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
TARDBP	23435	broad.mit.edu	37	1	11077260	11077260	+	Intron	DEL	T	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11077260delT	uc001art.2	+						TARDBP_uc010oap.1_Intron	NM_007375	NP_031401			TAR DNA binding protein						3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)														---	---	---	---
C1orf177	163747	broad.mit.edu	37	1	55279346	55279352	+	Intron	DEL	CCGGCCT	-	-	rs67384270		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55279346_55279352delCCGGCCT	uc001cyb.3	+						C1orf177_uc001cya.3_Intron	NM_001110533	NP_001104003			hypothetical protein LOC163747 isoform 2												0																		---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113639163	113639164	+	Intron	INS	-	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113639163_113639164insA	uc001edf.1	+						LRIG2_uc009wgn.1_Intron	NM_014813	NP_055628			leucine-rich repeats and immunoglobulin-like							cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	143391935	143391936	+	IGR	INS	-	TG	TG			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:143391935_143391936insTG								None (None upstream) : LOC100286793 (255703 downstream)																																			---	---	---	---
FAM63A	55793	broad.mit.edu	37	1	150972560	150972560	+	Intron	DEL	T	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150972560delT	uc001ewf.2	-						FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_Intron|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Intron|FAM63A_uc001ewg.2_Intron	NM_018379	NP_001156731			hypothetical protein LOC55793 isoform 1								protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)															---	---	---	---
DPT	1805	broad.mit.edu	37	1	168694453	168694454	+	Intron	INS	-	TTCCTTTCCT	TTCCTTTCCT	rs7365537	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168694453_168694454insTTCCTTTCCT	uc001gfp.2	-							NM_001937	NP_001928			dermatopontin precursor						cell adhesion	extracellular space|proteinaceous extracellular matrix				ovary(1)	1	all_hematologic(923;0.208)																	---	---	---	---
BAT2L2	23215	broad.mit.edu	37	1	171452363	171452363	+	5'Flank	DEL	A	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171452363delA	uc010pmg.1	+						BAT2L2_uc001ghq.1_5'Flank|BAT2L2_uc001ghr.1_5'Flank	NM_015172	NP_055987			HBxAg transactivated protein 2								protein C-terminus binding				0																		---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176681126	176681126	+	Intron	DEL	C	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176681126delC	uc001gkz.2	+						PAPPA2_uc009www.2_Intron	NM_020318	NP_064714			pappalysin 2 isoform 1						cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185992421	185992421	+	Intron	DEL	T	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185992421delT	uc001grq.1	+							NM_031935	NP_114141			hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214626918	214626919	+	Intron	INS	-	GGCACATGG	GGCACATGG	rs146570036	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214626918_214626919insGGCACATGG	uc001hkk.1	-						PTPN14_uc010pty.1_Intron	NM_005401	NP_005392			protein tyrosine phosphatase, non-receptor type						lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)														---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24949704	24949704	+	Intron	DEL	A	-	-	rs71960773		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24949704delA	uc002rfk.2	+						NCOA1_uc010eye.2_Intron|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Intron|NCOA1_uc002rfl.2_Intron	NM_003743	NP_003734			nuclear receptor coactivator 1 isoform 1										PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---
SRBD1	55133	broad.mit.edu	37	2	45645816	45645816	+	Intron	DEL	A	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:45645816delA	uc002rus.2	-						SRBD1_uc010yoc.1_Intron	NM_018079	NP_060549			S1 RNA binding domain 1						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)															---	---	---	---
Unknown	0	broad.mit.edu	37	2	47617363	47617364	+	IGR	INS	-	CTTC	CTTC	rs139588955	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:47617363_47617364insCTTC								EPCAM (3198 upstream) : MSH2 (12842 downstream)																																			---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125668987	125668999	+	Intron	DEL	GCTTCTTGCCAGT	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125668987_125668999delGCTTCTTGCCAGT	uc002tno.2	+						CNTNAP5_uc010flu.2_Intron	NM_130773	NP_570129			contactin associated protein-like 5 precursor						cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---
NRP2	8828	broad.mit.edu	37	2	206631634	206631635	+	Intron	DEL	CG	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206631634_206631635delCG	uc002vaw.2	+						NRP2_uc002vau.2_Intron|NRP2_uc002vav.2_Intron|NRP2_uc002vax.2_Intron|NRP2_uc002vay.2_Intron	NM_201266	NP_957718			neuropilin 2 isoform 1 precursor						angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4																OREG0015156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PAX3	5077	broad.mit.edu	37	2	223158157	223158157	+	Intron	DEL	T	-	-	rs45466693		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223158157delT	uc010fwo.2	-						PAX3_uc002vmt.1_Intron|PAX3_uc002vmy.1_Intron|PAX3_uc002vmv.1_Intron|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron	NM_181457	NP_852122			paired box 3 isoform PAX3						apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)				T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						---	---	---	---
WDR69	164781	broad.mit.edu	37	2	228788462	228788462	+	Intron	DEL	A	-	-	rs78456977		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228788462delA	uc002vpn.1	+						WDR69_uc010zlw.1_Intron|WDR69_uc002vpo.1_Intron	NM_178821	NP_849143			WD repeat domain 69											breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)														---	---	---	---
CCDC36	339834	broad.mit.edu	37	3	49278972	49278973	+	Intron	DEL	AC	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49278972_49278973delAC	uc003cwk.2	+						CCDC36_uc003cwl.3_Intron|CCDC36_uc011bck.1_Intron	NM_178173	NP_835467			coiled-coil domain containing 36											ovary(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)														---	---	---	---
Unknown	0	broad.mit.edu	37	3	142895155	142895155	+	IGR	DEL	C	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142895155delC								CHST2 (53345 upstream) : SLC9A9 (88910 downstream)																																			---	---	---	---
GMPS	8833	broad.mit.edu	37	3	155628358	155628358	+	Intron	DEL	A	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155628358delA	uc003faq.2	+						GMPS_uc011bom.1_Intron	NM_003875	NP_003866			guanine monophosphate synthetase						glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)			T	MLL	AML								---	---	---	---
Unknown	0	broad.mit.edu	37	3	156978684	156978688	+	IGR	DEL	TTTTA	-	-	rs71740874		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156978684_156978688delTTTTA								CCNL1 (100202 upstream) : VEPH1 (10 downstream)																																			---	---	---	---
ADIPOQ	9370	broad.mit.edu	37	3	186565976	186565977	+	Intron	INS	-	AAG	AAG	rs150789289	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186565976_186565977insAAG	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)														---	---	---	---
Unknown	0	broad.mit.edu	37	4	27162862	27162863	+	IGR	INS	-	T	T	rs143128646	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:27162862_27162863insT								STIM2 (137054 upstream) : None (None downstream)																																			---	---	---	---
FABP2	2169	broad.mit.edu	37	4	120243417	120243418	+	5'Flank	INS	-	TC	TC	rs144572173	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:120243417_120243418insTC	uc003icw.2	-							NM_000134	NP_000125			intestinal fatty acid binding protein 2								fatty acid binding			ovary(1)	1																		---	---	---	---
ARFIP1	27236	broad.mit.edu	37	4	153802003	153802008	+	Intron	DEL	AGTTTG	-	-	rs73865262	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:153802003_153802008delAGTTTG	uc003imz.2	+						ARFIP1_uc003inb.2_Intron|ARFIP1_uc003ina.2_Intron|ARFIP1_uc003inc.2_Intron|ARFIP1_uc011cij.1_Intron	NM_001025595	NP_001020766			ADP-ribosylation factor interacting protein 1						intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane				ovary(1)	1	all_hematologic(180;0.093)																	---	---	---	---
Unknown	0	broad.mit.edu	37	5	1649912	1649913	+	IGR	DEL	TC	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1649912_1649913delTC								LOC728613 (15792 upstream) : MRPL36 (148587 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	5	77965309	77965312	+	IGR	DEL	GAGA	-	-	rs57667593		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:77965309_77965312delGAGA								LHFPL2 (20661 upstream) : ARSB (107727 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	6	32210328	32210331	+	IGR	DEL	TTCT	-	-	rs71811489		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32210328_32210331delTTCT								NOTCH4 (18484 upstream) : C6orf10 (45972 downstream)																																			---	---	---	---
RPS10	6204	broad.mit.edu	37	6	34389797	34389797	+	Intron	DEL	A	-	-	rs34411335		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34389797delA	uc003ojm.2	-						RPS10_uc003ojn.2_Intron	NM_001014	NP_001005			ribosomal protein S10						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	6	42521030	42521033	+	IGR	DEL	GAAG	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42521030_42521033delGAAG								TRERF1 (101165 upstream) : UBR2 (11025 downstream)																																			---	---	---	---
BACH2	60468	broad.mit.edu	37	6	90647682	90647683	+	Intron	DEL	AC	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90647682_90647683delAC	uc011eab.1	-						BACH2_uc003pnw.2_Intron	NM_021813	NP_068585			BTB and CNC homology 1, basic leucine zipper							nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)														---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131206403	131206410	+	Splice_Site	DEL	TCGGAGCT	-	-	rs76682195	byFrequency;by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131206403_131206410delTCGGAGCT	uc003qch.2	-	12	1843	c.1661_splice	c.e12-1	p.A554_splice	EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc003qcg.1_Splice_Site_p.A554_splice|EPB41L2_uc011eby.1_Splice_Site_p.A554_splice|EPB41L2_uc003qci.2_Splice_Site_p.A554_splice|EPB41L2_uc010kfk.2_Splice_Site_p.A554_splice|EPB41L2_uc010kfl.1_Splice_Site_p.A554_splice	NM_001431	NP_001422			erythrocyte membrane protein band 4.1-like 2						cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)												OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SNX8	29886	broad.mit.edu	37	7	2309284	2309285	+	Intron	INS	-	AA	AA			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2309284_2309285insAA	uc003slw.2	-							NM_013321	NP_037453			sorting nexin 8						cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)														---	---	---	---
SUN3	256979	broad.mit.edu	37	7	48045447	48045448	+	Intron	INS	-	C	C	rs142156983	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48045447_48045448insC	uc003tof.2	-						SUN3_uc010kyq.2_Intron|SUN3_uc003tog.2_Intron|SUN3_uc011kcf.1_Intron	NM_152782	NP_689995			Sad1 and UNC84 domain containing 1							integral to membrane				central_nervous_system(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	67839408	67839409	+	IGR	INS	-	TT	TT	rs57872519		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:67839408_67839409insTT								None (None upstream) : None (None downstream)																																			---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	70786869	70786870	+	Intron	INS	-	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:70786869_70786870insT	uc003tvy.2	+						WBSCR17_uc003tvz.2_Intron	NM_022479	NP_071924			UDP-GalNAc:polypeptide							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)																---	---	---	---
CDK14	5218	broad.mit.edu	37	7	90278655	90278656	+	Intron	INS	-	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90278655_90278656insT	uc003uky.2	+						CDK14_uc003ukt.1_Intron|CDK14_uc003ukv.1_Intron|CDK14_uc003uku.1_Intron|CDK14_uc003ukx.1_Intron	NM_012395	NP_036527			PFTAIRE protein kinase 1						cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4																		---	---	---	---
RELN	5649	broad.mit.edu	37	7	103216089	103216109	+	In_Frame_Del	DEL	TAAACCAAATGGAGGCACGTT	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103216089_103216109delTAAACCAAATGGAGGCACGTT	uc003vca.2	-	29	4349_4369	c.4189_4209delAACGTGCCTCCATTTGGTTTA	c.(4189-4209)AACGTGCCTCCATTTGGTTTAdel	p.NVPPFGL1397del	RELN_uc010liz.2_In_Frame_Del_p.NVPPFGL1397del	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1397_1403					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
CHMP7	91782	broad.mit.edu	37	8	23114303	23114303	+	Intron	DEL	T	-	-	rs72333964		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23114303delT	uc003xdc.2	+						CHMP7_uc011kzs.1_Intron|CHMP7_uc003xdd.2_Intron|CHMP7_uc003xde.2_Intron	NM_152272	NP_689485			CHMP family, member 7						cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)														---	---	---	---
Unknown	0	broad.mit.edu	37	8	55435290	55435315	+	IGR	DEL	CCAGTAACAAAAAATGTGGCATCTTC	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55435290_55435315delCCAGTAACAAAAAATGTGGCATCTTC								SOX17 (61835 upstream) : RP1 (93312 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	8	64260526	64260529	+	IGR	DEL	CTTC	-	-	rs71817864		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:64260526_64260529delCTTC								YTHDF3 (135181 upstream) : None (None downstream)																																			---	---	---	---
PDE7A	5150	broad.mit.edu	37	8	66639406	66639415	+	Frame_Shift_Del	DEL	TTGTATAAAG	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66639406_66639415delTTGTATAAAG	uc003xvq.2	-	8	830_839	c.818_827delCTTTATACAA	c.(817-828)ACTTTATACAAGfs	p.T273fs	PDE7A_uc003xvr.2_Frame_Shift_Del_p.T273fs|PDE7A_uc003xvp.2_Frame_Shift_Del_p.T247fs	NM_002604	NP_002595	Q13946	PDE7A_HUMAN	phosphodiesterase 7A isoform b	273_276	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding				0			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)													---	---	---	---
MED30	90390	broad.mit.edu	37	8	118535435	118535435	+	Intron	DEL	T	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:118535435delT	uc003yoj.2	+						MED30_uc011lib.1_Intron	NM_080651	NP_542382			TRAP/Mediator complex component TRAP25						androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding				0	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)															---	---	---	---
RCL1	10171	broad.mit.edu	37	9	4803727	4803727	+	Intron	DEL	A	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:4803727delA	uc003zis.2	+						RCL1_uc003zit.2_Intron|RCL1_uc010mhk.1_Intron	NM_005772	NP_005763			RNA terminal phosphate cyclase-like 1						ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity				0	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)														---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114170786	114170786	+	Intron	DEL	A	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114170786delA	uc004bfe.1	-							NM_001080398	NP_001073867			KIAA0368 protein												0																		---	---	---	---
UNC5B	219699	broad.mit.edu	37	10	72994927	72994927	+	Intron	DEL	T	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72994927delT	uc001jro.2	+						UNC5B_uc001jrp.2_Intron	NM_170744	NP_734465			unc-5 homolog B precursor						apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3																		---	---	---	---
LIPF	8513	broad.mit.edu	37	10	90427474	90427475	+	Intron	DEL	TC	-	-	rs141150609	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90427474_90427475delTC	uc001kfg.1	+						LIPF_uc009xtk.2_Intron|LIPF_uc001kfh.1_Intron|LIPF_uc010qmt.1_Intron|LIPF_uc010qmu.1_Intron	NM_004190	NP_004181			lipase, gastric precursor						lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity				0		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)														---	---	---	---
Unknown	0	broad.mit.edu	37	10	125014571	125014571	+	IGR	DEL	T	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:125014571delT								BUB3 (89685 upstream) : GPR26 (411300 downstream)																																			---	---	---	---
TNNT3	7140	broad.mit.edu	37	11	1944246	1944249	+	Intron	DEL	TCTT	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1944246_1944249delTCTT	uc001luu.3	+						TNNT3_uc001lun.2_Intron|TNNT3_uc001luw.3_Intron|TNNT3_uc001luo.3_Intron|TNNT3_uc001lup.3_Intron|TNNT3_uc001luq.3_Intron|TNNT3_uc001lur.2_Intron|TNNT3_uc010qxf.1_Intron|TNNT3_uc010qxg.1_Intron|TNNT3_uc001lut.1_Intron|TNNT3_uc001lus.1_Intron	NM_006757	NP_006748			troponin T3, skeletal, fast isoform 1						muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			ovary(1)	1		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)														---	---	---	---
SYT10	341359	broad.mit.edu	37	12	33579428	33579431	+	Splice_Site	DEL	TATC	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:33579428_33579431delTATC	uc001rll.1	-	2	449	c.152_splice	c.e2-1	p.D51_splice	SYT10_uc009zju.1_Splice_Site	NM_198992	NP_945343			synaptotagmin X							cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)																	---	---	---	---
POU6F1	5463	broad.mit.edu	37	12	51585884	51585891	+	Intron	DEL	CTCGGCCT	-	-	rs11276817		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51585884_51585891delCTCGGCCT	uc001rxy.2	-						POU6F1_uc001rxz.2_Intron|POU6F1_uc001rya.2_Intron	NM_002702	NP_002693			POU class 6 homeobox 1						brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53012327	53012337	+	5'UTR	DEL	TGGGGATAAGA	-	-	rs140417201	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53012327_53012337delTGGGGATAAGA	uc001sas.2	-	1						NM_175068	NP_778238			keratin 73							keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
SSH1	54434	broad.mit.edu	37	12	109201211	109201211	+	Intron	DEL	C	-	-	rs114884177		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109201211delC	uc001tnm.2	-						SSH1_uc001tnl.2_5'Flank|SSH1_uc010sxg.1_Intron|SSH1_uc001tnn.3_Intron	NM_018984	NP_061857			slingshot 1 isoform 1						actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	14	21302532	21302532	+	IGR	DEL	G	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21302532delG								RNASE1 (31496 upstream) : RNASE3 (57030 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	14	34669613	34669616	+	IGR	DEL	GAAG	-	-	rs71451998		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:34669613_34669616delGAAG								EGLN3 (249326 upstream) : C14orf147 (232529 downstream)																																			---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75278187	75278187	+	Intron	DEL	A	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75278187delA	uc001xqj.3	+						YLPM1_uc001xql.3_Intron|YLPM1_uc001xqm.1_Intron	NM_019589	NP_062535			YLP motif containing 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)														---	---	---	---
NRXN3	9369	broad.mit.edu	37	14	78781335	78781338	+	Intron	DEL	TCTT	-	-	rs10551573		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:78781335_78781338delTCTT	uc001xum.1	+											Homo sapiens mRNA for KIAA0743 protein, partial cds.						axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)														---	---	---	---
ZNF597	146434	broad.mit.edu	37	16	3490633	3490634	+	Intron	INS	-	A	A	rs79841297		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3490633_3490634insA	uc002cvd.2	-							NM_152457	NP_689670			zinc finger protein 597						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29910430	29910431	+	5'UTR	DEL	TG	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29910430_29910431delTG	uc002duq.3	-	1					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_5'UTR|SEZ6L2_uc002dur.3_5'UTR|SEZ6L2_uc002dus.3_5'UTR|SEZ6L2_uc010vec.1_5'UTR|SEZ6L2_uc010ved.1_5'UTR|ASPHD1_uc002dut.2_5'Flank|ASPHD1_uc002duu.3_5'Flank|ASPHD1_uc010bzi.2_5'Flank	NM_201575	NP_963869			seizure related 6 homolog (mouse)-like 2 isoform							endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	60892427	60892427	+	IGR	DEL	A	-	-	rs5817267		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:60892427delA								None (None upstream) : CDH8 (794808 downstream)																																			---	---	---	---
CALB2	794	broad.mit.edu	37	16	71415920	71415922	+	Intron	DEL	GAG	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71415920_71415922delGAG	uc002faa.3	+						CALB2_uc010vme.1_Intron|CALB2_uc002fac.3_Intron	NM_001740	NP_001731			calbindin 2 isoform 1								calcium ion binding				0		Ovarian(137;0.125)																---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81973807	81973808	+	Intron	INS	-	TGCA	TGCA	rs141767011	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81973807_81973808insTGCA	uc002fgt.2	+							NM_002661	NP_002652			phospholipase C, gamma 2						intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8																		---	---	---	---
VPS53	55275	broad.mit.edu	37	17	456815	456816	+	Intron	DEL	TT	-	-	rs67366491		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:456815_456816delTT	uc002frn.2	-						VPS53_uc002frk.2_Intron|VPS53_uc010cjo.1_Intron|VPS53_uc002frl.2_Intron|VPS53_uc002frm.2_Intron|VPS53_uc002fro.2_Intron|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759			vacuolar protein sorting 53 isoform 2						protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)														---	---	---	---
ALDH3A2	224	broad.mit.edu	37	17	19576700	19576700	+	Intron	DEL	T	-	-	rs66737570		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19576700delT	uc002gwb.1	+						ALDH3A2_uc002gwa.1_Intron|ALDH3A2_uc010cqr.1_Intron|ALDH3A2_uc002gwc.1_Intron|ALDH3A2_uc002gwd.1_Intron	NM_000382	NP_000373			aldehyde dehydrogenase 3A2 isoform 2						cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(2)	2	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)													---	---	---	---
SLC47A2	146802	broad.mit.edu	37	17	19611062	19611062	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19611062delC	uc002gwe.3	-	8	1007	c.832delG	c.(832-834)GCAfs	p.A278fs	SLC47A2_uc002gwg.3_Frame_Shift_Del_p.A242fs|SLC47A2_uc002gwf.3_Frame_Shift_Del_p.A242fs|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	278	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)																	---	---	---	---
KRT24	192666	broad.mit.edu	37	17	38855128	38855128	+	Intron	DEL	T	-	-	rs66490032		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38855128delT	uc002hvd.2	-							NM_019016	NP_061889			keratin 24							cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.00526)																---	---	---	---
TMEM104	54868	broad.mit.edu	37	17	72786909	72786910	+	Intron	INS	-	T	T	rs35287780		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72786909_72786910insT	uc002jls.3	+						TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Intron	NM_017728	NP_060198			transmembrane protein 104							integral to membrane					0	all_lung(278;0.23)																	---	---	---	---
ANKRD30B	374860	broad.mit.edu	37	18	14779833	14779834	+	Intron	INS	-	CCA	CCA			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:14779833_14779834insCCA	uc010dlo.2	+						ANKRD30B_uc010xak.1_Intron	NM_001145029	NP_001138501			ankyrin repeat domain 30B											ovary(1)|skin(1)	2																		---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43212094	43212097	+	Intron	DEL	GTGT	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43212094_43212097delGTGT	uc010dnj.2	+						SLC14A2_uc002lbb.2_Intron|SLC14A2_uc002lbe.2_Intron	NM_007163	NP_009094			solute carrier family 14 (urea transporter),							apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
Unknown	0	broad.mit.edu	37	18	54964998	54964999	+	IGR	DEL	AC	-	-	rs147928791		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:54964998_54964999delAC								WDR7 (267962 upstream) : ST8SIA3 (54722 downstream)																																			---	---	---	---
ZNF562	54811	broad.mit.edu	37	19	9764668	9764669	+	Intron	INS	-	TT	TT	rs145922849		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9764668_9764669insTT	uc010xks.1	-						ZNF562_uc002mly.2_Intron|ZNF562_uc002mlx.2_Intron|ZNF562_uc010xkt.1_Intron|ZNF562_uc010xku.1_Intron|ZNF562_uc010xkv.1_Intron|ZNF562_uc010xkw.1_Intron	NM_001130032	NP_001123504			zinc finger protein 562 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17317604	17317604	+	Intron	DEL	C	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17317604delC	uc010eak.2	+						MYO9B_uc002nfi.2_Intron|MYO9B_uc002nfj.1_Intron|MYO9B_uc002nfl.1_Frame_Shift_Del_p.L213fs|MYO9B_uc002nfm.1_Intron	NM_004145	NP_004136			myosin IXB isoform 1						actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1																		---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2633378	2633379	+	Intron	INS	-	GAGCCTGGGCCT	GAGCCTGGGCCT	rs149713688	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2633378_2633379insGAGCCTGGGCCT	uc002wgh.2	+						NOP56_uc010zpy.1_Intron|MIR1292_hsa-mir-1292|MI0006433_5'Flank|NOP56_uc002wgi.2_5'Flank|SNORD110_uc002wgj.2_5'Flank|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank	NM_006392	NP_006383			nucleolar protein 5A						rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50225461	50225462	+	Intron	INS	-	GTGT	GTGT	rs147457892	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50225461_50225462insGTGT	uc002xwg.1	-						ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036			ATPase, class II, type 9A						ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4																		---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46877139	46877140	+	Intron	INS	-	A	A	rs112875441		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46877139_46877140insA	uc003bhw.1	-							NM_014246	NP_055061			cadherin EGF LAG seven-pass G-type receptor 1						central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---
FAM19A5	25817	broad.mit.edu	37	22	49103825	49103837	+	Intron	DEL	TCCTGACCATCTG	-	-	rs141710021		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:49103825_49103837delTCCTGACCATCTG	uc003bim.3	+						FAM19A5_uc003bio.3_Intron	NM_001082967	NP_001076436			family with sequence similarity 19 (chemokine							extracellular region|integral to membrane				large_intestine(1)	1		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)														---	---	---	---
Unknown	0	broad.mit.edu	37	X	92643879	92643879	+	IGR	DEL	T	-	-			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:92643879delT								PCDH11X (765653 upstream) : NAP1L3 (282050 downstream)																																			---	---	---	---
MUL1	79594	broad.mit.edu	37	1	20827854	20827854	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20827854G>C	uc001bdi.3	-	4	545	c.388C>G	c.(388-390)CCC>GCC	p.P130A		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	130	Mitochondrial intermembrane (Potential).				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)														---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52891085	52891085	+	Silent	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52891085C>T	uc001ctx.2	-	29	5037	c.4803G>A	c.(4801-4803)TTG>TTA	p.L1601L	ZCCHC11_uc001cty.2_Silent_p.L1602L|ZCCHC11_uc001ctz.2_Silent_p.L1597L	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1601					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152080902	152080902	+	Silent	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152080902G>A	uc001ezp.2	-	2	4791	c.4791C>T	c.(4789-4791)TTC>TTT	p.F1597F	TCHH_uc009wne.1_Silent_p.F1597F	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1597	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
OR6K6	128371	broad.mit.edu	37	1	158725605	158725605	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158725605T>A	uc001fsw.1	+	1	1000	c.1000T>A	c.(1000-1002)TAT>AAT	p.Y334N		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	334	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)																	---	---	---	---
C1orf49	84066	broad.mit.edu	37	1	178485744	178485744	+	Intron	SNP	T	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:178485744T>A	uc001glt.1	+						C1orf49_uc001glu.1_Intron|C1orf49_uc001glv.1_RNA|C1orf49_uc001glw.1_Intron	NM_032126	NP_115502			hypothetical protein LOC84066							microtubule cytoskeleton					0																		---	---	---	---
TOR1AIP1	26092	broad.mit.edu	37	1	179852066	179852066	+	Silent	SNP	T	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179852066T>A	uc001gnq.2	+	1	647	c.429T>A	c.(427-429)TCT>TCA	p.S143S	TOR1AIP1_uc001gnp.1_Silent_p.S143S	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	lamina-associated polypeptide 1B	143	Nuclear (Potential).					integral to membrane|nuclear inner membrane				breast(1)|central_nervous_system(1)	2																		---	---	---	---
DENND1B	163486	broad.mit.edu	37	1	197627492	197627492	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197627492G>A	uc001guf.3	-	6	642	c.304C>T	c.(304-306)CCC>TCC	p.P102S	DENND1B_uc010ppe.1_Missense_Mutation_p.P102S|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Missense_Mutation_p.P92S|DENND1B_uc001gug.3_5'UTR	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	102	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0																		---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204424993	204424993	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204424993C>G	uc001haw.2	-	12	2413	c.1934G>C	c.(1933-1935)TGG>TCG	p.W645S	PIK3C2B_uc010pqv.1_Missense_Mutation_p.W645S|PIK3C2B_uc001hax.1_Missense_Mutation_p.W645S|PIK3C2B_uc009xbd.1_RNA	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	645					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)															---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228529881	228529881	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228529881G>T	uc009xez.1	+	75	18140	c.18096G>T	c.(18094-18096)AAG>AAT	p.K6032N	OBSCN_uc001hsn.2_Missense_Mutation_p.K6032N|OBSCN_uc001hsr.1_Missense_Mutation_p.K661N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6032	Ig-like 52.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229601204	229601204	+	Silent	SNP	T	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229601204T>C	uc001htn.2	-	17	2354	c.2262A>G	c.(2260-2262)GAA>GAG	p.E754E		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	754					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---
NID1	4811	broad.mit.edu	37	1	236208770	236208770	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236208770C>T	uc001hxo.2	-	3	841	c.739G>A	c.(739-741)GAA>AAA	p.E247K	NID1_uc009xgd.2_Missense_Mutation_p.E247K	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	247	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)													---	---	---	---
USP39	10713	broad.mit.edu	37	2	85875937	85875937	+	3'UTR	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85875937G>A	uc002sqe.2	+	13					USP39_uc002sqb.2_3'UTR|USP39_uc010ysu.1_3'UTR|USP39_uc010ysv.1_3'UTR|USP39_uc002sqf.2_3'UTR|USP39_uc002sqg.2_3'UTR|USP39_uc010fgo.2_3'UTR	NM_006590	NP_006581			ubiquitin specific protease 39						spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1																OREG0014749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
THNSL2	55258	broad.mit.edu	37	2	88474331	88474331	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88474331A>G	uc002ssz.3	+	3	550	c.397A>G	c.(397-399)AAG>GAG	p.K133E	THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Missense_Mutation_p.K133E|THNSL2_uc002ssx.3_Missense_Mutation_p.K101E|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.K133E|THNSL2_uc010fhe.2_5'UTR	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2	133					threonine biosynthetic process		threonine synthase activity			ovary(1)	1																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109381382	109381382	+	Missense_Mutation	SNP	G	A	A	rs138483682		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109381382G>A	uc002tem.3	+	20	4513	c.4387G>A	c.(4387-4389)GAT>AAT	p.D1463N		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1463					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109522783	109522783	+	Silent	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109522783G>A	uc002teq.3	-	11	1436	c.1005C>T	c.(1003-1005)AAC>AAT	p.N335N	EDAR_uc010fjn.2_Silent_p.N367N|EDAR_uc010yws.1_Silent_p.N367N	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	335	Cytoplasmic (Potential).				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1																		---	---	---	---
DIS3L2	129563	broad.mit.edu	37	2	233103275	233103275	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233103275G>A	uc010fxz.2	+	11	1513	c.1237G>A	c.(1237-1239)GTG>ATG	p.V413M	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	413							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)														---	---	---	---
ALPP	250	broad.mit.edu	37	2	233244575	233244575	+	Missense_Mutation	SNP	G	A	A	rs148017705	byFrequency	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233244575G>A	uc002vsq.2	+	5	751	c.586G>A	c.(586-588)GTG>ATG	p.V196M	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	196						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)														---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	240033331	240033331	+	Silent	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240033331G>A	uc002vyk.3	-	14	2646	c.1854C>T	c.(1852-1854)CCC>CCT	p.P618P	HDAC4_uc010fyz.1_Silent_p.P613P|HDAC4_uc010zoa.1_Silent_p.P618P|HDAC4_uc010fza.2_Silent_p.P623P|HDAC4_uc010fyy.2_Silent_p.P575P|HDAC4_uc010znz.1_Silent_p.P501P	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	618					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)														---	---	---	---
SLC6A11	6538	broad.mit.edu	37	3	10976881	10976881	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10976881C>T	uc003bvz.2	+	13	1776	c.1742C>T	c.(1741-1743)CCC>CTC	p.P581L		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	581	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)														---	---	---	---
HHATL	57467	broad.mit.edu	37	3	42738538	42738538	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42738538G>T	uc003clw.2	-	9	1112	c.965C>A	c.(964-966)CCC>CAC	p.P322H	HHATL_uc003clx.2_Missense_Mutation_p.P322H	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	322					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)														---	---	---	---
SCAP	22937	broad.mit.edu	37	3	47462450	47462450	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47462450C>G	uc003crh.1	-	11	1570	c.1315G>C	c.(1315-1317)GTC>CTC	p.V439L	SCAP_uc011baz.1_Missense_Mutation_p.V184L|SCAP_uc003crg.2_Missense_Mutation_p.V47L	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	439	SSD.|Helical; Name=6; (Potential).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)												OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121416746	121416746	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121416746T>G	uc003eei.3	-	13	2735	c.2609A>C	c.(2608-2610)CAG>CCG	p.Q870P	GOLGB1_uc010hrc.2_Missense_Mutation_p.Q875P|GOLGB1_uc003eej.3_Missense_Mutation_p.Q836P|GOLGB1_uc011bjm.1_Missense_Mutation_p.Q756P|GOLGB1_uc010hrd.1_Missense_Mutation_p.Q834P	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	870	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---
PLOD2	5352	broad.mit.edu	37	3	145838987	145838987	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:145838987T>A	uc003evs.1	-	3	756	c.250A>T	c.(250-252)ATT>TTT	p.I84F	PLOD2_uc011bnm.1_Missense_Mutation_p.I29F|PLOD2_uc003evr.1_Missense_Mutation_p.I84F	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	84					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)													---	---	---	---
C3orf55	152078	broad.mit.edu	37	3	157271104	157271104	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157271104G>T	uc003fbp.3	+	2	226	c.58G>T	c.(58-60)GGA>TGA	p.G20*	C3orf55_uc011bos.1_RNA|C3orf55_uc003fbo.2_Nonsense_Mutation_p.G20*|C3orf55_uc011bot.1_RNA|C3orf55_uc010hvv.2_Nonsense_Mutation_p.G20*	NM_001130002	NP_001123474	A1A4F0	CC055_HUMAN	hypothetical protein LOC152078 isoform 1	20											0			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)															---	---	---	---
HRG	3273	broad.mit.edu	37	3	186395370	186395370	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186395370C>T	uc003fqq.2	+	7	1299	c.1276C>T	c.(1276-1278)CAC>TAC	p.H426Y		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	426	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)														---	---	---	---
TP63	8626	broad.mit.edu	37	3	189584511	189584511	+	Silent	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:189584511G>A	uc003fry.2	+	6	896	c.807G>A	c.(805-807)GGG>GGA	p.G269G	TP63_uc003frx.2_Silent_p.G269G|TP63_uc003frz.2_Silent_p.G269G|TP63_uc010hzc.1_Silent_p.G269G|TP63_uc003fsa.2_Silent_p.G175G|TP63_uc003fsb.2_Silent_p.G175G|TP63_uc003fsc.2_Silent_p.G175G|TP63_uc003fsd.2_Silent_p.G175G|TP63_uc010hzd.1_Silent_p.G90G|TP63_uc003fse.1_Silent_p.G150G	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	tumor protein p63 isoform 1	269					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G269V(1)		skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)										Hay-Wells_syndrome	HNSCC(45;0.13)			---	---	---	---
GPR78	27201	broad.mit.edu	37	4	8583111	8583111	+	Silent	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8583111G>A	uc003glk.2	+	1	821	c.402G>A	c.(400-402)TCG>TCA	p.S134S	CPZ_uc003gll.2_RNA	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	134	Helical; Name=4; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6																		---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47559779	47559779	+	Silent	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47559779G>A	uc003gxk.1	+	12	2087	c.1923G>A	c.(1921-1923)TCG>TCA	p.S641S	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	641	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3																		---	---	---	---
ADH1B	125	broad.mit.edu	37	4	100237113	100237113	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100237113A>C	uc003hus.3	-	5	593	c.509T>G	c.(508-510)GTC>GGC	p.V170G	ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.V130G|ADH1B_uc011ceh.1_Missense_Mutation_p.V15G|ADH1B_uc011cei.1_Missense_Mutation_p.V130G	NM_000668	NP_000659	P00325	ADH1B_HUMAN	class I alcohol dehydrogenase, beta subunit	170					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			ovary(1)|breast(1)	2				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)													---	---	---	---
NDUFS6	4726	broad.mit.edu	37	5	1815967	1815967	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1815967C>G	uc003jcy.2	+	4	335	c.312C>G	c.(310-312)GAC>GAG	p.D104E		NM_004553	NP_004544	O75380	NDUS6_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 6,	104					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)	1					NADH(DB00157)													---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3600109	3600109	+	Silent	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:3600109G>A	uc003jde.2	+	2	1099	c.1047G>A	c.(1045-1047)GGG>GGA	p.G349G		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	349						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2																		---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9063157	9063157	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9063157C>G	uc003jek.2	-	18	3072	c.2360G>C	c.(2359-2361)TGG>TCG	p.W787S		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	787	TSP type-1 5.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21755822	21755822	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21755822C>G	uc010iuc.2	-	11	2221	c.1763G>C	c.(1762-1764)CGA>CCA	p.R588P	CDH12_uc011cno.1_Missense_Mutation_p.R548P|CDH12_uc003jgk.2_Missense_Mutation_p.R588P|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	588	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---
HEATR7B2	133558	broad.mit.edu	37	5	41047834	41047834	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41047834T>C	uc003jmj.3	-	17	2207	c.1717A>G	c.(1717-1719)ATG>GTG	p.M573V	HEATR7B2_uc003jmi.3_Missense_Mutation_p.M128V	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	573	HEAT 7.						binding			ovary(6)|central_nervous_system(2)	8																		---	---	---	---
TRPC7	57113	broad.mit.edu	37	5	135610444	135610444	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135610444C>T	uc003lbn.1	-	3	1045	c.1042G>A	c.(1042-1044)GCT>ACT	p.A348T	TRPC7_uc010jef.1_Intron|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.A279T|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	349	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176022630	176022630	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176022630G>A	uc003mem.1	+	32	3956	c.3890G>A	c.(3889-3891)GGG>GAG	p.G1297E	CDHR2_uc003men.1_Missense_Mutation_p.G1297E	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1297	Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2																		---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180057715	180057715	+	Silent	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180057715C>A	uc003mma.3	-	3	319	c.240G>T	c.(238-240)GTG>GTT	p.V80V	FLT4_uc003mlz.3_Silent_p.V80V|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Silent_p.V80V|FLT4_uc011dgz.1_Silent_p.V80V|FLT4_uc011dha.1_Silent_p.V80V	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	80	Ig-like C2-type 1.|Extracellular (Potential).				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)									Congenital_Hereditary_Lymphedema				---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46825952	46825952	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46825952G>T	uc003oyo.3	-	17	3977	c.3688C>A	c.(3688-3690)CTC>ATC	p.L1230I	GPR116_uc011dwj.1_Missense_Mutation_p.L785I|GPR116_uc011dwk.1_Missense_Mutation_p.L659I|GPR116_uc003oyp.3_Missense_Mutation_p.L1088I|GPR116_uc003oyq.3_Missense_Mutation_p.L1230I|GPR116_uc010jzi.1_Missense_Mutation_p.L902I	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1230	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46825953	46825953	+	Silent	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46825953G>T	uc003oyo.3	-	17	3976	c.3687C>A	c.(3685-3687)GGC>GGA	p.G1229G	GPR116_uc011dwj.1_Silent_p.G784G|GPR116_uc011dwk.1_Silent_p.G658G|GPR116_uc003oyp.3_Silent_p.G1087G|GPR116_uc003oyq.3_Silent_p.G1229G|GPR116_uc010jzi.1_Silent_p.G901G	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1229	Helical; Name=6; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150004716	150004716	+	Silent	SNP	T	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150004716T>C	uc003qmu.1	-	4	2057	c.1509A>G	c.(1507-1509)GTA>GTG	p.V503V	LATS1_uc010kif.1_Silent_p.V398V|LATS1_uc003qmv.1_Silent_p.V503V|LATS1_uc003qmw.2_Silent_p.V503V|LATS1_uc010kig.1_Silent_p.V398V	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	503					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)														---	---	---	---
MYO1G	64005	broad.mit.edu	37	7	45018563	45018563	+	5'UTR	SNP	T	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45018563T>A	uc003tmh.2	-	1					MYO1G_uc010kym.2_5'UTR|MYO1G_uc003tmi.1_5'Flank|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043			myosin IG							myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45614676	45614676	+	Silent	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45614676C>A	uc003tne.3	+	1	552	c.534C>A	c.(532-534)CCC>CCA	p.P178P	ADCY1_uc003tnd.2_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	178	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47874786	47874786	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47874786G>A	uc003tny.1	-	38	5999	c.5999C>T	c.(5998-6000)ACC>ATC	p.T2000I		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2000	Helical; (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86824010	86824010	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86824010C>A	uc003uih.2	+	17	2365	c.2039C>A	c.(2038-2040)TCT>TAT	p.S680Y	DMTF1_uc003uii.2_Missense_Mutation_p.S414Y|DMTF1_uc003uij.2_Missense_Mutation_p.S414Y|DMTF1_uc011khb.1_Missense_Mutation_p.S592Y|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.S680Y|DMTF1_uc003uin.2_Missense_Mutation_p.S414Y	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	680	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Esophageal squamous(14;0.0058)																	---	---	---	---
GCC1	79571	broad.mit.edu	37	7	127222544	127222544	+	Missense_Mutation	SNP	G	A	A	rs34883586	byFrequency;by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127222544G>A	uc003vma.2	-	2	2270	c.1852C>T	c.(1852-1854)CGC>TGC	p.R618C		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	618	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2																		---	---	---	---
ASH2L	9070	broad.mit.edu	37	8	37964667	37964667	+	Silent	SNP	A	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37964667A>T	uc003xkt.3	+	3	442	c.384A>T	c.(382-384)ACA>ACT	p.T128T	ASH2L_uc011lbk.1_Intron|ASH2L_uc003xku.3_Silent_p.T34T|ASH2L_uc010lwa.2_Silent_p.T34T	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	128	C4-type.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)																---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89339413	89339413	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89339413G>A	uc003yeb.3	-	1	305	c.23C>T	c.(22-24)ACT>ATT	p.T8I	MMP16_uc003yec.2_Missense_Mutation_p.T8I	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	8					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---
DECR1	1666	broad.mit.edu	37	8	91013798	91013798	+	Intron	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:91013798G>T	uc003yek.1	+						DECR1_uc011lgc.1_Intron|DECR1_uc011lgd.1_Intron	NM_001359	NP_001350			2,4-dienoyl CoA reductase 1 precursor						fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)													OREG0018857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ESRP1	54845	broad.mit.edu	37	8	95686661	95686661	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95686661G>T	uc003ygq.3	+	12	1761	c.1578G>T	c.(1576-1578)GAG>GAT	p.E526D	ESRP1_uc003ygr.3_Missense_Mutation_p.E526D|ESRP1_uc003ygs.3_Missense_Mutation_p.E526D|ESRP1_uc003ygt.3_Missense_Mutation_p.E526D|ESRP1_uc003ygu.3_Missense_Mutation_p.E526D|ESRP1_uc003ygv.2_Missense_Mutation_p.E366D|ESRP1_uc003ygw.2_Missense_Mutation_p.E366D	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	RNA binding motif protein 35A isoform 1	526					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	prostate(4)	4																		---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101226038	101226038	+	Intron	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101226038G>A	uc003yjh.1	+						SPAG1_uc003yji.1_Intron	NM_172218	NP_757367			sperm associated antigen 1						single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145004159	145004159	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145004159G>C	uc003zaf.1	-	22	3265	c.3095C>G	c.(3094-3096)GCC>GGC	p.A1032G	PLEC_uc003zab.1_Missense_Mutation_p.A895G|PLEC_uc003zac.1_Missense_Mutation_p.A899G|PLEC_uc003zad.2_Missense_Mutation_p.A895G|PLEC_uc003zae.1_Missense_Mutation_p.A863G|PLEC_uc003zag.1_Missense_Mutation_p.A873G|PLEC_uc003zah.2_Missense_Mutation_p.A881G|PLEC_uc003zaj.2_Missense_Mutation_p.A922G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1032	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---
SIT1	27240	broad.mit.edu	37	9	35650807	35650807	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35650807G>A	uc003zxe.1	-	1	141	c.44C>T	c.(43-45)ACT>ATT	p.T15I	SIT1_uc003zxf.1_RNA	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	SHP2-interacting transmembrane adaptor protein	15					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
RGP1	9827	broad.mit.edu	37	9	35751395	35751395	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35751395C>A	uc011lpf.1	+	6	761	c.620C>A	c.(619-621)TCC>TAC	p.S207Y	GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Missense_Mutation_p.S247Y	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog	207										ovary(1)	1	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
TMEM2	23670	broad.mit.edu	37	9	74340545	74340545	+	Silent	SNP	G	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74340545G>C	uc011lsa.1	-	11	2670	c.2130C>G	c.(2128-2130)CTC>CTG	p.L710L	TMEM2_uc010mos.2_Silent_p.L647L|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	710						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)														---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128094285	128094285	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128094285G>C	uc010mwx.2	+	14	2580	c.2254G>C	c.(2254-2256)GAT>CAT	p.D752H	GAPVD1_uc011lzs.1_Missense_Mutation_p.D752H|GAPVD1_uc004bpp.2_Missense_Mutation_p.D752H|GAPVD1_uc004bpq.2_Missense_Mutation_p.D752H|GAPVD1_uc004bpr.2_Missense_Mutation_p.D731H|GAPVD1_uc004bps.2_Missense_Mutation_p.D752H|GAPVD1_uc010mwy.1_Missense_Mutation_p.D611H	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	752					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
ZBTB43	23099	broad.mit.edu	37	9	129595849	129595849	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129595849T>A	uc004bql.2	+	3	1334	c.1061T>A	c.(1060-1062)GTA>GAA	p.V354E	ZBTB43_uc010mxf.2_Missense_Mutation_p.V354E	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
SLC25A25	114789	broad.mit.edu	37	9	130860953	130860953	+	Silent	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130860953C>G	uc004bte.2	+	1	137	c.108C>G	c.(106-108)CTC>CTG	p.L36L	SLC25A25_uc004btb.2_Intron|SLC25A25_uc004btc.2_Intron|SLC25A25_uc004btd.2_Intron|SLC25A25_uc004btf.2_5'UTR	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	36	Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0																		---	---	---	---
ZER1	10444	broad.mit.edu	37	9	131515085	131515085	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131515085A>G	uc004bwa.1	-	5	1223	c.790T>C	c.(790-792)TTC>CTC	p.F264L		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	264	LRR 2.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1																		---	---	---	---
EGFL7	51162	broad.mit.edu	37	9	139564459	139564459	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139564459C>T	uc004cid.2	+	6	1318	c.407C>T	c.(406-408)TCA>TTA	p.S136L	EGFL7_uc004cif.2_Missense_Mutation_p.S136L|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Missense_Mutation_p.S136L|EGFL7_uc004cie.2_Missense_Mutation_p.S136L|EGFL7_uc004cih.2_Missense_Mutation_p.S136L|MIR126_hsa-mir-126|MI0000471_5'Flank	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	136					angiogenesis|vasculogenesis		calcium ion binding			ovary(1)	1	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)														---	---	---	---
LIPN	643418	broad.mit.edu	37	10	90522041	90522041	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90522041C>T	uc010qmw.1	+	2	205	c.205C>T	c.(205-207)CGA>TGA	p.R69*		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	lipase-like, ab-hydrolase domain containing 4	69					lipid catabolic process	extracellular region	hydrolase activity				0		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)														---	---	---	---
CNNM2	54805	broad.mit.edu	37	10	104816657	104816657	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104816657A>C	uc001kwm.2	+	4	2133	c.2009A>C	c.(2008-2010)AAA>ACA	p.K670T	CNNM2_uc001kwn.2_Missense_Mutation_p.K670T	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	670					ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---
OBFC1	79991	broad.mit.edu	37	10	105659827	105659827	+	Silent	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105659827G>T	uc001kxl.2	-	4	525	c.450C>A	c.(448-450)ACC>ACA	p.T150T	OBFC1_uc001kxm.2_Silent_p.T150T|OBFC1_uc001kxn.2_RNA	NM_024928	NP_079204	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold	150	OB.				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			ovary(1)	1		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)														---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	132891575	132891575	+	Silent	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:132891575C>T	uc001lkp.2	-	12	1697	c.1611G>A	c.(1609-1611)ACG>ACA	p.T537T		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	537	FF 2.									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)														---	---	---	---
KRTAP5-1	387264	broad.mit.edu	37	11	1606459	1606459	+	Silent	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1606459G>T	uc001ltu.1	-	1	55	c.21C>A	c.(19-21)TCC>TCA	p.S7S	LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	7						keratin filament					0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)														---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46889557	46889557	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46889557C>T	uc001ndn.3	-	34	5206	c.5060G>A	c.(5059-5061)CGC>CAC	p.R1687H	uc001ndl.2_Intron	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1687	Extracellular (Potential).				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)														---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55339896	55339896	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55339896A>G	uc010rih.1	+	1	293	c.293A>G	c.(292-294)CAA>CGA	p.Q98R		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	98	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)																---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57182110	57182110	+	Nonsense_Mutation	SNP	G	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57182110G>C	uc001nkg.2	-	11	1448	c.1038C>G	c.(1036-1038)TAC>TAG	p.Y346*	PRG2_uc001nke.2_Nonsense_Mutation_p.Y245*|SLC43A3_uc001nkh.2_Nonsense_Mutation_p.Y346*|SLC43A3_uc010rjr.1_Nonsense_Mutation_p.Y359*|SLC43A3_uc009yme.2_Nonsense_Mutation_p.Y346*|SLC43A3_uc001nki.2_Nonsense_Mutation_p.Y346*|SLC43A3_uc009ymf.1_Nonsense_Mutation_p.Y346*	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	346					transmembrane transport	integral to membrane				central_nervous_system(1)	1																		---	---	---	---
SLC22A9	114571	broad.mit.edu	37	11	63137725	63137725	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63137725C>T	uc001nww.2	+	1	465	c.197C>T	c.(196-198)GCC>GTC	p.A66V	SLC22A9_uc001nwx.2_RNA	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	66	Extracellular (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3																		---	---	---	---
BATF2	116071	broad.mit.edu	37	11	64757201	64757201	+	Silent	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64757201C>T	uc001ocf.1	-	3	356	c.225G>A	c.(223-225)CGG>CGA	p.R75R	BATF2_uc001oce.1_5'UTR	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor,	75						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71727304	71727304	+	Silent	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71727304C>A	uc001orl.1	-	15	1417	c.1245G>T	c.(1243-1245)CTG>CTT	p.L415L	NUMA1_uc009ysw.1_5'UTR|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.L415L|NUMA1_uc001orn.2_5'UTR|NUMA1_uc009ysx.1_Silent_p.L415L|NUMA1_uc001oro.1_Silent_p.L415L	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	415	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8								T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PDE2A	5138	broad.mit.edu	37	11	72288594	72288594	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72288594C>T	uc010rrc.1	-	31	2903	c.2660G>A	c.(2659-2661)CGC>CAC	p.R887H	PDE2A_uc001oso.2_Missense_Mutation_p.R866H|PDE2A_uc010rra.1_Missense_Mutation_p.R880H|PDE2A_uc001osn.2_Missense_Mutation_p.R631H|PDE2A_uc010rrb.1_Missense_Mutation_p.R878H|PDE2A_uc010rrd.1_Missense_Mutation_p.R772H	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	887	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)													---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	465688	465688	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:465688C>G	uc001qif.1	-	6	1051	c.688G>C	c.(688-690)GTG>CTG	p.V230L	KDM5A_uc001qie.1_Missense_Mutation_p.V230L|KDM5A_uc010sdn.1_Missense_Mutation_p.V189L|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	230					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3								T 	NUP98	AML								---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2760857	2760857	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2760857G>A	uc009zdu.1	+	34	4454	c.4141G>A	c.(4141-4143)GTC>ATC	p.V1381I	CACNA1C_uc009zdv.1_Missense_Mutation_p.V1330I|CACNA1C_uc001qkb.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkc.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qke.2_Missense_Mutation_p.V1322I|CACNA1C_uc001qkf.2_Missense_Mutation_p.V1322I|CACNA1C_uc001qjz.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkd.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkg.2_Missense_Mutation_p.V1320I|CACNA1C_uc009zdw.1_Missense_Mutation_p.V1355I|CACNA1C_uc001qkh.2_Missense_Mutation_p.V1322I|CACNA1C_uc001qkl.2_Missense_Mutation_p.V1381I|CACNA1C_uc001qkn.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qko.2_Missense_Mutation_p.V1353I|CACNA1C_uc001qkp.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkr.2_Missense_Mutation_p.V1350I|CACNA1C_uc001qku.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkq.2_Missense_Mutation_p.V1361I|CACNA1C_uc001qks.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qkt.2_Missense_Mutation_p.V1333I|CACNA1C_uc001qki.1_Missense_Mutation_p.V1069I|CACNA1C_uc001qkj.1_Missense_Mutation_p.V1069I|CACNA1C_uc001qkk.1_Missense_Mutation_p.V1069I|CACNA1C_uc001qkm.1_Missense_Mutation_p.V1058I|CACNA1C_uc010sea.1_Missense_Mutation_p.V24I	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1381	Helical; Name=S4 of repeat IV; (Potential).|IV.				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)													---	---	---	---
GALNT8	26290	broad.mit.edu	37	12	4848438	4848438	+	Silent	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4848438C>A	uc001qne.1	+	3	711	c.619C>A	c.(619-621)CGG>AGG	p.R207R		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	207	Lumenal (Potential).|Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
VWF	7450	broad.mit.edu	37	12	6058252	6058252	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6058252C>A	uc001qnn.1	-	52	8621	c.8371G>T	c.(8371-8373)GGC>TGC	p.G2791C	ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2791	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)													---	---	---	---
KIAA1467	57613	broad.mit.edu	37	12	13219655	13219655	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13219655G>A	uc001rbi.2	+	6	957	c.934G>A	c.(934-936)GGG>AGG	p.G312R	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	312						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)														---	---	---	---
C12orf40	283461	broad.mit.edu	37	12	40041751	40041751	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40041751T>C	uc001rmc.2	+	6	709	c.542T>C	c.(541-543)CTT>CCT	p.L181P	C12orf40_uc009zjv.1_RNA	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	181										ovary(6)	6																		---	---	---	---
MLL2	8085	broad.mit.edu	37	12	49438225	49438225	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49438225C>A	uc001rta.3	-	20	5044	c.5044G>T	c.(5044-5046)GAG>TAG	p.E1682*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1682					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LARP4	113251	broad.mit.edu	37	12	50855135	50855135	+	Intron	SNP	G	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50855135G>C	uc001rwp.1	+						LARP4_uc001rwo.1_Intron|LARP4_uc001rwq.1_Intron|LARP4_uc001rwr.1_Intron|LARP4_uc001rws.1_Intron|LARP4_uc009zlr.1_Intron|LARP4_uc001rwt.1_Intron|LARP4_uc001rwm.2_3'UTR|LARP4_uc001rwn.2_3'UTR	NM_052879	NP_443111			c-Mpl binding protein isoform a								nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
KRT82	3888	broad.mit.edu	37	12	52788868	52788868	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52788868C>A	uc001sai.1	-	9	1548	c.1433G>T	c.(1432-1434)GGT>GTT	p.G478V		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	keratin 82	478	Tail.					keratin filament	protein binding|structural constituent of epidermis			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.193)														---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54893155	54893155	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54893155A>T	uc001sgc.3	+	2	198	c.119A>T	c.(118-120)AAA>ATA	p.K40I	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_5'UTR	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	40					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56574790	56574790	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56574790T>C	uc001skb.2	-	11	1158	c.1052A>G	c.(1051-1053)AAT>AGT	p.N351S	SMARCC2_uc001skd.2_Missense_Mutation_p.N351S|SMARCC2_uc001ska.2_Missense_Mutation_p.N351S|SMARCC2_uc001skc.2_Missense_Mutation_p.N351S|SMARCC2_uc010sqf.1_Missense_Mutation_p.N240S	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	351					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)															---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049272	70049272	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:70049272C>G	uc001svg.2	-	10	1649	c.1422G>C	c.(1420-1422)GAG>GAC	p.E474D	BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.E261D|BEST3_uc010stm.1_Missense_Mutation_p.E368D	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	474	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)															---	---	---	---
BTBD11	121551	broad.mit.edu	37	12	108012102	108012102	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108012102A>T	uc001tmk.1	+	10	2920	c.2399A>T	c.(2398-2400)TAT>TTT	p.Y800F	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.2_Missense_Mutation_p.Y800F|BTBD11_uc001tml.1_Missense_Mutation_p.Y337F	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	800						integral to membrane	DNA binding			skin(2)|ovary(1)	3																		---	---	---	---
WDR66	144406	broad.mit.edu	37	12	122441652	122441652	+	Silent	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122441652C>T	uc009zxk.2	+	22	3574	c.3432C>T	c.(3430-3432)TCC>TCT	p.S1144S		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1144							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)														---	---	---	---
SETDB2	83852	broad.mit.edu	37	13	50057068	50057068	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50057068A>G	uc001vcz.2	+	10	2294	c.1388A>G	c.(1387-1389)AAG>AGG	p.K463R	SETDB2_uc001vcy.3_Missense_Mutation_p.K451R|SETDB2_uc010adh.2_Missense_Mutation_p.K451R|SETDB2_uc001vda.2_Missense_Mutation_p.K451R	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2 isoform a	463	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)														---	---	---	---
C13orf34	79866	broad.mit.edu	37	13	73320199	73320199	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73320199G>C	uc001viv.1	+	9	975	c.856G>C	c.(856-858)GAG>CAG	p.E286Q	C13orf34_uc010thq.1_Missense_Mutation_p.E61Q|C13orf34_uc010aen.1_Missense_Mutation_p.E361Q|C13orf34_uc010thr.1_Missense_Mutation_p.E216Q|C13orf34_uc001viw.1_Missense_Mutation_p.E235Q	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	286					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)														---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110830564	110830564	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110830564T>C	uc001vqw.3	-	32	2595	c.2473A>G	c.(2473-2475)AAA>GAA	p.K825E	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	825	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)															---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23872600	23872600	+	Silent	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23872600G>A	uc001wjv.2	-	10	922	c.855C>T	c.(853-855)CAC>CAT	p.H285H	MYH6_uc010akp.1_Silent_p.H285H	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	285	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52949605	52949605	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52949605A>G	uc001wzs.2	-	13	1636	c.1187T>C	c.(1186-1188)CTA>CCA	p.L396P	TXNDC16_uc010tqu.1_Missense_Mutation_p.L391P|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	396	Thioredoxin.				cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---
DAAM1	23002	broad.mit.edu	37	14	59797928	59797928	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:59797928G>C	uc001xdz.1	+	14	1687	c.1562G>C	c.(1561-1563)AGG>ACG	p.R521T	DAAM1_uc001xea.1_Missense_Mutation_p.R521T	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	521	Potential.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)														---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60072170	60072170	+	Silent	SNP	C	G	G	rs148862799	by1000genomes	TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60072170C>G	uc001xen.1	-	5	2237	c.2028G>C	c.(2026-2028)ACG>ACC	p.T676T	RTN1_uc001xem.1_Silent_p.T256T|RTN1_uc001xek.1_Silent_p.T108T|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.T93T	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	676	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)														---	---	---	---
C14orf102	55051	broad.mit.edu	37	14	90770533	90770533	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90770533T>C	uc001xyi.1	-	5	782	c.751A>G	c.(751-753)ATC>GTC	p.I251V	C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_Missense_Mutation_p.I20V	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	251	Potential.						protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)														---	---	---	---
C14orf49	161176	broad.mit.edu	37	14	95905944	95905944	+	Intron	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95905944C>G	uc001yei.3	-						C14orf49_uc010avi.2_Intron	NM_152592	NP_689805			nesprin-3						cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33999125	33999125	+	Silent	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33999125G>A	uc001zhi.2	+	43	6559	c.6489G>A	c.(6487-6489)GTG>GTA	p.V2163V	RYR3_uc010bar.2_Silent_p.V2163V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2163	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---
TGM7	116179	broad.mit.edu	37	15	43577113	43577113	+	Silent	SNP	G	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43577113G>C	uc001zrf.1	-	7	908	c.903C>G	c.(901-903)TCC>TCG	p.S301S		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	301					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)													---	---	---	---
CPEB1	64506	broad.mit.edu	37	15	83226599	83226599	+	Silent	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83226599G>T	uc002bit.2	-	4	834	c.697C>A	c.(697-699)CGG>AGG	p.R233R	CPEB1_uc002biq.2_Silent_p.R98R|CPEB1_uc002bir.2_Silent_p.R98R|CPEB1_uc002bis.2_Silent_p.R98R|CPEB1_uc010uod.1_Intron|CPEB1_uc010uoe.1_Silent_p.R176R|CPEB1_uc002biu.2_Silent_p.R200R|CPEB1_uc010uof.1_Silent_p.R98R|CPEB1_uc002biv.2_Silent_p.R173R|CPEB1_uc002bip.2_5'Flank	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	173					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)															---	---	---	---
SEPT12	124404	broad.mit.edu	37	16	4829688	4829688	+	Intron	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4829688G>T	uc002cxq.2	-						SEPT12_uc002cxr.2_Intron|SEPT12_uc010bty.2_Intron	NM_144605	NP_653206			septin 12 isoform 2						cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			skin(1)	1																		---	---	---	---
PDXDC1	23042	broad.mit.edu	37	16	15100425	15100425	+	Silent	SNP	A	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15100425A>G	uc002dda.3	+	6	788	c.564A>G	c.(562-564)CAA>CAG	p.Q188Q	PDXDC1_uc010uzl.1_Silent_p.Q173Q|PDXDC1_uc010uzm.1_Silent_p.Q97Q|PDXDC1_uc010bvc.1_Silent_p.Q129Q|PDXDC1_uc002dcz.2_Silent_p.Q188Q|PDXDC1_uc002ddb.3_Silent_p.Q161Q|PDXDC1_uc010uzn.1_Silent_p.Q160Q|PDXDC1_uc002ddc.2_Silent_p.Q188Q	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	188					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)													---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20976517	20976517	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20976517C>T	uc010vbe.1	-	53	8689	c.8689G>A	c.(8689-8691)GTG>ATG	p.V2897M	DNAH3_uc010vbd.1_Missense_Mutation_p.V332M	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2897	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
GSG1L	146395	broad.mit.edu	37	16	27856261	27856261	+	Intron	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27856261G>T	uc002doz.2	-						GSG1L_uc010bya.1_Intron|GSG1L_uc010bxz.1_Intron|GSG1L_uc002doy.2_Intron	NM_001109763	NP_001103233			GSG1-like isoform 1							integral to membrane				ovary(1)	1																		---	---	---	---
KIFC3	3801	broad.mit.edu	37	16	57795042	57795042	+	Silent	SNP	G	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57795042G>C	uc002emp.2	-	15	2111	c.1914C>G	c.(1912-1914)ACC>ACG	p.T638T	KIFC3_uc010vhw.1_Silent_p.T536T|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Silent_p.T499T|KIFC3_uc010vhx.1_Silent_p.T496T|KIFC3_uc010cdf.2_Silent_p.T499T|KIFC3_uc002emo.3_Silent_p.T499T|KIFC3_uc010vhy.1_Silent_p.T580T|KIFC3_uc002emq.2_Silent_p.T638T|KIFC3_uc010vhz.1_Silent_p.T660T	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	638	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)																---	---	---	---
ZNRF1	84937	broad.mit.edu	37	16	75033951	75033951	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75033951C>G	uc002fdk.2	+	1	1037	c.382C>G	c.(382-384)CTA>GTA	p.L128V	ZNRF1_uc010vmz.1_Missense_Mutation_p.L128V|ZNRF1_uc002fdl.1_Missense_Mutation_p.L128V|ZNRF1_uc010cgr.1_Missense_Mutation_p.L128V	NM_032268	NP_115644	Q8ND25	ZNRF1_HUMAN	zinc and ring finger protein 1	128						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding				0																		---	---	---	---
TMEM102	284114	broad.mit.edu	37	17	7340375	7340375	+	Silent	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7340375C>T	uc002ggx.1	+	3	1350	c.1077C>T	c.(1075-1077)TGC>TGT	p.C359C	FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Silent_p.C359C|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.2_5'Flank|FGF11_uc002ggz.2_5'Flank	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	359	Cytoplasmic (Potential).				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)																---	---	---	---
LYZL6	57151	broad.mit.edu	37	17	34261839	34261839	+	Silent	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34261839C>T	uc002hkj.1	-	4	558	c.408G>A	c.(406-408)CGG>CGA	p.R136R	LYZL6_uc002hkk.1_Silent_p.R136R	NM_020426	NP_065159	O75951	LYZL6_HUMAN	lysozyme-like 6 precursor	136					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
TOP2A	7153	broad.mit.edu	37	17	38546403	38546403	+	Silent	SNP	G	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38546403G>C	uc002huq.2	-	34	4407	c.4281C>G	c.(4279-4281)ACC>ACG	p.T1427T		NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	1427					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)													---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41219625	41219625	+	Missense_Mutation	SNP	C	T	T	rs80187739		TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41219625C>T	uc002icq.2	-	16	5306	c.5074G>A	c.(5074-5076)GAT>AAT	p.D1692N	BRCA1_uc010whp.1_Missense_Mutation_p.D541N|BRCA1_uc010whl.1_Missense_Mutation_p.D588N|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.D1621N|BRCA1_uc002icu.2_Missense_Mutation_p.D588N|BRCA1_uc010cyx.2_Missense_Mutation_p.D1645N|BRCA1_uc002ict.2_Missense_Mutation_p.D1713N|BRCA1_uc010whn.1_Missense_Mutation_p.D183N|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.D421N|BRCA1_uc002idc.1_Missense_Mutation_p.D588N|BRCA1_uc010whr.1_Missense_Mutation_p.D542N	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	1692	BRCT 1.		D -> N (in ovarian cancer; could be a polymorphism).		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)				D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			---	---	---	---
PHOSPHO1	162466	broad.mit.edu	37	17	47304000	47304000	+	Intron	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47304000C>A	uc010wlv.1	-						PHOSPHO1_uc002ios.2_Intron	NM_178500	NP_848595			phosphatase, orphan 1 isoform 2						regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity				0			Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)													---	---	---	---
DSC3	1825	broad.mit.edu	37	18	28610979	28610979	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28610979G>T	uc002kwj.3	-	3	469	c.314C>A	c.(313-315)ACA>AAA	p.T105K	DSC3_uc002kwi.3_Missense_Mutation_p.T105K	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	105					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)															---	---	---	---
MIER2	54531	broad.mit.edu	37	19	334420	334420	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:334420C>A	uc002lok.1	-	3	232	c.223G>T	c.(223-225)GAG>TAG	p.E75*		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)														---	---	---	---
ZNF571	51276	broad.mit.edu	37	19	38056612	38056612	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38056612C>G	uc002ogt.2	-	4	819	c.718G>C	c.(718-720)GAA>CAA	p.E240Q	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.E240Q	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	240	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---
LILRB3	11025	broad.mit.edu	37	19	54745949	54745949	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54745949G>C	uc010erh.1	-	3	432	c.308C>G	c.(307-309)TCT>TGT	p.S103C	LILRA6_uc002qew.1_Missense_Mutation_p.S103C|LILRB3_uc002qeh.1_Missense_Mutation_p.S103C|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.S103C|LILRA6_uc002qek.1_Missense_Mutation_p.S103C|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.S103C|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.S103C|LILRB3_uc002qep.1_Missense_Mutation_p.S103C|LILRB3_uc002qeq.1_Missense_Mutation_p.S103C|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.S103C|LILRA6_uc010yep.1_Missense_Mutation_p.S103C|LILRA6_uc010yeq.1_Missense_Mutation_p.S103C|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Missense_Mutation_p.S103C|LILRA6_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	103	Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---
TGM6	343641	broad.mit.edu	37	20	2413184	2413184	+	Silent	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2413184C>T	uc002wfy.1	+	13	2077	c.2016C>T	c.(2014-2016)ATC>ATT	p.I672I	TGM6_uc010gal.1_3'UTR	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	672					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)													---	---	---	---
MIR103-2	406896	broad.mit.edu	37	20	3898161	3898161	+	RNA	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3898161C>T	hsa-mir-103-2|MI0000108	+			c.21C>T			PANK2_uc002wkb.2_Intron|PANK2_uc002wkc.2_Intron|PANK2_uc002wkd.2_Intron|PANK2_uc002wke.2_Intron|PANK2_uc002wkf.2_Intron|uc002wkg.2_RNA|MIR103-2AS_hsa-mir-103-2-as|MI0007262_RNA																	0																		---	---	---	---
SNX5	27131	broad.mit.edu	37	20	17930771	17930771	+	Intron	SNP	C	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17930771C>T	uc002wqc.2	-						SNX5_uc002wqb.2_Intron|SNX5_uc002wqd.2_Intron|SNX5_uc002wqe.2_Intron|SNX5_uc010zrt.1_Intron	NM_014426	NP_055241			sorting nexin 5						cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1																		---	---	---	---
DEFB121	245934	broad.mit.edu	37	20	29992750	29992750	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:29992750G>T	uc002wvv.1	-	2	233	c.197C>A	c.(196-198)ACA>AAA	p.T66K		NM_001011878	NP_001011878	Q5J5C9	DB121_HUMAN	defensin, beta 121 precursor	66					defense response to bacterium	extracellular region					0	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
SAMHD1	25939	broad.mit.edu	37	20	35559253	35559253	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35559253C>A	uc002xgh.1	-	5	665	c.535G>T	c.(535-537)GTT>TTT	p.V179F		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	179	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)																---	---	---	---
TP53TG5	27296	broad.mit.edu	37	20	44005922	44005922	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44005922G>T	uc002xny.2	-	3	265	c.184C>A	c.(184-186)CTG>ATG	p.L62M	SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	TP53-target gene 5 protein	62					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1																		---	---	---	---
ZNFX1	57169	broad.mit.edu	37	20	47864683	47864683	+	Silent	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47864683G>A	uc002xui.2	-	14	5125	c.4878C>T	c.(4876-4878)ATC>ATT	p.I1626I		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1626							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50307283	50307283	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50307283T>A	uc002xwg.1	-	8	718	c.718A>T	c.(718-720)ACC>TCC	p.T240S	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	240	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4																		---	---	---	---
ZFP64	55734	broad.mit.edu	37	20	50769930	50769930	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50769930C>G	uc002xwl.2	-	6	1150	c.801G>C	c.(799-801)AAG>AAC	p.K267N	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.K265N|ZFP64_uc002xwn.2_Missense_Mutation_p.K213N	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	267	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57767635	57767635	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57767635G>A	uc002yan.2	+	1	1561	c.1561G>A	c.(1561-1563)GAG>AAG	p.E521K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	521						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---
PTK6	5753	broad.mit.edu	37	20	62165631	62165631	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62165631C>G	uc002yfg.2	-	3	430	c.390G>C	c.(388-390)TGG>TGC	p.W130C	PTK6_uc011aay.1_Missense_Mutation_p.W29C|PTK6_uc011aaz.1_5'Flank|PTK6_uc011aba.1_3'UTR	NM_005975	NP_005966	Q13882	PTK6_HUMAN	PTK6 protein tyrosine kinase 6	130	SH2.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|kidney(1)	2	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)															---	---	---	---
KRTAP19-4	337971	broad.mit.edu	37	21	31869360	31869360	+	Silent	SNP	A	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31869360A>G	uc011acz.1	-	1	69	c.69T>C	c.(67-69)TAT>TAC	p.Y23Y		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	23						intermediate filament				ovary(2)	2																		---	---	---	---
SCUBE1	80274	broad.mit.edu	37	22	43625083	43625083	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43625083C>A	uc003bdt.1	-	9	1167	c.1079G>T	c.(1078-1080)TGC>TTC	p.C360F		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	360	EGF-like 8; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)														OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SCUBE1	80274	broad.mit.edu	37	22	43625084	43625084	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43625084A>G	uc003bdt.1	-	9	1166	c.1078T>C	c.(1078-1080)TGC>CGC	p.C360R		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	360	EGF-like 8; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)														OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CERK	64781	broad.mit.edu	37	22	47116006	47116006	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47116006A>T	uc003bia.2	-	3	463	c.356T>A	c.(355-357)CTG>CAG	p.L119Q		NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	119	Required for binding to sulfatide and phosphoinositides.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---
MLC1	23209	broad.mit.edu	37	22	50518762	50518762	+	Intron	SNP	G	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50518762G>A	uc003bjg.1	-						MLC1_uc011arl.1_Intron|MLC1_uc003bjh.1_Intron|MLC1_uc011arm.1_Intron|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Intron	NM_139202	NP_631941			megalencephalic leukoencephalopathy with							basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)														---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53222343	53222343	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53222343C>G	uc004drz.2	-	26	5022	c.4489G>C	c.(4489-4491)GAG>CAG	p.E1497Q	KDM5C_uc011moc.1_Intron|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Missense_Mutation_p.E1496Q|uc004dsb.1_Intron	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	1497					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18								N|F|S		clear cell renal carcinoma								---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79939565	79939565	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79939565C>A	uc004edt.2	-	37	4440	c.4177G>T	c.(4177-4179)GAT>TAT	p.D1393Y	BRWD3_uc010nmi.1_Intron|BRWD3_uc004edo.2_Missense_Mutation_p.D989Y|BRWD3_uc004edp.2_Missense_Mutation_p.D1222Y|BRWD3_uc004edq.2_Missense_Mutation_p.D989Y|BRWD3_uc010nmj.1_Missense_Mutation_p.D989Y|BRWD3_uc004edr.2_Missense_Mutation_p.D1063Y|BRWD3_uc004eds.2_Missense_Mutation_p.D989Y|BRWD3_uc004edu.2_Missense_Mutation_p.D1063Y|BRWD3_uc004edv.2_Missense_Mutation_p.D989Y|BRWD3_uc004edw.2_Missense_Mutation_p.D989Y|BRWD3_uc004edx.2_Missense_Mutation_p.D989Y|BRWD3_uc004edy.2_Missense_Mutation_p.D989Y|BRWD3_uc004edz.2_Missense_Mutation_p.D1063Y|BRWD3_uc004eea.2_Missense_Mutation_p.D1063Y|BRWD3_uc004eeb.2_Missense_Mutation_p.D989Y	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1393	Bromo 2.									ovary(4)	4																		---	---	---	---
SEPT6	23157	broad.mit.edu	37	X	118767452	118767452	+	Silent	SNP	T	C	C			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118767452T>C	uc004erv.2	-	8	1225	c.960A>G	c.(958-960)TTA>TTG	p.L320L	SEPT6_uc010nqk.2_Intron|SEPT6_uc004ers.2_Silent_p.L320L|SEPT6_uc004ert.2_Silent_p.L320L|SEPT6_uc004eru.2_Silent_p.L320L|SEPT6_uc004erw.2_Silent_p.L262L|SEPT6_uc011mtv.1_Silent_p.L262L|SEPT6_uc011mtw.1_Silent_p.L350L	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	320					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4																		---	---	---	---
UTP14A	10813	broad.mit.edu	37	X	129042700	129042700	+	Silent	SNP	C	G	G			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129042700C>G	uc004euz.2	+	4	256	c.228C>G	c.(226-228)GTC>GTG	p.V76V	UTP14A_uc011mup.1_Silent_p.V76V|UTP14A_uc011muq.1_Intron	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein,	76					rRNA processing	nucleolus|small-subunit processome	protein binding			ovary(2)	2																		---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153070157	153070157	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4443-01	TCGA-CG-4443-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153070157C>A	uc004fiz.1	-	8	1211	c.961G>T	c.(961-963)GCC>TCC	p.A321S	PDZD4_uc004fiy.1_Missense_Mutation_p.A246S|PDZD4_uc004fix.2_Missense_Mutation_p.A225S|PDZD4_uc004fja.1_Missense_Mutation_p.A327S|PDZD4_uc011mze.1_Missense_Mutation_p.A212S	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	321						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
