(2521-2523)CCC>CAC	p.P841H	SHANK1_uc002psw.1_Missense_Mutation_p.P225H	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	841					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)										0.23622	64.578129	72.665206	30	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51189549	51189549	14756	19	G	T	T	T	559	43	SHANK1	2	2
SIGLEC6	946	broad.mit.edu	37	19	52034721	52034721	+	Silent	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:52034721C>A	uc002pwy.2	-	c.120G>T	c.(118-120)ACG>ACT	p.T40T	SIGLEC6_uc002pwz.2_Silent_p.T40T|SIGLEC6_uc002pxa.2_Silent_p.T40T|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Silent_p.T29T|SIGLEC6_uc010eoz.1_Silent_p.T29T|SIGLEC6_uc010epb.1_Intron|SIGLEC6_uc010epa.1_Silent_p.T29T	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	40	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)										0.114583	12.057088	26.113746	11	85	KEEP	---	---	---	---	capture		Silent	SNP	52034721	52034721	14807	19	C	A	A	A	288	23	SIGLEC6	1	1
ZNF320	162967	broad.mit.edu	37	19	53384141	53384141	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:53384141T>C	uc002qag.2	-	c.1238A>G	c.(1237-1239)TAC>TGC	p.Y413C	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.Y359C|ZNF320_uc002qai.2_Missense_Mutation_p.Y413C	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	413	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)										0.333333	83.281405	85.049947	24	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	53384141	53384141	18431	19	T	C	C	C	741	57	ZNF320	4	4
LILRB2	10288	broad.mit.edu	37	19	54782754	54782754	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:54782754A>G	uc002qfb.2	-	c.868T>C	c.(868-870)TAC>CAC	p.Y290H	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.Y290H|LILRB2_uc010erj.2_Non-coding_Transcript|LILRB2_uc002qfc.2_Missense_Mutation_p.Y290H|LILRB2_uc010yet.1_Missense_Mutation_p.Y174H|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	290	Extracellular (Potential).|Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)										0.4	87.641722	88.208497	26	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54782754	54782754	9117	19	A	G	G	G	195	15	LILRB2	4	4
LILRA2	11027	broad.mit.edu	37	19	55086877	55086877	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55086877G>T	uc002qgg.3	+	c.810G>T	c.(808-810)CAG>CAT	p.Q270H	LILRA2_uc010ern.2_Missense_Mutation_p.Q270H|LILRA2_uc002qgf.2_Missense_Mutation_p.Q270H|LILRA2_uc010yfe.1_Missense_Mutation_p.Q270H|LILRA2_uc010yff.1_Missense_Mutation_p.Q258H|LILRA2_uc010ero.2_Missense_Mutation_p.Q258H|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	270	Ig-like C2-type 3.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)										0.343558	143.424737	146.960109	56	107	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55086877	55086877	9111	19	G	T	T	T	438	34	LILRA2	2	2
LILRA1	11024	broad.mit.edu	37	19	55106723	55106723	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55106723C>A	uc002qgh.1	+	c.517C>A	c.(517-519)CGT>AGT	p.R173S	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.R173S	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	173	Ig-like C2-type 2.|Extracellular (Potential).				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)										0.268293	200.044258	213.962912	77	210	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55106723	55106723	9110	19	C	A	A	A	299	23	LILRA1	1	1
NLRP7	199713	broad.mit.edu	37	19	55450745	55450745	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:55450745G>C	uc010esl.2	-	c.1526C>G	c.(1525-1527)GCC>GGC	p.A509G	NLRP7_uc002qig.3_Missense_Mutation_p.A481G|NLRP7_uc002qii.3_Missense_Mutation_p.A481G|NLRP7_uc002qih.3_Missense_Mutation_p.A481G|NLRP7_uc010esk.2_Missense_Mutation_p.A481G	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	481	NACHT.						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)										0.330645	139.360544	142.498508	41	83	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	55450745	55450745	10885	19	G	C	C	C	546	42	NLRP7	3	3
ZNF460	10794	broad.mit.edu	37	19	57802481	57802481	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:57802481C>T	uc002qog.2	+	c.572C>T	c.(571-573)CCT>CTT	p.P191L	ZNF460_uc010ygv.1_Missense_Mutation_p.P150L	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)										0.318919	174.857139	180.249493	59	126	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	57802481	57802481	18517	19	C	T	T	T	312	24	ZNF460	2	2
ZNF416	55659	broad.mit.edu	37	19	58084737	58084737	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58084737C>A	uc002qpf.2	-	c.535G>T	c.(535-537)GAC>TAC	p.D179Y	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)										0.291971	97.373217	102.667573	40	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	58084737	58084737	18486	19	C	A	A	A	390	30	ZNF416	2	2
A1BG	1	broad.mit.edu	37	19	58858921	58858921	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:58858921G>T	uc002qsd.3	-	c.1278C>A	c.(1276-1278)CCC>CCA	p.P426P	NCRNA00181_uc002qse.2_5'Flank	NM_130786	NP_570602	P04217	A1BG_HUMAN	alpha 1B-glycoprotein precursor	426	Ig-like V-type 5.					extracellular region					0		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)										0.384615	28.643739	28.947242	10	16	KEEP	---	---	---	---	capture		Silent	SNP	58858921	58858921	1	19	G	T	T	T	600	47	A1BG	2	2
TRIP10	9322	broad.mit.edu	37	19	6750571	6750571	+	Silent	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:6750571G>A	uc002mfs.2	+	c.1584G>A	c.(1582-1584)ACG>ACA	p.T528T	TRIP10_uc010dux.1_Silent_p.T472T|TRIP10_uc002mfr.2_Silent_p.T472T|TRIP10_uc010duy.2_Non-coding_Transcript|TRIP10_uc010duz.2_Silent_p.T291T	NM_004240	NP_004231	Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	528	Interaction with CDC42.|Interaction with PDE6G (By similarity).|Interaction with DNM2 and WASL (By similarity).|Required for interaction with FASLG and localization to lysosomes.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			ovary(1)	1														0.125	26.557845	46.333051	18	126	KEEP	---	---	---	---	capture		Silent	SNP	6750571	6750571	17104	19	G	A	A	A	496	39	TRIP10	1	1
MUC16	94025	broad.mit.edu	37	19	9062932	9062932	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:9062932G>T	uc002mkp.2	-	c.24514C>A	c.(24514-24516)CTC>ATC	p.L8172I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8174	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														0.28	104.375996	110.910753	42	108	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	9062932	9062932	10367	19	G	T	T	T	442	34	MUC16	2	2
VCAM1	7412	broad.mit.edu	37	1	101185437	101185437	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:101185437G>T	uc001dti.2	+	c.21G>T	c.(19-21)GTG>GTT	p.V7V	VCAM1_uc001dtj.2_Silent_p.V7V|VCAM1_uc010ouj.1_Silent_p.V7V	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	7					B cell differentiation|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)									0.258621	36.203868	39.262393	15	43	KEEP	---	---	---	---	capture		Silent	SNP	101185437	101185437	17702	1	G	T	T	T	574	45	VCAM1	2	2
UBE2J2	118424	broad.mit.edu	37	1	1192480	1192480	+	Silent	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1192480C>A	uc001ado.2	-	c.354G>T	c.(352-354)CCG>CCT	p.P118P	UBE2J2_uc001adm.2_Silent_p.P67P|UBE2J2_uc001adn.2_Silent_p.P102P|UBE2J2_uc001adp.2_Silent_p.P102P|UBE2J2_uc001adq.2_Silent_p.P50P|UBE2J2_uc001adr.2_Silent_p.P50P|UBE2J2_uc001ads.2_Silent_p.P50P	NM_194315	NP_919296	Q8N2K1	UB2J2_HUMAN	ubiquitin conjugating enzyme E2, J2 isoform 1	102	Cytoplasmic (Potential).				post-translational protein modification|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)										0.302885	171.065086	178.268502	63	145	KEEP	---	---	---	---	capture		Silent	SNP	1192480	1192480	17418	1	C	A	A	A	288	23	UBE2J2	1	1
LOC649330	649330	broad.mit.edu	37	1	12908093	12908093	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:12908093C>A	uc009vno.2	-	c.50G>T	c.(49-51)CGT>CTT	p.R17L	HNRNPCL1_uc010obf.1_Missense_Mutation_p.R17L	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	17							nucleic acid binding|nucleotide binding				0														0.084211	4.96386	38.30441	16	174	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	12908093	12908093	9249	1	C	A	A	A	247	19	LOC649330	1	1
SEC22B	9554	broad.mit.edu	37	1	145115850	145115850	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:145115850C>A	uc001eml.1	+	c.609C>A	c.(607-609)TTC>TTA	p.F203L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	203	Helical; Anchor for type IV membrane protein; (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0														0.126866	20.897183	39.086895	17	117	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	145115850	145115850	14475	1	C	A	A	A	376	29	SEC22B	2	2
ATAD3A	55210	broad.mit.edu	37	1	1458249	1458249	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:1458249G>T	uc001afz.1	+	c.1020G>T	c.(1018-1020)ACG>ACT	p.T340T	ATAD3A_uc001aga.1_Silent_p.T292T|ATAD3A_uc001agb.1_Silent_p.T213T	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	340							ATP binding|nucleoside-triphosphatase activity|protein binding				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)										0.133333	5.980507	9.894081	4	26	KEEP	---	---	---	---	capture		Silent	SNP	1458249	1458249	1092	1	G	T	T	T	496	39	ATAD3A	1	1
FLG	2312	broad.mit.edu	37	1	152277110	152277110	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:152277110C>A	uc001ezu.1	-	c.10252G>T	c.(10252-10254)GCA>TCA	p.A3418S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3418	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)											0.136765	118.643887	205.498961	93	587	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152277110	152277110	6160	1	C	A	A	A	338	26	FLG	2	2
DCST2	127579	broad.mit.edu	37	1	155002563	155002563	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:155002563G>A	uc001fgm.2	-	c.1174C>T	c.(1174-1176)CCG>TCG	p.P392S	DCST2_uc009wpb.2_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	392	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)											0.09633	6.400504	42.0526	21	197	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	155002563	155002563	4474	1	G	A	A	A	572	44	DCST2	2	2
FCRL2	79368	broad.mit.edu	37	1	157738300	157738300	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:157738300G>T	uc001fre.2	-	c.787C>A	c.(787-789)CCA>ACA	p.P263T	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.P263T|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2 precursor	263	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)											0.40056	408.736888	411.82801	143	214	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	157738300	157738300	6032	1	G	T	T	T	559	43	FCRL2	2	2
SPTA1	6708	broad.mit.edu	37	1	158615031	158615031	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:158615031C>A	uc001fst.1	-	c.4141G>T	c.(4141-4143)GAG>TAG	p.E1381*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1381	Spectrin 13.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|breast(1)	5	all_hematologic(112;0.0378)													0.507042	423.873897	423.885734	144	140	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	158615031	158615031	15630	1	C	A	A	A	390	30	SPTA1	5	2
OR10J1	26476	broad.mit.edu	37	1	159410018	159410018	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159410018T>A	uc010piv.1	+	c.470T>A	c.(469-471)CTG>CAG	p.L157Q		NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	157	Helical; Name=4; (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)													0.56391	479.666892	480.612066	150	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	159410018	159410018	11316	1	T	A	A	A	715	55	OR10J1	3	3
TAGLN2	8407	broad.mit.edu	37	1	159888698	159888698	+	Silent	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:159888698A>G	uc001fum.1	-	c.492T>C	c.(490-492)GAT>GAC	p.D164D	CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Silent_p.D164D|TAGLN2_uc001fuo.1_3'UTR	NM_003564	NP_003555	P37802	TAGL2_HUMAN	transgelin 2	164					muscle organ development	nuclear membrane|plasma membrane	protein binding				0	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)											0.117241	56.371291	98.118187	34	256	KEEP	---	---	---	---	capture		Silent	SNP	159888698	159888698	16060	1	A	G	G	G	206	16	TAGLN2	4	4
NOS1AP	9722	broad.mit.edu	37	1	162313767	162313767	+	Splice_Site_SNP	SNP	G	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:162313767G>C	uc001gbv.2	+	c.595_splice	c.e6+1	p.G199_splice	NOS1AP_uc010pkr.1_Splice_Site_SNP_p.G194_splice|NOS1AP_uc010pks.1_Splice_Site_SNP|NOS1AP_uc001gbw.2_Splice_Site_SNP_p.G194_splice	NM_014697	NP_055512			nitric oxide synthase 1 (neuronal) adaptor						regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)	2	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)											0.607595	186.820068	187.62208	48	31	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	162313767	162313767	10945	1	G	C	C	C	572	44	NOS1AP	5	3
CROCC	9696	broad.mit.edu	37	1	17257855	17257855	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:17257855C>T	uc001azt.2	+	c.919C>T	c.(919-921)CGG>TGG	p.R307W	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Missense_Mutation_p.R70W	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	307					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)	4		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)										0.176	45.927266	58.25484	22	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17257855	17257855	4032	1	C	T	T	T	295	23	CROCC	1	1
TNR	7143	broad.mit.edu	37	1	175324739	175324739	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175324739C>A	uc001gkp.1	-	c.3149G>T	c.(3148-3150)AGT>ATT	p.S1050I	TNR_uc009wwu.1_Missense_Mutation_p.S1050I	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1050	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.635714	284.925456	287.208799	89	51	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175324739	175324739	16879	1	C	A	A	A	260	20	TNR	2	2
TNR	7143	broad.mit.edu	37	1	175372653	175372653	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:175372653G>A	uc001gkp.1	-	c.599C>T	c.(598-600)TCG>TTG	p.S200L	TNR_uc009wwu.1_Missense_Mutation_p.S200L|TNR_uc010pmz.1_Missense_Mutation_p.S200L	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	200	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)													0.109195	33.1972	85.755459	38	310	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175372653	175372653	16879	1	G	A	A	A	481	37	TNR	1	1
FAM5B	57795	broad.mit.edu	37	1	177226496	177226496	+	Silent	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:177226496C>A	uc001glf.2	+	c.645C>A	c.(643-645)ATC>ATA	p.I215I	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_Silent_p.I110I	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	215						extracellular region				ovary(2)	2														0.611111	95.871401	96.452712	33	21	KEEP	---	---	---	---	capture		Silent	SNP	177226496	177226496	5816	1	C	A	A	A	382	30	FAM5B	2	2
HMCN1	83872	broad.mit.edu	37	1	186086738	186086738	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:186086738A>G	uc001grq.1	+	c.11831A>G	c.(11830-11832)TAT>TGT	p.Y3944C		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3944	Ig-like C2-type 38.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.621622	270.012573	271.457917	69	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	186086738	186086738	7511	1	A	G	G	G	208	16	HMCN1	4	4
PAX7	5081	broad.mit.edu	37	1	19062359	19062359	+	Silent	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:19062359C>A	uc001bay.2	+	c.1389C>A	c.(1387-1389)GGC>GGA	p.G463G	PAX7_uc001baz.2_Silent_p.G461G|PAX7_uc010oct.1_Silent_p.G463G	NM_002584	NP_002575	P23759	PAX7_HUMAN	paired box 7 isoform 1	463					anti-apoptosis|regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity		PAX7/FOXO1(197)	soft_tissue(197)|ovary(1)|lung(1)	199		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)						129				0.160494	20.523446	29.414027	13	68	KEEP	---	---	---	---	capture		Silent	SNP	19062359	19062359	11904	1	C	A	A	A	327	26	PAX7	2	2
CENPF	1063	broad.mit.edu	37	1	214791961	214791961	+	Silent	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:214791961A>T	uc001hkm.2	+	c.405A>T	c.(403-405)GCA>GCT	p.A135A		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	135	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).|Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)	12				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		Colon(80;575 1284 11000 14801 43496)								0.138686	29.542578	46.824903	19	118	KEEP	---	---	---	---	capture		Silent	SNP	214791961	214791961	3364	1	A	T	T	T	80	7	CENPF	3	3
USH2A	7399	broad.mit.edu	37	1	215848813	215848813	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:215848813G>T	uc001hku.1	-	c.12440C>A	c.(12439-12441)CCT>CAT	p.P4147H		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4147	Fibronectin type-III 26.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|kidney(1)|central_nervous_system(1)	22				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)										0.164384	22.652158	30.461213	12	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	215848813	215848813	17598	1	G	T	T	T	455	35	USH2A	2	2
USP48	84196	broad.mit.edu	37	1	22083110	22083110	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:22083110C>T	uc010odq.1	-	c.341G>A	c.(340-342)CGG>CAG	p.R114Q	USP48_uc001bfb.2_Missense_Mutation_p.R114Q|USP48_uc009vqc.2_Missense_Mutation_p.R114Q|USP48_uc001bfc.2_Missense_Mutation_p.R114Q|USP48_uc001bfe.1_Missense_Mutation_p.R114Q|USP48_uc001bff.2_Missense_Mutation_p.R114Q	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	114					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)	1		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)										0.164894	59.515384	79.54818	31	157	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	22083110	22083110	17643	1	C	T	T	T	299	23	USP48	1	1
TAF1A	9015	broad.mit.edu	37	1	222761891	222761891	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:222761891A>T	uc009xdz.1	-	c.15T>A	c.(13-15)AGT>AGA	p.S5R	TAF1A_uc001hni.1_5'UTR|TAF1A_uc001hnj.2_Missense_Mutation_p.S5R|TAF1A_uc001hnk.2_5'UTR|TAF1A_uc010pur.1_Missense_Mutation_p.S5R	NM_139352	NP_647603	Q15573	TAF1A_HUMAN	TBP-associated factor 1A isoform 2	5					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding|general RNA polymerase II transcription factor activity|RNA polymerase I transcription factor activity				0				GBM - Glioblastoma multiforme(131;0.0186)										0.080169	0.620895	43.329049	19	218	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	222761891	222761891	16040	1	A	T	T	T	76	6	TAF1A	3	3
C1orf55	163859	broad.mit.edu	37	1	226183030	226183030	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:226183030T>C	uc001hpu.3	-	c.175A>G	c.(175-177)AGT>GGT	p.S59G	C1orf55_uc001hpv.2_Missense_Mutation_p.S59G	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	59										lung(1)	1	Breast(184;0.197)													0.087137	6.690473	48.268572	21	220	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	226183030	226183030	2121	1	T	C	C	C	715	55	C1orf55	4	4
SIPA1L2	57568	broad.mit.edu	37	1	232619633	232619633	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:232619633G>A	uc001hvg.2	-	c.1886C>T	c.(1885-1887)ACG>ATG	p.T629M		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	629	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.088496	2.261513	21.60548	10	103	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	232619633	232619633	14825	1	G	A	A	A	520	40	SIPA1L2	1	1
RYR2	6262	broad.mit.edu	37	1	237713886	237713886	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:237713886C>T	uc001hyl.1	+	c.3109C>T	c.(3109-3111)CTT>TTT	p.L1037F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1037	Cytoplasmic (By similarity).|2.|B30.2/SPRY 2.|4 X approximate repeats.			L -> P (in Ref. 1; CAA66975 and 2; CAC18855).	cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)											0.555556	48.126898	48.19932	15	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	237713886	237713886	14249	1	C	T	T	T	416	32	RYR2	2	2
CNR2	1269	broad.mit.edu	37	1	24201556	24201556	+	Silent	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:24201556T>A	uc001bif.2	-	c.552A>T	c.(550-552)CCA>CCT	p.P184P		NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	184	Extracellular (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)									0.148148	22.150839	31.772793	12	69	KEEP	---	---	---	---	capture		Silent	SNP	24201556	24201556	3770	1	T	A	A	A	756	59	CNR2	3	3
MATN1	4146	broad.mit.edu	37	1	31189047	31189047	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:31189047C>T	uc001brz.2	-	c.916G>A	c.(916-918)GAC>AAC	p.D306N	MATN1_uc001bsa.1_Missense_Mutation_p.D224N	NM_002379	NP_002370	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein precursor	306	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)	1		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)										0.288462	78.50365	82.678693	30	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31189047	31189047	9717	1	C	T	T	T	390	30	MATN1	2	2
ZMYM1	79830	broad.mit.edu	37	1	35579110	35579110	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:35579110A>T	uc001bym.2	+	c.1679A>T	c.(1678-1680)AAT>ATT	p.N560I	ZMYM1_uc001byn.2_Missense_Mutation_p.N560I|ZMYM1_uc010ohu.1_Missense_Mutation_p.N541I|ZMYM1_uc001byo.2_Missense_Mutation_p.N200I|ZMYM1_uc009vut.2_Missense_Mutation_p.N485I	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	560						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)												0.442623	83.115777	83.290773	27	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	35579110	35579110	18290	1	A	T	T	T	52	4	ZMYM1	3	3
C1orf216	127703	broad.mit.edu	37	1	36181806	36181806	+	Silent	SNP	G	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:36181806G>C	uc001bzh.1	-	c.117C>G	c.(115-117)GCC>GCG	p.A39A		NM_152374	NP_689587	Q8TAB5	CA216_HUMAN	hypothetical protein LOC127703	39											0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)										OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.181159	55.589419	68.77549	25	113	KEEP	---	---	---	---	capture		Silent	SNP	36181806	36181806	2101	1	G	C	C	C	600	47	C1orf216	3	3
ATP6V0B	533	broad.mit.edu	37	1	44441472	44441472	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:44441472G>T	uc001cld.2	+	c.68G>T	c.(67-69)GGA>GTA	p.G23V	ATP6V0B_uc001clc.2_Missense_Mutation_p.G23V|ATP6V0B_uc001cle.2_Intron|ATP6V0B_uc001clf.2_5'UTR	NM_004047	NP_004038	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0	23	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)												0.300601	370.523281	388.268634	150	349	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	44441472	44441472	1190	1	G	T	T	T	533	41	ATP6V0B	2	2
TCTEX1D1	200132	broad.mit.edu	37	1	67241985	67241985	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:67241985G>T	uc001dcv.2	+	c.235G>T	c.(235-237)GTC>TTC	p.V79F	TCTEX1D1_uc009wau.2_Non-coding_Transcript|TCTEX1D1_uc009wav.2_Intron	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	79											0														0.319149	42.107959	43.474278	15	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	67241985	67241985	16245	1	G	T	T	T	572	44	TCTEX1D1	2	2
LPHN2	23266	broad.mit.edu	37	1	82409048	82409048	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:82409048G>C	uc001dit.3	+	c.793G>C	c.(793-795)GAC>CAC	p.D265H	LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.D265H|LPHN2_uc001div.2_Missense_Mutation_p.D265H|LPHN2_uc009wcd.2_Missense_Mutation_p.D265H	NM_012302	NP_036434	O95490	LPHN2_HUMAN	latrophilin 2 precursor	265	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			ovary(2)|central_nervous_system(1)	3				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)										0.35	72.858938	74.049192	21	39	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	82409048	82409048	9289	1	G	C	C	C	481	37	LPHN2	3	3
PLEKHN1	84069	broad.mit.edu	37	1	905907	905907	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:905907A>T	uc001ace.2	+	c.337A>T	c.(337-339)AGC>TGC	p.S113C	PLEKHN1_uc001acd.2_Missense_Mutation_p.S113C|PLEKHN1_uc001acf.2_Missense_Mutation_p.S113C	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N	113	PH 1.										0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)										0.349398	77.022266	78.695197	29	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	905907	905907	12509	1	A	T	T	T	91	7	PLEKHN1	3	3
RPAP2	79871	broad.mit.edu	37	1	92789591	92789591	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:92789591G>C	uc001dot.2	+	c.1114G>C	c.(1114-1116)GAG>CAG	p.E372Q	RPAP2_uc009wdh.2_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	372						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity				0		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)										0.160377	42.608746	54.245841	17	89	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92789591	92789591	14021	1	G	C	C	C	533	41	RPAP2	3	3
CRNKL1	51340	broad.mit.edu	37	20	20031146	20031146	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:20031146C>A	uc002wrs.2	-	c.655G>T	c.(655-657)GAA>TAA	p.E219*	C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Nonsense_Mutation_p.E207*	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	crooked neck-like 1 protein	219					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			ovary(2)|large_intestine(1)	3														0.28	68.850288	73.206731	28	72	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	20031146	20031146	4030	20	C	A	A	A	416	32	CRNKL1	5	2
NOP56	10528	broad.mit.edu	37	20	2638609	2638609	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:2638609A>C	uc002wgh.2	+	c.1454A>C	c.(1453-1455)CAA>CCA	p.Q485P	NOP56_uc010zpy.1_Non-coding_Transcript|NOP56_uc002wgi.2_Missense_Mutation_p.Q319P|NOP56_uc002wgm.1_3'UTR	NM_006392	NP_006383	O00567	NOP56_HUMAN	nucleolar protein 5A	485	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2														0.389011	648.405603	653.305591	177	278	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2638609	2638609	10942	20	A	C	C	C	65	5	NOP56	4	4
KIAA1755	85449	broad.mit.edu	37	20	36868046	36868046	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:36868046G>A	uc002xhy.1	-	c.1631C>T	c.(1630-1632)GCT>GTT	p.A544V	KIAA1755_uc002xhz.1_Missense_Mutation_p.A544V	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	544										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)												0.24183	88.681491	97.998477	37	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36868046	36868046	8568	20	G	A	A	A	442	34	KIAA1755	2	2
HNF4A	3172	broad.mit.edu	37	20	43048493	43048493	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:43048493A>C	uc002xma.2	+	c.869A>C	c.(868-870)AAA>ACA	p.K290T	HNF4A_uc002xlt.2_Missense_Mutation_p.K268T|HNF4A_uc002xlu.2_Missense_Mutation_p.K268T|HNF4A_uc002xlv.2_Missense_Mutation_p.K268T|HNF4A_uc002xly.2_Missense_Mutation_p.K290T|HNF4A_uc002xlz.2_Missense_Mutation_p.K290T|HNF4A_uc010ggq.2_Missense_Mutation_p.K283T	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	290					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|positive regulation of gene-specific transcription from RNA polymerase II promoter|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|promoter binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			Colon(79;2 1269 8820 14841 52347)								0.234375	132.281607	144.671586	45	147	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	43048493	43048493	7545	20	A	C	C	C	13	1	HNF4A	4	4
BIRC7	79444	broad.mit.edu	37	20	61870735	61870735	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr20:61870735G>T	uc002yej.2	+	c.675G>T	c.(673-675)CAG>CAT	p.Q225H	BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Intron	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	livin inhibitor of apoptosis isoform alpha	225					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			kidney(1)	1	all_cancers(38;2.72e-09)													0.529412	178.289592	178.376919	63	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	61870735	61870735	1464	20	G	T	T	T	425	33	BIRC7	2	2
POTED	317754	broad.mit.edu	37	21	14983042	14983042	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:14983042G>T	uc002yjb.1	+	c.493G>T	c.(493-495)GAC>TAC	p.D165Y		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	pote protein	165						plasma membrane				ovary(3)	3														0.145161	25.857394	40.89077	18	106	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	14983042	14983042	12693	21	G	T	T	T	585	45	POTED	2	2
ADAMTS5	11096	broad.mit.edu	37	21	28296491	28296491	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:28296491C>G	uc002ymg.2	-	c.2674G>C	c.(2674-2676)GAC>CAC	p.D892H		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	892	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						Esophageal Squamous(53;683 1080 10100 14424 45938)								0.262626	84.518901	89.555412	26	73	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	28296491	28296491	270	21	C	G	G	G	377	29	ADAMTS5	3	3
KRTAP13-3	337960	broad.mit.edu	37	21	31798219	31798219	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:31798219G>T	uc002yob.1	-	c.12C>A	c.(10-12)AAC>AAA	p.N4K		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	4						intermediate filament				ovary(1)|lung(1)	2														0.172727	37.172305	48.444749	19	91	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31798219	31798219	8839	21	G	T	T	T	464	36	KRTAP13-3	2	2
KRTAP11-1	337880	broad.mit.edu	37	21	32253670	32253670	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:32253670C>G	uc002yov.2	-	c.174G>C	c.(172-174)GAG>GAC	p.E58D		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	58						keratin filament	structural molecule activity			pancreas(1)	1														0.294737	87.943762	91.538073	28	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	32253670	32253670	8832	21	C	G	G	G	415	32	KRTAP11-1	3	3
SON	6651	broad.mit.edu	37	21	34922564	34922564	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34922564C>T	uc002yse.1	+	c.1027C>T	c.(1027-1029)CCT>TCT	p.P343S	SON_uc002ysb.1_Missense_Mutation_p.P343S|SON_uc002ysc.2_Missense_Mutation_p.P343S|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	343					anti-apoptosis	nuclear speck	DNA binding|double-stranded RNA binding			ovary(3)	3												OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0.326667	131.759768	135.738872	49	101	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34922564	34922564	15426	21	C	T	T	T	338	26	SON	2	2
SON	6651	broad.mit.edu	37	21	34923302	34923302	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:34923302G>T	uc002yse.1	+	c.1765G>T	c.(1765-1767)GTG>TTG	p.V589L	SON_uc002ysb.1_Missense_Mutation_p.V589L|SON_uc002ysc.2_Missense_Mutation_p.V589L|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	589					anti-apoptosis	nuclear speck	DNA binding|double-stranded RNA binding			ovary(3)	3														0.247059	55.331463	60.282016	21	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34923302	34923302	15426	21	G	T	T	T	624	48	SON	2	2
DOPEY2	9980	broad.mit.edu	37	21	37618548	37618548	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:37618548A>T	uc002yvg.2	+	c.4270A>T	c.(4270-4272)ATT>TTT	p.I1424F	DOPEY2_uc011aeb.1_Missense_Mutation_p.I1373F|DOPEY2_uc002yvh.2_Missense_Mutation_p.I275F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1424					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2														0.125	13.798418	24.78623	10	70	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	37618548	37618548	4892	21	A	T	T	T	104	8	DOPEY2	3	3
ETS2	2114	broad.mit.edu	37	21	40191577	40191577	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr21:40191577C>T	uc002yxf.2	+	c.1382C>T	c.(1381-1383)TCT>TTT	p.S461F	ETS2_uc002yxg.2_Missense_Mutation_p.S321F	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	321					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|pancreas(1)	3		Prostate(19;6.33e-08)|all_epithelial(19;0.123)												0.216216	19.178832	21.928774	8	29	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	40191577	40191577	5469	21	C	T	T	T	416	32	ETS2	2	2
CCT8L2	150160	broad.mit.edu	37	22	17072057	17072057	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17072057C>G	uc002zlp.1	-	c.1384G>C	c.(1384-1386)GAC>CAC	p.D462H		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	462					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.265918	224.000201	237.219677	71	196	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17072057	17072057	3088	22	C	G	G	G	416	32	CCT8L2	3	3
CCT8L2	150160	broad.mit.edu	37	22	17072155	17072155	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17072155C>T	uc002zlp.1	-	c.1286G>A	c.(1285-1287)AGA>AAA	p.R429K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	429					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.336134	115.049939	117.883378	40	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17072155	17072155	3088	22	C	T	T	T	416	32	CCT8L2	2	2
CCT8L2	150160	broad.mit.edu	37	22	17072228	17072228	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17072228C>G	uc002zlp.1	-	c.1213G>C	c.(1213-1215)GAT>CAT	p.D405H		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	405					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.361702	117.525104	119.107223	34	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17072228	17072228	3088	22	C	G	G	G	416	32	CCT8L2	3	3
CCT8L2	150160	broad.mit.edu	37	22	17072351	17072351	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17072351C>G	uc002zlp.1	-	c.1090G>C	c.(1090-1092)GAA>CAA	p.E364Q		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	364					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.246753	115.065716	124.064754	38	116	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17072351	17072351	3088	22	C	G	G	G	377	29	CCT8L2	3	3
CCT8L2	150160	broad.mit.edu	37	22	17072376	17072376	+	Silent	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17072376C>G	uc002zlp.1	-	c.1065G>C	c.(1063-1065)CTG>CTC	p.L355L		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	355					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.25	96.720957	105.813323	40	120	KEEP	---	---	---	---	capture		Silent	SNP	17072376	17072376	3088	22	C	G	G	G	262	21	CCT8L2	3	3
CCT8L2	150160	broad.mit.edu	37	22	17073279	17073279	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17073279G>T	uc002zlp.1	-	c.162C>A	c.(160-162)CAC>CAA	p.H54Q		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	54					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.280488	59.16808	62.73885	23	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17073279	17073279	3088	22	G	T	T	T	516	40	CCT8L2	1	1
CCT8L2	150160	broad.mit.edu	37	22	17073380	17073380	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17073380C>T	uc002zlp.1	-	c.61G>A	c.(61-63)GAG>AAG	p.E21K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	21					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.246154	38.985682	42.787416	16	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17073380	17073380	3088	22	C	T	T	T	390	30	CCT8L2	2	2
CCT8L2	150160	broad.mit.edu	37	22	17073395	17073395	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:17073395C>T	uc002zlp.1	-	c.46G>A	c.(46-48)GCA>ACA	p.A16T		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	16					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)												0.30303	46.859859	49.155188	20	46	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	17073395	17073395	3088	22	C	T	T	T	338	26	CCT8L2	2	2
MICAL3	57553	broad.mit.edu	37	22	18301671	18301671	+	Silent	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:18301671C>A	uc002zng.3	-	c.3756G>T	c.(3754-3756)ACG>ACT	p.T1252T	MICAL3_uc011agl.1_Silent_p.T1168T	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1252	Pro-rich.				oxidation-reduction process	cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)										0.483871	44.017785	44.024954	15	16	KEEP	---	---	---	---	capture		Silent	SNP	18301671	18301671	9961	22	C	A	A	A	340	27	MICAL3	1	1
APOBEC3F	200316	broad.mit.edu	37	22	39445556	39445556	+	Silent	SNP	C	G	G	rs34578066	by1000genomes	TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:39445556C>G	uc003aww.2	+	c.693C>G	c.(691-693)GTC>GTG	p.V231V		NM_145298	NP_660341	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	233					base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|positive regulation of defense response to virus by host|response to virus|transcription, RNA-dependent|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding				0	Melanoma(58;0.04)													0.139535	61.794659	88.784193	30	185	KEEP	---	---	---	---	capture		Silent	SNP	39445556	39445556	804	22	C	G	G	G	405	32	APOBEC3F	3	3
L3MBTL2	83746	broad.mit.edu	37	22	41615532	41615532	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:41615532A>T	uc003azo.2	+	c.710A>T	c.(709-711)CAG>CTG	p.Q237L	L3MBTL2_uc010gyi.1_Missense_Mutation_p.Q146L|L3MBTL2_uc003azn.2_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	237	MBT 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3														0.36	52.535644	53.398664	18	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41615532	41615532	8915	22	A	T	T	T	91	7	L3MBTL2	3	3
PARVB	29780	broad.mit.edu	37	22	44527413	44527413	+	Silent	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr22:44527413C>T	uc003bem.2	+	c.522C>T	c.(520-522)TCC>TCT	p.S174S	PARVB_uc003ben.2_Silent_p.S141S|PARVB_uc010gzn.2_Silent_p.S89S|PARVB_uc003beo.2_Silent_p.S104S	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	parvin, beta isoform a	141	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)												0.122807	8.907767	16.825659	7	50	KEEP	---	---	---	---	capture		Silent	SNP	44527413	44527413	11886	22	C	T	T	T	288	23	PARVB	1	1
SLC9A4	389015	broad.mit.edu	37	2	103095664	103095664	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:103095664C>T	uc002tbz.3	+	c.623C>T	c.(622-624)CCA>CTA	p.P208L		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	208	Helical; Name=F/M5A; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)	1														0.344828	28.944029	29.559362	10	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103095664	103095664	15213	2	C	T	T	T	273	21	SLC9A4	2	2
SULT1C3	442038	broad.mit.edu	37	2	108881745	108881745	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:108881745T>C	uc010ywo.1	+	c.853T>C	c.(853-855)TTT>CTT	p.F285L		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	285						cytoplasm	alcohol sulfotransferase activity				0														0.282051	73.319267	76.646437	22	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108881745	108881745	15898	2	T	C	C	C	676	52	SULT1C3	4	4
MAP3K2	10746	broad.mit.edu	37	2	128088066	128088066	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:128088066T>C	uc002toj.1	-	c.280A>G	c.(280-282)ACT>GCT	p.T94A	MAP3K2_uc010flz.1_Missense_Mutation_p.T94A	NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase	94	OPR.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)						211				0.166667	5.442793	6.706372	2	10	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	128088066	128088066	9633	2	T	C	C	C	780	60	MAP3K2	4	4
LRP1B	53353	broad.mit.edu	37	2	141812830	141812830	+	Splice_Site_SNP	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:141812830T>A	uc002tvj.1	-	c.1409_splice	c.e10-1	p.V470_splice	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027			low density lipoprotein-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|ovary(10)|pancreas(3)|central_nervous_system(2)|liver(1)|kidney(1)	34		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		Colon(99;50 2074 2507 20106)				2546	TSP Lung(27;0.18)			0.222222	14.438589	16.352984	6	21	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	141812830	141812830	9328	2	T	A	A	A	689	53	LRP1B	5	3
TPO	7173	broad.mit.edu	37	2	1426848	1426848	+	Silent	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:1426848C>A	uc002qww.2	+	c.126C>A	c.(124-126)GTC>GTA	p.V42V	TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Silent_p.V42V|TPO_uc002qwu.2_Silent_p.V42V|TPO_uc002qwr.2_Silent_p.V42V|TPO_uc002qwx.2_Silent_p.V42V|TPO_uc010yio.1_Silent_p.V42V|TPO_uc010yip.1_Silent_p.V42V	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	42	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(6)|pancreas(6)|skin(3)|lung(1)|kidney(1)	17	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)					723				0.27	61.167458	65.950364	27	73	KEEP	---	---	---	---	capture		Silent	SNP	1426848	1426848	16954	2	C	A	A	A	405	32	TPO	2	2
NEB	4703	broad.mit.edu	37	2	152522052	152522052	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:152522052T>A	uc010fnx.2	-	c.5033A>T	c.(5032-5034)AAT>ATT	p.N1678I		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1678	Nebulin 43.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(1)|skin(1)|pancreas(1)	19				BRCA - Breast invasive adenocarcinoma(221;0.219)										0.375	25.468129	25.797698	9	15	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	152522052	152522052	10701	2	T	A	A	A	676	52	NEB	3	3
SCN3A	6328	broad.mit.edu	37	2	165997321	165997321	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:165997321C>T	uc002ucx.2	-	c.1859G>A	c.(1858-1860)CGA>CAA	p.R620Q	SCN3A_uc002ucy.2_Missense_Mutation_p.R620Q|SCN3A_uc002ucz.2_Missense_Mutation_p.R620Q|SCN3A_uc002uda.1_Missense_Mutation_p.R489Q|SCN3A_uc002udb.1_Missense_Mutation_p.R489Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	620						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.264706	44.615819	48.021356	18	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	165997321	165997321	14400	2	C	T	T	T	403	31	SCN3A	1	1
OLA1	29789	broad.mit.edu	37	2	175111467	175111467	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:175111467C>A	uc002uih.2	-	c.77G>T	c.(76-78)GGT>GTT	p.G26V	OLA1_uc002uii.2_Intron|OLA1_uc010fqq.2_Missense_Mutation_p.G26V|OLA1_uc002uij.2_Intron|OLA1_uc002uik.2_5'UTR|OLA1_uc010fqr.2_Missense_Mutation_p.G26V	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1 isoform 1	26					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			ovary(1)|breast(1)	2														0.236641	78.258888	86.56371	31	100	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	175111467	175111467	11255	2	C	A	A	A	234	18	OLA1	2	2
TTN	7273	broad.mit.edu	37	2	179415733	179415733	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179415733A>T	uc010zfg.1	-	c.83821T>A	c.(83821-83823)TCA>ACA	p.S27941T	TTN_uc010zfh.1_Missense_Mutation_p.S21636T|TTN_uc010zfi.1_Missense_Mutation_p.S21569T|TTN_uc010zfj.1_Missense_Mutation_p.S21444T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	90										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				0.285714	20.586972	21.74175	8	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179415733	179415733	17290	2	A	T	T	T	143	11	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179422644	179422644	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179422644A>T	uc010zfg.1	-	c.79733T>A	c.(79732-79734)GTT>GAT	p.V26578D	TTN_uc010zfh.1_Missense_Mutation_p.V20273D|TTN_uc010zfi.1_Missense_Mutation_p.V20206D|TTN_uc010zfj.1_Missense_Mutation_p.V20081D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3346										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				0.147541	70.36573	106.777874	45	260	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179422644	179422644	17290	2	A	T	T	T	26	2	TTN	3	3
TTN	7273	broad.mit.edu	37	2	179474458	179474458	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:179474458C>A	uc010zfg.1	-	c.43988G>T	c.(43987-43989)AGT>ATT	p.S14663I	TTN_uc010zfh.1_Missense_Mutation_p.S8358I|TTN_uc010zfi.1_Missense_Mutation_p.S8291I|TTN_uc010zfj.1_Missense_Mutation_p.S8166I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	3230										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				0.273684	143.2119	151.983117	52	138	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179474458	179474458	17290	2	C	A	A	A	260	20	TTN	2	2
ADAM23	8745	broad.mit.edu	37	2	207437900	207437900	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:207437900G>T	uc002vbq.2	+	c.1718G>T	c.(1717-1719)TGT>TTT	p.C573F	ADAM23_uc010ziv.1_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	573	Disintegrin.|Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|skin(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		Melanoma(194;1127 2130 19620 24042 27855)								0.28125	176.817553	186.459318	63	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	207437900	207437900	246	2	G	T	T	T	624	48	ADAM23	2	2
APOB	338	broad.mit.edu	37	2	21233375	21233375	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:21233375G>T	uc002red.2	-	c.6365C>A	c.(6364-6366)GCT>GAT	p.A2122D		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2122	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus|very-low-density lipoprotein particle assembly	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|central_nervous_system(3)|large_intestine(2)|pancreas(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)									0.47619	59.194305	59.215216	20	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	21233375	21233375	796	2	G	T	T	T	442	34	APOB	2	2
ZNF142	7701	broad.mit.edu	37	2	219503486	219503486	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219503486C>A	uc002vin.2	-	c.4640G>T	c.(4639-4641)CGG>CTG	p.R1547L	ZNF142_uc002vil.2_Missense_Mutation_p.R1508L|ZNF142_uc010fvt.2_Missense_Mutation_p.R1384L|ZNF142_uc002vim.2_Missense_Mutation_p.R1384L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	1547	C2H2-type 28.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		Colon(170;867 1942 8995 15834 18053)								0.272727	32.682031	34.729564	12	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219503486	219503486	18322	2	C	A	A	A	299	23	ZNF142	1	1
STK36	27148	broad.mit.edu	37	2	219562210	219562210	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219562210C>T	uc002viu.2	+	c.2786C>T	c.(2785-2787)GCC>GTC	p.A929V	STK36_uc002viv.2_Missense_Mutation_p.A908V|STK36_uc002viw.2_Missense_Mutation_p.A107V|STK36_uc002vix.2_5'UTR	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	929					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development|protein phosphorylation	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)	8		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)						551				0.217949	34.340216	40.057743	17	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219562210	219562210	15822	2	C	T	T	T	338	26	STK36	2	2
STK36	27148	broad.mit.edu	37	2	219563440	219563440	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:219563440C>T	uc002viu.2	+	c.3173C>T	c.(3172-3174)TCC>TTC	p.S1058F	STK36_uc002viv.2_Missense_Mutation_p.S1037F|STK36_uc002viw.2_Missense_Mutation_p.S236F|STK36_uc002vix.2_Missense_Mutation_p.S103F	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1058					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development|protein phosphorylation	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|transcription factor binding			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)	8		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)						551				0.29	301.832635	317.645141	116	284	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	219563440	219563440	15822	2	C	T	T	T	390	30	STK36	2	2
ACCN4	55515	broad.mit.edu	37	2	220379514	220379514	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:220379514C>A	uc002vlz.2	+	c.449C>A	c.(448-450)GCA>GAA	p.A150E	ACCN4_uc010fwi.1_Missense_Mutation_p.A150E|ACCN4_uc010fwj.1_Missense_Mutation_p.A150E|ACCN4_uc002vly.1_Missense_Mutation_p.A150E|ACCN4_uc002vma.2_Missense_Mutation_p.A150E|ACCN4_uc002vmb.2_5'Flank	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	amiloride-sensitive cation channel 4 isoform 1	150	Cytoplasmic (Potential).					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity			ovary(2)	2		Renal(207;0.0183)		Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156)										0.245098	117.692522	129.823977	50	154	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	220379514	220379514	132	2	C	A	A	A	325	25	ACCN4	2	2
CUL3	8452	broad.mit.edu	37	2	225376300	225376300	+	Splice_Site_SNP	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:225376300C>T	uc010fwy.1	-	c.673_splice	c.e6-1	p.M225_splice	CUL3_uc002vny.2_Splice_Site_SNP_p.M219_splice|CUL3_uc010zls.1_Splice_Site_SNP_p.M153_splice	NM_003590	NP_003581			cullin 3						cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			ovary(1)|liver(1)|kidney(1)	3		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)										0.354167	52.160259	53.060494	17	31	KEEP	---	---	---	---	capture		Splice_Site_SNP	SNP	225376300	225376300	4216	2	C	T	T	T	416	32	CUL3	5	2
DIS3L2	129563	broad.mit.edu	37	2	233075098	233075098	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:233075098G>T	uc010fxz.2	+	c.1187G>T	c.(1186-1188)TGC>TTC	p.C396F	DIS3L2_uc002vsm.3_Non-coding_Transcript|DIS3L2_uc002vso.2_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	396							exonuclease activity|ribonuclease activity|RNA binding			breast(1)|central_nervous_system(1)	2		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)										0.25	40.652437	45.01459	19	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	233075098	233075098	4716	2	G	T	T	T	598	46	DIS3L2	2	2
EIF2B4	8890	broad.mit.edu	37	2	27590037	27590037	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:27590037C>A	uc002rjz.2	-	c.977G>T	c.(976-978)CGG>CTG	p.R326L	EIF2B4_uc002rka.2_Missense_Mutation_p.R291L|EIF2B4_uc002rkb.2_Missense_Mutation_p.R306L|EIF2B4_uc002rkc.2_Missense_Mutation_p.R305L|EIF2B4_uc002rkd.2_Missense_Mutation_p.R100L|EIF2B4_uc002rke.2_Missense_Mutation_p.R275L|EIF2B4_uc002rkf.1_3'UTR	NM_172195	NP_751945	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	306			R -> G.		myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.284585	201.093919	211.633671	72	181	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	27590037	27590037	5192	2	C	A	A	A	299	23	EIF2B4	1	1
NRXN1	9378	broad.mit.edu	37	2	50318616	50318616	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:50318616C>A	uc010fbq.2	-	c.3683G>T	c.(3682-3684)GGA>GTA	p.G1228V	NRXN1_uc010fbp.2_Missense_Mutation_p.G153V|NRXN1_uc002rxb.3_Missense_Mutation_p.G860V|NRXN1_uc002rxe.3_Missense_Mutation_p.G1188V	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	153	Extracellular (Potential).|Laminin G-like.				neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)											0.27451	65.448592	70.125633	28	74	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	50318616	50318616	11070	2	C	A	A	A	390	30	NRXN1	2	2
PPP3R1	5534	broad.mit.edu	37	2	68413773	68413773	+	Missense_Mutation	SNP	T	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:68413773T>C	uc002sei.1	-	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_000945	NP_000936	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B,	98	EF-hand 3.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding				0					Pimecrolimus(DB00337)					75				0.388889	24.32301	24.516989	7	11	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68413773	68413773	12836	2	T	C	C	C	637	49	PPP3R1	4	4
PLEK	5341	broad.mit.edu	37	2	68607985	68607985	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr2:68607985C>A	uc002sen.3	+	c.329C>A	c.(328-330)GCC>GAC	p.A110D	PLEK_uc010fde.2_Missense_Mutation_p.A110D	NM_002664	NP_002655	P08567	PLEK_HUMAN	pleckstrin	110					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			ovary(1)	1		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)										0.308219	237.018007	246.60445	90	202	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	68607985	68607985	12479	2	C	A	A	A	338	26	PLEK	2	2
ABI3BP	25890	broad.mit.edu	37	3	100498978	100498978	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100498978G>T	uc003dun.2	-	c.2105C>A	c.(2104-2106)CCA>CAA	p.P702Q	ABI3BP_uc003duj.2_Missense_Mutation_p.P282Q|ABI3BP_uc003duk.2_Missense_Mutation_p.P411Q|ABI3BP_uc003dul.2_Missense_Mutation_p.P532Q|ABI3BP_uc011bhd.1_Missense_Mutation_p.P656Q|ABI3BP_uc003dum.2_Missense_Mutation_p.P113Q	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	702	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)	3														0.119403	9.147628	18.678766	8	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100498978	100498978	92	3	G	T	T	T	611	47	ABI3BP	2	2
IMPG2	50939	broad.mit.edu	37	3	100963143	100963143	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:100963143C>A	uc003duq.1	-	c.2032G>T	c.(2032-2034)GAG>TAG	p.E678*	IMPG2_uc011bhe.1_Nonsense_Mutation_p.E541*	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	678	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3														0.404762	44.567385	44.899733	17	25	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	100963143	100963143	8030	3	C	A	A	A	416	32	IMPG2	5	2
MYH15	22989	broad.mit.edu	37	3	108159970	108159970	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:108159970C>A	uc003dxa.1	-	c.2853G>T	c.(2851-2853)AGG>AGT	p.R951S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	951	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7														0.196581	47.351057	57.394036	23	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108159970	108159970	10429	3	C	A	A	A	285	22	MYH15	2	2
ARHGAP31	57514	broad.mit.edu	37	3	119134364	119134364	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:119134364G>T	uc003ecj.3	+	c.3588G>T	c.(3586-3588)CAG>CAT	p.Q1196H		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	1196					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						Pancreas(7;176 297 5394 51128 51241)								0.133333	17.040694	28.783604	12	78	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119134364	119134364	892	3	G	T	T	T	451	35	ARHGAP31	2	2
POLQ	10721	broad.mit.edu	37	3	121206886	121206886	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:121206886C>G	uc003eee.3	-	c.4892G>C	c.(4891-4893)TGG>TCG	p.W1631S	POLQ_uc003eed.2_Missense_Mutation_p.W803S	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1631					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5				GBM - Glioblastoma multiforme(114;0.0915)		Pancreas(152;907 1925 26081 31236 36904)								0.277778	136.632396	144.661259	50	130	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	121206886	121206886	12636	3	C	G	G	G	273	21	POLQ	3	3
PARP14	54625	broad.mit.edu	37	3	122420301	122420301	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:122420301T>A	uc003efq.3	+	c.2900T>A	c.(2899-2901)GTT>GAT	p.V967D	PARP14_uc010hrk.2_Non-coding_Transcript|PARP14_uc003efr.2_Missense_Mutation_p.V684D|PARP14_uc003efs.1_Missense_Mutation_p.V684D	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	967	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.0531)										0.2	17.677329	21.025504	8	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	122420301	122420301	11875	3	T	A	A	A	780	60	PARP14	3	3
RASA2	5922	broad.mit.edu	37	3	141327427	141327427	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:141327427C>T	uc010huq.1	+	c.2125C>T	c.(2125-2127)CGA>TGA	p.R709*	RASA2_uc003etz.1_Nonsense_Mutation_p.R705*|RASA2_uc003eua.1_Nonsense_Mutation_p.R706*	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	705	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(1)	3														0.157895	10.444992	14.670976	6	32	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	141327427	141327427	13521	3	C	T	T	T	295	23	RASA2	5	1
ZBBX	79740	broad.mit.edu	37	3	167068302	167068302	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167068302A>T	uc011bpc.1	-	c.434T>A	c.(433-435)GTA>GAA	p.V145E	ZBBX_uc003fep.2_Missense_Mutation_p.V145E|ZBBX_uc003feq.2_Missense_Mutation_p.V116E	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	145	B box-type; atypical.					intracellular	zinc ion binding			ovary(2)	2														0.347826	45.288666	46.227671	16	30	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167068302	167068302	18100	3	A	T	T	T	182	14	ZBBX	3	3
ZBBX	79740	broad.mit.edu	37	3	167086333	167086333	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:167086333A>T	uc011bpc.1	-	c.98T>A	c.(97-99)GTA>GAA	p.V33E	ZBBX_uc003fep.2_Missense_Mutation_p.V33E|ZBBX_uc003feq.2_Missense_Mutation_p.V4E	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	33	Potential.					intracellular	zinc ion binding			ovary(2)	2														0.405405	41.315675	41.605359	15	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167086333	167086333	18100	3	A	T	T	T	182	14	ZBBX	3	3
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	A	A	rs104886003		TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:178936091G>A	uc003fjk.2	+	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545			E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(713)|p.E545?(19)|p.E545Q(11)|p.E545D(1)|p.E545G(1)|p.E545A(1)		breast(1506)|large_intestine(749)|endometrium(244)|urinary_tract(195)|ovary(136)|skin(112)|stomach(89)|thyroid(77)|central_nervous_system(69)|lung(61)|upper_aerodigestive_tract(48)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|kidney(2)|prostate(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3437	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			Colon(199;1504 1750 3362 26421 31210 32040)	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	p.E545K(NCIH508-Tumor)|p.E545K(L363-Tumor)|p.E545K(KYSE510-Tumor)|p.E545K(MKN1-Tumor)|p.E545K(BFTC909-Tumor)|p.E545K(NCIH460-Tumor)|p.E545K(HCC202-Tumor)|p.E545K(KPL1-Tumor)|p.E545K(NCIH596-Tumor)|p.E545K(HUH28-Tumor)|p.E545K(MDAMB361-Tumor)|p.E545K(ESS1-Tumor)|p.E545K(TE5-Tumor)|p.E545K(HSC4-Tumor)|p.E545K(RERFLCSQ1-Tumor)	621	TCGA GBM(8;5.49e-07)			0.25	10.191652	11.101074	4	12	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	178936091	178936091	12337	3	G	A	A	A	585	45	PIK3CA	2	2
YEATS2	55689	broad.mit.edu	37	3	183432964	183432964	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:183432964A>T	uc003fly.2	+	c.14A>T	c.(13-15)AAG>ATG	p.K5M		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	5					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)											0.44186	111.535285	111.789054	38	48	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183432964	183432964	18055	3	A	T	T	T	39	3	YEATS2	3	3
OSTalpha	200931	broad.mit.edu	37	3	195953990	195953990	+	Silent	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:195953990G>A	uc003fwd.2	+	c.288G>A	c.(286-288)ACG>ACA	p.T96T	OSTalpha_uc011btu.1_Silent_p.T96T|OSTalpha_uc010iac.1_5'Flank|OSTalpha_uc003fwe.2_5'Flank	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	organic solute transporter alpha	96	Helical; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(1)	1	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)										0.169355	45.101966	57.928974	21	103	KEEP	---	---	---	---	capture		Silent	SNP	195953990	195953990	11712	3	G	A	A	A	496	39	OSTalpha	1	1
DAG1	1605	broad.mit.edu	37	3	49569641	49569641	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:49569641A>G	uc003cxc.3	+	c.1697A>G	c.(1696-1698)GAC>GGC	p.D566G		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	566	Peptidase S72.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)										0.188406	33.339173	39.605001	13	56	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	49569641	49569641	4392	3	A	G	G	G	130	10	DAG1	4	4
DOCK3	1795	broad.mit.edu	37	3	51392314	51392314	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:51392314A>G	uc011bds.1	+	c.4109A>G	c.(4108-4110)AAC>AGC	p.N1370S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1370	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)						1034				0.277512	184.082795	193.377459	58	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	51392314	51392314	4872	3	A	G	G	G	26	2	DOCK3	4	4
STAB1	23166	broad.mit.edu	37	3	52553536	52553536	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:52553536G>A	uc003dej.2	+	c.5191G>A	c.(5191-5193)GCC>ACC	p.A1731T	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1731	Extracellular (Potential).|FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|pancreas(1)|breast(1)|central_nervous_system(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)										0.154545	24.107868	36.67204	17	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52553536	52553536	15755	3	G	A	A	A	494	38	STAB1	1	1
ROBO2	6092	broad.mit.edu	37	3	77595510	77595510	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77595510G>A	uc003dpz.2	+	c.968G>A	c.(967-969)CGG>CAG	p.R323Q	ROBO2_uc003dpy.3_Missense_Mutation_p.R319Q|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Missense_Mutation_p.R323Q	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	319	Ig-like C2-type 4.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|ovary(1)|large_intestine(1)|liver(1)	8				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)						1049				0.196262	44.912521	54.115139	21	86	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	77595510	77595510	13993	3	G	A	A	A	507	39	ROBO2	1	1
ROBO2	6092	broad.mit.edu	37	3	77612382	77612382	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:77612382G>T	uc003dpz.2	+	c.1596G>T	c.(1594-1596)CCG>CCT	p.P532P	ROBO2_uc003dpy.3_Silent_p.P528P|ROBO2_uc011bgj.1_Non-coding_Transcript|ROBO2_uc011bgk.1_Silent_p.P532P	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	528	Extracellular (Potential).|Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|ovary(1)|large_intestine(1)|liver(1)	8				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)						1049				0.297872	40.735005	42.449588	14	33	KEEP	---	---	---	---	capture		Silent	SNP	77612382	77612382	13993	3	G	T	T	T	483	38	ROBO2	1	1
CFI	3426	broad.mit.edu	37	4	110687980	110687980	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:110687980C>G	uc011cft.1	-	c.58G>C	c.(58-60)GTC>CTC	p.V20L	CFI_uc003hzr.3_Missense_Mutation_p.V20L|CFI_uc003hzs.3_Missense_Mutation_p.V20L	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	20					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)						317				0.126984	15.855637	24.404392	8	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110687980	110687980	3422	4	C	G	G	G	234	18	CFI	3	3
ALPK1	80216	broad.mit.edu	37	4	113356422	113356422	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:113356422G>T	uc003iap.3	+	c.3153G>T	c.(3151-3153)TGG>TGT	p.W1051C	ALPK1_uc003ian.3_Missense_Mutation_p.W1051C|ALPK1_uc011cfx.1_Missense_Mutation_p.W973C|ALPK1_uc003iao.3_Non-coding_Transcript|ALPK1_uc010imo.2_Missense_Mutation_p.W879C	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1051	Alpha-type protein kinase.				protein phosphorylation		ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)						252				0.348624	216.015681	220.432457	76	142	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113356422	113356422	547	4	G	T	T	T	559	43	ALPK1	2	2
FAT4	79633	broad.mit.edu	37	4	126239750	126239750	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:126239750A>G	uc003ifj.3	+	c.2184A>G	c.(2182-2184)ATA>ATG	p.I728M		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	728	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(8)|pancreas(2)	10														0.178571	49.837688	60.724175	20	92	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	126239750	126239750	5928	4	A	G	G	G	202	16	FAT4	4	4
LRBA	987	broad.mit.edu	37	4	151773298	151773298	+	Silent	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:151773298T>A	uc010ipj.2	-	c.3564A>T	c.(3562-3564)TCA>TCT	p.S1188S	LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Silent_p.S1188S	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1188						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)	6	all_hematologic(180;0.151)													0.276923	48.927004	51.835032	18	47	KEEP	---	---	---	---	capture		Silent	SNP	151773298	151773298	9304	4	T	A	A	A	704	55	LRBA	3	3
FHDC1	85462	broad.mit.edu	37	4	153864685	153864685	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:153864685C>T	uc003inf.2	+	c.476C>T	c.(475-477)TCC>TTC	p.S159F		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	159	FH2.				actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)													0.184211	43.708694	54.373208	21	93	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	153864685	153864685	6114	4	C	T	T	T	390	30	FHDC1	2	2
SPOCK3	50859	broad.mit.edu	37	4	167656177	167656177	+	Silent	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:167656177C>T	uc011cjq.1	-	c.1233G>A	c.(1231-1233)GAG>GAA	p.E411E	SPOCK3_uc011cjp.1_Silent_p.E359E|SPOCK3_uc011cjr.1_Silent_p.E282E|SPOCK3_uc003iri.1_Silent_p.E402E|SPOCK3_uc003irj.1_Silent_p.E399E|SPOCK3_uc011cjs.1_Silent_p.E351E|SPOCK3_uc011cjt.1_Silent_p.E310E|SPOCK3_uc011cju.1_Silent_p.E295E|SPOCK3_uc011cjv.1_Silent_p.E304E	NM_001040159	NP_001035249	Q9BQ16	TICN3_HUMAN	testican 3 isoform 1	402	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)										0.4	12.19781	12.285326	4	6	KEEP	---	---	---	---	capture		Silent	SNP	167656177	167656177	15594	4	C	T	T	T	311	24	SPOCK3	2	2
DCAF16	54876	broad.mit.edu	37	4	17805366	17805366	+	Silent	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:17805366C>A	uc003gpn.2	-	c.399G>T	c.(397-399)CGG>CGT	p.R133R	DCAF16_uc003gpo.2_Non-coding_Transcript	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	133					protein ubiquitination	CUL4 RING ubiquitin ligase complex				ovary(1)	1														0.342466	200.435775	205.248213	75	144	KEEP	---	---	---	---	capture		Silent	SNP	17805366	17805366	4439	4	C	A	A	A	327	26	DCAF16	2	2
ODZ3	55714	broad.mit.edu	37	4	183676073	183676073	+	Missense_Mutation	SNP	A	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:183676073A>C	uc003ivd.1	+	c.4553A>C	c.(4552-4554)GAT>GCT	p.D1518A	ODZ3_uc003ive.1_Missense_Mutation_p.D931A	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1518	Extracellular (Potential).|YD 1.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)										0.25974	65.16976	69.190728	20	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	183676073	183676073	11241	4	A	C	C	C	156	12	ODZ3	4	4
PCDH7	5099	broad.mit.edu	37	4	31144129	31144129	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:31144129G>T	uc011bxx.1	+	c.3402G>T	c.(3400-3402)GGG>GGT	p.G1134G	PCDH7_uc011bxw.1_Silent_p.G1087G	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	Error:Variant_position_missing_in_O60245_after_alignment					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4														0.181818	38.768806	50.287852	22	99	KEEP	---	---	---	---	capture		Silent	SNP	31144129	31144129	11936	4	G	T	T	T	522	41	PCDH7	2	2
KLB	152831	broad.mit.edu	37	4	39408690	39408691	+	Missense_Mutation	DNP	CT	AA	AA			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:39408690_39408691CT>AA	uc003gua.2	+	c.121_122CT>AA	c.(121-123)CTG>AAG	p.L41K	KLB_uc011byj.1_Missense_Mutation_p.L41K	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	41	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1														0.236364	62.687709	69.682282	26	84	KEEP	---	---	---	---	capture		Missense_Mutation	DNP	39408690	39408691	8644	4	CT	AA	AA	AA	311	24	KLB	2	2
ATP10D	57205	broad.mit.edu	37	4	47556801	47556801	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:47556801G>T	uc003gxk.1	+	c.1694G>T	c.(1693-1695)CGG>CTG	p.R565L	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	565	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3														0.210084	59.815027	69.06568	25	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	47556801	47556801	1137	4	G	T	T	T	507	39	ATP10D	1	1
LPHN3	23284	broad.mit.edu	37	4	62598544	62598544	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:62598544G>T	uc010ihh.2	+	c.467G>T	c.(466-468)GGG>GTG	p.G156V	LPHN3_uc003hcq.3_Missense_Mutation_p.G156V|LPHN3_uc010ihg.1_Missense_Mutation_p.G224V|LPHN3_uc003hcs.1_5'UTR	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	156	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3														0.555556	14.975112	14.999178	5	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	62598544	62598544	9290	4	G	T	T	T	559	43	LPHN3	2	2
PDE6B	5158	broad.mit.edu	37	4	647926	647926	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:647926C>A	uc003gap.2	+	c.910C>A	c.(910-912)CGC>AGC	p.R304S	PDE6B_uc003gao.3_Missense_Mutation_p.R304S|PDE6B_uc011buy.1_Missense_Mutation_p.R25S|PDE6B_uc010ibg.2_Missense_Mutation_p.R25S	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	304	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GBM(71;463 1194 9848 25922 46834)								0.3	56.348214	58.850426	21	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	647926	647926	12067	4	C	A	A	A	247	19	PDE6B	1	1
GC	2638	broad.mit.edu	37	4	72631270	72631270	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:72631270C>A	uc010iif.2	-	c.409G>T	c.(409-411)GAA>TAA	p.E137*	GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Nonsense_Mutation_p.E118*|GC_uc003hge.2_Nonsense_Mutation_p.E118*	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	118	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)									0.271845	66.567321	71.394284	28	75	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72631270	72631270	6548	4	C	A	A	A	390	30	GC	5	2
HELQ	113510	broad.mit.edu	37	4	84348734	84348734	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr4:84348734C>A	uc003hom.2	-	c.2658G>T	c.(2656-2658)TGG>TGT	p.W886C	HELQ_uc010ikb.2_Missense_Mutation_p.W819C|HELQ_uc003hol.3_Non-coding_Transcript|HELQ_uc010ikc.2_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	886							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)	2														0.293578	81.1501	85.311678	32	77	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	84348734	84348734	7330	4	C	A	A	A	390	30	HELQ	2	2
PCDHA2	56146	broad.mit.edu	37	5	140176000	140176000	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140176000C>A	uc003lhd.2	+	c.1451C>A	c.(1450-1452)GCG>GAG	p.A484E	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A484E|PCDHA2_uc011czy.1_Missense_Mutation_p.A484E	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	484	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.255639	80.922401	88.106982	34	99	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140176000	140176000	11944	5	C	A	A	A	351	27	PCDHA2	1	1
PCDHA12	56137	broad.mit.edu	37	5	140256796	140256796	+	Nonsense_Mutation	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140256796T>A	uc003lic.2	+	c.1739T>A	c.(1738-1740)TTG>TAG	p.L580*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Nonsense_Mutation_p.L580*	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	580	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			Pancreas(113;759 1672 13322 24104 50104)								0.314103	135.92268	140.717844	49	107	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	140256796	140256796	11942	5	T	A	A	A	819	63	PCDHA12	5	3
PCDHB16	57717	broad.mit.edu	37	5	140564342	140564342	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140564342G>T	uc003liv.2	+	c.2208G>T	c.(2206-2208)CTG>CTT	p.L736L	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	736	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)											0.191919	77.124641	94.689929	38	160	KEEP	---	---	---	---	capture		Silent	SNP	140564342	140564342	11961	5	G	T	T	T	600	47	PCDHB16	2	2
PCDHGA10	56106	broad.mit.edu	37	5	140793377	140793377	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140793377A>G	uc003lkl.1	+	c.635A>G	c.(634-636)CAC>CGC	p.H212R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.H212R	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	212	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.315789	83.614799	86.483433	30	65	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140793377	140793377	11971	5	A	G	G	G	78	6	PCDHGA10	4	4
PCDHGB7	56099	broad.mit.edu	37	5	140797646	140797646	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:140797646C>A	uc003lkn.1	+	c.220C>A	c.(220-222)CAC>AAC	p.H74N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.H74N|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	74	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.296	95.734023	100.382668	37	88	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140797646	140797646	11988	5	C	A	A	A	325	25	PCDHGB7	2	2
FBXO38	81545	broad.mit.edu	37	5	147796641	147796641	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:147796641G>T	uc003lpf.1	+	c.1492G>T	c.(1492-1494)GAT>TAT	p.D498Y	FBXO38_uc003lpg.1_Missense_Mutation_p.D498Y|FBXO38_uc003lph.2_Missense_Mutation_p.D498Y	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	498				D -> E (in Ref. 1; AAH33454).		cytoplasm|nucleus				ovary(4)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)											0.242424	20.083578	22.080104	8	25	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	147796641	147796641	5983	5	G	T	T	T	481	37	FBXO38	1	1
CSF1R	1436	broad.mit.edu	37	5	149435795	149435795	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:149435795A>G	uc003lrl.2	-	c.2429T>C	c.(2428-2430)ATT>ACT	p.I810T	CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_Non-coding_Transcript|CSF1R_uc003lrm.2_Missense_Mutation_p.I810T	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	810	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|multicellular organismal development|protein phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)					592				0.408377	269.324514	270.72191	78	113	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	149435795	149435795	4073	5	A	G	G	G	52	4	CSF1R	4	4
ODZ2	57451	broad.mit.edu	37	5	167674480	167674480	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:167674480A>G	uc010jjd.2	+	c.6509A>G	c.(6508-6510)TAT>TGT	p.Y2170C	ODZ2_uc003lzr.3_Missense_Mutation_p.Y1940C|ODZ2_uc003lzt.3_Missense_Mutation_p.Y1543C|ODZ2_uc010jje.2_Missense_Mutation_p.Y1434C	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)										0.252632	71.964894	77.236255	24	71	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	167674480	167674480	11240	5	A	G	G	G	208	16	ODZ2	4	4
CANX	821	broad.mit.edu	37	5	179149988	179149988	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:179149988G>T	uc011dgp.1	+	c.1471G>T	c.(1471-1473)GGC>TGC	p.G491C	CANX_uc003mkk.2_Missense_Mutation_p.G456C|CANX_uc003mkl.2_Missense_Mutation_p.G456C|CANX_uc011dgq.1_Missense_Mutation_p.G348C	NM_001746	NP_001737	P27824	CALX_HUMAN	calnexin precursor	456	Lumenal (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding				0	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)									0.145695	32.093172	50.294177	22	129	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	179149988	179149988	2735	5	G	T	T	T	559	43	CANX	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33577084	33577084	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33577084G>T	uc003jia.1	-	c.3047C>A	c.(3046-3048)CCA>CAA	p.P1016Q	ADAMTS12_uc010iuq.1_Missense_Mutation_p.P931Q	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1016	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.164021	58.098051	78.366658	31	158	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	33577084	33577084	258	5	G	T	T	T	611	47	ADAMTS12	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33683976	33683976	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:33683976G>T	uc003jia.1	-	c.819C>A	c.(817-819)ACC>ACA	p.T273T	ADAMTS12_uc010iuq.1_Silent_p.T273T	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	273	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|lung(1)|kidney(1)|skin(1)	7														0.297619	66.138184	69.216494	25	59	KEEP	---	---	---	---	capture		Silent	SNP	33683976	33683976	258	5	G	T	T	T	600	47	ADAMTS12	2	2
HEATR7B2	133558	broad.mit.edu	37	5	41004553	41004553	+	Silent	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:41004553A>G	uc003jmj.3	-	c.4089T>C	c.(4087-4089)TGT>TGC	p.C1363C	HEATR7B2_uc003jmi.3_Silent_p.C918C	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1363	HEAT 15.						binding			ovary(6)|central_nervous_system(2)	8														0.260163	96.350443	102.751506	32	91	KEEP	---	---	---	---	capture		Silent	SNP	41004553	41004553	7318	5	A	G	G	G	76	6	HEATR7B2	4	4
EXOC3	11336	broad.mit.edu	37	5	454086	454086	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:454086G>T	uc003jba.2	+	c.966G>T	c.(964-966)CGG>CGT	p.R322R		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Sec6 protein	333					exocytosis|protein transport						0		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)											0.136364	7.417632	13.055006	6	38	KEEP	---	---	---	---	capture		Silent	SNP	454086	454086	5496	5	G	T	T	T	522	41	EXOC3	2	2
ITGA2	3673	broad.mit.edu	37	5	52360751	52360751	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52360751G>T	uc003joy.2	+	c.1612G>T	c.(1612-1614)GGT>TGT	p.G538C	ITGA2_uc011cqa.1_Non-coding_Transcript|ITGA2_uc011cqb.1_Non-coding_Transcript|ITGA2_uc011cqc.1_Missense_Mutation_p.G462C|ITGA2_uc011cqd.1_Non-coding_Transcript|ITGA2_uc011cqe.1_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	538	FG-GAP 5.|Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)												0.308824	53.553274	55.766276	21	47	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	52360751	52360751	8179	5	G	T	T	T	559	43	ITGA2	2	2
FST	10468	broad.mit.edu	37	5	52778792	52778792	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:52778792C>A	uc003jpd.2	+	c.168C>A	c.(166-168)TGC>TGA	p.C56*	FST_uc003jpc.2_Nonsense_Mutation_p.C56*	NM_013409	NP_037541	P19883	FST_HUMAN	follistatin isoform FST344 precursor	56	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity				0		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)										OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.358209	62.962078	64.156042	24	43	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	52778792	52778792	6327	5	C	A	A	A	324	25	FST	5	2
SV2C	22987	broad.mit.edu	37	5	75427939	75427939	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:75427939G>T	uc003kei.1	+	c.364G>T	c.(364-366)GAG>TAG	p.E122*		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	122	Cytoplasmic (Potential).				neurotransmitter transport|transmembrane transport	cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)										0.351852	47.602522	48.650499	19	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	75427939	75427939	15939	5	G	T	T	T	533	41	SV2C	5	2
THBS4	7060	broad.mit.edu	37	5	79375018	79375018	+	Silent	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:79375018G>A	uc003kgh.2	+	c.2448G>A	c.(2446-2448)ACG>ACA	p.T816T		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	816	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)										0.131579	13.013373	23.028292	10	66	KEEP	---	---	---	---	capture		Silent	SNP	79375018	79375018	16384	5	G	A	A	A	496	39	THBS4	1	1
TTC37	9652	broad.mit.edu	37	5	94863722	94863722	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr5:94863722C>A	uc003klb.2	-	c.1129G>T	c.(1129-1131)GAT>TAT	p.D377Y	TTC37_uc010jbf.1_Missense_Mutation_p.D329Y	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	377							binding			ovary(3)|pancreas(1)	4														0.304348	17.615471	18.401637	7	16	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	94863722	94863722	17260	5	C	A	A	A	377	29	TTC37	2	2
POPDC3	64208	broad.mit.edu	37	6	105609367	105609367	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:105609367T>G	uc003prb.2	-	c.418A>C	c.(418-420)AAG>CAG	p.K140Q	POPDC3_uc003pra.2_Intron	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	140						integral to membrane				ovary(2)|skin(1)	3		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)												0.271357	169.168739	178.544825	54	145	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	105609367	105609367	12685	6	T	G	G	G	832	64	POPDC3	4	4
LAMA2	3908	broad.mit.edu	37	6	129649532	129649532	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:129649532G>T	uc003qbn.2	+	c.4286G>T	c.(4285-4287)TGT>TTT	p.C1429F	LAMA2_uc003qbo.2_Missense_Mutation_p.C1429F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1429	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)										0.327957	176.905229	181.790308	61	125	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	129649532	129649532	8929	6	G	T	T	T	624	48	LAMA2	2	2
UTRN	7402	broad.mit.edu	37	6	144844318	144844318	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:144844318G>T	uc003qkt.2	+	c.5900G>T	c.(5899-5901)CGG>CTG	p.R1967L		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1967	Spectrin 13.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(3)|pancreas(1)	4		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)										0.418182	71.114824	71.436442	23	32	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	144844318	144844318	17668	6	G	T	T	T	507	39	UTRN	1	1
GRM1	2911	broad.mit.edu	37	6	146720730	146720730	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:146720730C>A	uc010khw.1	+	c.2555C>A	c.(2554-2556)ACC>AAC	p.T852N	GRM1_uc010khv.1_Missense_Mutation_p.T852N|GRM1_uc003qll.2_Missense_Mutation_p.T852N|GRM1_uc011edz.1_Missense_Mutation_p.T852N|GRM1_uc011eea.1_Missense_Mutation_p.T852N	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	852	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(4)|central_nervous_system(3)|large_intestine(2)	9		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)									0.25	44.114101	48.205873	18	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	146720730	146720730	7075	6	C	A	A	A	234	18	GRM1	2	2
PLG	5340	broad.mit.edu	37	6	161135878	161135878	+	Silent	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:161135878C>A	uc003qtm.3	+	c.600C>A	c.(598-600)ACC>ACA	p.T200T		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	200	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)									0.366197	74.828353	75.947276	26	45	KEEP	---	---	---	---	capture		Silent	SNP	161135878	161135878	12512	6	C	A	A	A	262	21	PLG	2	2
TTLL2	83887	broad.mit.edu	37	6	167753913	167753913	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:167753913C>A	uc003qvs.1	+	c.525C>A	c.(523-525)TAC>TAA	p.Y175*	TTLL2_uc011egr.1_Non-coding_Transcript	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	175	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			ovary(1)|central_nervous_system(1)	2		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)										0.32	137.745167	142.064198	48	102	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	167753913	167753913	17282	6	C	A	A	A	233	18	TTLL2	5	2
THBS2	7058	broad.mit.edu	37	6	169648860	169648860	+	Silent	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:169648860C>A	uc003qwt.2	-	c.261G>T	c.(259-261)ACG>ACT	p.T87T		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	87	TSP N-terminal.|Heparin-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(4)	4		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		Esophageal Squamous(91;219 1934 18562 44706)								0.229885	95.506314	107.151572	40	134	KEEP	---	---	---	---	capture		Silent	SNP	169648860	169648860	16382	6	C	A	A	A	288	23	THBS2	1	1
GABBR1	2550	broad.mit.edu	37	6	29574725	29574725	+	Silent	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:29574725G>A	uc003nmt.3	-	c.2166C>T	c.(2164-2166)GTC>GTT	p.V722V	GABBR1_uc003nmp.3_Silent_p.V605V|GABBR1_uc003nms.3_Silent_p.V605V|GABBR1_uc003nmu.3_Silent_p.V660V|GABBR1_uc011dlr.1_Silent_p.V545V	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	722	Helical; Name=4; (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)	6					Baclofen(DB00181)|Progabide(DB00837)									0.271318	86.956858	93.05284	35	94	KEEP	---	---	---	---	capture		Silent	SNP	29574725	29574725	6406	6	G	A	A	A	522	41	GABBR1	2	2
SLC44A4	80736	broad.mit.edu	37	6	31843659	31843659	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:31843659G>A	uc010jti.2	-	c.212C>T	c.(211-213)ACT>ATT	p.T71I	SLC44A4_uc011dol.1_5'UTR|SLC44A4_uc011dom.1_Missense_Mutation_p.T71I	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	71	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)									0.32574	394.546078	406.388019	143	296	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	31843659	31843659	15135	6	G	A	A	A	468	36	SLC44A4	2	2
KCNK17	89822	broad.mit.edu	37	6	39278775	39278775	+	Silent	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39278775G>A	uc003ooo.2	-	c.246C>T	c.(244-246)GTC>GTT	p.V82V	KCNK17_uc003oop.2_Silent_p.V82V	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	82						integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1														0.260606	99.868311	108.426107	43	122	KEEP	---	---	---	---	capture		Silent	SNP	39278775	39278775	8369	6	G	A	A	A	522	41	KCNK17	2	2
KIF6	221458	broad.mit.edu	37	6	39330242	39330242	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:39330242C>A	uc003oot.2	-	c.1914G>T	c.(1912-1914)AAG>AAT	p.K638N	KIF6_uc003oos.2_Missense_Mutation_p.K89N|KIF6_uc010jwz.1_Missense_Mutation_p.K13N|KIF6_uc010jxa.1_Missense_Mutation_p.K429N|KIF6_uc011dua.1_Missense_Mutation_p.K621N|KIF6_uc010jxb.1_Missense_Mutation_p.K582N	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	638	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3												OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.167286	80.477569	108.744	45	224	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39330242	39330242	8619	6	C	A	A	A	363	28	KIF6	2	2
TREML2	79865	broad.mit.edu	37	6	41160566	41160566	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:41160566C>A	uc010jxm.1	-	c.859G>T	c.(859-861)GGG>TGG	p.G287W		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid	287	Helical; (Potential).				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)													0.195122	18.378055	21.930159	8	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	41160566	41160566	17017	6	C	A	A	A	273	21	TREML2	2	2
TINAG	27283	broad.mit.edu	37	6	54191689	54191689	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:54191689T>A	uc003pcj.2	+	c.599T>A	c.(598-600)ATG>AAG	p.M200K	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	200					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)											0.367925	121.899184	123.523876	39	67	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	54191689	54191689	16450	6	T	A	A	A	663	51	TINAG	3	3
BAI3	577	broad.mit.edu	37	6	69348714	69348714	+	Silent	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:69348714T>A	uc003pev.3	+	c.147T>A	c.(145-147)CCT>CCA	p.P49P	BAI3_uc010kak.2_Silent_p.P49P	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	49	CUB.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(7)|skin(6)|pancreas(4)|central_nervous_system(3)|lung(3)|urinary_tract(1)	24		all_lung(197;0.212)								992				0.456897	160.372034	160.55808	53	63	KEEP	---	---	---	---	capture		Silent	SNP	69348714	69348714	1321	6	T	A	A	A	678	53	BAI3	3	3
COL12A1	1303	broad.mit.edu	37	6	75844451	75844451	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:75844451C>A	uc003phs.2	-	c.5515G>T	c.(5515-5517)GGC>TGC	p.G1839C	COL12A1_uc003pht.2_Missense_Mutation_p.G675C	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1839	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)	8														0.358696	92.937822	94.560121	33	59	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	75844451	75844451	3807	6	C	A	A	A	312	24	COL12A1	2	2
MDN1	23195	broad.mit.edu	37	6	90503894	90503894	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90503894C>G	uc003pnn.1	-	c.587G>C	c.(586-588)TGT>TCT	p.C196S	MDN1_uc003pnp.1_Missense_Mutation_p.C196S	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	196					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)	8		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)										0.343284	78.415162	79.863852	23	44	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	90503894	90503894	9804	6	C	G	G	G	221	17	MDN1	3	3
CASP8AP2	9994	broad.mit.edu	37	6	90576192	90576192	+	Silent	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:90576192A>G	uc003pnr.2	+	c.3183A>G	c.(3181-3183)TCA>TCG	p.S1061S	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.S1061S|CASP8AP2_uc011dzz.1_Silent_p.S1061S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1061					activation of caspase activity|cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		Colon(187;1656 2025 17045 31481 39901)								0.75	9.929465	10.154011	3	1	KEEP	---	---	---	---	capture		Silent	SNP	90576192	90576192	2797	6	A	G	G	G	93	8	CASP8AP2	4	4
SERPINE1	5054	broad.mit.edu	37	7	100771819	100771819	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:100771819G>T	uc003uxt.2	+	c.145G>T	c.(145-147)GCC>TCC	p.A49S	SERPINE1_uc011kkj.1_Missense_Mutation_p.A34S|SERPINE1_uc003uxu.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1 isoform 1	49					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)									0.3875	82.558882	83.427072	31	49	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	100771819	100771819	14599	7	G	T	T	T	546	42	SERPINE1	2	2
RELN	5649	broad.mit.edu	37	7	103126853	103126853	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:103126853G>T	uc003vca.2	-	c.9774C>A	c.(9772-9774)TGC>TGA	p.C3258*	RELN_uc010liz.2_Nonsense_Mutation_p.C3258*	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3258	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|large_intestine(2)|central_nervous_system(2)|pancreas(1)|skin(1)	14				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		NSCLC(146;835 1944 15585 22231 52158)								0.539474	125.869193	125.971233	41	35	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	103126853	103126853	13689	7	G	T	T	T	438	34	RELN	5	2
GPR22	2845	broad.mit.edu	37	7	107115753	107115753	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:107115753T>A	uc003vef.2	+	c.1248T>A	c.(1246-1248)TTT>TTA	p.F416L	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron	NM_005295	NP_005286	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	416	Cytoplasmic (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1														0.583333	22.526637	22.599382	7	5	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107115753	107115753	6957	7	T	A	A	A	816	63	GPR22	3	3
DENND2A	27147	broad.mit.edu	37	7	140301877	140301877	+	Silent	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140301877C>T	uc010lnj.2	-	c.321G>A	c.(319-321)GAG>GAA	p.E107E	DENND2A_uc011kre.1_Non-coding_Transcript|DENND2A_uc010lnk.2_Silent_p.E107E|DENND2A_uc003vvw.2_Silent_p.E107E|DENND2A_uc003vvx.2_Silent_p.E107E	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	107										ovary(3)|breast(1)	4	Melanoma(164;0.00956)													0.506452	499.442672	499.453341	157	153	KEEP	---	---	---	---	capture		Silent	SNP	140301877	140301877	4608	7	C	T	T	T	415	32	DENND2A	2	2
BRAF	673	broad.mit.edu	37	7	140434413	140434413	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:140434413G>T	uc003vwc.3	-	c.2285C>A	c.(2284-2286)GCG>GAG	p.A762E		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	762					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(211)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(7681)|large_intestine(4665)|skin(3221)|NS(366)|central_nervous_system(264)|ovary(219)|lung(77)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(27)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(16)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	16798	Melanoma(164;0.00956)				Sorafenib(DB00398)	Colon(40;35 892 2973 5743 27438)		61		451				0.491935	579.549717	579.569608	183	189	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	140434413	140434413	1527	7	G	T	T	T	494	38	BRAF	1	1
GIMAP2	26157	broad.mit.edu	37	7	150389570	150389570	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:150389570G>T	uc003who.2	+	c.196G>T	c.(196-198)GGA>TGA	p.G66*	GIMAP1_uc003whp.2_Intron	NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	66						integral to membrane	GTP binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)										0.676923	141.918397	143.723196	44	21	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	150389570	150389570	6648	7	G	T	T	T	559	43	GIMAP2	5	2
ANLN	54443	broad.mit.edu	37	7	36483457	36483457	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:36483457G>A	uc003tff.2	+	c.3064G>A	c.(3064-3066)GAT>AAT	p.D1022N	ANLN_uc011kaz.1_Missense_Mutation_p.D934N|ANLN_uc003tfg.2_Missense_Mutation_p.D985N|ANLN_uc010kxe.2_Missense_Mutation_p.D984N	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1022	PH.|Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3														0.458333	34.022198	34.058536	11	13	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	36483457	36483457	702	7	G	A	A	A	585	45	ANLN	2	2
PCLO	27445	broad.mit.edu	37	7	82764745	82764745	+	Silent	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:82764745C>T	uc003uhx.2	-	c.2121G>A	c.(2119-2121)GTG>GTA	p.V707V	PCLO_uc003uhv.2_Silent_p.V707V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	653	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity|zinc ion binding			ovary(7)	7														0.16129	25.86115	36.017547	15	78	KEEP	---	---	---	---	capture		Silent	SNP	82764745	82764745	12003	7	C	T	T	T	366	29	PCLO	2	2
C7orf64	84060	broad.mit.edu	37	7	92164123	92164123	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr7:92164123A>G	uc003ulz.2	+	c.856A>G	c.(856-858)AGA>GGA	p.R286G	C7orf64_uc003uma.2_Missense_Mutation_p.R286G	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	286							nucleotide binding			ovary(2)	2														0.441176	56.122457	56.224699	15	19	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	92164123	92164123	2517	7	A	G	G	G	36	3	C7orf64	4	4
RP1L1	94137	broad.mit.edu	37	8	10470214	10470214	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10470214G>T	uc003wtc.2	-	c.1394C>A	c.(1393-1395)TCG>TAG	p.S465*		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	465					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)										0.1625	21.693581	30.3033	13	67	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10470214	10470214	14012	8	G	T	T	T	481	37	RP1L1	5	1
RIMS2	9699	broad.mit.edu	37	8	104955095	104955095	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:104955095C>A	uc003yls.2	+	c.1976C>A	c.(1975-1977)CCT>CAT	p.P659H	RIMS2_uc003ylp.2_Missense_Mutation_p.P881H|RIMS2_uc003ylw.2_Missense_Mutation_p.P673H|RIMS2_uc003ylq.2_Missense_Mutation_p.P673H|RIMS2_uc003ylr.2_Missense_Mutation_p.P720H|RIMS2_uc003ylt.2_Missense_Mutation_p.P266H	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	943					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|zinc ion binding			ovary(6)|lung(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)							728				0.487179	55.209936	55.215896	19	20	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104955095	104955095	13845	8	C	A	A	A	312	24	RIMS2	2	2
C8orf74	203076	broad.mit.edu	37	8	10555360	10555360	+	Nonsense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:10555360G>T	uc003wtd.1	+	c.493G>T	c.(493-495)GAG>TAG	p.E165*	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	hypothetical protein LOC203076	165											0				COAD - Colon adenocarcinoma(149;0.0811)										0.366197	61.888266	63.022045	26	45	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	10555360	10555360	2548	8	G	T	T	T	481	37	C8orf74	5	1
ANGPT1	284	broad.mit.edu	37	8	108264099	108264099	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:108264099C>T	uc003ymn.2	-	c.1481G>A	c.(1480-1482)CGA>CAA	p.R494Q	ANGPT1_uc011lhv.1_Missense_Mutation_p.R294Q|ANGPT1_uc003ymo.2_Missense_Mutation_p.R493Q	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	494	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)	3	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)											0.150538	24.085666	34.973131	14	79	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	108264099	108264099	613	8	C	T	T	T	403	31	ANGPT1	1	1
CSMD3	114788	broad.mit.edu	37	8	113314033	113314033	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113314033G>T	uc003ynu.2	-	c.8429C>A	c.(8428-8430)ACC>AAC	p.T2810N	CSMD3_uc003yns.2_Missense_Mutation_p.T2012N|CSMD3_uc003ynt.2_Missense_Mutation_p.T2770N|CSMD3_uc011lhx.1_Missense_Mutation_p.T2641N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2810	Extracellular (Potential).|Sushi 17.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.236364	30.059485	33.545896	13	42	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113314033	113314033	4087	8	G	T	T	T	572	44	CSMD3	2	2
CSMD3	114788	broad.mit.edu	37	8	113702259	113702259	+	Missense_Mutation	SNP	C	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113702259C>G	uc003ynu.2	-	c.1993G>C	c.(1993-1995)GGT>CGT	p.G665R	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.G625R|CSMD3_uc011lhx.1_Missense_Mutation_p.G561R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	665	Extracellular (Potential).|Sushi 3.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.4	134.378326	135.253604	40	60	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113702259	113702259	4087	8	C	G	G	G	273	21	CSMD3	3	3
CSMD3	114788	broad.mit.edu	37	8	113988072	113988072	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:113988072G>T	uc003ynu.2	-	c.1336C>A	c.(1336-1338)CAT>AAT	p.H446N	CSMD3_uc003ynt.2_Missense_Mutation_p.H406N|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	446	Extracellular (Potential).					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.348485	61.101482	62.440247	23	43	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	113988072	113988072	4087	8	G	T	T	T	585	45	CSMD3	2	2
NOV	4856	broad.mit.edu	37	8	120431528	120431528	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:120431528G>T	uc003yoq.2	+	c.720G>T	c.(718-720)CAG>CAT	p.Q240H		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	240	TSP type-1.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)					71				0.252475	118.319702	129.566556	51	151	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	120431528	120431528	10957	8	G	T	T	T	425	33	NOV	2	2
DLGAP2	9228	broad.mit.edu	37	8	1497520	1497520	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:1497520G>T	uc003wpl.2	+	c.661G>T	c.(661-663)GAC>TAC	p.D221Y	DLGAP2_uc003wpm.2_Missense_Mutation_p.D221Y	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	300					nerve-nerve synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)										0.346154	103.084506	105.250275	36	68	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	1497520	1497520	4740	8	G	T	T	T	481	37	DLGAP2	1	1
NEFM	4741	broad.mit.edu	37	8	24771756	24771756	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:24771756C>A	uc003xed.3	+	c.450C>A	c.(448-450)TAC>TAA	p.Y150*	NEFM_uc011lac.1_Nonsense_Mutation_p.Y150*|NEFM_uc010lue.2_5'Flank	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	150	Rod.|Coil 1B.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)										0.28	18.514134	19.602235	7	18	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	24771756	24771756	10715	8	C	A	A	A	246	19	NEFM	5	1
ADAM9	8754	broad.mit.edu	37	8	38884248	38884248	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:38884248G>T	uc003xmr.2	+	c.1049G>T	c.(1048-1050)GGT>GTT	p.G350V	ADAM9_uc011lcf.1_Non-coding_Transcript|ADAM9_uc011lcg.1_Non-coding_Transcript|ADAM9_uc010lwr.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	350	Extracellular (Potential).|Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|integrin-mediated signaling pathway|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway|visual perception	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)	1		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)											0.324503	141.425697	145.551527	49	102	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	38884248	38884248	254	8	G	T	T	T	572	44	ADAM9	2	2
ADAM2	2515	broad.mit.edu	37	8	39624713	39624713	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:39624713C>A	uc003xnj.2	-	c.1270G>T	c.(1270-1272)GGT>TGT	p.G424C	ADAM2_uc003xnk.2_Missense_Mutation_p.G405C|ADAM2_uc011lck.1_Missense_Mutation_p.G424C|ADAM2_uc003xnl.2_Missense_Mutation_p.G298C	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	424	Extracellular (Potential).|Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)										0.287611	183.984199	193.125593	65	161	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	39624713	39624713	242	8	C	A	A	A	299	23	ADAM2	1	1
TRPA1	8989	broad.mit.edu	37	8	72984007	72984007	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:72984007A>T	uc003xza.2	-	c.207T>A	c.(205-207)TAT>TAA	p.Y69*		NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	69	Cytoplasmic (Potential).|ANK 1.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)									0.222222	19.881852	22.436441	8	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	72984007	72984007	17128	8	A	T	T	T	102	8	TRPA1	5	3
FAM82B	51115	broad.mit.edu	37	8	87498776	87498776	+	Nonsense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:87498776A>T	uc003ydu.2	-	c.432T>A	c.(430-432)TAT>TAA	p.Y144*	FAM82B_uc011lfz.1_Nonsense_Mutation_p.Y144*|FAM82B_uc011lga.1_Nonsense_Mutation_p.Y144*	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	144						microtubule|spindle pole	binding			ovary(1)	1														0.428571	88.919206	89.19869	27	36	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	87498776	87498776	5858	8	A	T	T	T	102	8	FAM82B	5	3
PGCP	10404	broad.mit.edu	37	8	97797349	97797349	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:97797349G>T	uc003yhw.2	+	c.224G>T	c.(223-225)GGA>GTA	p.G75V	PGCP_uc010mbe.2_Missense_Mutation_p.G75V	NM_016134	NP_057218	Q9Y646	PGCP_HUMAN	plasma glutamate carboxypeptidase precursor	75					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity				0	Breast(36;1.86e-05)													0.157895	19.347739	27.833807	12	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	97797349	97797349	12209	8	G	T	T	T	533	41	PGCP	2	2
NIPAL2	79815	broad.mit.edu	37	8	99264759	99264759	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr8:99264759C>A	uc003yil.1	-	c.308G>T	c.(307-309)GGG>GTG	p.G103V	NIPAL2_uc011lgw.1_5'Flank|NIPAL2_uc003yim.1_Missense_Mutation_p.G103V	NM_024759	NP_079035	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	103	Helical; (Potential).					integral to membrane					0														0.15	8.128803	12.824347	6	34	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	99264759	99264759	10826	8	C	A	A	A	286	22	NIPAL2	2	2
MURC	347273	broad.mit.edu	37	9	103348672	103348672	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:103348672A>T	uc004bba.2	+	c.1034A>T	c.(1033-1035)AAA>ATA	p.K345I		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	345					cell differentiation|muscle organ development|transcription, DNA-dependent					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0461)												0.450549	118.160194	118.354391	41	50	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	103348672	103348672	10381	9	A	T	T	T	13	1	MURC	3	3
ALDOB	229	broad.mit.edu	37	9	104189921	104189921	+	Missense_Mutation	SNP	A	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:104189921A>T	uc004bbk.2	-	c.383T>A	c.(382-384)CTT>CAT	p.L128H		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	128					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)												0.181818	24.359125	30.637565	12	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	104189921	104189921	511	9	A	T	T	T	39	3	ALDOB	3	3
OR13C2	392376	broad.mit.edu	37	9	107367202	107367202	+	Missense_Mutation	SNP	T	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:107367202T>A	uc011lvq.1	-	c.707A>T	c.(706-708)AAA>ATA	p.K236I		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	236	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.360465	81.094196	82.5709	31	55	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107367202	107367202	11340	9	T	A	A	A	832	64	OR13C2	3	3
ZNF483	158399	broad.mit.edu	37	9	114305028	114305028	+	Missense_Mutation	SNP	A	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:114305028A>G	uc004bff.2	+	c.1813A>G	c.(1813-1815)AAA>GAA	p.K605E	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	605					regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0														0.415094	80.243653	80.576597	22	31	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	114305028	114305028	18530	9	A	G	G	G	13	1	ZNF483	4	4
ASTN2	23245	broad.mit.edu	37	9	119770520	119770520	+	Missense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:119770520C>T	uc004bjs.1	-	c.1442G>A	c.(1441-1443)AGT>AAT	p.S481N	ASTN2_uc004bjr.1_Missense_Mutation_p.S481N|ASTN2_uc004bjt.1_Missense_Mutation_p.S430N	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	481	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5														0.173913	23.85535	30.782588	12	57	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	119770520	119770520	1084	9	C	T	T	T	260	20	ASTN2	2	2
MPDZ	8777	broad.mit.edu	37	9	13188859	13188859	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:13188859C>A	uc010mhy.2	-	c.2288G>T	c.(2287-2289)AGT>ATT	p.S763I	MPDZ_uc010mhz.2_Missense_Mutation_p.S763I|MPDZ_uc011lmn.1_Missense_Mutation_p.S763I|MPDZ_uc003zlb.3_Missense_Mutation_p.S763I|MPDZ_uc010mia.1_Missense_Mutation_p.S763I	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	763	PDZ 5.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)										0.246324	162.488076	178.426836	67	205	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	13188859	13188859	10114	9	C	A	A	A	260	20	MPDZ	2	2
BAT2L1	84726	broad.mit.edu	37	9	134334625	134334625	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:134334625G>C	uc004can.3	+	c.1286G>C	c.(1285-1287)CGA>CCA	p.R429P	BAT2L1_uc010mzj.1_Missense_Mutation_p.R13P	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	429							protein binding				0														0.26	123.862213	131.680554	39	111	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	134334625	134334625	1341	9	G	C	C	C	481	37	BAT2L1	3	3
LCN9	392399	broad.mit.edu	37	9	138556120	138556120	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:138556120G>T	uc004cgk.1	+	c.209G>T	c.(208-210)AGC>ATC	p.S70I		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	lipocalin 9	70						extracellular region	pheromone binding|transporter activity			large_intestine(2)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)										0.39375	180.990118	182.571094	63	97	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	138556120	138556120	9011	9	G	T	T	T	442	34	LCN9	2	2
C9orf93	203238	broad.mit.edu	37	9	15784550	15784550	+	Missense_Mutation	SNP	T	G	G			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:15784550T>G	uc011lmu.1	+	c.3149T>G	c.(3148-3150)CTA>CGA	p.L1050R	C9orf93_uc003zmd.2_Missense_Mutation_p.L1042R|C9orf93_uc003zme.2_Missense_Mutation_p.L957R|C9orf93_uc003zmf.1_Missense_Mutation_p.L350R	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1042	Potential.										0				GBM - Glioblastoma multiforme(50;4.84e-07)										0.185185	11.358344	13.867674	5	22	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	15784550	15784550	2622	9	T	G	G	G	689	53	C9orf93	4	4
BNC2	54796	broad.mit.edu	37	9	16436214	16436214	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:16436214G>T	uc003zml.2	-	c.1978C>A	c.(1978-1980)CCC>ACC	p.P660T	BNC2_uc011lmw.1_Missense_Mutation_p.P565T|BNC2_uc003zmm.2_Missense_Mutation_p.P618T|BNC2_uc003zmq.1_Missense_Mutation_p.P674T|BNC2_uc003zmr.1_Missense_Mutation_p.P697T|BNC2_uc003zmp.1_Missense_Mutation_p.P688T|BNC2_uc010mij.1_Missense_Mutation_p.P582T|BNC2_uc011lmv.1_Missense_Mutation_p.P486T|BNC2_uc003zmo.1_Missense_Mutation_p.P582T|BNC2_uc003zmj.2_Missense_Mutation_p.P425T|BNC2_uc003zmk.2_Non-coding_Transcript|BNC2_uc003zmi.2_Missense_Mutation_p.P425T|BNC2_uc003zmn.1_Missense_Mutation_p.P425T	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)										0.126437	11.658454	23.519248	11	76	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	16436214	16436214	1500	9	G	T	T	T	559	43	BNC2	2	2
SMARCA2	6595	broad.mit.edu	37	9	2101582	2101582	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:2101582G>C	uc003zhc.2	+	c.3091G>C	c.(3091-3093)GAA>CAA	p.E1031Q	SMARCA2_uc003zhd.2_Missense_Mutation_p.E1031Q|SMARCA2_uc010mha.2_Missense_Mutation_p.E964Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	SWI/SNF-related matrix-associated	1031					chromatin remodeling|negative regulation of gene-specific transcription from RNA polymerase II promoter|nervous system development|positive regulation of gene-specific transcription from RNA polymerase II promoter|transcription, DNA-dependent	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein binding|transcription activator activity|transcription coactivator activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)										0.151515	12.052125	15.890282	5	28	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	2101582	2101582	15267	9	G	C	C	C	585	45	SMARCA2	3	3
RFX3	5991	broad.mit.edu	37	9	3263012	3263012	+	Missense_Mutation	SNP	G	C	C			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:3263012G>C	uc003zhr.2	-	c.1528C>G	c.(1528-1530)CGT>GGT	p.R510G	RFX3_uc010mhd.2_Missense_Mutation_p.R510G|RFX3_uc003zhs.1_Missense_Mutation_p.R510G	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	510					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin|transcription factor complex	promoter binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription activator activity|transcription repressor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)										0.383838	132.912988	134.087749	38	61	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	3263012	3263012	13736	9	G	C	C	C	481	37	RFX3	3	3
ARID3C	138715	broad.mit.edu	37	9	34627853	34627853	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:34627853C>A	uc011lon.1	-	c.159G>T	c.(157-159)GAG>GAT	p.E53D		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)	53	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)										0.5	26.87411	26.87411	9	9	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	34627853	34627853	933	9	C	A	A	A	311	24	ARID3C	2	2
TRPM3	80036	broad.mit.edu	37	9	73151524	73151524	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:73151524G>T	uc004aid.2	-	c.4469C>A	c.(4468-4470)CCT>CAT	p.P1490H	TRPM3_uc004ahu.2_Missense_Mutation_p.P1332H|TRPM3_uc004ahv.2_Missense_Mutation_p.P1292H|TRPM3_uc004ahw.2_Missense_Mutation_p.P1362H|TRPM3_uc004ahx.2_Missense_Mutation_p.P1349H|TRPM3_uc004ahy.2_Missense_Mutation_p.P1352H|TRPM3_uc004ahz.2_Missense_Mutation_p.P1339H|TRPM3_uc004aia.2_Missense_Mutation_p.P1337H|TRPM3_uc004aib.2_Missense_Mutation_p.P1327H|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1515	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(2)	7														0.384615	113.972136	115.18704	40	64	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	73151524	73151524	17138	9	G	T	T	T	455	35	TRPM3	2	2
TRPM3	80036	broad.mit.edu	37	9	73218374	73218374	+	Nonsense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:73218374C>A	uc004aid.2	-	c.2644G>T	c.(2644-2646)GGA>TGA	p.G882*	TRPM3_uc004ahu.2_Nonsense_Mutation_p.G712*|TRPM3_uc004ahv.2_Nonsense_Mutation_p.G684*|TRPM3_uc004ahw.2_Nonsense_Mutation_p.G754*|TRPM3_uc004ahx.2_Nonsense_Mutation_p.G741*|TRPM3_uc004ahy.2_Nonsense_Mutation_p.G744*|TRPM3_uc004ahz.2_Nonsense_Mutation_p.G731*|TRPM3_uc004aia.2_Nonsense_Mutation_p.G729*|TRPM3_uc004aib.2_Nonsense_Mutation_p.G719*|TRPM3_uc004aic.2_Nonsense_Mutation_p.G882*	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	907	Helical; (Potential).					integral to membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(2)	7														0.40625	79.442579	79.932661	26	38	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	73218374	73218374	17138	9	C	A	A	A	299	23	TRPM3	5	1
TMEM2	23670	broad.mit.edu	37	9	74313084	74313084	+	Missense_Mutation	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:74313084C>A	uc011lsa.1	-	c.3414G>T	c.(3412-3414)AGG>AGT	p.R1138S	TMEM2_uc011lrz.1_Missense_Mutation_p.R131S|TMEM2_uc010mos.2_Missense_Mutation_p.R1075S|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_5'UTR	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	1138						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)										0.373333	155.453837	157.57041	56	94	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	74313084	74313084	16656	9	C	A	A	A	337	26	TMEM2	2	2
GCNT1	2650	broad.mit.edu	37	9	79118029	79118029	+	Silent	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:79118029G>T	uc010mpf.2	+	c.732G>T	c.(730-732)ACG>ACT	p.T244T	GCNT1_uc010mpg.2_Silent_p.T244T|GCNT1_uc010mph.2_Silent_p.T244T|GCNT1_uc004akf.3_Silent_p.T244T|GCNT1_uc010mpi.2_Silent_p.T244T|GCNT1_uc004akh.3_Silent_p.T244T	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	beta-1,3-galactosyl-O-glycosyl-glycoprotein	244	Lumenal (Potential).|Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity				0														0.126437	16.764257	28.610811	11	76	KEEP	---	---	---	---	capture		Silent	SNP	79118029	79118029	6566	9	G	T	T	T	496	39	GCNT1	1	1
COL4A5	1287	broad.mit.edu	37	X	107814662	107814662	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:107814662G>T	uc004enz.1	+	c.404G>T	c.(403-405)GGC>GTC	p.G135V	COL4A5_uc011mso.1_Missense_Mutation_p.G135V	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	135	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4														0.659794	203.120947	205.30733	64	33	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	107814662	107814662	3832	23	G	T	T	T	546	42	COL4A5	2	2
ALG13	79868	broad.mit.edu	37	X	110988103	110988103	+	Missense_Mutation	SNP	G	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:110988103G>A	uc011msy.1	+	c.2903G>A	c.(2902-2904)TGT>TAT	p.C968Y	ALG13_uc011msx.1_Intron|ALG13_uc011msz.1_Missense_Mutation_p.C890Y|ALG13_uc011mta.1_Intron|ALG13_uc011mtb.1_Intron	ALG13		Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	968	Pro-rich.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1														0.714286	29.952477	30.528203	10	4	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	110988103	110988103	518	23	G	A	A	A	624	48	ALG13	2	2
TRPC5	7224	broad.mit.edu	37	X	111020010	111020010	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111020010G>T	uc004epl.1	-	c.2453C>A	c.(2452-2454)CCA>CAA	p.P818Q		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	818	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1														0.622378	287.804057	289.682958	89	54	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111020010	111020010	17133	23	G	T	T	T	611	47	TRPC5	2	2
LHFPL1	340596	broad.mit.edu	37	X	111874652	111874652	+	Missense_Mutation	SNP	G	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:111874652G>T	uc004epp.2	-	c.728C>A	c.(727-729)CCT>CAT	p.P243H	LHFPL1_uc004epq.2_Missense_Mutation_p.P220H|LHFPL1_uc010nqa.2_Non-coding_Transcript|LHFPL1_uc010nqb.2_Missense_Mutation_p.P187H	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1 precursor	220						integral to membrane					0														0.512821	120.904062	120.915469	40	38	KEEP	---	---	---	---	capture		Missense_Mutation	SNP	111874652	111874652	9090	23	G	T	T	T	455	35	LHFPL1	2	2
TLR8	51311	broad.mit.edu	37	X	12938519	12938519	+	Nonsense_Mutation	SNP	C	T	T			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:12938519C>T	uc004cvd.2	+	c.1414C>T	c.(1414-1416)CGA>TGA	p.R472*	TLR8_uc004cve.2_Nonsense_Mutation_p.R454*	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	454	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane|integral to membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|large_intestine(1)	5														0.58209	119.729975	120.123184	39	28	KEEP	---	---	---	---	capture		Nonsense_Mutation	SNP	12938519	12938519	16487	23	C	T	T	T	243	19	TLR8	5	1
WAS	7454	broad.mit.edu	37	X	48546470	48546470	+	Silent	SNP	C	A	A			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:48546470C>A	uc004dkm.3	+	c.762C>A	c.(760-762)CCC>CCA	p.P254P		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	254					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)								57				0.285714	8.897872	9.472811	4	10	KEEP	---	---	---	---	capture		Silent	SNP	48546470	48546470	17823	23	C	A	A	A	275	22	WAS	2	2
PLEKHG3	26030	broad.mit.edu	37	14	65204696	65204698	+	In_Frame_Del	DEL	GGA	-	-	rs78348535		TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr14:65204696_65204698delGGA	uc001xhp.2	+	c.1521_1523delGGA	c.(1519-1524)GTGGAG>GTG	p.E517del	PLEKHG3_uc001xhn.1_Intron|PLEKHG3_uc001xho.1_Intron|PLEKHG3_uc010aqh.1_Intron|PLEKHG3_uc001xhq.1_5'Flank	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	536					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)										0.33			2	4		---	---	---	---	capture_indel		In_Frame_Del	DEL	65204696	65204698	12496	14	GGA	-	-	-	599	47	PLEKHG3	5	5
RUNDC1	146923	broad.mit.edu	37	17	41143406	41143406	+	Frame_Shift_Del	DEL	G	-	-			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:41143406_41143406delG	uc002ici.1	+	c.1515_1515delG	c.(1513-1515)ACGfs	p.T505fs	RUNDC1_uc010whi.1_Frame_Shift_Del_p.T275fs	NM_173079	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	505	RUN.										0		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)										0.44			72	91		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	41143406	41143406	14222	17	G	-	-	-	496	39	RUNDC1	5	5
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	-	-	rs79105740		TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr19:8398950_8398961delTCGCTGTCGCCA	uc010dwa.2	-	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)GATGGCGACAGCGAG>GAG	p.DGDS489del	KANK3_uc002mjp.1_In_Frame_Del_p.MATA1del	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	ankyrin repeat domain 47	489_492											0														0.50			3	3		---	---	---	---	capture_indel		In_Frame_Del	DEL	8398950	8398961	8282	19	TCGCTGTCGCCA	-	-	-	702	54	KANK3	5	5
OBSCN	84033	broad.mit.edu	37	1	228558786	228558786	+	Frame_Shift_Del	DEL	C	-	-			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chr1:228558786_228558786delC	uc009xez.1	+	c.20307_20307delC	c.(20305-20307)GGCfs	p.G6769fs	OBSCN_uc001hsr.1_Frame_Shift_Del_p.G1398fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6769					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.52			60	55		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	228558786	228558786	11217	1	C	-	-	-	327	26	OBSCN	5	5
FAM58A	92002	broad.mit.edu	37	X	152860006	152860006	+	Frame_Shift_Del	DEL	T	-	-			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:152860006_152860006delT	uc011myr.1	-	c.420_420delA	c.(418-420)CAAfs	p.Q140fs	FAM58A_uc011mys.1_Frame_Shift_Del_p.Q140fs|FAM58A_uc010nug.2_Frame_Shift_Del_p.K81fs	NM_152274	NP_689487	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	Error:Variant_position_missing_in_Q8N1B3_after_alignment							protein binding				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.58			76	55		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	152860006	152860006	5812	23	T	-	-	-	728	56	FAM58A	5	5
DIAPH2	1730	broad.mit.edu	37	X	96171435	96171436	+	Splice_Site_Del	DEL	AG	-	-			TCGA-05-4249-01	TCGA-05-4249-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:96171435_96171436delAG	uc004efu.3	+	c.733_splice	c.e8-1	p.F245_splice	DIAPH2_uc004eft.3_Splice_Site_Del_p.F245_splice|DIAPH2_uc004efs.2_Splice_Site_Del_p.F252_splice	NM_006729	NP_006720			diaphanous 2 isoform 156						cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4														0.33			2	4		---	---	---	---	capture_indel		Splice_Site_Del	DEL	96171435	96171436	4698	23	AG	-	-	-	195	15	DIAPH2	5	5
