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
PRPF38A	84950	broad.mit.edu	37	1	52871666	52871667	+	Intron	INS	-	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52871666_52871667insT	uc001ctv.3	+						ORC1L_uc001ctt.2_5'Flank|ORC1L_uc010oni.1_5'Flank|ORC1L_uc001ctu.2_5'Flank|ORC1L_uc009vzd.2_5'Flank|PRPF38A_uc001ctw.3_Intron	NM_032864	NP_116253			PRP38 pre-mRNA processing factor 38 (yeast)						mRNA processing|RNA splicing	spliceosomal complex					0																		---	---	---	---
PDE4B	5142	broad.mit.edu	37	1	66307064	66307065	+	Intron	INS	-	AAGGAAGG	AAGGAAGG	rs143829481	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66307064_66307065insAAGGAAGG	uc001dcn.2	+						PDE4B_uc009war.2_Intron|PDE4B_uc001dco.2_Intron	NM_001037341	NP_001032418			phosphodiesterase 4B isoform 1						signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)													---	---	---	---
NBPF7	343505	broad.mit.edu	37	1	120381686	120381687	+	Intron	INS	-	TGTGAGTCA	TGTGAGTCA	rs144031576	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120381686_120381687insTGTGAGTCA	uc010oxk.1	-							NM_001047980	NP_001041445			hypothetical protein LOC343505							cytoplasm				ovary(1)|skin(1)	2	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)														---	---	---	---
LGTN	1939	broad.mit.edu	37	1	206766826	206766827	+	Intron	DEL	GA	-	-	rs113332386		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206766826_206766827delGA	uc001heh.2	-						LGTN_uc009xbw.2_Intron	NM_006893	NP_008824			ligatin						intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---
Unknown	0	broad.mit.edu	37	1	237111452	237111452	+	IGR	DEL	A	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237111452delA								MTR (44172 upstream) : RYR2 (94250 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	2	20320001	20320004	+	IGR	DEL	GGAA	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20320001_20320004delGGAA								LAPTM4A (68212 upstream) : SDC1 (80554 downstream)																																			---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33488080	33488080	+	Intron	DEL	T	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33488080delT	uc002ros.2	+						LTBP1_uc002rot.2_Intron|LTBP1_uc002rou.2_Intron|LTBP1_uc002rov.2_Intron|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron	NM_206943	NP_996826			latent transforming growth factor beta binding						negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)																---	---	---	---
Unknown	0	broad.mit.edu	37	2	106984902	106984907	+	IGR	DEL	AATTTC	-	-	rs7570576		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106984902_106984907delAATTTC								UXS1 (174107 upstream) : PLGLA (17862 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	2	133118776	133118777	+	IGR	INS	-	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133118776_133118777insG								NCRNA00164 (103234 upstream) : GPR39 (55370 downstream)																																			---	---	---	---
LCT	3938	broad.mit.edu	37	2	136587400	136587401	+	Intron	INS	-	GTGT	GTGT	rs137885947	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136587400_136587401insGTGT	uc002tuu.1	-							NM_002299	NP_002290			lactase-phlorizin hydrolase preproprotein						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)														---	---	---	---
DNAJC10	54431	broad.mit.edu	37	2	183597051	183597052	+	Intron	INS	-	TG	TG	rs143941720	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183597051_183597052insTG	uc002uow.1	+						DNAJC10_uc002uox.1_Intron|DNAJC10_uc002uoy.1_Intron|DNAJC10_uc002uoz.1_Intron|DNAJC10_uc010fro.1_Intron	NM_018981	NP_061854			DnaJ (Hsp40) homolog, subfamily C, member 10						apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)															---	---	---	---
PECR	55825	broad.mit.edu	37	2	216939217	216939220	+	Intron	DEL	AAGG	-	-	rs72274918		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216939217_216939220delAAGG	uc002vft.2	-						PECR_uc010zjq.1_Intron|PECR_uc002vfu.1_Intron	NM_018441	NP_060911			peroxisomal trans-2-enoyl-CoA reductase						fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity				0		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)													---	---	---	---
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	RNA	INS	-	CC	CC	rs143568999	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:21447901_21447902insCC	uc003ccd.2	+	1		c.684_685insCC				NR_002311				Homo sapiens VENT homeobox (Xenopus laevis) pseudogene 7 (VENTXP7), non-coding RNA.												0																		---	---	---	---
TRA2B	6434	broad.mit.edu	37	3	185636982	185636983	+	Intron	INS	-	TAACTT	TAACTT	rs144653966	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185636982_185636983insTAACTT	uc003fpv.2	-						TRA2B_uc003fpt.2_Intron|TRA2B_uc003fpu.2_Intron|TRA2B_uc010hym.2_Intron|TRA2B_uc003fpw.2_Intron	NM_004593	NP_004584			splicing factor, arginine/serine-rich 10						nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2																		---	---	---	---
ADIPOQ	9370	broad.mit.edu	37	3	186566180	186566181	+	Intron	INS	-	TA	TA			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186566180_186566181insTA	uc003fra.2	+						ADIPOQ_uc010hyy.2_Intron	NM_004797	NP_004788			adiponectin precursor						brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			ovary(1)	1	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)														---	---	---	---
ST6GAL1	6480	broad.mit.edu	37	3	186704984	186704985	+	Intron	INS	-	A	A	rs59834484		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186704984_186704985insA	uc003frb.2	+						ST6GAL1_uc003frc.2_Intron	NM_173216	NP_775323			ST6 beta-galactosamide						humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)	1	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)														---	---	---	---
CHIC2	26511	broad.mit.edu	37	4	54876132	54876132	+	3'UTR	DEL	C	-	-	rs68107873		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:54876132delC	uc003haj.1	-	6					PDGFRA_uc003haa.2_Intron	NM_012110	NP_036242			cysteine-rich hydrophobic domain 2							plasma membrane	protein binding			central_nervous_system(1)	1	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)					T	ETV6	AML								---	---	---	---
Unknown	0	broad.mit.edu	37	4	131456178	131456180	+	IGR	DEL	GAA	-	-	rs58744041		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:131456178_131456180delGAA								None (None upstream) : None (None downstream)																																			---	---	---	---
CCRN4L	25819	broad.mit.edu	37	4	139964674	139964675	+	Intron	INS	-	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:139964674_139964675insT	uc003ihl.2	+						CCRN4L_uc003ihk.1_3'UTR	NM_012118	NP_036250			CCR4 carbon catabolite repression 4-like						rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---
SLC12A7	10723	broad.mit.edu	37	5	1052736	1052740	+	Intron	DEL	GAGCA	-	-	rs142533833		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1052736_1052740delGAGCA	uc003jbu.2	-							NM_006598	NP_006589			solute carrier family 12 (potassium/chloride						potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)													---	---	---	---
GUSBP1	728411	broad.mit.edu	37	5	21459400	21459401	+	5'Flank	INS	-	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21459400_21459401insA	uc010iub.2	+						GUSBP1_uc011cnn.1_Intron|GUSBP1_uc003jgh.3_5'Flank|GUSBP1_uc003jgf.3_5'Flank|GUSBP1_uc003jgg.3_5'Flank	NR_027028				SubName: Full=Putative uncharacterized protein GUSBL2;												0																		---	---	---	---
LOC644936	644936	broad.mit.edu	37	5	79596393	79596397	+	5'Flank	DEL	CACGG	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79596393_79596397delCACGG	uc010jai.2	-							NR_004845				Homo sapiens cytoplasmic beta-actin pseudogene, mRNA (cDNA clone IMAGE:30378151).												0																		---	---	---	---
REEP5	7905	broad.mit.edu	37	5	112237915	112237915	+	Intron	DEL	G	-	-	rs141436136		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112237915delG	uc003kqe.1	-						REEP5_uc011cvw.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron	NM_005669	NP_005660			receptor accessory protein 5							integral to membrane	protein binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)														---	---	---	---
ABCF1	23	broad.mit.edu	37	6	30548123	30548124	+	Intron	INS	-	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30548123_30548124insA	uc003nql.2	+						ABCF1_uc003nqk.2_Intron|ABCF1_uc003nqm.2_Intron|ABCF1_uc010jsb.2_Intron	NM_001025091	NP_001020262			ATP-binding cassette, sub-family F, member 1						inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2																		---	---	---	---
CAPN11	11131	broad.mit.edu	37	6	44149186	44149187	+	Intron	INS	-	CA	CA	rs150427721	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44149186_44149187insCA	uc003owt.1	+						CAPN11_uc011dvn.1_Intron	NM_007058	NP_008989			calpain 11						proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			ovary(1)|breast(1)	2	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)															---	---	---	---
SNAP91	9892	broad.mit.edu	37	6	84366385	84366386	+	Intron	INS	-	AAG	AAG	rs145969366	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84366385_84366386insAAG	uc011dze.1	-						SNAP91_uc003pkb.2_Intron|SNAP91_uc003pkc.2_Intron|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Intron|SNAP91_uc011dzf.1_Intron	NM_014841	NP_055656			synaptosomal-associated protein, 91kDa homolog						clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)														---	---	---	---
HACE1	57531	broad.mit.edu	37	6	105300070	105300071	+	Intron	INS	-	TG	TG			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105300070_105300071insTG	uc003pqu.1	-						HACE1_uc010kcy.1_Intron|HACE1_uc010kcz.1_Intron	NM_020771	NP_065822			HECT domain and ankyrin repeat containing, E3						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)														---	---	---	---
FABP7	2173	broad.mit.edu	37	6	123101679	123101679	+	Intron	DEL	T	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123101679delT	uc003pzf.2	+						FABP7_uc003pzd.2_Intron|FABP7_uc003pze.1_3'UTR	NM_001446	NP_001437			fatty acid binding protein 7, brain						negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity				0				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)													---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158502667	158502668	+	Intron	DEL	TC	-	-	rs149018292	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158502667_158502668delTC	uc003qqx.1	+						SYNJ2_uc003qqw.1_Intron|SYNJ2_uc003qqy.1_Intron|SYNJ2_uc003qqz.1_Intron|SYNJ2_uc003qra.1_Intron	NM_003898	NP_003889			synaptojanin 2								nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)														---	---	---	---
SYTL3	94120	broad.mit.edu	37	6	159146359	159146360	+	Intron	DEL	GT	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159146359_159146360delGT	uc003qrp.2	+						SYTL3_uc011efp.1_Intron|SYTL3_uc003qro.2_Intron|SYTL3_uc003qrq.2_Intron|SYTL3_uc003qrr.2_Intron|SYTL3_uc003qrs.2_Intron|SYTL3_uc011efq.1_Intron	NM_001009991	NP_001009991			synaptotagmin-like 3						intracellular protein transport	endomembrane system|membrane	Rab GTPase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)														---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4171854	4171854	+	Intron	DEL	T	-	-	rs113599151		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4171854delT	uc003smx.2	+						SDK1_uc010kso.2_Intron|SDK1_uc003smy.2_Intron	NM_152744	NP_689957			sidekick 1 precursor						cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---
Unknown	0	broad.mit.edu	37	7	6714962	6714962	+	IGR	DEL	T	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6714962delT								ZNF853 (51043 upstream) : ZNF12 (13102 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	22813177	22813178	+	IGR	INS	-	C	C	rs145036723	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:22813177_22813178insC								IL6 (41558 upstream) : TOMM7 (39076 downstream)																																			---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24881631	24881631	+	Intron	DEL	A	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:24881631delA	uc003sxf.2	-						OSBPL3_uc003sxd.2_Intron|OSBPL3_uc003sxe.2_Intron|OSBPL3_uc003sxg.2_Intron|OSBPL3_uc003sxh.2_Intron|OSBPL3_uc003sxi.2_Intron|OSBPL3_uc003sxj.1_Intron|OSBPL3_uc003sxk.1_Intron	NM_015550	NP_056365			oxysterol-binding protein-like protein 3 isoform						lipid transport		lipid binding|protein binding			skin(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	74016919	74016919	+	IGR	DEL	A	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:74016919delA								GTF2IRD1 (1 upstream) : GTF2I (55111 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	96377119	96377130	+	IGR	DEL	CTTCCTTCCTTT	-	-	rs71956221		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96377119_96377130delCTTCCTTCCTTT								SHFM1 (37916 upstream) : DLX6AS (220698 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	7	142223659	142223659	+	Intron	DEL	A	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142223659delA	uc011krp.1	+						uc011krr.1_Intron|uc011krx.1_Intron|uc011ksa.1_Intron					Homo sapiens mRNA for T cell receptor beta variable 3, partial cds, clone: un 191.																														---	---	---	---
TPK1	27010	broad.mit.edu	37	7	144228268	144228270	+	Intron	DEL	AAG	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:144228268_144228270delAAG	uc003weq.2	-						TPK1_uc003weo.2_Intron|TPK1_uc003wep.2_Intron|TPK1_uc003wer.2_Intron|TPK1_uc003wes.2_Intron	NM_022445	NP_071890			thiamin pyrophosphokinase 1 isoform a						thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)													---	---	---	---
Unknown	0	broad.mit.edu	37	8	8791772	8791772	+	IGR	DEL	A	-	-	rs34636409		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8791772delA								MFHAS1 (40641 upstream) : ERI1 (68542 downstream)																																			---	---	---	---
LYN	4067	broad.mit.edu	37	8	56864313	56864314	+	Intron	INS	-	T	T	rs148963886	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56864313_56864314insT	uc003xsk.3	+						LYN_uc003xsl.3_Intron	NM_002350	NP_002341			Yamaguchi sarcoma viral (v-yes-1) oncogene						erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)															---	---	---	---
TMEM71	137835	broad.mit.edu	37	8	133771175	133771176	+	Intron	INS	-	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133771175_133771176insA	uc003ytp.2	-						TMEM71_uc003ytn.2_Intron|TMEM71_uc003yto.2_Intron	NM_144649	NP_653250			transmembrane protein 71 isoform 1							integral to membrane				ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	144474193	144474196	+	IGR	DEL	CACT	-	-	rs150406849	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144474193_144474196delCACT								RHPN1 (7804 upstream) : MAFA (37319 downstream)																																			---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14824710	14824711	+	Intron	DEL	TA	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14824710_14824711delTA	uc003zlm.2	-						FREM1_uc010mic.2_Intron	NM_144966	NP_659403			FRAS1 related extracellular matrix 1 precursor						cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)														---	---	---	---
C9orf11	54586	broad.mit.edu	37	9	27285130	27285131	+	Intron	DEL	CC	-	-	rs67807368		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27285130_27285131delCC	uc003zql.2	-						NCRNA00032_uc010mjd.1_5'Flank|C9orf11_uc011lnq.1_Intron	NM_020641	NP_065692			Acr formation associated factor isoform 1							acrosomal membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)														---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114170786	114170786	+	Intron	DEL	A	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114170786delA	uc004bfe.1	-							NM_001080398	NP_001073867			KIAA0368 protein												0																		---	---	---	---
GOLGA1	2800	broad.mit.edu	37	9	127700668	127700669	+	Intron	DEL	AT	-	-	rs112259308		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127700668_127700669delAT	uc004bpc.2	-						GOLGA1_uc010mwt.1_Intron	NM_002077	NP_002068			golgin 97							Golgi cisterna membrane				ovary(1)	1																		---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138718041	138718042	+	Intron	DEL	CA	-	-	rs60377963		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138718041_138718042delCA	uc004cgr.3	-						CAMSAP1_uc004cgq.3_Intron|CAMSAP1_uc010nbg.2_Intron	NM_015447	NP_056262			calmodulin regulated spectrin-associated protein							cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)														---	---	---	---
Unknown	0	broad.mit.edu	37	10	71193238	71193239	+	IGR	INS	-	AC	AC	rs139709581	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71193238_71193239insAC								TACR2 (16564 upstream) : TSPAN15 (17987 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	11	45609387	45609398	+	IGR	DEL	GAAGGAAGGAAG	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45609387_45609398delGAAGGAAGGAAG								SYT13 (301503 upstream) : CHST1 (61029 downstream)																																			---	---	---	---
AMBRA1	55626	broad.mit.edu	37	11	46450139	46450140	+	Intron	INS	-	T	T	rs142253407	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46450139_46450140insT	uc010rgu.1	-						AMBRA1_uc010rgt.1_Intron|AMBRA1_uc009ylc.1_Intron|AMBRA1_uc001ncu.1_Intron|AMBRA1_uc001ncv.2_Intron|AMBRA1_uc001ncw.2_Intron|AMBRA1_uc001ncx.2_Intron	NM_017749	NP_060219			activating molecule in beclin-1-regulated						autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	102985853	102985853	+	Intron	DEL	T	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102985853delT	uc001pho.2	+						DYNC2H1_uc001phn.1_Intron|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932			dynein, cytoplasmic 2, heavy chain 1						cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	127804158	127804159	+	IGR	INS	-	TT	TT	rs10656829		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:127804158_127804159insTT								KIRREL3 (930803 upstream) : ETS1 (524497 downstream)																																			---	---	---	---
CLEC9A	283420	broad.mit.edu	37	12	10193878	10193879	+	Intron	INS	-	A	A	rs11407709		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10193878_10193879insA	uc001qxa.2	+							NM_207345	NP_997228			C-type lectin domain family 9, member A						positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			ovary(1)	1																		---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	Intron	INS	-	AAAAAG	AAAAAG			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25527490_25527491insAAAAAG	uc010tdh.1	-						TPTE2P1_uc001upx.3_Intron	NR_026730				RecName: Full=C2 tensin-type domain-containing protein ENSP00000371290;												0																		---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33752160	33752161	+	Intron	INS	-	A	A	rs139657005	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33752160_33752161insA	uc001uuw.2	-						STARD13_uc001uuu.2_Intron|STARD13_uc001uuv.2_Intron|STARD13_uc001uux.2_Intron|STARD13_uc010tec.1_Intron|STARD13_uc010abh.1_Intron	NM_178006	NP_821074			StAR-related lipid transfer (START) domain						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)														---	---	---	---
TRPC4	7223	broad.mit.edu	37	13	38357626	38357627	+	Intron	INS	-	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38357626_38357627insG	uc001uws.2	-						TRPC4_uc010abv.2_5'Flank|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Intron|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263			transient receptor potential cation channel,						axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)														---	---	---	---
Unknown	0	broad.mit.edu	37	13	46014350	46014351	+	IGR	INS	-	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46014350_46014351insA								SLC25A30 (21834 upstream) : COG3 (24720 downstream)																																			---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101264909	101264922	+	Intron	DEL	ACACACACACACAC	-	-	rs74114800		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101264909_101264922delACACACACACACAC	uc001vou.2	-						TMTC4_uc001vot.2_Intron|TMTC4_uc010tja.1_Intron	NM_001079669	NP_001073137			transmembrane and tetratricopeptide repeat							integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
Unknown	0	broad.mit.edu	37	14	22999179	22999180	+	Intron	INS	-	C	C	rs138189166		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22999179_22999180insC	uc001wbw.2	+						uc010aja.1_Intron|uc010tmk.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc001wcx.3_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron|uc001wdv.3_Intron|uc001wec.2_Intron|uc001wee.3_Intron|uc010tmt.1_Intron|uc010ajv.1_Intron|uc001weg.2_Intron|uc001wei.2_Intron|uc001wej.2_Intron|uc001wek.2_Intron|uc001wel.2_Intron|uc001wem.3_Intron|uc001wen.1_Intron|uc001weo.2_Intron|uc001wep.2_Intron|uc001weq.2_Intron|uc001wer.2_Intron|uc001wet.2_Intron|uc001weu.2_Intron|uc001wev.2_Intron|uc001wew.2_Intron|uc010tmv.1_Intron|uc001wez.2_Intron|uc010ajx.1_Intron|uc001wfb.1_Intron|uc001wfd.1_Intron|uc001wfe.2_Intron|uc001wfg.2_Intron|uc001wfh.1_Intron|uc001wfi.2_Intron|uc001wfk.2_Intron|uc001wfl.2_Intron|uc010ajy.1_Intron|uc001wfn.2_Intron|uc001wfp.2_Intron|uc001wfq.1_Intron|uc001wfr.1_Intron|uc010ajz.1_Intron|uc001wfs.1_Intron|uc001wft.1_Intron|uc001wfu.2_Intron|uc001wfv.1_Intron|uc001wfw.1_Intron|uc001wfx.2_Intron|uc001wfy.1_Intron|uc001wfz.1_Intron|uc001wgb.2_5'Flank|uc001wgc.2_5'Flank|uc001wgd.2_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
NPAS3	64067	broad.mit.edu	37	14	34029215	34029216	+	Intron	INS	-	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:34029215_34029216insA	uc001wru.2	+						NPAS3_uc001wrs.2_Intron|NPAS3_uc001wrt.2_Intron|NPAS3_uc001wrv.2_Intron|NPAS3_uc001wrw.2_Intron	NM_173159	NP_071406			neuronal PAS domain protein 3 isoform 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)														---	---	---	---
CPSF2	53981	broad.mit.edu	37	14	92623897	92623898	+	Intron	DEL	AT	-	-	rs143351858		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92623897_92623898delAT	uc001yah.1	+							NM_017437	NP_059133			cleavage and polyadenylation specific factor 2						histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)														---	---	---	---
Unknown	0	broad.mit.edu	37	15	28900331	28900331	+	Intron	DEL	A	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28900331delA	uc010uan.1	+						uc010azc.2_Intron|uc010uao.1_5'Flank					Homo sapiens cDNA FLJ55955 complete cds, highly similar to HECT domain and RCC1-like domain-containing protein 2.																														---	---	---	---
Unknown	0	broad.mit.edu	37	15	84063040	84063041	+	IGR	INS	-	AGGG	AGGG			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:84063040_84063041insAGGG								BNC1 (109572 upstream) : SH3GL3 (53050 downstream)																																			---	---	---	---
TEKT5	146279	broad.mit.edu	37	16	10783379	10783379	+	Intron	DEL	T	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:10783379delT	uc002czz.1	-							NM_144674	NP_653275			tektin 5						microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	27088704	27088705	+	IGR	INS	-	CTTT	CTTT	rs143025532	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27088704_27088705insCTTT								C16orf82 (8218 upstream) : JMJD5 (126102 downstream)																																			---	---	---	---
CHRNB1	1140	broad.mit.edu	37	17	7359369	7359380	+	Intron	DEL	TTTTTTTTTTTT	-	-	rs67180661		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7359369_7359380delTTTTTTTTTTTT	uc002ghb.2	+						CHRNB1_uc010vty.1_Intron	NM_000747	NP_000738			nicotinic acetylcholine receptor beta 1 subunit						behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			ovary(2)	2		Prostate(122;0.157)																---	---	---	---
DHRS7C	201140	broad.mit.edu	37	17	9676167	9676169	+	In_Frame_Del	DEL	ACA	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9676167_9676169delACA	uc010vvb.1	-	5	645_647	c.645_647delTGT	c.(643-648)GTTGTC>GTC	p.215_216VV>V	DHRS7C_uc010cof.2_In_Frame_Del_p.214_215VV>V	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	215_216						extracellular region	binding|oxidoreductase activity				0																		---	---	---	---
PIGL	9487	broad.mit.edu	37	17	16223527	16223527	+	Intron	DEL	G	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16223527delG	uc002gpv.2	+							NM_004278	NP_004269			phosphatidylinositol glycan anchor biosynthesis,						C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)														---	---	---	---
Unknown	0	broad.mit.edu	37	17	25767701	25767704	+	IGR	DEL	CCCC	-	-	rs57324148		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:25767701_25767704delCCCC								WSB1 (127056 upstream) : KSR1 (31332 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	17	47342484	47342485	+	IGR	INS	-	TTCC	TTCC			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47342484_47342485insTTCC								PHOSPHO1 (34356 upstream) : ZNF652 (24084 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	18	5890005	5890005	+	IGR	DEL	A	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5890005delA								EPB41L3 (259363 upstream) : TMEM200C (179 downstream)																																			---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23759261	23759261	+	Intron	DEL	T	-	-	rs36120364		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:23759261delT	uc002kvq.2	+						PSMA8_uc002kvo.2_Intron|PSMA8_uc002kvp.2_Intron|PSMA8_uc002kvr.2_Intron	NM_144662	NP_653263			proteasome alpha 8 subunit isoform 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)															---	---	---	---
POLRMT	5442	broad.mit.edu	37	19	623080	623081	+	Intron	INS	-	T	T	rs142978491	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:623080_623081insT	uc002lpf.1	-							NM_005035	NP_005026			mitochondrial DNA-directed RNA polymerase						transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
ZNF613	79898	broad.mit.edu	37	19	52448837	52448838	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52448837_52448838delCT	uc002pxz.1	+	6	2124_2125	c.1701_1702delCT	c.(1699-1704)GACTCTfs	p.D567fs	ZNF613_uc002pya.1_Frame_Shift_Del_p.D531fs	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	567_568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)														---	---	---	---
C21orf81	391267	broad.mit.edu	37	21	15347257	15347258	+	Intron	INS	-	A	A	rs80199214		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:15347257_15347258insA	uc002yji.2	-							NR_027270				Homo sapiens C21orf81 protein (C21orf81) mRNA, complete cds.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	21	20229947	20229948	+	IGR	INS	-	T	T	rs140136910	by1000genomes;by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:20229947_20229948insT								TMPRSS15 (453977 upstream) : None (None downstream)																																			---	---	---	---
FBXO7	25793	broad.mit.edu	37	22	32875389	32875389	+	Intron	DEL	T	-	-	rs5845002		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32875389delT	uc003amq.2	+						FBXO7_uc003amp.1_Intron|FBXO7_uc003amr.2_Intron|FBXO7_uc003ams.2_Intron|FBXO7_uc003amt.2_Intron|FBXO7_uc003amu.2_Intron	NM_012179	NP_036311			F-box only protein 7 isoform 1						cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1																		---	---	---	---
PPP2R3B	28227	broad.mit.edu	37	X	322035	322038	+	Intron	DEL	CTCA	-	-			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:322035_322038delCTCA	uc004cpg.2	-						PPP2R3B_uc011mha.1_Intron	NM_013239	NP_037371			protein phosphatase 2, regulatory subunit B'',						cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---
TAS1R1	80835	broad.mit.edu	37	1	6631047	6631047	+	Silent	SNP	G	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6631047G>T	uc001ant.2	+	2	270	c.270G>T	c.(268-270)ACG>ACT	p.T90T	TAS1R1_uc001anu.2_Silent_p.T90T|TAS1R1_uc001anv.2_Silent_p.T90T|TAS1R1_uc001anw.2_Silent_p.T90T	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	90	Extracellular (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
ZMYM1	79830	broad.mit.edu	37	1	35580287	35580287	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35580287T>A	uc001bym.2	+	11	3004	c.2856T>A	c.(2854-2856)AAT>AAA	p.N952K	ZMYM1_uc001byn.2_Missense_Mutation_p.N952K|ZMYM1_uc010ohu.1_Missense_Mutation_p.N933K|ZMYM1_uc001byo.2_Missense_Mutation_p.N592K|ZMYM1_uc009vut.2_Missense_Mutation_p.N877K	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM domain containing 1	952						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---
SCP2	6342	broad.mit.edu	37	1	53416444	53416444	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53416444C>T	uc001cur.1	+	4	338	c.217C>T	c.(217-219)CAG>TAG	p.Q73*	SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_5'UTR|SCP2_uc010onp.1_Nonsense_Mutation_p.Q49*|SCP2_uc009vzi.1_Intron|SCP2_uc001cuq.1_Intron	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein	73					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1																		---	---	---	---
MYSM1	114803	broad.mit.edu	37	1	59148010	59148010	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:59148010T>A	uc009wab.1	-	8	729	c.706A>T	c.(706-708)ACA>TCA	p.T236S	MYSM1_uc001czc.2_RNA	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	236					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(1)	1	all_cancers(7;9.36e-06)																	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86426934	86426934	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86426934T>G	uc001dlj.2	-	24	2602	c.2560A>C	c.(2560-2562)ACA>CCA	p.T854P	COL24A1_uc001dli.2_5'UTR|COL24A1_uc010osd.1_Missense_Mutation_p.T154P|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	854	Collagen-like 5.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)														---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91843695	91843695	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91843695C>A	uc001doa.3	-	11	1382	c.1282G>T	c.(1282-1284)GTA>TTA	p.V428L	HFM1_uc010osu.1_Missense_Mutation_p.V107L|HFM1_uc010osv.1_Missense_Mutation_p.V112L|HFM1_uc001doc.1_Missense_Mutation_p.V428L	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	428	Helicase ATP-binding.						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)														---	---	---	---
DPYD	1806	broad.mit.edu	37	1	97564088	97564088	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:97564088T>G	uc001drv.2	-	21	2860	c.2723A>C	c.(2722-2724)AAG>ACG	p.K908T		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	908					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)													---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103345385	103345385	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103345385A>C	uc001dul.2	-	66	5446	c.5128T>G	c.(5128-5130)TTC>GTC	p.F1710V	COL11A1_uc001duk.2_Missense_Mutation_p.F906V|COL11A1_uc001dum.2_Missense_Mutation_p.F1722V|COL11A1_uc001dun.2_Missense_Mutation_p.F1671V|COL11A1_uc009weh.2_Missense_Mutation_p.F1594V	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1710	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)														---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103428284	103428284	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103428284T>G	uc001dul.2	-	39	3267	c.2949A>C	c.(2947-2949)GAA>GAC	p.E983D	COL11A1_uc001duk.2_Missense_Mutation_p.E179D|COL11A1_uc001dum.2_Missense_Mutation_p.E995D|COL11A1_uc001dun.2_Missense_Mutation_p.E944D|COL11A1_uc009weh.2_Missense_Mutation_p.E867D	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	983	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)														---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103449730	103449730	+	Silent	SNP	T	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103449730T>A	uc001dul.2	-	31	2838	c.2520A>T	c.(2518-2520)CCA>CCT	p.P840P	COL11A1_uc001duk.2_Missense_Mutation_p.Q31L|COL11A1_uc001dum.2_Silent_p.P852P|COL11A1_uc001dun.2_Silent_p.P801P|COL11A1_uc009weh.2_Silent_p.P724P	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	840	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)														---	---	---	---
HORMAD1	84072	broad.mit.edu	37	1	150680819	150680819	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150680819T>A	uc001evk.1	-	9	566	c.460A>T	c.(460-462)ATT>TTT	p.I154F	HORMAD1_uc001evl.1_Missense_Mutation_p.I147F|HORMAD1_uc001evm.1_Missense_Mutation_p.I74F	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	154	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
MNDA	4332	broad.mit.edu	37	1	158817531	158817531	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158817531A>G	uc001fsz.1	+	6	1201	c.1001A>G	c.(1000-1002)AAG>AGG	p.K334R		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	334	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)																	---	---	---	---
KCNJ10	3766	broad.mit.edu	37	1	160011340	160011340	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160011340C>G	uc001fuw.1	-	2	1133	c.983G>C	c.(982-984)AGC>ACC	p.S328T		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	328	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	p.S328R(1)		ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
ATP1A2	477	broad.mit.edu	37	1	160099907	160099907	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160099907C>T	uc001fvc.2	+	12	1609	c.1477C>T	c.(1477-1479)CGA>TGA	p.R493*	ATP1A2_uc001fvb.2_Nonsense_Mutation_p.R493*|ATP1A2_uc001fvd.2_Nonsense_Mutation_p.R229*|ATP1A2_uc009wtg.1_Nonsense_Mutation_p.R181*	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	493	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)															---	---	---	---
MGST3	4259	broad.mit.edu	37	1	165620333	165620333	+	Intron	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:165620333C>T	uc001gdf.2	+						MGST3_uc001gdg.2_Intron	NM_004528	NP_004519			microsomal glutathione S-transferase 3						leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)													---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185953419	185953419	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185953419A>G	uc001grq.1	+	19	3138	c.2909A>G	c.(2908-2910)AAC>AGC	p.N970S	HMCN1_uc001grr.1_Missense_Mutation_p.N311S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	970	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247752165	247752165	+	Silent	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247752165G>A	uc010pyy.1	+	1	504	c.504G>A	c.(502-504)CAG>CAA	p.Q168Q		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)															---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978812	247978812	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247978812C>A	uc001idm.1	-	1	220	c.220G>T	c.(220-222)GTC>TTC	p.V74F		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A,	74	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
OR2M4	26245	broad.mit.edu	37	1	248402782	248402782	+	Silent	SNP	T	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248402782T>A	uc010pzh.1	+	1	552	c.552T>A	c.(550-552)CTT>CTA	p.L184L		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	184	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)															---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8874845	8874845	+	Silent	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:8874845A>G	uc002qzc.2	-	28	3938	c.3756T>C	c.(3754-3756)ATT>ATC	p.I1252I	KIDINS220_uc010yiv.1_Silent_p.I961I|KIDINS220_uc002qzd.2_Silent_p.I1153I|KIDINS220_uc010yiw.1_Silent_p.I1196I|KIDINS220_uc002qzb.2_Silent_p.I106I	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate of 220 kDa	1252	Cytoplasmic (Potential).				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)																	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11774261	11774261	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11774261T>C	uc002rbk.1	+	29	5296	c.4996T>C	c.(4996-4998)TTC>CTC	p.F1666L	GREB1_uc002rbp.1_Missense_Mutation_p.F664L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1666						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)														---	---	---	---
APOB	338	broad.mit.edu	37	2	21229361	21229361	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21229361A>C	uc002red.2	-	26	10507	c.10379T>G	c.(10378-10380)TTT>TGT	p.F3460C		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3460	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---
XDH	7498	broad.mit.edu	37	2	31560556	31560556	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31560556G>A	uc002rnv.1	-	35	3981	c.3902C>T	c.(3901-3903)GCC>GTC	p.A1301V		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1301					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)													---	---	---	---
EML4	27436	broad.mit.edu	37	2	42556144	42556144	+	Silent	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:42556144C>T	uc002rsi.2	+	22	2722	c.2460C>T	c.(2458-2460)TGC>TGT	p.C820C	EML4_uc010fap.2_Silent_p.C762C|EML4_uc002rsj.2_Silent_p.C509C|EML4_uc010faq.2_Silent_p.C165C|EML4_uc010ynv.1_Silent_p.C84C	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	820					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250								T	ALK	NSCLC								---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50318534	50318534	+	Silent	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50318534A>C	uc010fbp.2	-	3	1347	c.540T>G	c.(538-540)GTT>GTG	p.V180V	NRXN1_uc002rxb.3_Silent_p.V887V|NRXN1_uc010fbq.2_Silent_p.V1255V|NRXN1_uc002rxe.3_Silent_p.V1215V	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	180	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50724496	50724496	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50724496A>T	uc010fbq.2	-	14	4451	c.2974T>A	c.(2974-2976)TTT>ATT	p.F992I	NRXN1_uc002rxb.3_Missense_Mutation_p.F624I|NRXN1_uc002rxe.3_Missense_Mutation_p.F952I|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---
SNRPG	6637	broad.mit.edu	37	2	70515259	70515259	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70515259C>T	uc002sgp.2	-	3	209	c.121G>A	c.(121-123)GTG>ATG	p.V41M	SNRPG_uc002sgo.2_RNA	NM_003096	NP_003087	P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	41					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding				0																		---	---	---	---
USP39	10713	broad.mit.edu	37	2	85872194	85872194	+	Silent	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85872194C>T	uc002sqe.2	+	11	1587	c.1551C>T	c.(1549-1551)CAC>CAT	p.H517H	USP39_uc002sqb.2_Silent_p.H248H|USP39_uc010ysu.1_Silent_p.H439H|USP39_uc010ysv.1_Silent_p.H414H|USP39_uc010fgn.1_Silent_p.H517H|USP39_uc002sqf.2_Silent_p.H517H|USP39_uc002sqg.2_Silent_p.H517H|USP39_uc010fgo.2_Intron	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	517					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1																		---	---	---	---
SLC9A2	6549	broad.mit.edu	37	2	103274407	103274407	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103274407T>G	uc002tca.2	+	2	816	c.674T>G	c.(673-675)GTC>GGC	p.V225G		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	225	Helical; Name=F/M5A; (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8																		---	---	---	---
IL1F5	26525	broad.mit.edu	37	2	113819728	113819728	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113819728G>A	uc002tis.2	+	4	276	c.143G>A	c.(142-144)CGG>CAG	p.R48Q	IL1F5_uc002tit.2_Missense_Mutation_p.R48Q	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	interleukin 1 family, member 5	48						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity				0																		---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141359066	141359066	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141359066C>T	uc002tvj.1	-	42	7914	c.6942G>A	c.(6940-6942)ATG>ATA	p.M2314I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2314	Extracellular (Potential).|LDL-receptor class B 24.				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)			---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166901795	166901795	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166901795T>C	uc010zcz.1	-	10	1438	c.1420A>G	c.(1420-1422)AGT>GGT	p.S474G	SCN1A_uc002udo.3_Missense_Mutation_p.S343G|SCN1A_uc010fpk.2_Missense_Mutation_p.S343G	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	474						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)													---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168097239	168097239	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168097239A>C	uc002udx.2	+	6	1053	c.1035A>C	c.(1033-1035)CAA>CAC	p.Q345H	XIRP2_uc010fpn.2_Missense_Mutation_p.Q378H|XIRP2_uc010fpo.2_Missense_Mutation_p.Q345H|XIRP2_uc010fpp.2_Missense_Mutation_p.Q345H|XIRP2_uc002udy.2_Missense_Mutation_p.Q170H|XIRP2_uc010fpq.2_Missense_Mutation_p.Q123H|XIRP2_uc010fpr.2_Missense_Mutation_p.Q123H	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	170					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---
KBTBD10	10324	broad.mit.edu	37	2	170374856	170374856	+	Silent	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170374856A>C	uc002ueu.1	+	4	1610	c.1533A>C	c.(1531-1533)TCA>TCC	p.S511S	KBTBD10_uc010zdh.1_Silent_p.S449S	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	511	Kelch 4.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0																		---	---	---	---
TTN	7273	broad.mit.edu	37	2	179436516	179436516	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179436516T>G	uc010zfg.1	-	275	66863	c.66639A>C	c.(66637-66639)GAA>GAC	p.E22213D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E15908D|TTN_uc010zfi.1_Missense_Mutation_p.E15841D|TTN_uc010zfj.1_Missense_Mutation_p.E15716D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23140							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	179614084	179614084	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179614084T>C	uc002unb.2	-	46	13267	c.13043A>G	c.(13042-13044)AAG>AGG	p.K4348R	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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	179642689	179642689	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179642689G>A	uc010zfg.1	-	25	4446	c.4222C>T	c.(4222-4224)CGT>TGT	p.R1408C	TTN_uc010zfh.1_Missense_Mutation_p.R1362C|TTN_uc010zfi.1_Missense_Mutation_p.R1362C|TTN_uc010zfj.1_Missense_Mutation_p.R1362C|TTN_uc002unb.2_Missense_Mutation_p.R1408C|uc002unc.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1408							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)															---	---	---	---
SESTD1	91404	broad.mit.edu	37	2	180008404	180008404	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180008404C>T	uc002uni.3	-	9	914	c.764G>A	c.(763-765)CGA>CAA	p.R255Q		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	255					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
TMEFF2	23671	broad.mit.edu	37	2	192863868	192863868	+	Silent	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192863868A>C	uc002utc.2	-	6	997	c.603T>G	c.(601-603)TCT>TCG	p.S201S		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two	201	Kazal-like 2.|Extracellular (Potential).					extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)															---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211465392	211465392	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211465392A>C	uc002vee.3	+	15	1795	c.1663A>C	c.(1663-1665)AAT>CAT	p.N555H	CPS1_uc010fur.2_Missense_Mutation_p.N561H|CPS1_uc010fus.2_Missense_Mutation_p.N104H	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	555	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---
SCG2	7857	broad.mit.edu	37	2	224462806	224462806	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:224462806A>C	uc002vnm.2	-	2	1328	c.1195T>G	c.(1195-1197)TTA>GTA	p.L399V		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	399					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)														---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225661762	225661762	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225661762T>G	uc010fwz.1	-	43	4985	c.4746A>C	c.(4744-4746)GAA>GAC	p.E1582D	DOCK10_uc002vob.2_Missense_Mutation_p.E1576D|DOCK10_uc002voa.2_Missense_Mutation_p.E238D|DOCK10_uc002voc.2_Missense_Mutation_p.E436D	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1582							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)														---	---	---	---
GRM7	2917	broad.mit.edu	37	3	6903475	6903475	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:6903475G>A	uc003bqm.2	+	1	674	c.400G>A	c.(400-402)GTG>ATG	p.V134M	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.V134M|GRM7_uc003bql.2_Missense_Mutation_p.V134M	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	134	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)													---	---	---	---
FBLN2	2199	broad.mit.edu	37	3	13660422	13660422	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:13660422C>T	uc011avb.1	+	7	2083	c.1958C>T	c.(1957-1959)CCG>CTG	p.P653L	FBLN2_uc011auz.1_Missense_Mutation_p.P679L|FBLN2_uc011ava.1_Missense_Mutation_p.P653L|FBLN2_uc011avc.1_Missense_Mutation_p.P653L	NM_001998	NP_001989	P98095	FBLN2_HUMAN	fibulin 2 isoform b precursor	653						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)															---	---	---	---
SLC4A7	9497	broad.mit.edu	37	3	27477957	27477957	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:27477957G>C	uc003cdv.2	-	5	555	c.484C>G	c.(484-486)CTT>GTT	p.L162V	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.L167V|SLC4A7_uc011aww.1_Missense_Mutation_p.L171V|SLC4A7_uc011awx.1_Missense_Mutation_p.L171V|SLC4A7_uc011awy.1_Missense_Mutation_p.L167V|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.L167V|SLC4A7_uc011axb.1_Missense_Mutation_p.L171V|SLC4A7_uc010hfm.2_Missense_Mutation_p.L167V|SLC4A7_uc003cdw.2_Missense_Mutation_p.L162V	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	162	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
PLXNB1	5364	broad.mit.edu	37	3	48454246	48454246	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48454246G>C	uc003csw.2	-	25	5029	c.4759C>G	c.(4759-4761)CGG>GGG	p.R1587G	PLXNB1_uc003cst.2_Missense_Mutation_p.R37G|PLXNB1_uc003csu.2_Missense_Mutation_p.R1404G|PLXNB1_uc003csx.2_Missense_Mutation_p.R1587G	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1587	Cytoplasmic (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74419075	74419075	+	Silent	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:74419075A>C	uc003dpm.1	-	6	806	c.726T>G	c.(724-726)GGT>GGG	p.G242G		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	242	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)														---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89445055	89445055	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89445055G>T	uc003dqy.2	+	6	1600	c.1375G>T	c.(1375-1377)GAA>TAA	p.E459*	EPHA3_uc003dqx.1_Nonsense_Mutation_p.E459*|EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	459	Extracellular (Potential).|Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---
BBX	56987	broad.mit.edu	37	3	107492048	107492048	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:107492048G>A	uc010hpr.2	+	11	1807	c.1480G>A	c.(1480-1482)GCA>ACA	p.A494T	BBX_uc003dwk.3_Missense_Mutation_p.A494T|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.A515T|BBX_uc003dwm.3_Missense_Mutation_p.A494T|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	494	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)															---	---	---	---
IFT80	57560	broad.mit.edu	37	3	160000338	160000338	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160000338T>C	uc011boy.1	-	14	1877	c.1444A>G	c.(1444-1446)ATT>GTT	p.I482V	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.I345V|IFT80_uc003fdd.1_Missense_Mutation_p.I165V|IFT80_uc003fde.1_Missense_Mutation_p.I345V	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	482						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
FGF12	2257	broad.mit.edu	37	3	191888237	191888237	+	Intron	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:191888237G>A	uc003fsx.2	-						FGF12_uc003fsy.2_Intron	NM_021032	NP_066360			fibroblast growth factor 12 isoform 1						cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			ovary(1)|skin(1)|lung(1)|pancreas(1)	4	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)														---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46252549	46252549	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46252549G>C	uc003gxc.3	-	9	1805	c.1132C>G	c.(1132-1134)CTT>GTT	p.L378V	GABRA2_uc010igc.2_Missense_Mutation_p.L378V|GABRA2_uc011bzc.1_Missense_Mutation_p.L383V	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	378	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
CEP135	9662	broad.mit.edu	37	4	56825870	56825870	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56825870G>A	uc003hbi.2	+	6	871	c.637G>A	c.(637-639)GTC>ATC	p.V213I	CEP135_uc003hbh.1_Missense_Mutation_p.V213I|CEP135_uc010igz.1_Missense_Mutation_p.V43I	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	213	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66467877	66467877	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66467877T>C	uc003hcy.2	-	3	585	c.392A>G	c.(391-393)AAA>AGA	p.K131R	EPHA5_uc003hcx.2_Missense_Mutation_p.K62R|EPHA5_uc003hcz.2_Missense_Mutation_p.K131R|EPHA5_uc011cah.1_Missense_Mutation_p.K131R|EPHA5_uc011cai.1_Missense_Mutation_p.K131R|EPHA5_uc003hda.2_Missense_Mutation_p.K131R	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	131	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24															TSP Lung(17;0.13)			---	---	---	---
TMPRSS11A	339967	broad.mit.edu	37	4	68780302	68780302	+	Intron	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68780302T>G	uc003hdr.1	-						LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Intron	NM_182606	NP_872412			transmembrane protease, serine 11A isoform 1						cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1																		---	---	---	---
BBS7	55212	broad.mit.edu	37	4	122749840	122749840	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122749840A>T	uc003ied.2	-	16	1894	c.1720T>A	c.(1720-1722)TCC>ACC	p.S574T	BBS7_uc003iee.1_Missense_Mutation_p.S574T	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7 protein isoform a	574					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---
SPATA5	166378	broad.mit.edu	37	4	123857268	123857268	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123857268A>T	uc003iez.3	+	7	1364	c.1291A>T	c.(1291-1293)ACT>TCT	p.T431S	SPATA5_uc003iey.2_Missense_Mutation_p.T430S	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	431					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0																		---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162463746	162463746	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:162463746A>G	uc003iqh.2	-	9	1551	c.1115T>C	c.(1114-1116)CTT>CCT	p.L372P	FSTL5_uc003iqi.2_Missense_Mutation_p.L371P|FSTL5_uc010iqv.2_Missense_Mutation_p.L371P	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	372	Ig-like 2.					extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)														---	---	---	---
CPE	1363	broad.mit.edu	37	4	166414329	166414329	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166414329C>T	uc003irg.3	+	7	1397	c.1120C>T	c.(1120-1122)CGA>TGA	p.R374*		NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein	374					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)											OREG0016391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166981315	166981315	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166981315A>G	uc003irh.1	+	15	2629	c.1982A>G	c.(1981-1983)GAG>GGG	p.E661G	TLL1_uc011cjn.1_Missense_Mutation_p.E684G|TLL1_uc011cjo.1_Missense_Mutation_p.E485G	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	661	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)														---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166986909	166986909	+	Silent	SNP	C	T	T	rs116134567	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166986909C>T	uc003irh.1	+	16	2729	c.2082C>T	c.(2080-2082)GGC>GGT	p.G694G	TLL1_uc011cjn.1_Silent_p.G717G|TLL1_uc011cjo.1_Silent_p.G518G	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	694	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)														---	---	---	---
TRIO	7204	broad.mit.edu	37	5	14477022	14477022	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14477022G>A	uc003jff.2	+	41	6109	c.6103G>A	c.(6103-6105)GAG>AAG	p.E2035K	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.E1684K	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2035	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52344611	52344611	+	Intron	SNP	C	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52344611C>G	uc003joy.2	+						ITGA2_uc011cqa.1_Intron|ITGA2_uc011cqb.1_Intron|ITGA2_uc011cqc.1_Intron|ITGA2_uc011cqd.1_Intron|ITGA2_uc011cqe.1_Intron	NM_002203	NP_002194			integrin alpha 2 precursor						axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)																---	---	---	---
PHF15	23338	broad.mit.edu	37	5	133914677	133914677	+	Silent	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:133914677G>A	uc003kzo.1	+	11	2222	c.2043G>A	c.(2041-2043)CCG>CCA	p.P681P	PHF15_uc011cxt.1_Silent_p.P725P|PHF15_uc003kzk.2_Silent_p.P741P|PHF15_uc003kzm.2_Silent_p.P682P|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	681	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
LECT2	3950	broad.mit.edu	37	5	135283166	135283166	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135283166A>T	uc003lbe.1	-	4	511	c.310T>A	c.(310-312)TAC>AAC	p.Y104N	FBXL21_uc003lbc.2_Intron	NM_002302	NP_002293	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2 precursor	104					chemotaxis|skeletal system development	cytoplasm|extracellular space				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140751010	140751010	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140751010C>A	uc003ljw.1	+	1	1049	c.1049C>A	c.(1048-1050)GCT>GAT	p.A350D	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.A350D|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	350	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SYNPO	11346	broad.mit.edu	37	5	150029699	150029699	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150029699C>T	uc003lsn.2	+	3	2968	c.2594C>T	c.(2593-2595)CCG>CTG	p.P865L	SYNPO_uc003lso.3_Missense_Mutation_p.P621L|SYNPO_uc003lsp.2_Missense_Mutation_p.P621L	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	865	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150897230	150897230	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150897230G>T	uc003lue.3	-	19	11427	c.11414C>A	c.(11413-11415)CCA>CAA	p.P3805Q	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P498Q	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3805	Extracellular (Potential).|Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
CYFIP2	26999	broad.mit.edu	37	5	156727880	156727880	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156727880A>G	uc003lwq.2	+	8	683	c.545A>G	c.(544-546)AAG>AGG	p.K182R	CYFIP2_uc011ddn.1_Missense_Mutation_p.K156R|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Missense_Mutation_p.K182R|CYFIP2_uc003lws.2_Missense_Mutation_p.K182R|CYFIP2_uc003lwt.2_Missense_Mutation_p.K60R|CYFIP2_uc011ddp.1_Intron|CYFIP2_uc003lwp.2_Missense_Mutation_p.K60R	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	182					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
NIPAL4	348938	broad.mit.edu	37	5	156890180	156890180	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156890180G>A	uc003lwx.3	+	2	418	c.302G>A	c.(301-303)AGC>AAC	p.S101N	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.S101N|NIPAL4_uc010jin.1_Missense_Mutation_p.A36T	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	101	Extracellular (Potential).					integral to membrane	receptor activity				0																		---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29591083	29591083	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29591083G>A	uc003nmt.3	-	8	1298	c.962C>T	c.(961-963)TCG>TTG	p.S321L	GABBR1_uc003nmp.3_Missense_Mutation_p.S204L|GABBR1_uc003nms.3_Missense_Mutation_p.S204L|GABBR1_uc003nmu.3_Missense_Mutation_p.S259L|GABBR1_uc011dlr.1_Missense_Mutation_p.S144L|GABBR1_uc011dls.1_Missense_Mutation_p.S321L	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	321	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)													---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32063394	32063394	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32063394C>T	uc003nzl.2	-	3	2438	c.2236G>A	c.(2236-2238)GGA>AGA	p.G746R		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	746	EGF-like 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43172806	43172806	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43172806G>A	uc003ouk.2	+	23	4660	c.4585G>A	c.(4585-4587)GGC>AGC	p.G1529S	CUL9_uc003oul.2_Missense_Mutation_p.G1529S|CUL9_uc010jyk.2_Missense_Mutation_p.G681S	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	1529					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
GPR63	81491	broad.mit.edu	37	6	97246357	97246357	+	Silent	SNP	C	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:97246357C>A	uc010kcl.2	-	3	1729	c.1251G>T	c.(1249-1251)ACG>ACT	p.T417T	GPR63_uc003pou.2_Silent_p.T417T	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	417	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)														---	---	---	---
POU3F2	5454	broad.mit.edu	37	6	99283602	99283602	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99283602G>T	uc003ppe.2	+	1	1023	c.853G>T	c.(853-855)GGA>TGA	p.G285*		NM_005604	NP_005595	P20265	PO3F2_HUMAN	POU domain, class 3, transcription factor 2	285	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)														---	---	---	---
CDC40	51362	broad.mit.edu	37	6	110531982	110531982	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110531982G>A	uc003pua.2	+	6	727	c.703G>A	c.(703-705)GGG>AGG	p.G235R		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	235					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)														---	---	---	---
TPD52L1	7164	broad.mit.edu	37	6	125550316	125550316	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:125550316A>G	uc003pzu.1	+	3	407	c.188A>G	c.(187-189)CAT>CGT	p.H63R	TPD52L1_uc003pzv.1_Missense_Mutation_p.H63R|TPD52L1_uc003pzw.1_Missense_Mutation_p.H63R|TPD52L1_uc003pzx.1_Missense_Mutation_p.H34R|TPD52L1_uc003pzy.1_Missense_Mutation_p.H34R|TPD52L1_uc003pzz.1_Missense_Mutation_p.H34R	NM_003287	NP_003278	Q16890	TPD53_HUMAN	tumor protein D52-like 1 isoform 1	63	Potential.				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)														---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152552689	152552689	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152552689T>C	uc010kiw.2	-	114	21478	c.20876A>G	c.(20875-20877)GAC>GGC	p.D6959G	SYNE1_uc010kiv.2_Missense_Mutation_p.D1483G|SYNE1_uc003qos.3_Missense_Mutation_p.D1483G|SYNE1_uc003qot.3_Missense_Mutation_p.D6888G|SYNE1_uc003qou.3_Missense_Mutation_p.D6959G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6959	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152768683	152768683	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152768683T>G	uc010kiw.2	-	29	4181	c.3579A>C	c.(3577-3579)GAA>GAC	p.E1193D	SYNE1_uc003qot.3_Missense_Mutation_p.E1200D|SYNE1_uc003qou.3_Missense_Mutation_p.E1193D|SYNE1_uc010kjb.1_Missense_Mutation_p.E1176D|SYNE1_uc003qow.2_Missense_Mutation_p.E488D|SYNE1_uc003qox.1_Missense_Mutation_p.E709D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1193	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SUN1	23353	broad.mit.edu	37	7	901071	901071	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:901071G>T	uc011jvp.1	+	16	1913	c.1834G>T	c.(1834-1836)GGG>TGG	p.G612W	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.G529W|SUN1_uc011jvq.1_Missense_Mutation_p.G509W|SUN1_uc003sjg.2_Missense_Mutation_p.G517W|SUN1_uc011jvr.1_Missense_Mutation_p.G410W|SUN1_uc003sji.2_Missense_Mutation_p.G450W|SUN1_uc003sjk.2_Missense_Mutation_p.G251W	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	639	Perinuclear space.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0																		---	---	---	---
MICALL2	79778	broad.mit.edu	37	7	1481974	1481974	+	Missense_Mutation	SNP	G	A	A	rs149451475	byFrequency	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1481974G>A	uc003skj.3	-	7	1712	c.1565C>T	c.(1564-1566)ACG>ATG	p.T522M	MICALL2_uc003ski.3_Missense_Mutation_p.T9M	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	522						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)														---	---	---	---
AMZ1	155185	broad.mit.edu	37	7	2752456	2752456	+	Nonsense_Mutation	SNP	C	T	T	rs145687592	byFrequency	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2752456C>T	uc003smr.1	+	7	1802	c.1441C>T	c.(1441-1443)CGA>TGA	p.R481*	AMZ1_uc003sms.1_3'UTR|AMZ1_uc011jwa.1_Nonsense_Mutation_p.R230*	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	481							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)														---	---	---	---
SDK1	221935	broad.mit.edu	37	7	3991562	3991562	+	Intron	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:3991562G>A	uc003smx.2	+							NM_152744	NP_689957			sidekick 1 precursor						cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4281455	4281455	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4281455T>G	uc003smx.2	+	43	6300	c.6161T>G	c.(6160-6162)GTG>GGG	p.V2054G	SDK1_uc010kso.2_Missense_Mutation_p.V1310G|SDK1_uc003smy.2_Missense_Mutation_p.V541G|SDK1_uc003smz.2_Missense_Mutation_p.V114G	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2054	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---
SNX13	23161	broad.mit.edu	37	7	17889982	17889982	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:17889982C>G	uc003stw.1	-	11	1266	c.1053G>C	c.(1051-1053)TTG>TTC	p.L351F	SNX13_uc003stv.2_Missense_Mutation_p.L351F|SNX13_uc010kuc.2_Missense_Mutation_p.L148F			Q9Y5W8	SNX13_HUMAN	SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;	351					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			central_nervous_system(2)|kidney(1)	3	Lung NSC(10;0.0261)|all_lung(11;0.0521)																	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34182980	34182980	+	Intron	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:34182980A>G	uc011kap.1	+							NM_133468	NP_597725			BMP-binding endothelial regulator precursor						blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	38393378	38393378	+	Intron	SNP	T	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38393378T>A	uc003tgp.1	+											Homo sapiens cDNA FLJ43658 fis, clone SYNOV4004184.																														---	---	---	---
Unknown	0	broad.mit.edu	37	7	38393388	38393388	+	Intron	SNP	C	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38393388C>G	uc003tgp.1	+											Homo sapiens cDNA FLJ43658 fis, clone SYNOV4004184.																														---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43351434	43351434	+	Silent	SNP	C	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43351434C>A	uc003tid.1	+	4	705	c.100C>A	c.(100-102)CGG>AGG	p.R34R	HECW1_uc011kbi.1_Silent_p.R34R|HECW1_uc003tie.1_Silent_p.R66R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	34					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23																		---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	69364285	69364285	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:69364285T>G	uc003tvw.3	+	2	1066	c.323T>G	c.(322-324)CTT>CGT	p.L108R	AUTS2_uc003tvv.3_Missense_Mutation_p.L108R|AUTS2_uc003tvx.3_Missense_Mutation_p.L108R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	108										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)														---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82508700	82508700	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82508700T>A	uc003uhx.2	-	10	13896	c.13607A>T	c.(13606-13608)AAG>ATG	p.K4536M	PCLO_uc003uhv.2_Missense_Mutation_p.K4536M|PCLO_uc003uht.1_Translation_Start_Site|PCLO_uc003uhu.1_Translation_Start_Site	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87179157	87179157	+	Intron	SNP	G	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87179157G>T	uc003uiz.1	-						ABCB1_uc011khc.1_Intron	NM_000927	NP_000918			ATP-binding cassette, subfamily B, member 1						G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)													---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87179209	87179209	+	Silent	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87179209G>A	uc003uiz.1	-	14	1930	c.1512C>T	c.(1510-1512)GTC>GTT	p.V504V	ABCB1_uc011khc.1_Silent_p.V440V	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	504	ABC transporter 1.|Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)													---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87179236	87179236	+	Silent	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87179236G>A	uc003uiz.1	-	14	1903	c.1485C>T	c.(1483-1485)GTC>GTT	p.V495V	ABCB1_uc011khc.1_Silent_p.V431V	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	495	ABC transporter 1.|Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)													---	---	---	---
CALCR	799	broad.mit.edu	37	7	93073026	93073026	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:93073026G>A	uc003umv.1	-	10	1055	c.794C>T	c.(793-795)GCC>GTC	p.A265V	CALCR_uc011kia.1_Missense_Mutation_p.A45V|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.A231V|CALCR_uc003umw.2_Missense_Mutation_p.A231V	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor isoform 2 precursor	247	Helical; Name=3; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)													---	---	---	---
ASNS	440	broad.mit.edu	37	7	97498368	97498368	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97498368A>T	uc003uot.3	-	3	607	c.101T>A	c.(100-102)TTT>TAT	p.F34Y	ASNS_uc011kin.1_Intron|ASNS_uc003uou.3_Missense_Mutation_p.F34Y|ASNS_uc003uov.3_Missense_Mutation_p.F34Y|ASNS_uc011kio.1_Missense_Mutation_p.F13Y|ASNS_uc003uow.3_Missense_Mutation_p.F13Y|ASNS_uc003uox.3_Intron	NM_133436	NP_597680	P08243	ASNS_HUMAN	asparagine synthetase	34	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100364728	100364728	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100364728C>T	uc003uwj.2	+	25	4873	c.4708C>T	c.(4708-4710)CGG>TGG	p.R1570W	ZAN_uc003uwk.2_Missense_Mutation_p.R1570W|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.R147W	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1570	Extracellular (Potential).|VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)															---	---	---	---
FBXL13	222235	broad.mit.edu	37	7	102524052	102524052	+	Silent	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102524052A>G	uc003vaq.2	-	13	1615	c.1188T>C	c.(1186-1188)GCT>GCC	p.A396A	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Silent_p.A396A|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.A396A	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13 isoform	396	LRR 7.										0																		---	---	---	---
HYAL4	23553	broad.mit.edu	37	7	123508490	123508490	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:123508490C>T	uc003vlc.2	+	3	801	c.163C>T	c.(163-165)CCA>TCA	p.P55S	HYAL4_uc011knz.1_Missense_Mutation_p.P55S	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	55	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1																		---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126079223	126079223	+	Intron	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:126079223C>T	uc003vlr.2	-						GRM8_uc003vls.2_Intron|GRM8_uc011kof.1_Intron|GRM8_uc003vlt.2_Intron|GRM8_uc010lkz.1_Intron	NM_000845	NP_000836			glutamate receptor, metabotropic 8 isoform a						negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)										HNSCC(24;0.065)			---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137339471	137339471	+	Intron	SNP	T	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137339471T>C	uc003vtt.2	-						DGKI_uc003vtu.2_Intron	NM_004717	NP_004708			diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	152143422	152143422	+	IGR	SNP	C	T	T	rs140765877	byFrequency	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:152143422C>T								FABP5L3 (3324 upstream) : LOC100128822 (17787 downstream)																																			---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2820740	2820740	+	Intron	SNP	T	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2820740T>C	uc011kwk.1	-						CSMD1_uc011kwj.1_Intron|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094			CUB and Sushi multiple domains 1 precursor							integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
XKR6	286046	broad.mit.edu	37	8	10756092	10756092	+	Silent	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10756092G>A	uc003wtk.1	-	3	1323	c.1296C>T	c.(1294-1296)AAC>AAT	p.N432N		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	432	Helical; (Potential).					integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)														---	---	---	---
LONRF1	91694	broad.mit.edu	37	8	12586774	12586774	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12586774C>A	uc003wwd.1	-	9	1819	c.1756G>T	c.(1756-1758)GTA>TTA	p.V586L	LONRF1_uc011kxv.1_Missense_Mutation_p.V175L|LONRF1_uc010lsp.1_Missense_Mutation_p.V186L	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger	586	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
MSR1	4481	broad.mit.edu	37	8	16001087	16001087	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:16001087T>G	uc003wwz.2	-	8	1211	c.1013A>C	c.(1012-1014)AAG>ACG	p.K338T	MSR1_uc010lsu.2_Missense_Mutation_p.K356T|MSR1_uc003wxa.2_Missense_Mutation_p.K338T|MSR1_uc003wxb.2_Missense_Mutation_p.K338T|MSR1_uc011kxz.1_Missense_Mutation_p.K112T	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	338	Collagen-like.|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)														---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72963089	72963089	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72963089T>G	uc003xza.2	-	15	2004	c.1829A>C	c.(1828-1830)AAG>ACG	p.K610T	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	610	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)													---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885207	88885207	+	Silent	SNP	G	A	A	rs139934952		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:88885207G>A	uc003ydz.2	-	1	1090	c.993C>T	c.(991-993)GCC>GCT	p.A331A		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	331	WD 2.									ovary(1)	1																		---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100654352	100654352	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100654352C>T	uc003yiv.2	+	34	5720	c.5609C>T	c.(5608-5610)ACA>ATA	p.T1870I	VPS13B_uc003yiw.2_Missense_Mutation_p.T1845I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1870					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---
TM7SF4	81501	broad.mit.edu	37	8	105367226	105367226	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105367226T>G	uc003ylx.1	+	3	1200	c.1151T>G	c.(1150-1152)CTT>CGT	p.L384R		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	dendritic cell-specific transmembrane protein	384	Helical; (Potential).				osteoclast differentiation	cell surface|integral to membrane|plasma membrane				pancreas(2)|large_intestine(1)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)															---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110460518	110460518	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110460518G>A	uc003yne.2	+	39	6027	c.5923G>A	c.(5923-5925)GGC>AGC	p.G1975S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1975	Extracellular (Potential).|IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---
Unknown	0	broad.mit.edu	37	9	82006480	82006480	+	IGR	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82006480A>C								None (None upstream) : TLE4 (180398 downstream)																																			---	---	---	---
FLJ46321	389763	broad.mit.edu	37	9	84608559	84608559	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84608559A>C	uc004amn.2	+	4	3221	c.3174A>C	c.(3172-3174)CAA>CAC	p.Q1058H		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1058						integral to membrane					0																		---	---	---	---
DIRAS2	54769	broad.mit.edu	37	9	93375994	93375994	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:93375994G>A	uc004aqx.1	-	2	227	c.116C>T	c.(115-117)ACG>ATG	p.T39M		NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Di-Ras2	39	Effector region (Potential).|GTP.				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity				0																		---	---	---	---
WNK2	65268	broad.mit.edu	37	9	96021299	96021299	+	Silent	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:96021299G>A	uc004ati.1	+	11	2469	c.2469G>A	c.(2467-2469)GCG>GCA	p.A823A	WNK2_uc011lud.1_Silent_p.A823A|WNK2_uc004atj.2_Silent_p.A823A|WNK2_uc004atk.2_Silent_p.A460A|WNK2_uc010mrc.1_Silent_p.A771A	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	823					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12																		---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104449443	104449443	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104449443T>G	uc004bbp.1	-	2	1340	c.739A>C	c.(739-741)AGT>CGT	p.S247R	GRIN3A_uc004bbq.1_Missense_Mutation_p.S247R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	247	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)													---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119568025	119568025	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119568025T>C	uc004bjs.1	-	13	2383	c.2282A>G	c.(2281-2283)AAG>AGG	p.K761R	ASTN2_uc004bjr.1_Missense_Mutation_p.K757R|ASTN2_uc004bjt.1_Missense_Mutation_p.K710R	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	761	Extracellular (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---
RBM18	92400	broad.mit.edu	37	9	125004185	125004185	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125004185G>A	uc004bma.2	-	6	717	c.551C>T	c.(550-552)ACA>ATA	p.T184I	RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	184							nucleotide binding|RNA binding				0																		---	---	---	---
MED27	9442	broad.mit.edu	37	9	134889767	134889767	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134889767G>A	uc004cbe.1	-	3	458	c.436C>T	c.(436-438)CGT>TGT	p.R146C	MED27_uc004cbf.1_Missense_Mutation_p.R146C|MED27_uc011mco.1_Missense_Mutation_p.R146C|MED27_uc004cbg.3_Missense_Mutation_p.R146C	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	146					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			skin(1)	1		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)														---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17089449	17089449	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17089449G>A	uc001ioo.2	-	23	3345	c.3293C>T	c.(3292-3294)GCC>GTC	p.A1098V		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1098	CUB 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18331769	18331769	+	3'UTR	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18331769A>G	uc001ipo.2	+	13					SLC39A12_uc001ipn.2_3'UTR|SLC39A12_uc001ipp.2_3'UTR|SLC39A12_uc010qck.1_3'UTR	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																		---	---	---	---
PRKG1	5592	broad.mit.edu	37	10	54048726	54048726	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:54048726A>G	uc001jjm.2	+	16	2017	c.1823A>G	c.(1822-1824)AAT>AGT	p.N608S	PRKG1_uc001jjo.2_Missense_Mutation_p.N623S|PRKG1_uc009xow.1_Missense_Mutation_p.N326S|uc001jjq.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	608	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)														---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582881	55582881	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55582881T>G	uc001jju.1	-	33	5000	c.4605A>C	c.(4603-4605)CAA>CAC	p.Q1535H	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1532H|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1495H|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1466H|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1542H|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1537H|PCDH15_uc010qia.1_Missense_Mutation_p.Q1515H|PCDH15_uc010qib.1_Missense_Mutation_p.Q1512H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1535	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125506339	125506339	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:125506339C>T	uc001lhk.1	-	14	2537	c.2212G>A	c.(2212-2214)GTC>ATC	p.V738I	CPXM2_uc001lhj.2_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	738					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)														---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	133106495	133106495	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:133106495A>C	uc001lkp.2	-	3	735	c.649T>G	c.(649-651)TTA>GTA	p.L217V		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	217										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)														---	---	---	---
CDHR5	53841	broad.mit.edu	37	11	621096	621096	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:621096G>T	uc001lqj.2	-	7	878	c.773C>A	c.(772-774)CCC>CAC	p.P258H	CDHR5_uc001lqk.2_Missense_Mutation_p.P258H|CDHR5_uc009ycc.2_Missense_Mutation_p.P92H|CDHR5_uc009ycd.2_Missense_Mutation_p.P258H|CDHR5_uc001lql.2_Missense_Mutation_p.P258H|CDHR5_uc001lqm.2_Missense_Mutation_p.P92H|CDHR5_uc009yce.1_Missense_Mutation_p.P227H	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	mucin and cadherin-like isoform 1	258	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0																		---	---	---	---
OR51B6	390058	broad.mit.edu	37	11	5372918	5372918	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5372918T>G	uc010qzb.1	+	1	181	c.181T>G	c.(181-183)TTA>GTA	p.L61V	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,	61	Helical; Name=2; (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)														---	---	---	---
C11orf17	56672	broad.mit.edu	37	11	8933081	8933081	+	Silent	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8933081C>T	uc001mgx.2	+	2	161	c.85C>T	c.(85-87)CTG>TTG	p.L29L	ST5_uc001mgv.2_5'Flank|C11orf17_uc001mgz.2_Silent_p.L29L|C11orf17_uc001mgy.2_Silent_p.L29L|C11orf17_uc010rbr.1_Silent_p.L29L|C11orf17_uc010rbs.1_Silent_p.L29L|C11orf17_uc001mha.2_Silent_p.L29L	NM_020642	NP_065693	Q9NQ31	AKIP1_HUMAN	chromosome 11 open reading frame 17	29						nucleus	protein binding				0				Epithelial(150;5.08e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0243)														---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14808011	14808011	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14808011T>G	uc001mln.2	+	3	1411	c.1058T>G	c.(1057-1059)CTT>CGT	p.L353R	PDE3B_uc010rcr.1_Missense_Mutation_p.L353R	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	353					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0																		---	---	---	---
E2F8	79733	broad.mit.edu	37	11	19246915	19246915	+	Silent	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19246915G>A	uc001mpm.2	-	12	2796	c.2274C>T	c.(2272-2274)ATC>ATT	p.I758I	E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Silent_p.I758I	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	758					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703010	55703010	+	Silent	SNP	C	T	T	rs9665863	byFrequency;by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55703010C>T	uc010ris.1	-	1	867	c.867G>A	c.(865-867)CCG>CCA	p.P289P		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56954758	56954758	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56954758A>C	uc001njl.1	+	2	977	c.830A>C	c.(829-831)GAG>GCG	p.E277A	LRRC55_uc001njm.1_5'Flank	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	247	LRRCT.					integral to membrane					0																		---	---	---	---
SUV420H1	51111	broad.mit.edu	37	11	67938597	67938597	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67938597T>G	uc001onm.1	-	9	1118	c.862A>C	c.(862-864)ACA>CCA	p.T288P	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.T116P|SUV420H1_uc009ysf.2_Missense_Mutation_p.T48P|SUV420H1_uc001ono.1_Missense_Mutation_p.T288P|SUV420H1_uc001onp.2_Missense_Mutation_p.T288P|SUV420H1_uc010rqa.1_Missense_Mutation_p.T265P|SUV420H1_uc001onq.2_Missense_Mutation_p.T288P	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	288	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3																		---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101857630	101857630	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101857630G>C	uc001pgm.2	+	9	3372	c.3102G>C	c.(3100-3102)GAG>GAC	p.E1034D	KIAA1377_uc001pgn.2_Missense_Mutation_p.E990D|KIAA1377_uc010run.1_Missense_Mutation_p.E835D	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	1034							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103039508	103039508	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103039508T>A	uc001pho.2	+	32	4931	c.4787T>A	c.(4786-4788)CTT>CAT	p.L1596H	DYNC2H1_uc001phn.1_Missense_Mutation_p.L1596H|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1596	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
ALG9	79796	broad.mit.edu	37	11	111724102	111724102	+	Splice_Site	SNP	C	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111724102C>G	uc001pmb.2	-	9	994	c.895_splice	c.e9+1	p.G299_splice	ALG9_uc001ply.2_Splice_Site_p.G128_splice|ALG9_uc001plz.2_Splice_Site_p.G128_splice|ALG9_uc010rwm.1_Splice_Site_p.G299_splice|ALG9_uc010rwn.1_Splice_Site_p.G253_splice|ALG9_uc010rwo.1_Splice_Site_p.G127_splice|ALG9_uc009yyh.1_Splice_Site_p.G194_splice	NM_001077690	NP_001071158			asparagine-linked glycosylation 9 protein						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			large_intestine(1)|ovary(1)	2		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)														---	---	---	---
FAM55D	54827	broad.mit.edu	37	11	114442189	114442189	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114442189T>G	uc001ppc.2	-	6	1287	c.1106A>C	c.(1105-1107)AAG>ACG	p.K369T	FAM55D_uc001ppd.2_Missense_Mutation_p.K85T	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	369						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)														---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115110994	115110994	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:115110994G>A	uc001ppi.3	-	2	400	c.271C>T	c.(271-273)CCT>TCT	p.P91S	CADM1_uc001ppf.3_Missense_Mutation_p.P91S|CADM1_uc001ppk.3_Missense_Mutation_p.P91S|CADM1_uc001ppj.3_Missense_Mutation_p.P91S|CADM1_uc001ppl.2_Missense_Mutation_p.P91S	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	91	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)														---	---	---	---
CCDC153	283152	broad.mit.edu	37	11	119061489	119061489	+	Missense_Mutation	SNP	C	T	T	rs145189171	byFrequency	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119061489C>T	uc010rze.1	-	6	498	c.410G>A	c.(409-411)CGG>CAG	p.R137Q		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	coiled-coil domain containing 153	137	Potential.										0																		---	---	---	---
TBCEL	219899	broad.mit.edu	37	11	120924294	120924294	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120924294A>T	uc009zay.2	+	4	386	c.308A>T	c.(307-309)GAG>GTG	p.E103V	TBCEL_uc001pxo.2_Missense_Mutation_p.E103V|TBCEL_uc001pxp.2_Intron|TBCEL_uc001pxq.2_Intron	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	103	LRR 2.					cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	124134714	124134714	+	IGR	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124134714C>T								OR8G2 (38404 upstream) : OR8D1 (45023 downstream)																																			---	---	---	---
OR8B8	26493	broad.mit.edu	37	11	124310070	124310070	+	Silent	SNP	G	T	T	rs76671561	by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124310070G>T	uc010sal.1	-	1	912	c.912C>A	c.(910-912)ATC>ATA	p.I304I		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B,	304	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)														---	---	---	---
CDON	50937	broad.mit.edu	37	11	125831880	125831880	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125831880T>G	uc009zbw.2	-	19	3498	c.3370A>C	c.(3370-3372)ACC>CCC	p.T1124P	CDON_uc001qdb.3_Missense_Mutation_p.T501P|CDON_uc001qdc.3_Missense_Mutation_p.T1124P	NM_016952	NP_058648	Q4KMG0	CDON_HUMAN	surface glycoprotein, Ig superfamily member	1124	Cytoplasmic (Potential).				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|skin(2)|breast(1)	6	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)														---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2695038	2695038	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2695038A>G	uc009zdu.1	+	18	2811	c.2498A>G	c.(2497-2499)GAT>GGT	p.D833G	CACNA1C_uc009zdv.1_Missense_Mutation_p.D830G|CACNA1C_uc001qkb.2_Missense_Mutation_p.D833G|CACNA1C_uc001qkc.2_Missense_Mutation_p.D833G|CACNA1C_uc001qke.2_Missense_Mutation_p.D833G|CACNA1C_uc001qkf.2_Missense_Mutation_p.D833G|CACNA1C_uc001qjz.2_Missense_Mutation_p.D833G|CACNA1C_uc001qkd.2_Missense_Mutation_p.D833G|CACNA1C_uc001qkg.2_Missense_Mutation_p.D833G|CACNA1C_uc009zdw.1_Missense_Mutation_p.D833G|CACNA1C_uc001qkh.2_Missense_Mutation_p.D833G|CACNA1C_uc001qkl.2_Missense_Mutation_p.D833G|CACNA1C_uc001qkn.2_Missense_Mutation_p.D833G|CACNA1C_uc001qko.2_Missense_Mutation_p.D833G|CACNA1C_uc001qkp.2_Missense_Mutation_p.D833G|CACNA1C_uc001qkr.2_Missense_Mutation_p.D833G|CACNA1C_uc001qku.2_Missense_Mutation_p.D833G|CACNA1C_uc001qkq.2_Missense_Mutation_p.D833G|CACNA1C_uc001qks.2_Missense_Mutation_p.D833G|CACNA1C_uc001qkt.2_Missense_Mutation_p.D833G|CACNA1C_uc001qka.1_Missense_Mutation_p.D368G|CACNA1C_uc001qki.1_Missense_Mutation_p.D569G|CACNA1C_uc001qkj.1_Missense_Mutation_p.D569G|CACNA1C_uc001qkk.1_Missense_Mutation_p.D569G|CACNA1C_uc001qkm.1_Missense_Mutation_p.D569G|CACNA1C_uc001qkw.2_Missense_Mutation_p.D122G	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	833	Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)													---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5672617	5672617	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5672617C>A	uc001qnm.2	-	26	2917	c.2845G>T	c.(2845-2847)GAG>TAG	p.E949*		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	954	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7																		---	---	---	---
RIMKLB	57494	broad.mit.edu	37	12	8904593	8904593	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8904593A>C	uc001quu.2	+	4	698	c.447A>C	c.(445-447)GAA>GAC	p.E149D	RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.E149D|RIMKLB_uc010sgl.1_Missense_Mutation_p.E149D|RIMKLB_uc001quw.2_Missense_Mutation_p.E149D	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	149	ATP-grasp.|ATP (By similarity).				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0																		---	---	---	---
CPNE8	144402	broad.mit.edu	37	12	39161531	39161531	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:39161531A>C	uc001rls.1	-	8	565	c.481T>G	c.(481-483)TTG>GTG	p.L161V		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	copine VIII	161	C2 2.									pancreas(1)	1	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)																---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40702491	40702491	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40702491T>G	uc001rmg.3	+	29	4303	c.4182T>G	c.(4180-4182)GAT>GAG	p.D1394E	LRRK2_uc009zjw.2_Missense_Mutation_p.D232E|LRRK2_uc001rmi.2_Missense_Mutation_p.D227E	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1394	Roc.				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)																---	---	---	---
TMEM117	84216	broad.mit.edu	37	12	44537360	44537360	+	Missense_Mutation	SNP	G	A	A	rs145821678		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:44537360G>A	uc001rod.2	+	4	509	c.443G>A	c.(442-444)CGA>CAA	p.R148Q	TMEM117_uc001roe.2_Intron|TMEM117_uc009zkc.2_Missense_Mutation_p.R148Q	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	148						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)														---	---	---	---
NELL2	4753	broad.mit.edu	37	12	44902705	44902705	+	3'UTR	SNP	A	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:44902705A>T	uc001rog.2	-	20					NELL2_uc001rof.3_3'UTR|NELL2_uc001roh.2_3'UTR|NELL2_uc009zkd.2_3'UTR|NELL2_uc010skz.1_3'UTR|NELL2_uc010sla.1_3'UTR	NM_001145108	NP_001138580			NEL-like protein 2 isoform b precursor						cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)														---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	73046922	73046922	+	Silent	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:73046922G>A	uc001sxa.2	+	17	2865	c.2835G>A	c.(2833-2835)AAG>AAA	p.K945K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	945	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	73056836	73056836	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:73056836A>G	uc001sxa.2	+	19	2966	c.2936A>G	c.(2935-2937)AAG>AGG	p.K979R		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	979	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400322	78400322	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78400322A>G	uc001syp.2	+	8	1177	c.1004A>G	c.(1003-1005)AAG>AGG	p.K335R	NAV3_uc001syo.2_Missense_Mutation_p.K335R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	335						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---
ALX1	8092	broad.mit.edu	37	12	85677515	85677515	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85677515A>C	uc001tae.3	+	2	396	c.392A>C	c.(391-393)AAG>ACG	p.K131T		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	131					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)														---	---	---	---
C12orf63	374467	broad.mit.edu	37	12	97147597	97147597	+	Silent	SNP	G	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:97147597G>C	uc001tet.1	+	23	3114	c.3036G>C	c.(3034-3036)CTG>CTC	p.L1012L		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1012										skin(6)|ovary(1)	7																		---	---	---	---
OAS1	4938	broad.mit.edu	37	12	113348905	113348905	+	Silent	SNP	C	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113348905C>G	uc001tud.2	+	3	625	c.519C>G	c.(517-519)CTC>CTG	p.L173L	OAS1_uc010syn.1_Silent_p.L172L|OAS1_uc010syo.1_Missense_Mutation_p.H157D|OAS1_uc001tub.2_Silent_p.L173L|OAS1_uc001tuc.2_Silent_p.L173L|OAS1_uc009zwf.2_Silent_p.L172L	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	173					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2																		---	---	---	---
PXN	5829	broad.mit.edu	37	12	120654844	120654844	+	Intron	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120654844G>A	uc001txt.2	-						PXN_uc001txu.2_5'UTR|PXN_uc001txv.2_Intron|PXN_uc001txx.2_Intron|PXN_uc001txy.2_Intron|PXN_uc001txz.2_RNA	NM_001080855	NP_001074324			paxillin isoform 1						cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			ovary(1)|breast(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19751387	19751387	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:19751387C>T	uc009zzj.2	-	4	785	c.736G>A	c.(736-738)GGG>AGG	p.G246R		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	246					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)														---	---	---	---
FGF9	2254	broad.mit.edu	37	13	22275526	22275526	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:22275526C>G	uc001uog.2	+	3	1416	c.579C>G	c.(577-579)GAC>GAG	p.D193E		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	193					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)														---	---	---	---
SACS	26278	broad.mit.edu	37	13	23928866	23928866	+	Missense_Mutation	SNP	C	G	G	rs149638449	byFrequency	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23928866C>G	uc001uon.2	-	8	2474	c.1885G>C	c.(1885-1887)GCG>CCG	p.A629P	SACS_uc001uoo.2_Missense_Mutation_p.A482P|SACS_uc001uop.1_Missense_Mutation_p.A416P|SACS_uc001uoq.1_Missense_Mutation_p.A482P	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	629					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)														---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	66878829	66878829	+	Silent	SNP	T	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:66878829T>C	uc001vik.2	-	5	4364	c.3672A>G	c.(3670-3672)CAA>CAG	p.Q1224Q	PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.Q1190Q|PCDH9_uc010thl.1_Silent_p.Q1182Q	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	1224	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)														---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70413190	70413190	+	Silent	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:70413190A>C	uc001vip.2	-	6	2126	c.1332T>G	c.(1330-1332)ACT>ACG	p.T444T	KLHL1_uc010thm.1_Silent_p.T383T	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	444					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)														---	---	---	---
EDNRB	1910	broad.mit.edu	37	13	78492452	78492452	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:78492452G>A	uc001vko.2	-	1	515	c.257C>T	c.(256-258)TCC>TTC	p.S86F	uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.S86F|EDNRB_uc010aez.1_Missense_Mutation_p.S86F|EDNRB_uc001vkp.1_Missense_Mutation_p.S169F|EDNRB_uc010afa.1_Missense_Mutation_p.S86F	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN	endothelin receptor type B isoform 1 precursor	86	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding				0		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)													---	---	---	---
OSGEP	55644	broad.mit.edu	37	14	20916264	20916264	+	Splice_Site	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20916264C>T	uc001vxf.2	-	7	1058	c.702_splice	c.e7+1	p.Q234_splice		NM_017807	NP_060277			O-sialoglycoprotein endopeptidase						proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding				0	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)														---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33291095	33291095	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33291095A>C	uc001wrq.2	+	13	4246	c.4076A>C	c.(4075-4077)AAT>ACT	p.N1359T		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1359					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---
KIAA0317	9870	broad.mit.edu	37	14	75136769	75136769	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75136769G>A	uc001xqb.2	-	14	2174	c.1669C>T	c.(1669-1671)CGG>TGG	p.R557W	KIAA0317_uc010tut.1_Missense_Mutation_p.R396W	NM_001039479	NP_001034568	O15033	K0317_HUMAN	hypothetical protein LOC9870	557	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00404)														---	---	---	---
TTC8	123016	broad.mit.edu	37	14	89307215	89307215	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89307215G>C	uc010ath.2	+	3	376	c.242G>C	c.(241-243)GGA>GCA	p.G81A	TTC8_uc010atg.1_RNA|TTC8_uc001xxl.2_5'UTR|TTC8_uc010ati.2_5'UTR|TTC8_uc001xxm.2_Missense_Mutation_p.G81A|TTC8_uc010atj.2_Intron|TTC8_uc001xxi.2_Missense_Mutation_p.G91A|TTC8_uc001xxj.2_Missense_Mutation_p.G81A|TTC8_uc001xxk.2_Missense_Mutation_p.G81A	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8 isoform B	91					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding				0														Bardet-Biedl_syndrome				---	---	---	---
CATSPERB	79820	broad.mit.edu	37	14	92102836	92102836	+	Missense_Mutation	SNP	C	T	T	rs143234075		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92102836C>T	uc001xzs.1	-	17	1815	c.1675G>A	c.(1675-1677)GAA>AAA	p.E559K	CATSPERB_uc010aub.1_Missense_Mutation_p.E81K	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	559					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.E559K(1)		breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)																---	---	---	---
DEGS2	123099	broad.mit.edu	37	14	100613227	100613227	+	Silent	SNP	G	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100613227G>C	uc001ygx.2	-	3	931	c.843C>G	c.(841-843)CCC>CCG	p.P281P		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	degenerative spermatocyte homolog 2, lipid	281					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity				0		Melanoma(154;0.212)																---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25222095	25222095	+	Silent	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25222095A>G	uc001ywp.1	+	10	1229	c.339A>G	c.(337-339)GGA>GGG	p.G113G	SNRPN_uc001ywq.1_Silent_p.G113G|SNRPN_uc001ywr.1_Silent_p.G113G|SNRPN_uc001yws.1_Silent_p.G113G|SNRPN_uc001ywt.1_Silent_p.G113G|SNRPN_uc001ywv.1_Silent_p.G116G|SNRPN_uc001yww.1_Silent_p.G113G|SNRPN_uc001ywx.1_Silent_p.G113G|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	NM_022807	NP_073718	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	113					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
SNORD116-4	100033416	broad.mit.edu	37	15	25351699	25351699	+	Intron	SNP	T	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25351699T>C	uc001yxh.1	+						SNORD116-4_uc001yxm.1_Intron|IPW_uc001yxn.3_Intron|SNORD116-28_uc001yxy.2_Intron|IPW_uc001yyb.3_Intron|uc001yyd.2_Intron|SNORD116-29_uc001yyo.2_RNA					Homo sapiens clone kid4 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.												0																		---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48779622	48779622	+	Missense_Mutation	SNP	C	T	T	rs137854470		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48779622C>T	uc001zwx.1	-	28	3678	c.3350G>A	c.(3349-3351)TGT>TAT	p.C1117Y		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1117	EGF-like 17; calcium-binding.		C -> Y (in MFS).|C -> G (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54624278	54624278	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54624278A>C	uc002ack.2	+	13	4463	c.4463A>C	c.(4462-4464)AAC>ACC	p.N1488T	UNC13C_uc002acl.2_Missense_Mutation_p.N318T	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1488					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)														---	---	---	---
CA12	771	broad.mit.edu	37	15	63618539	63618539	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63618539T>G	uc002amc.2	-	11	1166	c.1010A>C	c.(1009-1011)AAC>ACC	p.N337T	CA12_uc002amd.2_Missense_Mutation_p.N326T|CA12_uc002ame.2_Missense_Mutation_p.N266T	NM_001218	NP_001209	O43570	CAH12_HUMAN	carbonic anhydrase XII isoform 1 precursor	337	Cytoplasmic (Potential).				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			ovary(1)	1					Acetazolamide(DB00819)													---	---	---	---
DPP8	54878	broad.mit.edu	37	15	65780062	65780062	+	Silent	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65780062T>G	uc002aov.2	-	7	2547	c.969A>C	c.(967-969)ACA>ACC	p.T323T	DPP8_uc002aow.2_Silent_p.T323T|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Silent_p.T307T|DPP8_uc002aoy.2_Silent_p.T323T|DPP8_uc002aoz.2_Silent_p.T307T|DPP8_uc010bhj.2_Silent_p.T323T|DPP8_uc002apa.2_Silent_p.T220T|DPP8_uc010bhk.1_Silent_p.T65T	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	323					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1																		---	---	---	---
SIN3A	25942	broad.mit.edu	37	15	75699418	75699418	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75699418G>A	uc002bai.2	-	9	1644	c.1385C>T	c.(1384-1386)ACA>ATA	p.T462I	SIN3A_uc002baj.2_Missense_Mutation_p.T462I|SIN3A_uc010uml.1_Missense_Mutation_p.T462I	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	462	PAH 3.|Interaction with SAP30 (By similarity).|Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5																		---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78474445	78474445	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78474445G>A	uc002bdh.2	-	8	993	c.937C>T	c.(937-939)CGG>TGG	p.R313W	ACSBG1_uc010umw.1_Missense_Mutation_p.R309W|ACSBG1_uc010umx.1_Missense_Mutation_p.R71W|ACSBG1_uc010umy.1_Missense_Mutation_p.R206W	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	313					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1																		---	---	---	---
MEX3B	84206	broad.mit.edu	37	15	82336434	82336434	+	Silent	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:82336434G>A	uc002bgq.1	-	2	1092	c.777C>T	c.(775-777)TCC>TCT	p.S259S		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	259					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2																		---	---	---	---
AXIN1	8312	broad.mit.edu	37	16	347209	347209	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:347209G>A	uc002cgp.1	-	7	1979	c.1802C>T	c.(1801-1803)GCG>GTG	p.A601V	AXIN1_uc002cgq.1_Missense_Mutation_p.A601V	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	601	Interaction with RNF111.|Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)																---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1270680	1270680	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1270680C>T	uc002cks.2	+	35	6996	c.6748C>T	c.(6748-6750)CGC>TGC	p.R2250C	CACNA1H_uc002ckt.2_Missense_Mutation_p.R2244C|CACNA1H_uc002cku.2_Missense_Mutation_p.R945C|CACNA1H_uc010brj.2_Missense_Mutation_p.R961C|CACNA1H_uc002ckv.2_Missense_Mutation_p.R939C	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	2250	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)													---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1621397	1621397	+	Intron	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1621397A>C	uc002cmb.2	-						IFT140_uc002clz.2_Intron	NM_014714	NP_055529			intraflagellar transport 140											ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)																---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24192240	24192240	+	Silent	SNP	C	T	T	rs17847876		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24192240C>T	uc002dmd.2	+	13	1721	c.1524C>T	c.(1522-1524)ATC>ATT	p.I508I	PRKCB_uc002dme.2_Silent_p.I508I	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	508	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)													---	---	---	---
ZKSCAN2	342357	broad.mit.edu	37	16	25268402	25268402	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:25268402T>A	uc002dod.3	-	1	454	c.47A>T	c.(46-48)GAG>GTG	p.E16V	ZKSCAN2_uc010vcl.1_5'UTR|ZKSCAN2_uc002doe.2_Missense_Mutation_p.E16V	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	16					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|breast(1)	4				GBM - Glioblastoma multiforme(48;0.0378)												OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
EIF3CL	728689	broad.mit.edu	37	16	28734635	28734635	+	Silent	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28734635G>A	uc010byj.2	+	10	1019	c.930G>A	c.(928-930)CCG>CCA	p.P310P	uc010vct.1_Intron|EIF3CL_uc010byi.2_Silent_p.P309P|EIF3CL_uc002dqs.3_Silent_p.P309P|EIF3C_uc002dqt.3_Silent_p.P309P|EIF3CL_uc010vcy.1_Silent_p.P299P|EIF3C_uc002dqu.3_Silent_p.P309P|EIF3CL_uc002dqv.3_Silent_p.P55P	NM_001099661	NP_001093131	B5ME19	B5ME19_HUMAN	eukaryotic translation initiation factor 3,	310						eukaryotic translation initiation factor 3 complex	translation initiation factor activity				0																		---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175812	51175812	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:51175812T>G	uc010vgs.1	-	2	352	c.321A>C	c.(319-321)CAA>CAC	p.Q107H	SALL1_uc010vgr.1_Missense_Mutation_p.Q10H|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	107					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)															---	---	---	---
GNAO1	2775	broad.mit.edu	37	16	56368706	56368706	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56368706G>A	uc002eit.3	+	5	1427	c.530G>A	c.(529-531)CGA>CAA	p.R177Q	GNAO1_uc002eiu.3_Missense_Mutation_p.R177Q	NM_138736	NP_620073	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	177	GTP (By similarity).				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)																---	---	---	---
PRSS54	221191	broad.mit.edu	37	16	58318489	58318489	+	Intron	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58318489C>T	uc002enf.2	-						PRSS54_uc002eng.2_Intron|PRSS54_uc010vie.1_Intron	NM_001080492	NP_001073961			plasma kallikrein-like protein 4 precursor						proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61935347	61935347	+	Nonsense_Mutation	SNP	T	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:61935347T>A	uc002eog.1	-	3	535	c.283A>T	c.(283-285)AAA>TAA	p.K95*		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	95	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)														---	---	---	---
ACD	65057	broad.mit.edu	37	16	67691943	67691943	+	Silent	SNP	C	T	T	rs147116458	byFrequency	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67691943C>T	uc002etq.3	-	10	1747	c.1410G>A	c.(1408-1410)CCG>CCA	p.P470P	ACD_uc002etp.3_Silent_p.P467P|ACD_uc002etr.3_Silent_p.P467P|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog isoform 1	470					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			pancreas(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)														---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72828496	72828496	+	Silent	SNP	C	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72828496C>G	uc002fck.2	-	9	8758	c.8085G>C	c.(8083-8085)CGG>CGC	p.R2695R	ZFHX3_uc002fcl.2_Silent_p.R1781R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2695	Homeobox 3.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)																---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77334194	77334194	+	Silent	SNP	G	A	A	rs148705153		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77334194G>A	uc002ffc.3	-	17	3059	c.2640C>T	c.(2638-2640)ATC>ATT	p.I880I	ADAMTS18_uc010chc.1_Silent_p.I468I|ADAMTS18_uc002ffe.1_Silent_p.I576I	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	880					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18																		---	---	---	---
CDH13	1012	broad.mit.edu	37	16	83704577	83704577	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83704577A>T	uc002fgx.2	+	9	1404	c.1284A>T	c.(1282-1284)AAA>AAT	p.K428N	CDH13_uc010vns.1_Missense_Mutation_p.K475N|CDH13_uc010vnt.1_Missense_Mutation_p.K174N|CDH13_uc010vnu.1_Missense_Mutation_p.K389N	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	428	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)														---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	T	T	rs28934578		TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	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)			---	---	---	---
FAM38B	63895	broad.mit.edu	37	18	10677868	10677868	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10677868A>C	uc002kor.3	-	11	1629	c.1489T>G	c.(1489-1491)TTA>GTA	p.L497V	FAM38B_uc002koq.2_Missense_Mutation_p.L332V	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2540						integral to membrane	ion channel activity			ovary(1)	1																		---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25570222	25570222	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:25570222C>A	uc002kwg.2	-	10	1896	c.1437G>T	c.(1435-1437)CAG>CAT	p.Q479H	CDH2_uc010xbn.1_Missense_Mutation_p.Q448H	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	479	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4																		---	---	---	---
PRR22	163154	broad.mit.edu	37	19	5783679	5783679	+	Silent	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5783679C>T	uc002mdb.1	-	1	932	c.573G>A	c.(571-573)CCG>CCA	p.P191P	PRR22_uc010xiv.1_Silent_p.P193P	NM_153359	NP_699190	Q8IZ63	PRR22_HUMAN	proline rich 22 isoform 2	191	Pro-rich.										0																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9057004	9057004	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9057004T>G	uc002mkp.2	-	3	30646	c.30442A>C	c.(30442-30444)ATG>CTG	p.M10148L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	10150	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
OR10H5	284433	broad.mit.edu	37	19	15905218	15905218	+	Silent	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15905218C>T	uc010xos.1	+	1	360	c.360C>T	c.(358-360)TAC>TAT	p.Y120Y		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H,	120	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
SLC5A5	6528	broad.mit.edu	37	19	17985012	17985012	+	Silent	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17985012G>A	uc002nhr.3	+	2	770	c.423G>A	c.(421-423)ACG>ACA	p.T141T		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium iodide	141	Helical; (Potential).				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
KCNN1	3780	broad.mit.edu	37	19	18085064	18085064	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18085064A>G	uc002nht.2	+	3	677	c.367A>G	c.(367-369)ACG>GCG	p.T123A	KCNN1_uc010xqa.1_Missense_Mutation_p.T123A	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	123	Helical; Name=Segment S1; (Potential).				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0																		---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21991015	21991015	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21991015G>T	uc002nqj.2	-	4	1954	c.1824C>A	c.(1822-1824)AAC>AAA	p.N608K	ZNF43_uc010ecv.2_Missense_Mutation_p.N602K|ZNF43_uc002nql.2_Missense_Mutation_p.N602K|ZNF43_uc002nqm.2_Missense_Mutation_p.N602K|ZNF43_uc002nqk.2_Missense_Mutation_p.N538K	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	608	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)														---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31768295	31768295	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31768295A>C	uc002nsy.3	-	2	2469	c.2404T>G	c.(2404-2406)TCC>GCC	p.S802A		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	802					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)																	---	---	---	---
ZNF573	126231	broad.mit.edu	37	19	38231012	38231012	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38231012T>A	uc002ohe.2	-	4	401	c.379A>T	c.(379-381)ATA>TTA	p.I127L	ZNF573_uc010efs.2_Missense_Mutation_p.I40L|ZNF573_uc002ohd.2_Missense_Mutation_p.I125L|ZNF573_uc002ohf.2_Missense_Mutation_p.I69L|ZNF573_uc002ohg.2_Missense_Mutation_p.I39L	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)															---	---	---	---
ATP5SL	55101	broad.mit.edu	37	19	41939565	41939565	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41939565C>G	uc002oqw.1	-	4	316	c.310G>C	c.(310-312)GAG>CAG	p.E104Q	CYP2F1_uc010xvw.1_Intron|ATP5SL_uc002oqu.1_RNA|ATP5SL_uc002oqv.2_Missense_Mutation_p.E110Q|ATP5SL_uc010xwa.1_Missense_Mutation_p.E110Q|ATP5SL_uc002oqx.1_Missense_Mutation_p.E77Q|ATP5SL_uc002oqy.1_Missense_Mutation_p.E104Q|ATP5SL_uc002oqz.1_Missense_Mutation_p.E77Q|ATP5SL_uc002ora.1_Missense_Mutation_p.E91Q|ATP5SL_uc010xwb.1_Missense_Mutation_p.E83Q	NM_018035	NP_060505	Q9NW81	AT5SL_HUMAN	ATP5S-like	104										large_intestine(1)|breast(1)	2																		---	---	---	---
CEACAM19	56971	broad.mit.edu	37	19	45176047	45176047	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45176047A>G	uc002ozo.3	+	2	715	c.235A>G	c.(235-237)ACC>GCC	p.T79A	CEACAM19_uc002ozp.3_Missense_Mutation_p.T79A	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion	79	Extracellular (Potential).					integral to membrane					0	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)																---	---	---	---
TRPM4	54795	broad.mit.edu	37	19	49685913	49685913	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49685913G>A	uc002pmw.2	+	11	1414	c.1342G>A	c.(1342-1344)GGC>AGC	p.G448S	TRPM4_uc010emu.2_Missense_Mutation_p.G448S|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.G274S|TRPM4_uc010emv.2_Missense_Mutation_p.G333S|TRPM4_uc010yal.1_Missense_Mutation_p.G94S|TRPM4_uc002pmy.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	448	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)														---	---	---	---
DKKL1	27120	broad.mit.edu	37	19	49878238	49878238	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49878238C>T	uc002pnk.2	+	5	896	c.682C>T	c.(682-684)CGA>TGA	p.R228*		NM_014419	NP_055234	Q9UK85	DKKL1_HUMAN	dickkopf-like 1 precursor	228					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)														---	---	---	---
ZNF432	9668	broad.mit.edu	37	19	52537952	52537952	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52537952G>C	uc002pyk.2	-	5	1298	c.980C>G	c.(979-981)ACT>AGT	p.T327S		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	327	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)														---	---	---	---
VN1R2	317701	broad.mit.edu	37	19	53762600	53762600	+	Silent	SNP	T	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53762600T>C	uc002qbi.2	+	1	1056	c.972T>C	c.(970-972)TTT>TTC	p.F324F		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	324	Helical; Name=6; (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)														---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56243567	56243567	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56243567C>A	uc002qly.2	-	2	1658	c.1630G>T	c.(1630-1632)GAA>TAA	p.E544*		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	544						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)														---	---	---	---
ZIM2	23619	broad.mit.edu	37	19	57286540	57286540	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57286540A>C	uc002qnr.2	-	11	1482	c.1100T>G	c.(1099-1101)CTC>CGC	p.L367R	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.L163R|ZIM2_uc010ygr.1_Missense_Mutation_p.L163R|ZIM2_uc002qnq.2_Missense_Mutation_p.L367R|ZIM2_uc010etp.2_Missense_Mutation_p.L367R|ZIM2_uc010ygs.1_Missense_Mutation_p.L367R	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	367	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)														---	---	---	---
ZNF773	374928	broad.mit.edu	37	19	58018198	58018198	+	Silent	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58018198G>A	uc002qox.2	+	4	875	c.735G>A	c.(733-735)AGG>AGA	p.R245R	ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Silent_p.R244R|ZNF773_uc002qoz.2_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	zinc finger protein 773	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)														---	---	---	---
ZNF671	79891	broad.mit.edu	37	19	58234616	58234616	+	Silent	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58234616C>T	uc002qpz.3	-	2	330	c.231G>A	c.(229-231)GTG>GTA	p.V77V	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_Intron	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)														---	---	---	---
ZNF671	79891	broad.mit.edu	37	19	58234617	58234617	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58234617A>C	uc002qpz.3	-	2	329	c.230T>G	c.(229-231)GTG>GGG	p.V77G	ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_Intron	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)														---	---	---	---
KIF3B	9371	broad.mit.edu	37	20	30898295	30898295	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30898295G>T	uc002wxq.2	+	2	882	c.715G>T	c.(715-717)GGA>TGA	p.G239*	KIF3B_uc010ztv.1_Nonsense_Mutation_p.G239*|KIF3B_uc010ztw.1_Nonsense_Mutation_p.G239*	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	239	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)															---	---	---	---
RALY	22913	broad.mit.edu	37	20	32664938	32664938	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32664938C>T	uc002xab.2	+	8	1061	c.763C>T	c.(763-765)CCA>TCA	p.P255S	RALY_uc002xac.2_Missense_Mutation_p.P239S|RALY_uc002xad.2_RNA|RALY_uc002xae.1_Missense_Mutation_p.P255S	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	RNA binding protein (autoantigenic,	255						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37198616	37198616	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37198616G>C	uc002xiw.2	+	27	4297	c.4040G>C	c.(4039-4041)TGG>TCG	p.W1347S	RALGAPB_uc002xix.2_Missense_Mutation_p.W1344S|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.W1126S	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1347	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2																		---	---	---	---
TP53TG5	27296	broad.mit.edu	37	20	44003767	44003767	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44003767C>T	uc002xny.2	-	4	761	c.680G>A	c.(679-681)TGC>TAC	p.C227Y	SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	TP53-target gene 5 protein	227					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1																		---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61511707	61511707	+	Silent	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61511707G>A	uc002ydr.1	-	16	5865	c.5601C>T	c.(5599-5601)CCC>CCT	p.P1867P	DIDO1_uc002yds.1_Silent_p.P1867P	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	1867	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)																	---	---	---	---
GAL3ST1	9514	broad.mit.edu	37	22	30951326	30951326	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30951326G>A	uc003aig.1	-	4	1026	c.886C>T	c.(886-888)CGC>TGC	p.R296C	GAL3ST1_uc003aih.1_Missense_Mutation_p.R296C|GAL3ST1_uc003aii.1_Missense_Mutation_p.R296C|GAL3ST1_uc010gvz.1_Missense_Mutation_p.R296C	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	296	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0																		---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37492078	37492078	+	Missense_Mutation	SNP	G	A	A	rs116092750	byFrequency;by1000genomes	TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37492078G>A	uc003aqs.1	-	5	598	c.484C>T	c.(484-486)CGC>TGC	p.R162C	TMPRSS6_uc003aqt.1_Missense_Mutation_p.R153C|TMPRSS6_uc003aqu.2_Missense_Mutation_p.R153C	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	162	Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6																		---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50563995	50563995	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50563995G>A	uc003bjj.2	+	11	1827	c.1744G>A	c.(1744-1746)GCA>ACA	p.A582T	MOV10L1_uc003bjk.3_Missense_Mutation_p.A582T|MOV10L1_uc011arp.1_Missense_Mutation_p.A562T|MOV10L1_uc011arq.1_Missense_Mutation_p.A343T|MOV10L1_uc010hao.1_RNA	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	582					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)														---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29973687	29973687	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:29973687C>T	uc004dby.2	+	11	2349	c.1841C>T	c.(1840-1842)ACG>ATG	p.T614M		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	614	Cytoplasmic (Potential).|Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.T614M(1)		ovary(3)|lung(1)|pancreas(1)	5																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	47658157	47658157	+	IGR	SNP	G	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47658157G>T								LOC100133957 (138381 upstream) : ZNF81 (38144 downstream)																																			---	---	---	---
AR	367	broad.mit.edu	37	X	66931262	66931262	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:66931262T>G	uc004dwu.1	+	4	3019	c.1904T>G	c.(1903-1905)CTT>CGT	p.L635R	AR_uc004dwv.1_Missense_Mutation_p.L103R	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	634	Interaction with HIPK3 (By similarity).|Interaction with MYST2.			L -> P (in Ref. 18; AAB21256/AAB21257).	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)									Androgen_Insensitivity_Syndrome				---	---	---	---
MUM1L1	139221	broad.mit.edu	37	X	105450129	105450129	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4472-01	TCGA-CG-4472-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105450129A>T	uc004emf.1	+	4	1353	c.704A>T	c.(703-705)AAG>ATG	p.K235M	MUM1L1_uc004emg.1_Missense_Mutation_p.K235M	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	235										ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
