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	Transcript_Exon	Transcript_Position	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	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_status	validation_method	validation_tumor_sample	validation_alt_allele
PHACTR4	65979	broad.mit.edu	37	1	28817969	28817970	+	Intron	INS	-	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28817969_28817970insA	uc001bpw.2	+						PHACTR4_uc001bpv.1_Intron|PHACTR4_uc001bpx.2_Intron|PHACTR4_uc001bpy.2_Intron|PHACTR4_uc001bpz.2_5'Flank	NM_001048183	NP_001041648			phosphatase and actin regulator 4 isoform 1								actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91817007	91817007	+	Intron	DEL	A	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91817007delA	uc001doa.3	-						HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron	NM_001017975	NP_001017975			HFM1 protein								ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)														---	---	---	---
TRIM45	80263	broad.mit.edu	37	1	117663878	117663879	+	5'UTR	DEL	AG	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117663878_117663879delAG	uc001egz.2	-	1					TRIM45_uc009whe.2_5'UTR|TRIM45_uc001eha.2_Intron	NM_025188	NP_079464			tripartite motif-containing 45 isoform 1							cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)	1	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)														---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158612112	158612112	+	Intron	DEL	A	-	-	rs7514536	by1000genomes	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158612112delA	uc001fst.1	-							NM_003126	NP_003117			spectrin, alpha, erythrocytic 1						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)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
CR1L	1379	broad.mit.edu	37	1	207842739	207842756	+	Intron	DEL	ATTTCAGTTTTCTTCGAG	-	-	rs139825875		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207842739_207842756delATTTCAGTTTTCTTCGAG	uc001hga.3	+						CR1L_uc001hfz.2_Intron	NM_175710	NP_783641			complement component (3b/4b) receptor 1-like							cytoplasm|extracellular region|membrane					0																		---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8891387	8891387	+	Intron	DEL	T	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8891387delT	uc002qzc.2	-						KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Intron|KIDINS220_uc010yiw.1_Intron|KIDINS220_uc002qzb.2_5'Flank|KIDINS220_uc002qze.2_Intron	NM_020738	NP_065789			kinase D-interacting substrate of 220 kDa						activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				ovary(3)|central_nervous_system(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225781366	225781366	+	Intron	DEL	A	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225781366delA	uc010fwz.1	-						DOCK10_uc002vob.2_Intron|DOCK10_uc002vod.1_Intron	NM_014689	NP_055504			dedicator of cytokinesis 10								GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)														---	---	---	---
ZNF167	55888	broad.mit.edu	37	3	44611508	44611509	+	Frame_Shift_Ins	INS	-	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44611508_44611509insG	uc010hin.2	+	6	1294_1295	c.906_907insG	c.(904-909)TTTGGGfs	p.F302fs	ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Frame_Shift_Ins_p.F151fs|ZNF167_uc003cnj.2_Frame_Shift_Ins_p.F302fs|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	zinc finger protein 167 isoform 1	302_303	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)														---	---	---	---
MME	4311	broad.mit.edu	37	3	154834152	154834153	+	Intron	INS	-	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154834152_154834153insT	uc010hvr.1	+						MME_uc003fab.1_Intron|MME_uc003fac.1_Intron|MME_uc003fad.1_Intron|MME_uc003fae.1_Intron	NM_007289	NP_009220			membrane metallo-endopeptidase						cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)													---	---	---	---
IL12A	3592	broad.mit.edu	37	3	159706676	159706677	+	5'UTR	INS	-	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:159706676_159706677insG	uc003fcx.2	+	1					uc003fcw.1_Intron	NM_000882	NP_000873			interleukin 12A precursor						cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity				0			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)													OREG0015908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	5	76842129	76842129	+	IGR	DEL	A	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76842129delA								WDR41 (53797 upstream) : OTP (82409 downstream)																																			---	---	---	---
MARCH3	115123	broad.mit.edu	37	5	126250459	126250460	+	Intron	INS	-	AC	AC	rs58386463		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:126250459_126250460insAC	uc003kuf.2	-							NM_178450	NP_848545			membrane-associated ring finger (C3HC4) 3						endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			upper_aerodigestive_tract(1)	1		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)														---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140790416	140790417	+	Intron	INS	-	TT	TT	rs67450739		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140790416_140790417insTT	uc003ljk.1	+						PCDHGA1_uc003lji.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_5'Flank|PCDHGA10_uc003lkl.1_5'Flank	NM_018915	NP_061738			protocadherin gamma subfamily A, 2 isoform 1						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
GPR151	134391	broad.mit.edu	37	5	145894703	145894705	+	In_Frame_Del	DEL	ATC	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145894703_145894705delATC	uc003lod.1	-	1	972_974	c.972_974delGAT	c.(970-975)ATGATA>ATA	p.M324del		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	324	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
MED7	9443	broad.mit.edu	37	5	156566601	156566604	+	Intron	DEL	ATTT	-	-	rs71743167		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156566601_156566604delATTT	uc010jik.2	-						MED7_uc003lwm.3_Intron	NM_001100816	NP_001094286			mediator complex subunit 7						regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity				0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
ARMC2	84071	broad.mit.edu	37	6	109177514	109177514	+	Intron	DEL	T	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109177514delT	uc003pss.3	+						ARMC2_uc011eao.1_Intron	NM_032131	NP_115507			armadillo repeat containing 2								binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)														---	---	---	---
MICALL2	79778	broad.mit.edu	37	7	1474430	1474431	+	Intron	INS	-	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1474430_1474431insG	uc003skj.3	-						MICALL2_uc003skh.3_Intron|MICALL2_uc003ski.3_Intron	NM_182924	NP_891554			MICAL-like 2 isoform 1							cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)														---	---	---	---
C7orf47	221908	broad.mit.edu	37	7	100033266	100033270	+	Frame_Shift_Del	DEL	GGCTC	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100033266_100033270delGGCTC	uc003uuy.1	-	3	669_673	c.572_576delGAGCC	c.(571-576)CGAGCCfs	p.R191fs	C7orf47_uc003uux.1_Frame_Shift_Del_p.R89fs	NM_145030	NP_659467	Q8TAP8	CG047_HUMAN	hypothetical protein LOC221908	191_192										ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111474750	111474750	+	Intron	DEL	A	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:111474750delA	uc003vfx.2	-						DOCK4_uc003vfw.2_Intron|DOCK4_uc003vfy.2_Intron	NM_014705	NP_055520			dedicator of cytokinesis 4						cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)																---	---	---	---
NRG1	3084	broad.mit.edu	37	8	32612095	32612095	+	Intron	DEL	A	-	-	rs76017751		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:32612095delA	uc003xiv.2	+						NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Intron|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc011lbg.1_Intron|NRG1_uc011lbh.1_Intron|NRG1_uc003xja.2_Intron	NM_013964	NP_039258			neuregulin 1 isoform HRG-alpha						activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68049569	68049569	+	Intron	DEL	A	-	-	rs34987713		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68049569delA	uc003xxi.2	+						CSPP1_uc003xxg.1_Intron|CSPP1_uc003xxh.1_Intron|CSPP1_uc003xxj.2_Intron|CSPP1_uc003xxk.2_Intron	NM_001077204	NP_001070672			centrosome spindle pole associated protein 1							centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)															---	---	---	---
KIAA1432	57589	broad.mit.edu	37	9	5720356	5720358	+	Intron	DEL	GTT	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5720356_5720358delGTT	uc003zji.2	+						KIAA1432_uc003zjh.2_Intron|KIAA1432_uc003zjl.3_Intron|KIAA1432_uc003zjj.1_Intron	NM_020829	NP_065880			connexin 43-interacting protein 150 isoform a							integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)														---	---	---	---
Unknown	0	broad.mit.edu	37	9	43840027	43840028	+	Intron	INS	-	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:43840027_43840028insT	uc004acz.1	+											Homo sapiens cDNA FLJ30083 fis, clone BGGI12001097, weakly similar to Homo sapiens contactin associated protein (Caspr) mRNA.																														---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78506448	78506453	+	Intron	DEL	CACACA	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:78506448_78506453delCACACA	uc004ajz.2	+						PCSK5_uc004ajy.2_Intron|PCSK5_uc004aka.2_Intron	NM_006200	NP_006191			proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3																		---	---	---	---
CAMK1D	57118	broad.mit.edu	37	10	12870642	12870643	+	Intron	INS	-	A	A	rs72066238		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:12870642_12870643insA	uc001ilo.2	+							NM_153498	NP_705718			calcium/calmodulin-dependent protein kinase ID							calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|stomach(1)	2				GBM - Glioblastoma multiforme(1;3.16e-05)														---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18331413	18331413	+	Intron	DEL	G	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18331413delG	uc001ipo.2	+						SLC39A12_uc001ipn.2_Intron|SLC39A12_uc001ipp.2_Intron|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667			solute carrier family 39 (zinc transporter),						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2																		---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	-	-	rs144216147		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1651191_1651199delGGCTGTGGA	uc001lty.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)GGCTGTGGAdel	p.GCG47del		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47_49						keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)														---	---	---	---
OR51B6	390058	broad.mit.edu	37	11	5373309	5373309	+	Frame_Shift_Del	DEL	C	-	-	rs115333544	byFrequency	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5373309delC	uc010qzb.1	+	1	572	c.572delC	c.(571-573)ACCfs	p.T191fs	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40677983	40677983	+	Intron	DEL	T	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40677983delT	uc001rmg.3	+						LRRK2_uc001rmh.1_Intron	NM_198578	NP_940980			leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)																---	---	---	---
DCN	1634	broad.mit.edu	37	12	91540127	91540127	+	Intron	DEL	A	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:91540127delA	uc001tbs.2	-						DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Intron|DCN_uc001tbu.2_Intron	NM_133503	NP_598010			decorin isoform a preproprotein						organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4																		---	---	---	---
SNW1	22938	broad.mit.edu	37	14	78185057	78185057	+	Intron	DEL	T	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:78185057delT	uc001xuf.2	-						SNW1_uc010tvm.1_Intron|SNW1_uc010asu.2_Intron|SNW1_uc010tvn.1_Intron	NM_012245	NP_036377			SKI-interacting protein						negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)														---	---	---	---
TTC7B	145567	broad.mit.edu	37	14	91233373	91233373	+	Intron	DEL	A	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91233373delA	uc001xyp.2	-							NM_001010854	NP_001010854			tetratricopeptide repeat domain 7B								binding			ovary(2)	2		Melanoma(154;0.222)																---	---	---	---
BNIP2	663	broad.mit.edu	37	15	59960956	59960957	+	Intron	INS	-	AC	AC	rs140314308	by1000genomes	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59960956_59960957insAC	uc010uhc.1	-						BNIP2_uc002agi.3_Intron|BNIP2_uc010uhb.1_Intron	NM_004330	NP_004321			BCL2/adenovirus E1B 19kD interacting protein 2						anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	21896075	21896075	+	Intron	DEL	T	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21896075delT	uc002djs.3	-						uc010vbo.1_Intron|uc002dju.1_Intron					Homo sapiens cDNA FLJ45371 fis, clone BRHIP3017855, highly  similar to Homo sapiens nuclear pore complex interacting protein (NPIP).																														---	---	---	---
GAN	8139	broad.mit.edu	37	16	81387847	81387847	+	Intron	DEL	A	-	-	rs139978939		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81387847delA	uc002fgo.2	+							NM_022041	NP_071324			gigaxonin						cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)																---	---	---	---
LRRC50	123872	broad.mit.edu	37	16	84193579	84193579	+	Intron	DEL	T	-	-	rs11292642		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84193579delT	uc002fhl.3	+						LRRC50_uc010vnw.1_Intron	NM_178452	NP_848547			leucine rich repeat containing 50						axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0														Kartagener_syndrome				---	---	---	---
TOM1L1	10040	broad.mit.edu	37	17	53016156	53016157	+	Intron	DEL	TT	-	-	rs71361741		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53016156_53016157delTT	uc002iud.2	+						TOM1L1_uc010dca.1_Intron|TOM1L1_uc010wnb.1_Intron|TOM1L1_uc010wnc.1_Intron|TOM1L1_uc010dbz.2_Intron|TOM1L1_uc010wnd.1_Intron|TOM1L1_uc010dcb.1_Intron	NM_005486	NP_005477			target of myb1-like 1						intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			ovary(1)	1																		---	---	---	---
MED13	9969	broad.mit.edu	37	17	60070140	60070141	+	Intron	INS	-	T	T	rs138009503	by1000genomes	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60070140_60070141insT	uc002izo.2	-							NM_005121	NP_005112			mediator complex subunit 13						androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(1)|ovary(1)	2																		---	---	---	---
DSC3	1825	broad.mit.edu	37	18	28574550	28574551	+	Intron	INS	-	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28574550_28574551insA	uc002kwj.3	-						DSC3_uc002kwi.3_Intron	NM_001941	NP_001932			desmocollin 3 isoform Dsc3a preproprotein						homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)															---	---	---	---
GPR108	56927	broad.mit.edu	37	19	6732946	6732947	+	Intron	INS	-	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6732946_6732947insG	uc002mfp.2	-						GPR108_uc010duv.2_5'Flank|GPR108_uc002mfn.2_Intron|GPR108_uc002mfo.3_Intron|GPR108_uc010duw.2_Intron	NM_001080452	NP_001073921			G protein-coupled receptor 108 isoform 1							integral to membrane					0																		---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6853742	6853742	+	Intron	DEL	A	-	-	rs79422784		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6853742delA	uc002mfu.1	+						VAV1_uc010xjh.1_Intron|VAV1_uc010dva.1_Intron|VAV1_uc002mfv.1_Intron	NM_005428	NP_005419			vav 1 guanine nucleotide exchange factor						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16																		---	---	---	---
PCP2	126006	broad.mit.edu	37	19	7698226	7698227	+	Intron	INS	-	TAAT	TAAT	rs151032321	by1000genomes	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7698226_7698227insTAAT	uc002mgz.2	-							NM_174895	NP_777555			Purkinje cell protein 2						signal transduction		GTPase activator activity				0																		---	---	---	---
NUMBL	9253	broad.mit.edu	37	19	41173875	41173877	+	In_Frame_Del	DEL	TGC	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41173875_41173877delTGC	uc002oon.2	-	10	1494_1496	c.1326_1328delGCA	c.(1324-1329)CAGCAA>CAA	p.442_443QQ>Q	NUMBL_uc010xvq.1_In_Frame_Del_p.401_402QQ>Q|NUMBL_uc002ooo.2_In_Frame_Del_p.441_442QQ>Q|NUMBL_uc010xvr.1_In_Frame_Del_p.401_402QQ>Q	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	442_443	Poly-Gln.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			lung(3)|ovary(1)|breast(1)	5			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)															---	---	---	---
ZNF335	63925	broad.mit.edu	37	20	44586694	44586695	+	Intron	INS	-	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44586694_44586695insT	uc002xqw.2	-						ZNF335_uc010zxk.1_Intron	NM_022095	NP_071378			zinc finger protein 335						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)																---	---	---	---
USP18	11274	broad.mit.edu	37	22	18650483	18650485	+	Intron	DEL	AAG	-	-	rs71184776		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18650483_18650485delAAG	uc002zny.2	+							NM_017414	NP_059110			ubiquitin specific protease 18						regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)	1																		---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21140123	21140123	+	Intron	DEL	G	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21140123delG	uc002zsz.3	-						SERPIND1_uc002ztb.1_Intron|SERPIND1_uc002ztc.2_Intron	NM_058004	NP_477352			phosphatidylinositol 4-kinase type 3 alpha						phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)															---	---	---	---
TRMU	55687	broad.mit.edu	37	22	46745993	46745994	+	Intron	INS	-	T	T	rs72489274		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46745993_46745994insT	uc003bhp.2	+						TRMU_uc011arb.1_Intron|TRMU_uc003bhq.2_Intron|TRMU_uc003bhs.2_Intron|TRMU_uc003bhr.2_Intron|TRMU_uc003bht.2_Intron|TRMU_uc003bhu.2_Intron|TRMU_uc003bhv.2_Intron	NM_018006	NP_060476			tRNA 5-methylaminomethyl-2-thiouridylate							mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			ovary(1)	1		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)														---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70602789	70602789	+	Intron	DEL	T	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70602789delT	uc004dzu.3	+						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Intron	NM_138923	NP_620278			TBP-associated factor 1 isoform 2						G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)																---	---	---	---
HMGN5	79366	broad.mit.edu	37	X	80373886	80373886	+	Intron	DEL	A	-	-			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:80373886delA	uc004eee.1	-							NM_030763	NP_110390			high-mobility group nucleosome binding domain 5						chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	chromatin binding|DNA binding			lung(1)	1																		---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135498824	135498825	+	3'UTR	INS	-	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135498824_135498825insA	uc004ezu.1	+	26					GPR112_uc010nsb.1_3'UTR	NM_153834	NP_722576			G-protein coupled receptor 112						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
CA6	765	broad.mit.edu	37	1	9011622	9011622	+	Intron	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9011622G>A	uc001apm.2	+						CA6_uc009vmn.2_Intron	NM_001215	NP_001206			carbonic anhydrase VI precursor						one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			ovary(2)	2	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
USP48	84196	broad.mit.edu	37	1	22032676	22032676	+	Missense_Mutation	SNP	G	A	A	rs150117994		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22032676G>A	uc001bfb.2	-	18	2454	c.2216C>T	c.(2215-2217)ACG>ATG	p.T739M	USP48_uc001bfa.2_Missense_Mutation_p.T277M|USP48_uc010odq.1_Missense_Mutation_p.T751M|USP48_uc009vqc.2_Missense_Mutation_p.T673M|USP48_uc001bfc.2_Missense_Mutation_p.T739M|USP48_uc001bfd.1_5'Flank	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	739	DUSP 3.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		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)														---	---	---	---
ZDHHC18	84243	broad.mit.edu	37	1	27176839	27176839	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27176839C>T	uc001bnb.2	+	4	789	c.694C>T	c.(694-696)CGG>TGG	p.R232W	ZDHHC18_uc010ofh.1_Missense_Mutation_p.R97W	NM_032283	NP_115659	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18	232	DHHC-type.					integral to membrane	zinc ion binding				0		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)														---	---	---	---
GPR3	2827	broad.mit.edu	37	1	27721178	27721178	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27721178C>T	uc001bod.2	+	2	971	c.876C>T	c.(874-876)ATC>ATT	p.I292I		NM_005281	NP_005272	P46089	GPR3_HUMAN	G protein-coupled receptor 3	292	Helical; Name=7; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				ovary(1)	1		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34238227	34238227	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34238227T>C	uc001bxn.1	-	13	1698	c.1669A>G	c.(1669-1671)AAG>GAG	p.K557E	CSMD2_uc001bxm.1_Missense_Mutation_p.K597E	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	557	Sushi 3.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
INPP5B	3633	broad.mit.edu	37	1	38351367	38351367	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38351367C>T	uc001ccg.1	-	13	1356	c.1262G>A	c.(1261-1263)CGA>CAA	p.R421Q	INPP5B_uc009vvk.1_Missense_Mutation_p.R362Q|INPP5B_uc001ccf.1_Missense_Mutation_p.R257Q|INPP5B_uc010oij.1_Intron	NM_005540	NP_005531	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	501					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			urinary_tract(1)	1	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)																---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42050416	42050416	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42050416C>T	uc001cgz.3	-	4	1266	c.53G>A	c.(52-54)CGG>CAG	p.R18Q	HIVEP3_uc001cha.3_Missense_Mutation_p.R18Q|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	18					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
SLC2A1	6513	broad.mit.edu	37	1	43393459	43393459	+	Silent	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43393459G>T	uc001cik.2	-	9	1620	c.1095C>A	c.(1093-1095)TCC>TCA	p.S365S		NM_006516	NP_006507	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose	365	Extracellular (Potential).				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(2)|pancreas(2)|ovary(1)	5	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)													---	---	---	---
C1orf168	199920	broad.mit.edu	37	1	57257958	57257958	+	Silent	SNP	C	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57257958C>A	uc001cym.3	-	2	934	c.528G>T	c.(526-528)GGG>GGT	p.G176G	C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.G176G	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	176										ovary(3)|skin(2)	5																		---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109801247	109801247	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109801247C>T	uc001dxa.3	+	2	3565	c.3504C>T	c.(3502-3504)AAC>AAT	p.N1168N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1168	Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)														---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118566057	118566057	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118566057C>T	uc001ehk.2	-	28	4007	c.3939G>A	c.(3937-3939)AGG>AGA	p.R1313R		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1313						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)														---	---	---	---
SF3B4	10262	broad.mit.edu	37	1	149895490	149895490	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149895490T>A	uc001etj.1	-	6	1270	c.1219A>T	c.(1219-1221)ACT>TCT	p.T407S	SF3B4_uc001eti.1_Missense_Mutation_p.T171S|SF3B4_uc001etk.1_Missense_Mutation_p.T407S	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4	407						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---
FLG	2312	broad.mit.edu	37	1	152277533	152277533	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152277533G>A	uc001ezu.1	-	3	9865	c.9829C>T	c.(9829-9831)CGT>TGT	p.R3277C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	3277	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---
ADAM15	8751	broad.mit.edu	37	1	155028289	155028289	+	Silent	SNP	C	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155028289C>G	uc001fgr.1	+	7	737	c.636C>G	c.(634-636)ACC>ACG	p.T212T	ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_RNA|ADAM15_uc010pet.1_Silent_p.T196T|ADAM15_uc010peu.1_Silent_p.T229T|ADAM15_uc001fgt.1_Silent_p.T212T|ADAM15_uc010pev.1_Silent_p.T222T|ADAM15_uc001fgs.1_Silent_p.T212T|ADAM15_uc001fgu.1_Silent_p.T212T|ADAM15_uc001fgw.1_Silent_p.T212T|ADAM15_uc001fgv.1_Silent_p.T212T|ADAM15_uc001fgx.1_Silent_p.T212T|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	212	Extracellular (Potential).				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)															---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160105320	160105320	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160105320G>A	uc001fvc.2	+	16	2344	c.2212G>A	c.(2212-2214)GTC>ATC	p.V738I	ATP1A2_uc001fvb.2_Missense_Mutation_p.V738I|ATP1A2_uc001fvd.2_Missense_Mutation_p.V474I	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	738	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160607204	160607204	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160607204G>A	uc001fwl.3	-	2	538	c.192C>T	c.(190-192)GTC>GTT	p.V64V	SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Silent_p.V64V	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family	64	Extracellular (Potential).				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			ovary(1)|breast(1)	2	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
OLFML2B	25903	broad.mit.edu	37	1	161954658	161954658	+	Silent	SNP	G	A	A	rs138789156	by1000genomes	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161954658G>A	uc001gbu.2	-	7	2011	c.1587C>T	c.(1585-1587)TAC>TAT	p.Y529Y	OLFML2B_uc001gbt.2_Silent_p.Y12Y|OLFML2B_uc010pkq.1_Silent_p.Y530Y	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	529	Olfactomedin-like.									skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)															---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180062030	180062030	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180062030A>G	uc001gnt.2	+	34	7173	c.6790A>G	c.(6790-6792)ACA>GCA	p.T2264A	CEP350_uc009wxl.2_Missense_Mutation_p.T2263A|CEP350_uc001gnv.2_Missense_Mutation_p.T399A|CEP350_uc001gnw.1_Missense_Mutation_p.T21A|CEP350_uc001gnx.1_Missense_Mutation_p.T21A	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2264						centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186055473	186055473	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186055473C>G	uc001grq.1	+	58	9209	c.8980C>G	c.(8980-8982)CCT>GCT	p.P2994A		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2994	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
LGTN	1939	broad.mit.edu	37	1	206776401	206776401	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206776401G>A	uc001heh.2	-	6	897	c.688C>T	c.(688-690)CAC>TAC	p.H230Y	LGTN_uc009xbw.2_Intron	NM_006893	NP_008824	P41214	EIF2D_HUMAN	ligatin	230					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
TTC13	79573	broad.mit.edu	37	1	231056309	231056309	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231056309G>A	uc001huf.3	-	17	1961	c.1930C>T	c.(1930-1932)CGG>TGG	p.R644W	TTC13_uc009xfi.2_Missense_Mutation_p.R591W|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.R591W|TTC13_uc009xfk.1_Missense_Mutation_p.R534W	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	644							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)														---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237886549	237886549	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237886549T>C	uc001hyl.1	+	74	10796	c.10676T>C	c.(10675-10677)TTT>TCT	p.F3559S	RYR2_uc010pxz.1_Missense_Mutation_p.F514S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3559					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|cytosol|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)															---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237961336	237961336	+	Splice_Site	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237961336G>A	uc001hyl.1	+	97	14077	c.13957_splice	c.e97-1	p.V4653_splice	RYR2_uc010pyb.1_Splice_Site_p.V86_splice	NM_001035	NP_001026			cardiac muscle ryanodine receptor						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|cytosol|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)															---	---	---	---
TSSC1	7260	broad.mit.edu	37	2	3196198	3196198	+	Missense_Mutation	SNP	G	A	A	rs141014675	by1000genomes	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:3196198G>A	uc002qxj.2	-	8	1169	c.976C>T	c.(976-978)CGT>TGT	p.R326C	TSSC1_uc002qxi.2_RNA	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	326							protein binding				0	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)														---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28785965	28785965	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:28785965C>T	uc002rmb.1	+	18	1205	c.1205C>T	c.(1204-1206)ACG>ATG	p.T402M	PLB1_uc010ezj.1_Missense_Mutation_p.T413M|PLB1_uc002rmc.2_Missense_Mutation_p.T90M	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	402	4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
SLC30A6	55676	broad.mit.edu	37	2	32399183	32399183	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32399183C>T	uc002roe.1	+	3	179	c.142C>T	c.(142-144)CTG>TTG	p.L48L	SLC30A6_uc002rof.1_Silent_p.L48L|SLC30A6_uc010ymw.1_Silent_p.L19L|SLC30A6_uc010ezr.1_Silent_p.L48L|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Intron|SLC30A6_uc002roh.1_Intron	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter),	48	Helical; (Potential).					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)																	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49195900	49195900	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:49195900A>T	uc002rww.2	-	9	865	c.791T>A	c.(790-792)CTC>CAC	p.L264H	FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Missense_Mutation_p.L238H	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	264	Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									Gonadal_Dysgenesis_46_XX				---	---	---	---
NCAPH	23397	broad.mit.edu	37	2	97031660	97031660	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97031660C>T	uc002svz.1	+	14	1829	c.1745C>T	c.(1744-1746)CCT>CTT	p.P582L	NCAPH_uc010fhv.1_Missense_Mutation_p.P571L|NCAPH_uc010yum.1_Missense_Mutation_p.P558L|NCAPH_uc010fhw.1_Missense_Mutation_p.P571L|NCAPH_uc010yun.1_Missense_Mutation_p.P446L|NCAPH_uc002swa.1_Missense_Mutation_p.P177L	NM_015341	NP_056156	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	582					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				urinary_tract(1)|skin(1)	2		Ovarian(717;0.0221)																---	---	---	---
TBC1D8	11138	broad.mit.edu	37	2	101654162	101654162	+	Silent	SNP	G	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101654162G>C	uc010fiv.2	-	8	1370	c.1239C>G	c.(1237-1239)CTC>CTG	p.L413L	TBC1D8_uc010yvw.1_Silent_p.L428L|TBC1D8_uc002tau.3_Silent_p.L170L	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	413					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3																		---	---	---	---
SULT1C4	27233	broad.mit.edu	37	2	108999963	108999963	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:108999963G>A	uc002tea.1	+	5	985	c.612G>A	c.(610-612)AAG>AAA	p.K204K	SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Silent_p.K129K	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	204	PAPS.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0																		---	---	---	---
BUB1	699	broad.mit.edu	37	2	111399257	111399257	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:111399257C>G	uc002tgc.2	-	21	2699	c.2587G>C	c.(2587-2589)GTA>CTA	p.V863L	BUB1_uc010yxh.1_Missense_Mutation_p.V843L|BUB1_uc010fkb.2_Missense_Mutation_p.V863L	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	863	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)														---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135848643	135848643	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135848643C>T	uc002tuj.2	+	4	251	c.226C>T	c.(226-228)CAT>TAT	p.H76Y	RAB3GAP1_uc010fnf.2_Missense_Mutation_p.H76Y|RAB3GAP1_uc010fng.2_5'UTR|RAB3GAP1_uc010fnh.1_RNA	NM_012233	NP_036365	Q15042	RB3GP_HUMAN	RAB3 GTPase-activating protein	76						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---
LCT	3938	broad.mit.edu	37	2	136575399	136575399	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136575399C>G	uc002tuu.1	-	6	1230	c.1219G>C	c.(1219-1221)GGG>CGG	p.G407R		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	407	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)														---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141459402	141459402	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141459402G>A	uc002tvj.1	-	40	7287	c.6315C>T	c.(6313-6315)AAC>AAT	p.N2105N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2105	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		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)											TSP Lung(27;0.18)			---	---	---	---
GPR155	151556	broad.mit.edu	37	2	175346609	175346609	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175346609G>T	uc002uit.2	-	3	467	c.76C>A	c.(76-78)CAT>AAT	p.H26N	GPR155_uc002uiu.2_Missense_Mutation_p.H26N|GPR155_uc002uiv.2_Missense_Mutation_p.H26N|GPR155_uc010fqs.2_Missense_Mutation_p.H26N	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	26					intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1																		---	---	---	---
TTN	7273	broad.mit.edu	37	2	179410279	179410279	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179410279C>T	uc010zfg.1	-	293	88078	c.87854G>A	c.(87853-87855)CGC>CAC	p.R29285H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22980H|TTN_uc010zfi.1_Missense_Mutation_p.R22913H|TTN_uc010zfj.1_Missense_Mutation_p.R22788H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30212							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179456552	179456552	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179456552C>T	uc010zfg.1	-	252	52514	c.52290G>A	c.(52288-52290)TGG>TGA	p.W17430*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.W11125*|TTN_uc010zfi.1_Nonsense_Mutation_p.W11058*|TTN_uc010zfj.1_Nonsense_Mutation_p.W10933*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	18357							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179489303	179489303	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179489303C>T	uc010zfg.1	-	191	37224	c.37000G>A	c.(37000-37002)GCT>ACT	p.A12334T	TTN_uc010zfh.1_Missense_Mutation_p.A6029T|TTN_uc010zfi.1_Missense_Mutation_p.A5962T|TTN_uc010zfj.1_Missense_Mutation_p.A5837T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13261							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)															---	---	---	---
NCKAP1	10787	broad.mit.edu	37	2	183846105	183846105	+	Splice_Site	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183846105C>T	uc002upc.2	-	13	1611	c.1209_splice	c.e13-1	p.K403_splice	NCKAP1_uc002upb.2_Splice_Site_p.K409_splice	NM_013436	NP_038464			NCK-associated protein 1 isoform 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)															---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187490295	187490295	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187490295G>T	uc002upq.2	+	4	780	c.504G>T	c.(502-504)GAG>GAT	p.E168D	ITGAV_uc010frs.2_Missense_Mutation_p.E168D|ITGAV_uc010zfv.1_Missense_Mutation_p.E122D	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	168	FG-GAP 2.|Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)														---	---	---	---
OBSL1	23363	broad.mit.edu	37	2	220421289	220421289	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220421289G>A	uc010fwk.2	-	13	4280	c.4223C>T	c.(4222-4224)GCC>GTC	p.A1408V	OBSL1_uc002vmh.1_Missense_Mutation_p.A307V|OBSL1_uc010zli.1_Missense_Mutation_p.A215V|OBSL1_uc010fwl.1_Missense_Mutation_p.A883V	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1408	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)														---	---	---	---
HJURP	55355	broad.mit.edu	37	2	234750099	234750099	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234750099G>A	uc002vvg.2	-	8	1393	c.1327C>T	c.(1327-1329)CGG>TGG	p.R443W	HJURP_uc010znd.1_Missense_Mutation_p.R382W|HJURP_uc010zne.1_Missense_Mutation_p.R351W	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	443					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)														---	---	---	---
MTMR14	64419	broad.mit.edu	37	3	9704013	9704013	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9704013G>A	uc003brz.2	+	3	495	c.371G>A	c.(370-372)CGG>CAG	p.R124Q	MTMR14_uc003bsa.2_Missense_Mutation_p.R124Q|MTMR14_uc003bsb.2_Missense_Mutation_p.R124Q|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	124						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)																	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10400407	10400407	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10400407C>T	uc003bvt.2	-	14	2543	c.2104G>A	c.(2104-2106)GTG>ATG	p.V702M	ATP2B2_uc003bvv.2_Missense_Mutation_p.V657M|ATP2B2_uc003bvw.2_Missense_Mutation_p.V657M|ATP2B2_uc010hdo.2_Missense_Mutation_p.V407M	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	702	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
CCDC13	152206	broad.mit.edu	37	3	42794186	42794186	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42794186C>T	uc003cly.3	-	4	478	c.394G>A	c.(394-396)GTG>ATG	p.V132M	CCDC13_uc003clz.2_Missense_Mutation_p.V132M|CCDC13_uc011azq.1_Missense_Mutation_p.V132M	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	132										ovary(1)	1																		---	---	---	---
XCR1	2829	broad.mit.edu	37	3	46062453	46062453	+	Silent	SNP	G	A	A	rs148878887	byFrequency;by1000genomes	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46062453G>A	uc003cpe.2	-	3	1211	c.987C>T	c.(985-987)GGC>GGT	p.G329G	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Silent_p.G329G	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	329	Cytoplasmic (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)														---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52420183	52420183	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52420183C>T	uc011bef.1	+	55	8894	c.8633C>T	c.(8632-8634)ACG>ATG	p.T2878M	DNAH1_uc003ddv.2_Translation_Start_Site	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2878	Potential.|Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62467417	62467417	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:62467417C>T	uc003dll.2	-	22	3514	c.3154G>A	c.(3154-3156)GCT>ACT	p.A1052T	CADPS_uc003dlj.1_Missense_Mutation_p.A2T|CADPS_uc003dlk.1_Intron|CADPS_uc003dlm.2_Intron|CADPS_uc003dln.2_Intron	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Ca2+-dependent secretion activator isoform 1	1052	MHD1.|Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			central_nervous_system(2)|ovary(1)	3		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)														---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108107879	108107879	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108107879T>C	uc003dxa.1	-	39	5590	c.5533A>G	c.(5533-5535)AGT>GGT	p.S1845G		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1845	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7																		---	---	---	---
SIAH2	6478	broad.mit.edu	37	3	150480301	150480301	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150480301C>T	uc003eyi.2	-	1	963	c.336G>A	c.(334-336)CCG>CCA	p.P112P		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	112	RING-type.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179525543	179525543	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179525543G>A	uc003fki.1	-	14	1725	c.1595C>T	c.(1594-1596)ACG>ATG	p.T532M	PEX5L_uc011bqd.1_Missense_Mutation_p.T489M|PEX5L_uc011bqe.1_Missense_Mutation_p.T340M|PEX5L_uc011bqf.1_Missense_Mutation_p.T424M|PEX5L_uc003fkj.1_Missense_Mutation_p.T497M|PEX5L_uc010hxd.1_Missense_Mutation_p.T530M|PEX5L_uc011bqg.1_Missense_Mutation_p.T508M|PEX5L_uc011bqh.1_Missense_Mutation_p.T473M	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	532	TPR 4.				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)															---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180359946	180359946	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180359946C>T	uc010hxe.2	-	13	1824	c.1709G>A	c.(1708-1710)CGT>CAT	p.R570H	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	570	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20525651	20525651	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20525651A>C	uc003gpr.1	+	14	1493	c.1289A>C	c.(1288-1290)AAC>ACC	p.N430T	SLIT2_uc003gps.1_Missense_Mutation_p.N430T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	430	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48578238	48578238	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48578238T>A	uc003gyh.1	-	24	3135	c.2530A>T	c.(2530-2532)AGC>TGC	p.S844C	FRYL_uc003gyk.2_Missense_Mutation_p.S844C	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
C4orf37	285555	broad.mit.edu	37	4	98633896	98633896	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:98633896C>T	uc003htt.1	-	10	1364	c.1274G>A	c.(1273-1275)CGC>CAC	p.R425H		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	425											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)														---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126411278	126411278	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126411278C>T	uc003ifj.3	+	17	13301	c.13301C>T	c.(13300-13302)CCG>CTG	p.P4434L	FAT4_uc011cgp.1_Missense_Mutation_p.P2675L|FAT4_uc003ifi.1_Missense_Mutation_p.P1911L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4434	EGF-like 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
PLK4	10733	broad.mit.edu	37	4	128807158	128807158	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128807158C>T	uc003ifo.2	+	5	878	c.633C>T	c.(631-633)TTC>TTT	p.F211F	PLK4_uc011cgs.1_Silent_p.F179F|PLK4_uc011cgt.1_Silent_p.F170F	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	211	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0																		---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5237152	5237152	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5237152C>T	uc003jdl.2	+	14	2232	c.2094C>T	c.(2092-2094)GTC>GTT	p.V698V	ADAMTS16_uc003jdk.1_Silent_p.V698V|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	698	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9227046	9227046	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9227046C>A	uc003jek.2	-	7	1079	c.367G>T	c.(367-369)GTG>TTG	p.V123L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	123	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
BASP1	10409	broad.mit.edu	37	5	17275368	17275368	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:17275368A>T	uc003jfx.2	+	2	222	c.43A>T	c.(43-45)AAC>TAC	p.N15Y		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	15					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding				0																		---	---	---	---
GHR	2690	broad.mit.edu	37	5	42629152	42629152	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:42629152T>A	uc003jmt.2	+	3	126	c.83T>A	c.(82-84)ATC>AAC	p.I28N	GHR_uc011cpq.1_5'UTR	NM_000163	NP_000154	P10912	GHR_HUMAN	growth hormone receptor precursor	28	Extracellular (Potential).				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			lung(4)|kidney(1)|skin(1)	6		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)													---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95748060	95748060	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:95748060G>A	uc003kls.1	-	7	1050	c.844C>T	c.(844-846)CGG>TGG	p.R282W	PCSK1_uc010jbi.1_Missense_Mutation_p.R43W	NM_000439	NP_000430	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	282	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			ovary(2)	2		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
LNPEP	4012	broad.mit.edu	37	5	96320901	96320901	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96320901C>T	uc003kmv.1	+	3	1492	c.978C>T	c.(976-978)ACC>ACT	p.T326T	LNPEP_uc003kmw.1_Silent_p.T312T	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase isoform 1	326	Extracellular (Potential).				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)														---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140175691	140175691	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140175691C>T	uc003lhd.2	+	1	1248	c.1142C>T	c.(1141-1143)ACG>ATG	p.T381M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.T381M|PCDHA2_uc011czy.1_Missense_Mutation_p.T381M	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	381	Cadherin 4.|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)															---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148680686	148680686	+	Intron	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148680686C>T	uc003lqh.2	+						AFAP1L1_uc003lqg.3_Intron|AFAP1L1_uc010jgy.2_Intron	NM_152406	NP_689619			actin filament associated protein 1-like 1								protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
DEK	7913	broad.mit.edu	37	6	18256032	18256032	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18256032C>G	uc003ncr.1	-	6	696	c.503G>C	c.(502-504)AGA>ACA	p.R168T	DEK_uc011djf.1_Missense_Mutation_p.R134T|DEK_uc011djg.1_RNA	NM_003472	NP_003463	P35659	DEK_HUMAN	DEK oncogene isoform 1	168	SAP.				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			kidney(1)	1	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)					T	NUP214	AML								---	---	---	---
NKAPL	222698	broad.mit.edu	37	6	28227362	28227362	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28227362G>A	uc003nkt.2	+	1	265	c.213G>A	c.(211-213)TCG>TCA	p.S71S	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	71										upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32029299	32029299	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32029299C>T	uc003nzl.2	-	21	7569	c.7367G>A	c.(7366-7368)CGT>CAT	p.R2456H		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	2516	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
C6orf1	221491	broad.mit.edu	37	6	34214426	34214426	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34214426G>A	uc003ojf.2	-	5	937	c.345C>T	c.(343-345)GCC>GCT	p.A115A	uc003oje.1_5'Flank|C6orf1_uc003ojg.2_Silent_p.A115A|C6orf1_uc003ojh.2_Silent_p.A115A|C6orf1_uc003oji.2_RNA	NM_178508	NP_848603	Q86T20	CF001_HUMAN	hypothetical protein LOC221491 precursor	115						extracellular region					0		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)												OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TULP1	7287	broad.mit.edu	37	6	35466196	35466196	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35466196C>T	uc003okv.3	-	15	1549	c.1537G>A	c.(1537-1539)GCC>ACC	p.A513T	TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Missense_Mutation_p.A460T	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	513					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
DEFB110	245913	broad.mit.edu	37	6	49976943	49976943	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49976943C>T	uc011dwr.1	-	2	143	c.97G>A	c.(97-99)GAA>AAA	p.E33K		NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN	beta-defensin 110 isoform b	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)																	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69772895	69772895	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69772895G>A	uc003pev.3	+	16	2851	c.2403G>A	c.(2401-2403)TCG>TCA	p.S801S	BAI3_uc010kak.2_Silent_p.S801S	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	801	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---
EYA4	2070	broad.mit.edu	37	6	133595917	133595917	+	5'UTR	SNP	A	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133595917A>G	uc003qec.3	+	2					EYA4_uc011ecq.1_5'UTR|EYA4_uc011ecr.1_5'UTR|EYA4_uc003qed.3_5'UTR|EYA4_uc003qee.3_5'UTR|EYA4_uc011ecs.1_5'UTR	NM_004100	NP_004091			eyes absent 4 isoform a						anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)														---	---	---	---
SLC22A1	6580	broad.mit.edu	37	6	160543066	160543066	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160543066G>A	uc003qtc.2	+	1	204	c.99G>A	c.(97-99)GCG>GCA	p.A33A	SLC22A1_uc003qtd.2_Silent_p.A33A	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	33	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)														---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	169051367	169051367	+	Missense_Mutation	SNP	C	T	T	rs148223188		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:169051367C>T	uc003qws.1	+	10	934	c.914C>T	c.(913-915)CCG>CTG	p.P305L	SMOC2_uc003qwr.1_Missense_Mutation_p.P316L|SMOC2_uc011egu.1_5'UTR	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	305					signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)														---	---	---	---
TMEM195	392636	broad.mit.edu	37	7	15425182	15425182	+	Silent	SNP	G	A	A	rs137980424	byFrequency	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:15425182G>A	uc003stb.1	-	10	1133	c.963C>T	c.(961-963)ACC>ACT	p.T321T		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	321					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0																		---	---	---	---
GGCT	79017	broad.mit.edu	37	7	30544315	30544315	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30544315G>T	uc003tba.2	-	1	138	c.11C>A	c.(10-12)TCG>TAG	p.S4*	GGCT_uc003tbb.2_Nonsense_Mutation_p.S4*|GGCT_uc003tbc.2_RNA	NM_024051	NP_076956	O75223	GGCT_HUMAN	gamma-glutamyl cyclotransferase	4					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity				0																		---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42004251	42004251	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:42004251C>T	uc011kbh.1	-	15	4511	c.4420G>A	c.(4420-4422)GCC>ACC	p.A1474T	GLI3_uc011kbg.1_Missense_Mutation_p.A1415T	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1474					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19														Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				---	---	---	---
STAG3L4	64940	broad.mit.edu	37	7	66774084	66774084	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66774084G>T	uc003tvt.3	+	3	517	c.250G>T	c.(250-252)GAC>TAC	p.D84Y	STAG3L4_uc010laj.2_RNA	NM_022906	NP_075057	Q8TBR4	STG34_HUMAN	stromal antigen 3-like 4	84											0		Lung NSC(55;0.0839)|all_lung(88;0.181)																---	---	---	---
LAT2	7462	broad.mit.edu	37	7	73638356	73638356	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73638356C>T	uc003uag.2	+	12	1007	c.457C>T	c.(457-459)CAG>TAG	p.Q153*	RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Nonsense_Mutation_p.Q153*|LAT2_uc003uai.2_Nonsense_Mutation_p.Q153*|LAT2_uc010lbo.2_RNA	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family member	153	Cytoplasmic (Potential).				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding				0																		---	---	---	---
UPK3B	80761	broad.mit.edu	37	7	76140158	76140158	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76140158G>A	uc003ufq.2	+	1	414	c.189G>A	c.(187-189)GAG>GAA	p.E63E	UPK3B_uc003ufo.2_Intron|UPK3B_uc010ldk.1_Intron	NM_030570	NP_085047	Q9BT76	UPK3B_HUMAN	uroplakin 3B isoform a	63	Lumenal (Potential).				negative regulation of gene expression	integral to membrane|plasma membrane				central_nervous_system(1)	1		Myeloproliferative disorder(862;0.204)																---	---	---	---
TECPR1	25851	broad.mit.edu	37	7	97860371	97860371	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97860371C>T	uc003upg.2	-	15	2389	c.2184G>A	c.(2182-2184)CCG>CCA	p.P728P	TECPR1_uc003uph.1_Silent_p.P658P	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	728						integral to membrane	protein binding			pancreas(1)	1																		---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98586497	98586497	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98586497C>T	uc003upp.2	+	62	9720	c.9511C>T	c.(9511-9513)CGG>TGG	p.R3171W	TRRAP_uc011kis.1_Missense_Mutation_p.R3142W|TRRAP_uc003upr.2_Missense_Mutation_p.R2859W	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3171	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100454554	100454554	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100454554C>T	uc003uwp.2	+	5	655	c.513C>T	c.(511-513)GGC>GGT	p.G171G	SLC12A9_uc003uwo.1_Silent_p.G82G|SLC12A9_uc003uwq.2_Silent_p.G82G|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'UTR|SLC12A9_uc003uwv.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	171	Helical; (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)																	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111386415	111386415	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:111386415C>T	uc003vfx.2	-	43	4894	c.4625G>A	c.(4624-4626)CGA>CAA	p.R1542Q	DOCK4_uc011kml.1_Missense_Mutation_p.R423Q|DOCK4_uc011kmm.1_Missense_Mutation_p.R449Q|DOCK4_uc003vfw.2_Missense_Mutation_p.R992Q|DOCK4_uc003vfy.2_Missense_Mutation_p.R1587Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1542	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)																---	---	---	---
C7orf53	286006	broad.mit.edu	37	7	112129968	112129968	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:112129968C>T	uc011kmq.1	+	4	495	c.360C>T	c.(358-360)CTC>CTT	p.L120L	C7orf53_uc003vgl.2_RNA|C7orf53_uc003vgm.2_Silent_p.L120L	NM_001134468	NP_001127940	Q8N8F7	CG053_HUMAN	hypothetical protein LOC286006	120	Potential.					integral to membrane				ovary(1)	1																		---	---	---	---
C8orf22	492307	broad.mit.edu	37	8	49985432	49985432	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:49985432C>A	uc003xqq.3	+	2	226	c.43C>A	c.(43-45)CAG>AAG	p.Q15K		NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN	hypothetical protein LOC492307	15											0		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)																---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73849466	73849466	+	Missense_Mutation	SNP	G	A	A	rs139648032		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73849466G>A	uc003xzb.2	+	3	2464	c.1876G>A	c.(1876-1878)GCC>ACC	p.A626T		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	626	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
CRISPLD1	83690	broad.mit.edu	37	8	75927099	75927099	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:75927099T>A	uc003yan.2	+	6	1054	c.679T>A	c.(679-681)TGC>AGC	p.C227S	CRISPLD1_uc011lfk.1_Missense_Mutation_p.C39S|CRISPLD1_uc011lfl.1_Missense_Mutation_p.C39S	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	227						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
WWP1	11059	broad.mit.edu	37	8	87470223	87470223	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87470223G>A	uc003ydt.2	+	22	2748	c.2468G>A	c.(2467-2469)AGA>AAA	p.R823K		NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	823	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2																		---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87656093	87656093	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87656093C>T	uc003ydx.2	-	10	1110	c.1064G>A	c.(1063-1065)CGA>CAA	p.R355Q	CNGB3_uc010maj.2_Missense_Mutation_p.R217Q	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	355	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3																		---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	114031299	114031299	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:114031299G>C	uc003ynu.2	-	6	1186	c.1027C>G	c.(1027-1029)CAA>GAA	p.Q343E	CSMD3_uc003ynt.2_Missense_Mutation_p.Q303E|CSMD3_uc011lhx.1_Missense_Mutation_p.Q343E|CSMD3_uc010mcx.1_Missense_Mutation_p.Q343E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	343	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
TRAPPC9	83696	broad.mit.edu	37	8	141034153	141034153	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141034153G>A	uc003yvj.2	-	18	2714	c.2580C>T	c.(2578-2580)TTC>TTT	p.F860F	TRAPPC9_uc003yvh.2_Silent_p.F958F|TRAPPC9_uc010mel.1_Silent_p.F281F|TRAPPC9_uc003yvi.1_Silent_p.F851F	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	860					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2																		---	---	---	---
INSL6	11172	broad.mit.edu	37	9	5185416	5185416	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5185416G>A	uc003zix.2	-	1	203	c.187C>T	c.(187-189)CGG>TGG	p.R63W		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	insulin-like 6 precursor	63						extracellular region	hormone activity				0	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)														---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20413763	20413763	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:20413763G>T	uc003zoe.2	-	5	1340	c.1081C>A	c.(1081-1083)CCC>ACC	p.P361T	MLLT3_uc011lne.1_Missense_Mutation_p.P329T|MLLT3_uc011lnf.1_Missense_Mutation_p.P358T|MLLT3_uc003zof.2_Missense_Mutation_p.P162T	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)				T	MLL	ALL								---	---	---	---
C9orf79	286234	broad.mit.edu	37	9	90500615	90500615	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90500615C>T	uc004app.3	+	4	1248	c.1213C>T	c.(1213-1215)CCC>TCC	p.P405S	C9orf79_uc004apo.1_Missense_Mutation_p.P217S	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	405						integral to membrane				ovary(3)	3																		---	---	---	---
PHF19	26147	broad.mit.edu	37	9	123624899	123624899	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123624899G>A	uc004bks.1	-	11	1350	c.1097C>T	c.(1096-1098)TCT>TTT	p.S366F	PHF19_uc011lyf.1_Missense_Mutation_p.S157F|PHF19_uc004bkr.2_RNA	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---
OR1N2	138882	broad.mit.edu	37	9	125315995	125315995	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125315995G>A	uc011lyx.1	+	1	547	c.547G>A	c.(547-549)GTG>ATG	p.V183M		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4																		---	---	---	---
ERCC6	2074	broad.mit.edu	37	10	50732109	50732109	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50732109C>T	uc001jhs.3	-	5	1521	c.1367G>A	c.(1366-1368)GGA>GAA	p.G456E	PGBD3_uc001jht.2_5'UTR|PGBD3_uc009xoe.2_Missense_Mutation_p.G456E|PGBD3_uc001jhu.2_Missense_Mutation_p.G456E	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	456					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16													Direct_reversal_of_damage|NER					---	---	---	---
GLUD1	2746	broad.mit.edu	37	10	88818962	88818962	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88818962G>A	uc001keh.2	-	10	1444	c.1347C>T	c.(1345-1347)GTC>GTT	p.V449V	GLUD1_uc001keg.2_Silent_p.V282V|GLUD1_uc010qmp.1_Silent_p.V316V	NM_005271	NP_005262	P00367	DHE3_HUMAN	glutamate dehydrogenase 1 precursor	449					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding				0					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---
DCLRE1A	9937	broad.mit.edu	37	10	115608783	115608783	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115608783C>T	uc001law.2	-	2	2999	c.2081G>A	c.(2080-2082)GGA>GAA	p.G694E		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	694					cell division|mitosis	nucleus	hydrolase activity			skin(2)	2				Epithelial(162;0.0157)|all cancers(201;0.0171)									Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	132965080	132965080	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:132965080C>T	uc001lkp.2	-	5	1011	c.925G>A	c.(925-927)GAT>AAT	p.D309N	TCERG1L_uc009yax.1_RNA	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	309										large_intestine(2)|ovary(2)	4		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)														---	---	---	---
EPS8L2	64787	broad.mit.edu	37	11	724768	724768	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:724768T>G	uc001lqt.2	+	16	1746	c.1499T>G	c.(1498-1500)CTG>CGG	p.L500R	EPS8L2_uc001lqu.2_Missense_Mutation_p.L500R|EPS8L2_uc010qwk.1_Missense_Mutation_p.L516R|EPS8L2_uc001lqv.2_Missense_Mutation_p.L455R|EPS8L2_uc001lqw.2_Missense_Mutation_p.L112R|EPS8L2_uc001lqx.2_Missense_Mutation_p.L112R|EPS8L2_uc001lqy.2_Missense_Mutation_p.L8R	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	500	SH3.					cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
OR52R1	119695	broad.mit.edu	37	11	4825678	4825678	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4825678G>C	uc010qym.1	-	1	170	c.170C>G	c.(169-171)ACT>AGT	p.T57S		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	Error:Variant_position_missing_in_Q8NGF1_after_alignment					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
HTATIP2	10553	broad.mit.edu	37	11	20403748	20403748	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20403748G>T	uc009yia.1	+	5	532	c.466G>T	c.(466-468)GAA>TAA	p.E156*	HTATIP2_uc009yib.1_Nonsense_Mutation_p.E156*|HTATIP2_uc001mpx.2_Nonsense_Mutation_p.E190*|HTATIP2_uc001mpz.2_Nonsense_Mutation_p.E156*	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa isoform	156					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity				0																		---	---	---	---
KIF18A	81930	broad.mit.edu	37	11	28098559	28098559	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:28098559C>G	uc001msc.2	-	10	1602	c.1420G>C	c.(1420-1422)GAA>CAA	p.E474Q		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	474					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2																		---	---	---	---
GLYAT	10249	broad.mit.edu	37	11	58477536	58477536	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58477536C>T	uc001nnb.2	-	6	749	c.594G>A	c.(592-594)GAG>GAA	p.E198E		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase isoform a	198					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity				0		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)													---	---	---	---
CTSW	1521	broad.mit.edu	37	11	65649722	65649722	+	Silent	SNP	T	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65649722T>A	uc001ogc.1	+	4	405	c.363T>A	c.(361-363)TCT>TCA	p.S121S	CTSW_uc001ogb.1_Silent_p.S121S	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	121					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)														---	---	---	---
FGF3	2248	broad.mit.edu	37	11	69625121	69625121	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:69625121G>A	uc001oph.2	-	3	1163	c.672C>T	c.(670-672)CAC>CAT	p.H224H		NM_005247	NP_005238	P11487	FGF3_HUMAN	fibroblast growth factor 3 precursor	224					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)															---	---	---	---
OR2AT4	341152	broad.mit.edu	37	11	74800770	74800770	+	5'Flank	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74800770G>T	uc010rro.1	-							NM_001005285	NP_001005285			olfactory receptor, family 2, subfamily AT,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
CXCR5	643	broad.mit.edu	37	11	118764730	118764730	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118764730C>T	uc001pue.3	+	2	587	c.477C>T	c.(475-477)CGC>CGT	p.R159R	CXCR5_uc001puf.2_Silent_p.R114R	NM_001716	NP_001707	P32302	CXCR5_HUMAN	Burkitt lymphoma receptor 1 isoform 1	159	Cytoplasmic (Potential).				B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)														---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118772974	118772974	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118772974G>A	uc001pug.2	-	6	2443	c.1478C>T	c.(1477-1479)CCG>CTG	p.P493L	BCL9L_uc009zal.2_Missense_Mutation_p.P488L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	493	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)														---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900713	123900713	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123900713G>A	uc001pzp.1	+	1	384	c.384G>A	c.(382-384)CCG>CCA	p.P128P		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)														---	---	---	---
VWF	7450	broad.mit.edu	37	12	6103352	6103352	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6103352C>T	uc001qnn.1	-	37	6524	c.6274G>A	c.(6274-6276)GGA>AGA	p.G2092R	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2092	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57604269	57604269	+	Intron	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57604269C>T	uc001snd.2	+							NM_002332	NP_002323			low density lipoprotein-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
FGD6	55785	broad.mit.edu	37	12	95602789	95602789	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95602789T>C	uc001tdp.3	-	2	2495	c.2271A>G	c.(2269-2271)ATA>ATG	p.I757M	FGD6_uc009zsx.2_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	757					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3																		---	---	---	---
BRAP	8315	broad.mit.edu	37	12	112119630	112119630	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112119630T>A	uc001tsn.3	-	3	448	c.254A>T	c.(253-255)AAA>ATA	p.K85I	BRAP_uc010syh.1_5'UTR|BRAP_uc009zvv.2_Missense_Mutation_p.K55I	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	85					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1																		---	---	---	---
SRRM4	84530	broad.mit.edu	37	12	119592119	119592119	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:119592119G>A	uc001txa.1	+	12	1755	c.1463G>A	c.(1462-1464)CGG>CAG	p.R488Q		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	488	Ser-rich.|Arg-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2																		---	---	---	---
KNTC1	9735	broad.mit.edu	37	12	123087726	123087726	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123087726C>T	uc001ucv.2	+	48	5200	c.5037C>T	c.(5035-5037)CTC>CTT	p.L1679L	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1679					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)														---	---	---	---
FZD10	11211	broad.mit.edu	37	12	130647946	130647946	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130647946C>T	uc001uii.2	+	1	915	c.459C>T	c.(457-459)AAC>AAT	p.N153N	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	153	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)														---	---	---	---
KBTBD7	84078	broad.mit.edu	37	13	41768160	41768160	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41768160C>T	uc001uxw.1	-	1	543	c.234G>A	c.(232-234)ACG>ACA	p.T78T	uc001uxv.1_Intron	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	78	BTB.						protein binding			ovary(1)	1		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)														---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58207716	58207716	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:58207716G>A	uc001vhq.1	+	1	1928	c.1036G>A	c.(1036-1038)GAC>AAC	p.D346N	PCDH17_uc010aec.1_Missense_Mutation_p.D346N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	346	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)														---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77785411	77785411	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77785411G>A	uc001vkf.2	-	24	3284	c.3193C>T	c.(3193-3195)CTT>TTT	p.L1065F	MYCBP2_uc010aev.2_Missense_Mutation_p.L469F	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1065					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)														---	---	---	---
GPC6	10082	broad.mit.edu	37	13	95050742	95050742	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:95050742G>A	uc001vlt.2	+	8	1944	c.1312G>A	c.(1312-1314)GAT>AAT	p.D438N		NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	glypican 6 precursor	438						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)																---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109475609	109475609	+	Silent	SNP	C	T	T	rs141132835	byFrequency	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109475609C>T	uc001vqt.1	+	9	1140	c.1014C>T	c.(1012-1014)CCC>CCT	p.P338P	MYO16_uc010agk.1_Silent_p.P360P|MYO16_uc001vqu.1_Silent_p.P138P	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	338					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.P338T(1)		ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)															---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20876371	20876371	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20876371G>A	uc001vxe.2	-	2	268	c.228C>T	c.(226-228)TCC>TCT	p.S76S	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.S76S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	76	TEP1 N-terminal 3.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22935186	22935186	+	Intron	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22935186G>T	uc001wbw.2	+						uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc001wdj.2_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron|uc001wds.1_Intron|uc001wdv.3_Intron					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
FAM179B	23116	broad.mit.edu	37	14	45431744	45431744	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45431744C>T	uc001wvv.2	+	1	329	c.120C>T	c.(118-120)GGC>GGT	p.G40G	FAM179B_uc001wvw.2_Silent_p.G40G|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.G40G|FAM179B_uc001wvu.2_Silent_p.G40G	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	40							binding			skin(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
TRIM9	114088	broad.mit.edu	37	14	51561331	51561331	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51561331C>T	uc001wyx.3	-	1	1092	c.327G>A	c.(325-327)CCG>CCA	p.P109P	TRIM9_uc001wyy.2_Silent_p.P109P|TRIM9_uc001wyz.3_Silent_p.P109P	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	109					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)																	---	---	---	---
ADAM20	8748	broad.mit.edu	37	14	70991149	70991149	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70991149C>T	uc001xme.2	-	2	721	c.476G>A	c.(475-477)TGC>TAC	p.C159Y		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	109				C -> W (in Ref. 1; AAC52041).	proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)														---	---	---	---
MIR382	494331	broad.mit.edu	37	14	101520685	101520685	+	RNA	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101520685G>T	hsa-mir-382|MI0000790	+			c.43G>T			uc010awe.2_RNA|uc010txo.1_5'Flank|MIR134_hsa-mir-134|MI0000474_5'Flank|MIR668_hsa-mir-668|MI0003761_5'Flank|MIR485_hsa-mir-485|MI0002469_5'Flank|hsa-mir-323b|MI0014206_5'Flank																	0																		---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25605639	25605639	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25605639C>T	uc001zaq.2	-	5	1653	c.1653G>A	c.(1651-1653)TTG>TTA	p.L551L	uc001zae.2_Intron|UBE3A_uc001zar.2_Silent_p.L528L|UBE3A_uc001zas.2_Silent_p.L548L|UBE3A_uc001zat.2_Silent_p.L528L	NM_000462	NP_000453	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A isoform 2	551					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)														---	---	---	---
MYEF2	50804	broad.mit.edu	37	15	48451038	48451038	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48451038C>T	uc001zwi.3	-	7	923	c.799G>A	c.(799-801)GAC>AAC	p.D267N	MYEF2_uc001zwj.3_Missense_Mutation_p.D267N|MYEF2_uc001zwl.2_Missense_Mutation_p.D107N	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	267	RRM 2.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)														---	---	---	---
HERC1	8925	broad.mit.edu	37	15	64005542	64005542	+	Intron	SNP	T	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64005542T>C	uc002amp.2	-						HERC1_uc010uil.1_Intron	NM_003922	NP_003913			hect domain and RCC1-like domain 1						protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19																		---	---	---	---
TRAF7	84231	broad.mit.edu	37	16	2226124	2226124	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2226124C>T	uc002cow.2	+	19	1920	c.1821C>T	c.(1819-1821)GTC>GTT	p.V607V		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	607	WD 6.				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3																		---	---	---	---
NAGPA	51172	broad.mit.edu	37	16	5077160	5077160	+	Missense_Mutation	SNP	G	A	A	rs145106222		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:5077160G>A	uc002cyg.2	-	9	1337	c.1316C>T	c.(1315-1317)GCG>GTG	p.A439V	NAGPA_uc010buc.2_Missense_Mutation_p.A136V|NAGPA_uc002cyf.2_Intron|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Missense_Mutation_p.A214V	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	439	Lumenal (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)													---	---	---	---
MAZ	4150	broad.mit.edu	37	16	29818144	29818144	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29818144C>G	uc002dty.2	+	1	290	c.122C>G	c.(121-123)CCC>CGC	p.P41R	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Missense_Mutation_p.P18R|MAZ_uc010vdx.1_Missense_Mutation_p.P18R|MAZ_uc002dtw.2_Missense_Mutation_p.P41R|MAZ_uc002dtx.2_Missense_Mutation_p.P41R|MAZ_uc010bzg.2_Missense_Mutation_p.P41R|MAZ_uc002dtz.1_5'Flank|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	41					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
SLC5A2	6524	broad.mit.edu	37	16	31497481	31497481	+	Intron	SNP	C	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31497481C>A	uc002ecf.3	+						SLC5A2_uc010car.2_Intron	NM_003041	NP_003032			solute carrier family 5 (sodium/glucose						carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1																		---	---	---	---
MVD	4597	broad.mit.edu	37	16	88722698	88722698	+	Missense_Mutation	SNP	G	A	A	rs143689631		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88722698G>A	uc002flg.1	-	5	425	c.418C>T	c.(418-420)CGT>TGT	p.R140C	MVD_uc002flf.1_Missense_Mutation_p.R9C	NM_002461	NP_002452	P53602	MVD1_HUMAN	diphosphomevalonate decarboxylase	140					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity				0				BRCA - Breast invasive adenocarcinoma(80;0.0478)														---	---	---	---
POLR2A	5430	broad.mit.edu	37	17	7416391	7416391	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7416391G>A	uc002ghf.3	+	29	5042	c.4808G>A	c.(4807-4809)CGC>CAC	p.R1603H		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1603	2; approximate.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)																---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	C	C	rs121912666		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578190T>C	uc002gim.2	-	6	853	c.659A>G	c.(658-660)TAT>TGT	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	220	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---
SLFN12	55106	broad.mit.edu	37	17	33749495	33749495	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33749495A>T	uc002hji.3	-	2	930	c.553T>A	c.(553-555)TTT>ATT	p.F185I	SLFN12_uc002hjj.3_Missense_Mutation_p.F185I|SLFN12_uc010cts.2_Missense_Mutation_p.F185I	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	185							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34073428	34073428	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34073428C>T	uc002hjv.1	-	6	1116	c.1088G>A	c.(1087-1089)TGC>TAC	p.C363Y		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	363					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
MMP28	79148	broad.mit.edu	37	17	34100224	34100224	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34100224C>T	uc002hjy.1	-	6	824	c.565G>A	c.(565-567)GAC>AAC	p.D189N	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	189					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)														---	---	---	---
TAF15	8148	broad.mit.edu	37	17	34171858	34171858	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34171858C>T	uc002hkd.2	+	15	1641	c.1555C>T	c.(1555-1557)CGA>TGA	p.R519*	TAF15_uc002hkc.2_Nonsense_Mutation_p.R516*	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	519	Arg/Gly-rich.|15.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)				T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL								---	---	---	---
STARD3	10948	broad.mit.edu	37	17	37815008	37815008	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37815008G>T	uc002hsd.2	+	7	705	c.581G>T	c.(580-582)GGA>GTA	p.G194V	STARD3_uc010weg.1_3'UTR|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.G176V|STARD3_uc010wei.1_Missense_Mutation_p.G194V|STARD3_uc002hsf.2_Missense_Mutation_p.G60V|STARD3_uc002hsg.2_Intron	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	194	MENTAL.|Cytoplasmic (Potential).				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)															---	---	---	---
IKZF3	22806	broad.mit.edu	37	17	37949170	37949170	+	Silent	SNP	C	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37949170C>A	uc002hsu.2	-	4	242	c.180G>T	c.(178-180)GTG>GTT	p.V60V	IKZF3_uc002htd.2_Silent_p.V26V|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Silent_p.V26V|IKZF3_uc010cwe.2_Silent_p.V60V|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Silent_p.V60V|IKZF3_uc002hsx.2_Silent_p.V60V|IKZF3_uc002hsy.2_Silent_p.V60V|IKZF3_uc002hsz.2_Silent_p.V60V|IKZF3_uc002hta.2_Silent_p.V60V|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	60					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)															---	---	---	---
HDAC5	10014	broad.mit.edu	37	17	42171083	42171083	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42171083G>A	uc002ifd.1	-	4	425	c.214C>T	c.(214-216)CGG>TGG	p.R72W	HDAC5_uc002ife.1_Missense_Mutation_p.R72W|HDAC5_uc002iff.1_Missense_Mutation_p.R73W|HDAC5_uc010czp.1_Missense_Mutation_p.R72W|HDAC5_uc002ifh.2_Missense_Mutation_p.R72W	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	72					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)														---	---	---	---
TBKBP1	9755	broad.mit.edu	37	17	45776813	45776813	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45776813C>T	uc002ilu.2	+	5	1611	c.762C>T	c.(760-762)TGC>TGT	p.C254C		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	254	Potential.				innate immune response						0																OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67280173	67280173	+	Silent	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67280173G>T	uc002jif.2	-	17	3531	c.2313C>A	c.(2311-2313)GTC>GTA	p.V771V	ABCA5_uc002jic.2_5'UTR|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.V771V|ABCA5_uc002jih.2_Silent_p.V771V|ABCA5_uc010dfe.2_Silent_p.V771V	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	771					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)																	---	---	---	---
GGA3	23163	broad.mit.edu	37	17	73235959	73235959	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73235959G>A	uc002jni.1	-	13	1503	c.1494C>T	c.(1492-1494)CCC>CCT	p.P498P	GGA3_uc002jnj.1_Silent_p.P465P|GGA3_uc010wrw.1_Silent_p.P376P|GGA3_uc002jnk.1_Silent_p.P426P|GGA3_uc010wrx.1_Silent_p.P376P|GGA3_uc010wry.1_Silent_p.P426P	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	498	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)															---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74003189	74003189	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74003189G>A	uc002jqi.2	-	22	6325	c.6097C>T	c.(6097-6099)CGC>TGC	p.R2033C	EVPL_uc010wss.1_Missense_Mutation_p.R2055C|EVPL_uc010wst.1_Missense_Mutation_p.R1503C	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	2033	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
THOC1	9984	broad.mit.edu	37	18	265478	265478	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:265478G>A	uc002kkj.3	-	2	147	c.107C>T	c.(106-108)ACC>ATC	p.T36I	THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_Missense_Mutation_p.T36I	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	THO complex 1	36					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)																---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31324706	31324706	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31324706G>A	uc010dmg.1	+	12	4949	c.4894G>A	c.(4894-4896)GAA>AAA	p.E1632K	ASXL3_uc002kxq.2_Missense_Mutation_p.E1339K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PIK3C3	5289	broad.mit.edu	37	18	39575919	39575919	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:39575919C>T	uc002lap.2	+	8	910	c.852C>T	c.(850-852)CAC>CAT	p.H284H	PIK3C3_uc010xcl.1_Silent_p.H221H	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	284					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10															TSP Lung(28;0.18)			---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43221171	43221171	+	Intron	SNP	T	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43221171T>C	uc010dnj.2	+						SLC14A2_uc002lbb.2_Intron|SLC14A2_uc002lbe.2_Intron	NM_007163	NP_009094			solute carrier family 14 (urea transporter),							apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
NETO1	81832	broad.mit.edu	37	18	70532420	70532420	+	Intron	SNP	C	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:70532420C>A	uc002lkw.2	-						NETO1_uc002lkx.1_Intron|NETO1_uc002lky.1_Intron|NETO1_uc002lkz.2_Intron	NM_138966	NP_620416			neuropilin- and tolloid-like protein 1 isoform 3						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)														---	---	---	---
CASP14	23581	broad.mit.edu	37	19	15166303	15166303	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15166303T>A	uc010dzv.1	+	6	891	c.583T>A	c.(583-585)TTC>ATC	p.F195I	CASP14_uc002naf.2_Missense_Mutation_p.F195I	NM_012114	NP_036246	P31944	CASPE_HUMAN	caspase 14 precursor	195					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.F195Y(1)		skin(2)|ovary(1)|lung(1)	4																		---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940729	22940729	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22940729G>T	uc010xrh.1	-	5	1709	c.1709C>A	c.(1708-1710)TCC>TAC	p.S570Y		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)																---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38998476	38998476	+	Intron	SNP	A	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38998476A>T	uc002oit.2	+						RYR1_uc002oiu.2_Intron|RYR1_uc002oiv.1_Intron	NM_000540	NP_000531			skeletal muscle ryanodine receptor isoform 1						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---
PSG5	5673	broad.mit.edu	37	19	43680066	43680066	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43680066C>T	uc002ovu.2	-	3	796	c.665G>A	c.(664-666)CGA>CAA	p.R222Q	PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Missense_Mutation_p.R222Q|PSG5_uc002ovv.2_Missense_Mutation_p.R315Q|PSG5_uc002ovw.2_Intron	NM_002781	NP_002772	Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	222	Ig-like C2-type 1.				female pregnancy	extracellular region				skin(3)	3		Prostate(69;0.00899)																---	---	---	---
GEMIN7	79760	broad.mit.edu	37	19	45593700	45593700	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45593700C>T	uc002pap.1	+	3	479	c.328C>T	c.(328-330)CCC>TCC	p.P110S	uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Missense_Mutation_p.P110S|GEMIN7_uc002par.1_Missense_Mutation_p.P110S	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN	gemin 7	110					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)														---	---	---	---
RTN2	6253	broad.mit.edu	37	19	45997638	45997638	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45997638G>A	uc002pcb.2	-	4	828	c.600C>T	c.(598-600)CCC>CCT	p.P200P	RTN2_uc002pcc.2_Silent_p.P200P|RTN2_uc002pcd.2_RNA	NM_005619	NP_005610	O75298	RTN2_HUMAN	reticulon 2 isoform A	200						integral to endoplasmic reticulum membrane	signal transducer activity			ovary(3)	3		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)														---	---	---	---
CABP5	56344	broad.mit.edu	37	19	48543884	48543884	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48543884G>A	uc002phu.1	-	3	341	c.216C>T	c.(214-216)CTC>CTT	p.L72L		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	calcium binding protein 5	72	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			skin(1)	1		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)														---	---	---	---
DKKL1	27120	broad.mit.edu	37	19	49867939	49867939	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49867939C>T	uc002pnk.2	+	2	325	c.111C>T	c.(109-111)GAC>GAT	p.D37D	TEAD2_uc002pni.2_5'Flank|TEAD2_uc002pnj.2_5'Flank|TEAD2_uc010yao.1_5'Flank|TEAD2_uc010emw.2_5'Flank	NM_014419	NP_055234	Q9UK85	DKKL1_HUMAN	dickkopf-like 1 precursor	37					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity				0		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)														---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50103130	50103130	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50103130C>T	uc002poo.3	+	5	4280	c.4280C>T	c.(4279-4281)GCG>GTG	p.A1427V		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	606	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)														---	---	---	---
ZNF578	147660	broad.mit.edu	37	19	53015310	53015310	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53015310G>A	uc002pzp.3	+	6	1920	c.1676G>A	c.(1675-1677)AGA>AAA	p.R559K		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	zinc finger protein 578	334	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)														---	---	---	---
ZNF583	147949	broad.mit.edu	37	19	56925784	56925784	+	Silent	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56925784G>A	uc010ygl.1	+	4	372	c.207G>A	c.(205-207)AAG>AAA	p.K69K	ZNF583_uc002qnc.2_Silent_p.K69K|ZNF583_uc010ygm.1_Silent_p.K69K	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN	zinc finger protein 583	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)														---	---	---	---
ZNF211	10520	broad.mit.edu	37	19	58152366	58152366	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58152366C>T	uc002qpq.2	+	3	692	c.512C>T	c.(511-513)TCG>TTG	p.S171L	ZNF211_uc010yhb.1_Missense_Mutation_p.S175L|ZNF211_uc002qpp.2_Missense_Mutation_p.S184L|ZNF211_uc002qpr.2_Missense_Mutation_p.S235L|ZNF211_uc002qps.2_Missense_Mutation_p.S236L|ZNF211_uc002qpt.2_Missense_Mutation_p.S183L|ZNF211_uc010yhc.1_Missense_Mutation_p.S183L|ZNF211_uc010yhd.1_Missense_Mutation_p.S110L|ZNF211_uc010yhe.1_Missense_Mutation_p.S162L	NM_198855	NP_942152	Q13398	ZN211_HUMAN	zinc finger protein 211 isoform 2	171						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---
FAM110A	83541	broad.mit.edu	37	20	826057	826057	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:826057C>T	uc002wef.1	+	2	946	c.610C>T	c.(610-612)CGC>TGC	p.R204C	FAM110A_uc002weg.1_Missense_Mutation_p.R204C|FAM110A_uc002weh.1_Missense_Mutation_p.R204C|FAM110A_uc010fzz.2_RNA	NM_001042353	NP_001035812	Q9BQ89	F110A_HUMAN	hypothetical protein LOC83541	204						microtubule organizing center|spindle pole	protein binding				0																		---	---	---	---
AVP	551	broad.mit.edu	37	20	3065299	3065299	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3065299C>T	uc002whu.2	-	1	72	c.22G>A	c.(22-24)GCC>ACC	p.A8T		NM_000490	NP_000481	P01185	NEU2_HUMAN	arginine vasopressin-neurophysin II	8					cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding				0				COAD - Colon adenocarcinoma(99;0.00643)														---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5905665	5905665	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5905665G>T	uc002wmg.2	+	5	2310	c.2004G>T	c.(2002-2004)AAG>AAT	p.K668N	CHGB_uc010zqz.1_Missense_Mutation_p.K351N	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	668						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6																		---	---	---	---
C20orf12	55184	broad.mit.edu	37	20	18395078	18395078	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18395078A>G	uc010zsa.1	-	12	1422	c.1213T>C	c.(1213-1215)TGT>CGT	p.C405R	C20orf12_uc010zrz.1_5'Flank|C20orf12_uc002wqp.3_Missense_Mutation_p.C96R|C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.C272R|C20orf12_uc002wqq.3_Missense_Mutation_p.C386R|C20orf12_uc002wqu.1_RNA|C20orf12_uc010gct.1_RNA	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	213						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)																---	---	---	---
TMEM90B	79953	broad.mit.edu	37	20	24524024	24524024	+	Silent	SNP	C	T	T	rs146291718	byFrequency	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:24524024C>T	uc002wtw.1	+	2	924	c.291C>T	c.(289-291)GGC>GGT	p.G97G		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	97	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0																		---	---	---	---
EMILIN3	90187	broad.mit.edu	37	20	39992409	39992409	+	Missense_Mutation	SNP	C	T	T	rs143410015		TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39992409C>T	uc002xjy.1	-	3	607	c.383G>A	c.(382-384)CGC>CAC	p.R128H		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	128	EMI.					proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)																---	---	---	---
PI3	5266	broad.mit.edu	37	20	43804672	43804672	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43804672G>A	uc002xng.2	+	2	274	c.250G>A	c.(250-252)GCC>ACC	p.A84T		NM_002638	NP_002629	P19957	ELAF_HUMAN	elafin preproprotein	84	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity				0		Myeloproliferative disorder(115;0.0122)																---	---	---	---
Unknown	0	broad.mit.edu	37	20	58425487	58425487	+	IGR	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58425487C>T								PHACTR3 (2723 upstream) : SYCP2 (13132 downstream)																																			---	---	---	---
GATA5	140628	broad.mit.edu	37	20	61040939	61040939	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61040939C>T	uc002ycx.1	-	5	926	c.864G>A	c.(862-864)CAG>CAA	p.Q288Q		NM_080473	NP_536721	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	288					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding				0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)															---	---	---	---
RSPH1	89765	broad.mit.edu	37	21	43912907	43912907	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43912907G>C	uc002zbg.2	-	3	340	c.235C>G	c.(235-237)CAA>GAA	p.Q79E		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	79	MORN 3.				meiosis	cytosol|nucleus				ovary(1)	1																		---	---	---	---
KRTAP10-9	386676	broad.mit.edu	37	21	46047148	46047148	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46047148C>G	uc002zfp.3	+	1	109	c.60C>G	c.(58-60)GAC>GAG	p.D20E	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	20						keratin filament					0																		---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18363991	18363991	+	Intron	SNP	G	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18363991G>C	uc002zng.3	-						MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Missense_Mutation_p.R774G	NM_015241	NP_056056			microtubule associated monoxygenase, calponin							cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)														---	---	---	---
FBLN1	2192	broad.mit.edu	37	22	45914594	45914594	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45914594G>A	uc003bgj.1	+	2	259	c.112G>A	c.(112-114)GCG>ACG	p.A38T	FBLN1_uc003bgg.1_Missense_Mutation_p.A38T|FBLN1_uc003bgh.2_Missense_Mutation_p.A38T|FBLN1_uc010gzz.2_Missense_Mutation_p.A38T|FBLN1_uc003bgi.1_Missense_Mutation_p.A38T	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	38	Anaphylatoxin-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)														---	---	---	---
HCCS	3052	broad.mit.edu	37	X	11136637	11136637	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:11136637G>A	uc004cuk.2	+	5	684	c.418G>A	c.(418-420)GAG>AAG	p.E140K	HCCS_uc004cuj.2_Missense_Mutation_p.E140K|HCCS_uc004cul.1_Missense_Mutation_p.E140K	NM_005333	NP_005324	P53701	CCHL_HUMAN	holocytochrome c synthase	140					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	26179809	26179809	+	IGR	SNP	T	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26179809T>C								MAGEB18 (20957 upstream) : MAGEB6 (30748 downstream)																																			---	---	---	---
MAGEB6	158809	broad.mit.edu	37	X	26212461	26212461	+	Silent	SNP	T	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26212461T>C	uc004dbr.2	+	2	647	c.498T>C	c.(496-498)TAT>TAC	p.Y166Y	MAGEB6_uc010ngc.1_5'UTR	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	166										ovary(3)	3																		---	---	---	---
PORCN	64840	broad.mit.edu	37	X	48372643	48372643	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48372643C>T	uc010nie.1	+	9	893	c.735C>T	c.(733-735)TAC>TAT	p.Y245Y	PORCN_uc004djr.1_Silent_p.Y240Y|PORCN_uc004djs.1_Silent_p.Y234Y|PORCN_uc004djt.1_Silent_p.Y163Y|PORCN_uc011mlx.1_Silent_p.Y163Y|PORCN_uc004dju.1_Silent_p.Y103Y|PORCN_uc004djv.1_Silent_p.Y245Y|PORCN_uc004djw.1_Silent_p.Y239Y	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	245	Extracellular (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
GATA1	2623	broad.mit.edu	37	X	48652490	48652490	+	Silent	SNP	G	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48652490G>T	uc004dkq.3	+	6	1252	c.1161G>T	c.(1159-1161)CTG>CTT	p.L387L		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	387					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(246)|lung(2)	248								Mis|F		megakaryoblastic leukemia of Downs Syndrome								---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54043133	54043133	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54043133C>T	uc004dsu.2	-	6	672	c.599G>A	c.(598-600)CGC>CAC	p.R200H	PHF8_uc004dst.2_Missense_Mutation_p.R164H|PHF8_uc004dsv.2_Missense_Mutation_p.R30H|PHF8_uc004dsw.2_Missense_Mutation_p.R164H|PHF8_uc004dsx.2_5'Flank|PHF8_uc004dsy.2_Missense_Mutation_p.R164H	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	200					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3																		---	---	---	---
MIR545	664614	broad.mit.edu	37	X	73507007	73507007	+	RNA	SNP	T	G	G			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73507007T>G	hsa-mir-545|MI0003516	-			c.38T>G			NCRNA00182_uc010nlq.1_Intron|NCRNA00182_uc004ebr.1_Intron																	0																		---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939715	76939715	+	Missense_Mutation	SNP	C	T	T	rs149249195	byFrequency	TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:76939715C>T	uc004ecp.3	-	9	1265	c.1033G>A	c.(1033-1035)GCA>ACA	p.A345T	ATRX_uc004ecq.3_Missense_Mutation_p.A307T|ATRX_uc004eco.3_Missense_Mutation_p.A130T|ATRX_uc004ecr.2_Missense_Mutation_p.A306T|ATRX_uc010nlx.1_Missense_Mutation_p.A345T|ATRX_uc010nly.1_Missense_Mutation_p.A290T	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	345					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111078194	111078194	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111078194C>T	uc004epl.1	-	7	2770	c.1851G>A	c.(1849-1851)CTG>CTA	p.L617L	TRPC5_uc004epm.1_Silent_p.L617L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	617	Helical; (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1																		---	---	---	---
LRCH2	57631	broad.mit.edu	37	X	114418969	114418969	+	Intron	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:114418969C>T	uc010nqe.2	-						LRCH2_uc004epz.2_Intron	NM_020871	NP_065922			leucine-rich repeats and calponin homology (CH)											ovary(1)	1																		---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995050	140995050	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140995050A>T	uc004fbt.2	+	4	2146	c.1860A>T	c.(1858-1860)GAA>GAT	p.E620D	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	620							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(15;0.026)			---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142718454	142718454	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:142718454C>T	uc004fbx.2	-	2	847	c.471G>A	c.(469-471)CTG>CTA	p.L157L	SLITRK4_uc004fby.2_Silent_p.L157L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	157	Extracellular (Potential).|LRR 5.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148037715	148037715	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148037715G>C	uc004fcp.2	+	11	2619	c.2140G>C	c.(2140-2142)GAT>CAT	p.D714H	AFF2_uc004fcq.2_Missense_Mutation_p.D704H|AFF2_uc004fcr.2_Missense_Mutation_p.D675H|AFF2_uc011mxb.1_Missense_Mutation_p.D679H|AFF2_uc004fcs.2_Missense_Mutation_p.D681H|AFF2_uc011mxc.1_Missense_Mutation_p.D355H	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	714					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149641985	149641985	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:149641985G>A	uc004fee.1	+	4	2027	c.1951G>A	c.(1951-1953)GCT>ACT	p.A651T	MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Missense_Mutation_p.A626T|MAMLD1_uc011mxw.1_Intron	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	651					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
GABRA3	2556	broad.mit.edu	37	X	151453212	151453212	+	Intron	SNP	G	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151453212G>A	uc010ntk.1	-							NM_000808	NP_000799			gamma-aminobutyric acid A receptor, alpha 3						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
MAGEA1	4100	broad.mit.edu	37	X	152482314	152482314	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152482314C>A	uc004fhf.2	-	3	917	c.697G>T	c.(697-699)GGG>TGG	p.G233W		NM_004988	NP_004979	P43355	MAGA1_HUMAN	melanoma antigen family A, 1	233	MAGE.					cytoplasm|plasma membrane				central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
TMLHE	55217	broad.mit.edu	37	X	154743754	154743754	+	Silent	SNP	C	T	T			TCGA-CG-5730-01A-11D-1600-08	TCGA-CG-5730-11A-01D-1600-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154743754C>T	uc004fnn.2	-	4	697	c.531G>A	c.(529-531)CTG>CTA	p.L177L	TMLHE_uc004fno.2_Silent_p.L177L|TMLHE_uc004fnp.3_Silent_p.L177L	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	177					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			ovary(1)	1	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
