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
Unknown	0	broad.mit.edu	37	1	226505958	226505970	+	IGR	DEL	CAGGAACCTTCTC	-	-	rs150883371	by1000genomes	TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226505958_226505970delCAGGAACCTTCTC								LIN9 (8388 upstream) : PARP1 (42423 downstream)																																			---	---	---	---
RGPD4	285190	broad.mit.edu	37	2	108479623	108479623	+	Intron	DEL	T	-	-			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:108479623delT	uc010ywk.1	+						RGPD4_uc002tdu.2_Intron|RGPD4_uc010ywl.1_Intron	NM_182588	NP_872394			RANBP2-like and GRIP domain containing 4						intracellular transport		binding			skin(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	134405278	134405280	+	IGR	DEL	AAA	-	-			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:134405278_134405280delAAA								NCKAP5 (79247 upstream) : MGAT5 (606550 downstream)																																			---	---	---	---
PGAP1	80055	broad.mit.edu	37	2	197762942	197762942	+	Intron	DEL	A	-	-			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197762942delA	uc002utw.2	-						PGAP1_uc002utx.2_Intron|PGAP1_uc002uty.1_Intron|PGAP1_uc010zgv.1_Intron|PGAP1_uc010fsj.2_Intron	NM_024989	NP_079265			GPI deacylase						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211481424	211481424	+	Intron	DEL	T	-	-			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211481424delT	uc002vee.3	+						CPS1_uc010fur.2_Intron|CPS1_uc010fus.2_Intron|LOC29034_uc002vef.2_5'Flank	NM_001875	NP_001866			carbamoyl-phosphate synthetase 1 isoform b						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64160717	64160718	+	Intron	INS	-	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64160717_64160718insA	uc003dmf.2	-							NM_198859	NP_942559			prickle-like 2							cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)														---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41699388	41699388	+	3'UTR	DEL	T	-	-	rs113753743		TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41699388delT	uc003gvu.3	+	27					LIMCH1_uc003gvv.3_3'UTR|LIMCH1_uc003gvw.3_3'UTR|LIMCH1_uc003gvx.3_3'UTR|LIMCH1_uc003gwe.3_3'UTR|LIMCH1_uc003gvy.3_3'UTR|LIMCH1_uc003gwa.3_3'UTR|LIMCH1_uc003gvz.3_3'UTR|LIMCH1_uc011byu.1_3'UTR|LIMCH1_uc003gwc.3_3'UTR|LIMCH1_uc003gwd.3_3'UTR|LIMCH1_uc011byv.1_3'UTR|LIMCH1_uc011byw.1_3'UTR|LIMCH1_uc010ifv.2_RNA	NM_014988	NP_055803			LIM and calponin homology domains 1 isoform a						actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79950724	79950725	+	In_Frame_Ins	INS	-	CCGCAGCGC	CCGCAGCGC	rs2001675		TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79950724_79950725insCCGCAGCGC	uc003kgz.2	+	1	431_432	c.178_179insCCGCAGCGC	c.(178-180)GCC>GCCGCAGCGCCC	p.63_64insAAP	DHFR_uc011ctl.1_5'Flank|DHFR_uc011ctm.1_5'Flank|DHFR_uc010jap.1_5'Flank|DHFR_uc003kgx.1_Intron|DHFR_uc003kgy.1_5'UTR	NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	63_64			Missing.		maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)									MMR					---	---	---	---
SMAD5	4090	broad.mit.edu	37	5	135496896	135496898	+	Intron	DEL	ATA	-	-	rs149475910		TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135496896_135496898delATA	uc003lbj.1	+						SMAD5_uc003lbk.1_Intron|SMAD5_uc003lbl.1_Intron	NM_001001419	NP_001001419			SMAD family member 5						BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
BRPF3	27154	broad.mit.edu	37	6	36193259	36193259	+	Intron	DEL	A	-	-	rs41270094	by1000genomes	TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36193259delA	uc003olv.3	+						BRPF3_uc010jwb.2_Intron|BRPF3_uc011dtj.1_Intron|BRPF3_uc010jwc.2_Intron|BRPF3_uc011dtk.1_Intron|BRPF3_uc010jwd.2_Intron	NM_015695	NP_056510			bromodomain and PHD finger containing, 3						histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72947394	72947394	+	Intron	DEL	G	-	-			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72947394delG	uc003pga.2	+						RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgb.3_Intron|RIMS1_uc010kas.1_Intron	NM_014989	NP_055804			regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)																---	---	---	---
MOBKL2B	79817	broad.mit.edu	37	9	27359377	27359377	+	Intron	DEL	G	-	-			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27359377delG	uc003zqn.2	-							NM_024761	NP_079037			MOB1, Mps One Binder kinase activator-like 2B								metal ion binding|protein binding			ovary(1)|pleura(1)	2		all_neural(11;9.12e-11)		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)														---	---	---	---
BMPR1A	657	broad.mit.edu	37	10	88614691	88614691	+	Intron	DEL	T	-	-			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88614691delT	uc001kdy.2	+							NM_004329	NP_004320			bone morphogenetic protein receptor, type IA						BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8								Mis|N|F			gastrointestinal polyps			Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis				---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95095461	95095462	+	Intron	INS	-	TTTCC	TTTCC	rs148769270	by1000genomes	TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95095461_95095462insTTTCC	uc001kin.2	-						MYOF_uc001kio.2_Intron|MYOF_uc009xue.2_Intron	NM_013451	NP_038479			myoferlin isoform a						blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4																		---	---	---	---
SPTBN2	6712	broad.mit.edu	37	11	66468026	66468026	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66468026delG	uc001ojd.2	-	16	3616	c.3544delC	c.(3544-3546)CGTfs	p.R1182fs		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1182	Spectrin 9.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
POU6F1	5463	broad.mit.edu	37	12	51585884	51585891	+	Intron	DEL	CTCGGCCT	-	-	rs11276817		TCGA-D7-6818-01	TCGA-D7-6818-01									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																		---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28473275	28473276	+	Intron	INS	-	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28473275_28473276insA	uc001zbj.2	-							NM_004667	NP_004658			hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
MRPL28	10573	broad.mit.edu	37	16	420348	420348	+	5'Flank	DEL	C	-	-			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:420348delC	uc002cgr.1	-						MRPL28_uc010bqu.1_5'Flank|MRPL28_uc002cgs.1_Intron|MRPL28_uc002cgt.1_Intron	NM_006428	NP_006419			mitochondrial ribosomal protein L28 precursor						translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)																---	---	---	---
RAB11FIP3	9727	broad.mit.edu	37	16	554302	554303	+	Intron	INS	-	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:554302_554303insG	uc002chf.2	+						RAB11FIP3_uc010uuf.1_Intron|RAB11FIP3_uc010uug.1_Intron	NM_014700	NP_055515			rab11-family interacting protein 3 isoform 1						cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding				0		Hepatocellular(16;0.0218)																---	---	---	---
LMF1	64788	broad.mit.edu	37	16	918777	918777	+	Intron	DEL	G	-	-	rs72194875		TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:918777delG	uc002ckj.2	-						LMF1_uc010brg.2_Intron|LMF1_uc010brh.2_Intron|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_Intron	NM_022773	NP_073610			lipase maturation factor 1							endoplasmic reticulum membrane|integral to membrane					0		Hepatocellular(780;0.00308)																---	---	---	---
PPL	5493	broad.mit.edu	37	16	4959425	4959426	+	Intron	INS	-	TT	TT			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4959425_4959426insTT	uc002cyd.1	-							NM_002705	NP_002696			periplakin						keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577090	7577096	+	Frame_Shift_Del	DEL	CGCCGGT	-	-	rs149633775	byFrequency	TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7577090_7577096delCGCCGGT	uc002gim.2	-	8	1036_1042	c.842_848delACCGGCG	c.(841-849)GACCGGCGCfs	p.D281fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.D281fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.D149fs|TP53_uc010cng.1_Frame_Shift_Del_p.D149fs|TP53_uc002gii.1_Frame_Shift_Del_p.D149fs|TP53_uc010cnh.1_Frame_Shift_Del_p.D281fs|TP53_uc010cni.1_Frame_Shift_Del_p.D281fs|TP53_uc002gij.2_Frame_Shift_Del_p.D281fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	281_283	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(366)|p.R282G(27)|p.D281E(25)|p.R283P(23)|p.R282Q(21)|p.D281H(19)|p.D281N(18)|p.R283C(17)|p.R282P(14)|p.R283H(12)|p.D281G(10)|p.R282R(8)|p.0?(7)|p.D281Y(6)|p.D281D(5)|p.R283L(4)|p.R283fs*62(4)|p.R282L(3)|p.D281V(3)|p.R283G(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.R283fs*63(2)|p.?(2)|p.R283fs*16(2)|p.R282fs*24(2)|p.D281A(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.F270_D281del12(1)|p.R282H(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.D281R(1)|p.D281_R282delDR(1)|p.R280fs*62(1)|p.R283_T284>T(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---
Unknown	0	broad.mit.edu	37	17	7858583	7858584	+	IGR	INS	-	AA	AA	rs78611358		TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7858583_7858584insAA								CNTROB (5688 upstream) : GUCY2D (47404 downstream)																																			---	---	---	---
LRRC37A2	474170	broad.mit.edu	37	17	44627768	44627768	+	Intron	DEL	T	-	-			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44627768delT	uc002ikn.1	+						ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Intron|LRRC37A2_uc010dax.1_Intron	NM_001006607	NP_001006608			c114 SLIT-like testicular protein precursor							integral to membrane					0		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)														---	---	---	---
Unknown	0	broad.mit.edu	37	18	32963873	32963873	+	IGR	DEL	A	-	-			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32963873delA								ZNF396 (6572 upstream) : INO80C (69417 downstream)																																			---	---	---	---
UHRF1	29128	broad.mit.edu	37	19	4960949	4960949	+	3'UTR	DEL	T	-	-	rs146145010		TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4960949delT	uc002mbo.2	+	19					UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_3'UTR	NM_001048201	NP_001041666			ubiquitin-like with PHD and ring finger domains						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)														---	---	---	---
CD22	933	broad.mit.edu	37	19	35836324	35836325	+	Intron	DEL	AA	-	-			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35836324_35836325delAA	uc010edt.2	+						CD22_uc010xst.1_Intron|CD22_uc010edu.2_Intron|CD22_uc010edv.2_Intron|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_Intron	NM_001771	NP_001762			CD22 molecule precursor						cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)													---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16362190	16362190	+	Intron	DEL	G	-	-	rs76332567	by1000genomes	TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:16362190delG	uc002wpg.1	-						KIF16B_uc002wpe.1_5'Flank|KIF16B_uc002wpf.1_5'Flank|KIF16B_uc010gch.1_Intron|KIF16B_uc010gci.1_Intron|KIF16B_uc010gcj.1_Intron	NM_024704	NP_078980			kinesin-like motor protein C20orf23						cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8																		---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085723	11085725	+	Intron	DEL	ACC	-	-			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:11085723_11085725delACC	uc002yit.1	-						BAGE_uc002yix.2_Intron	NM_182482	NP_872288			B melanoma antigen family, member 2 precursor												0			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)														---	---	---	---
AJAP1	55966	broad.mit.edu	37	1	4772679	4772679	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:4772679T>G	uc001alm.1	+	2	1130	c.749T>G	c.(748-750)GTT>GGT	p.V250G	AJAP1_uc001aln.2_Missense_Mutation_p.V250G	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN	adherens junction associated protein 1	250	Extracellular (Potential).				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				lung(1)	1	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)														---	---	---	---
HTR1D	3352	broad.mit.edu	37	1	23520606	23520606	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23520606G>A	uc001bgn.2	-	1	617	c.107C>T	c.(106-108)GCG>GTG	p.A36V		NM_000864	NP_000855	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D	36	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)													---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24387551	24387551	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24387551C>A	uc001bin.3	-	35	4156	c.3993G>T	c.(3991-3993)AAG>AAT	p.K1331N	MYOM3_uc001bil.3_Missense_Mutation_p.K224N|MYOM3_uc001bim.3_Missense_Mutation_p.K988N	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1331										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)														---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34112430	34112430	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34112430T>G	uc001bxn.1	-	29	4501	c.4472A>C	c.(4471-4473)AAC>ACC	p.N1491T	CSMD2_uc001bxm.1_Missense_Mutation_p.N1531T|CSMD2_uc001bxo.1_Missense_Mutation_p.N404T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1491	CUB 9.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67292601	67292601	+	Silent	SNP	A	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67292601A>T	uc001dcx.2	-	15	2297	c.2241T>A	c.(2239-2241)ACT>ACA	p.T747T	WDR78_uc009waw.2_Silent_p.T460T|WDR78_uc009wax.2_RNA	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	747	WD 5.									ovary(2)	2																		---	---	---	---
IFI44L	10964	broad.mit.edu	37	1	79095598	79095598	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:79095598C>T	uc010oro.1	+	4	900	c.721C>T	c.(721-723)CGG>TGG	p.R241W	IFI44L_uc010orp.1_5'UTR|IFI44L_uc010orq.1_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	241						cytoplasm					0																		---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152328611	152328611	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152328611T>G	uc001ezw.3	-	3	1724	c.1651A>C	c.(1651-1653)AGT>CGT	p.S551R	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	551	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
C1orf43	25912	broad.mit.edu	37	1	154180004	154180004	+	Missense_Mutation	SNP	C	G	G	rs11555361		TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154180004C>G	uc001fei.2	-	7	1077	c.687G>C	c.(685-687)AAG>AAC	p.K229N	C1orf189_uc001fee.1_5'Flank|C1orf43_uc001fef.1_Missense_Mutation_p.K126N|C1orf43_uc001feg.2_Missense_Mutation_p.K195N|C1orf43_uc001feh.2_Missense_Mutation_p.K177N|C1orf43_uc001fej.2_Missense_Mutation_p.K211N|C1orf43_uc009wos.1_3'UTR	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	hypothetical protein LOC25912 isoform 3	229						integral to membrane	coenzyme binding|oxidoreductase activity				0	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)																	---	---	---	---
OR10K2	391107	broad.mit.edu	37	1	158390476	158390476	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158390476A>C	uc010pii.1	-	1	181	c.181T>G	c.(181-183)TTC>GTC	p.F61V		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)																	---	---	---	---
MNDA	4332	broad.mit.edu	37	1	158819011	158819011	+	Missense_Mutation	SNP	C	T	T	rs147701010	byFrequency	TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158819011C>T	uc001fsz.1	+	7	1408	c.1208C>T	c.(1207-1209)CCA>CTA	p.P403L		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	403					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)																	---	---	---	---
ATP1A4	480	broad.mit.edu	37	1	160147396	160147396	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160147396G>A	uc001fve.3	+	18	3157	c.2678G>A	c.(2677-2679)CGC>CAC	p.R893H	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.R396H|ATP1A4_uc001fvh.2_Missense_Mutation_p.R29H	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	893	Extracellular (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---
CD84	8832	broad.mit.edu	37	1	160518103	160518103	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160518103T>G	uc001fwh.3	-	8	1005	c.981A>C	c.(979-981)AAA>AAC	p.K327N	CD84_uc001fwf.3_Missense_Mutation_p.K310N|CD84_uc001fwg.3_Missense_Mutation_p.K321N|CD84_uc009wtn.2_3'UTR|CD84_uc001fwi.3_Missense_Mutation_p.K196N	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	327	Cytoplasmic (Potential).				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---
QSOX1	5768	broad.mit.edu	37	1	180155295	180155295	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180155295A>G	uc001gnz.2	+	8	1070	c.995A>G	c.(994-996)AAG>AGG	p.K332R	QSOX1_uc001gny.2_Missense_Mutation_p.K332R|QSOX1_uc001goa.2_Missense_Mutation_p.K332R	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	332					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186055375	186055375	+	Intron	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186055375T>G	uc001grq.1	+							NM_031935	NP_114141			hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215914804	215914804	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215914804A>G	uc001hku.1	-	60	12011	c.11624T>C	c.(11623-11625)CTT>CCT	p.L3875P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3875	Fibronectin type-III 24.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216373317	216373317	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216373317T>G	uc001hku.1	-	17	3850	c.3463A>C	c.(3463-3465)AGT>CGT	p.S1155R	USH2A_uc001hkv.2_Missense_Mutation_p.S1155R	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1155	Extracellular (Potential).|Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226923713	226923713	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226923713C>A	uc010pvo.1	-	2	1787	c.1447G>T	c.(1447-1449)GAC>TAC	p.D483Y	ITPKB_uc001hqh.2_Missense_Mutation_p.D483Y	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	483							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)																---	---	---	---
LYST	1130	broad.mit.edu	37	1	235918870	235918870	+	Silent	SNP	T	C	C	rs61738992	byFrequency;by1000genomes	TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235918870T>C	uc001hxj.2	-	25	7312	c.7137A>G	c.(7135-7137)CTA>CTG	p.L2379L	LYST_uc009xga.1_5'Flank	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2379					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											Chediak-Higashi_syndrome				---	---	---	---
OR2L2	26246	broad.mit.edu	37	1	248201728	248201728	+	Silent	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248201728T>C	uc001idw.2	+	1	255	c.159T>C	c.(157-159)CAT>CAC	p.H53H	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)															---	---	---	---
OR2M3	127062	broad.mit.edu	37	1	248366812	248366812	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248366812C>T	uc010pzg.1	+	1	443	c.443C>T	c.(442-444)TCC>TTC	p.S148F		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)															---	---	---	---
SUPT7L	9913	broad.mit.edu	37	2	27878399	27878399	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27878399G>A	uc002rlh.1	-	5	1158	c.815C>T	c.(814-816)CCT>CTT	p.P272L	SUPT7L_uc002rli.1_Missense_Mutation_p.P272L|SUPT7L_uc010ymf.1_Missense_Mutation_p.P137L|SUPT7L_uc002rlj.1_Missense_Mutation_p.P270L|SUPT7L_uc010ezh.1_Missense_Mutation_p.P270L	NM_014860	NP_055675	O94864	ST65G_HUMAN	SPTF-associated factor 65 gamma	272					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
TACR1	6869	broad.mit.edu	37	2	75276845	75276845	+	Missense_Mutation	SNP	C	T	T	rs148591370		TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75276845C>T	uc002sng.2	-	5	1523	c.938G>A	c.(937-939)CGT>CAT	p.R313H		NM_001058	NP_001049	P25103	NK1R_HUMAN	tachykinin receptor 1 isoform long	313	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			ovary(1)	1					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)													---	---	---	---
CACNB4	785	broad.mit.edu	37	2	152727081	152727081	+	Silent	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152727081C>T	uc002tya.2	-	8	731	c.663G>A	c.(661-663)CCG>CCA	p.P221P	CACNB4_uc002txy.2_Silent_p.P187P|CACNB4_uc002txz.2_Silent_p.P203P|CACNB4_uc010fnz.2_Silent_p.P221P|CACNB4_uc002tyb.2_Silent_p.P187P	NM_000726	NP_000717	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4	221					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)													---	---	---	---
LY75	4065	broad.mit.edu	37	2	160676350	160676350	+	Missense_Mutation	SNP	T	G	G	rs17827158	byFrequency;by1000genomes	TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160676350T>G	uc002ubc.3	-	29	4109	c.4040A>C	c.(4039-4041)AAG>ACG	p.K1347T	LY75_uc002ubb.3_Missense_Mutation_p.K1347T|LY75_uc010fos.2_Missense_Mutation_p.K1347T	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	1347	Extracellular (Potential).|C-type lectin 8.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)														---	---	---	---
CSRNP3	80034	broad.mit.edu	37	2	166536175	166536175	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166536175C>T	uc002udf.2	+	7	2046	c.1670C>T	c.(1669-1671)CCT>CTT	p.P557L	CSRNP3_uc002udg.2_Missense_Mutation_p.P557L	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	557					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5																		---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167334146	167334146	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:167334146T>G	uc002udu.1	-	2	188	c.61A>C	c.(61-63)ATA>CTA	p.I21L	SCN7A_uc002udv.1_Missense_Mutation_p.I21L	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	21					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1																		---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170034354	170034354	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170034354G>T	uc002ues.2	-	53	10565	c.10352C>A	c.(10351-10353)CCA>CAA	p.P3451Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3451	LDL-receptor class B 34.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
TTN	7273	broad.mit.edu	37	2	179583903	179583903	+	Silent	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179583903G>A	uc010zfg.1	-	80	20706	c.20482C>T	c.(20482-20484)CTG>TTG	p.L6828L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L3489L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7755							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---
ZSWIM2	151112	broad.mit.edu	37	2	187693166	187693166	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187693166A>C	uc002upu.1	-	9	1487	c.1447T>G	c.(1447-1449)TTA>GTA	p.L483V		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	483					apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)															---	---	---	---
TMEFF2	23671	broad.mit.edu	37	2	192815182	192815182	+	Intron	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192815182A>C	uc002utc.2	-							NM_016192	NP_057276			transmembrane protein with EGF-like and two							extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)															---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200188688	200188688	+	Intron	SNP	A	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:200188688A>T	uc002uuy.1	-						SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Intron|SATB2_uc002uva.1_Intron	NM_015265	NP_056080			SATB homeobox 2							cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228160044	228160044	+	Intron	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228160044T>G	uc002vom.1	+						COL4A3_uc002von.1_Intron|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082			alpha 3 type IV collagen isoform 1 precursor						activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)														---	---	---	---
SATB1	6304	broad.mit.edu	37	3	18457585	18457585	+	Silent	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:18457585A>C	uc003cbh.2	-	4	2164	c.429T>G	c.(427-429)TCT>TCG	p.S143S	SATB1_uc003cbi.2_Silent_p.S143S|SATB1_uc003cbj.2_Silent_p.S143S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	143	Protein interaction.|PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4																		---	---	---	---
SLC38A3	10991	broad.mit.edu	37	3	50252210	50252210	+	Intron	SNP	C	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50252210C>A	uc003cyn.3	+						SLC38A3_uc011bdl.1_Intron|SLC38A3_uc011bdm.1_Intron	NM_006841	NP_006832			solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)													---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52428625	52428625	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52428625G>A	uc011bef.1	+	67	11032	c.10771G>A	c.(10771-10773)GTG>ATG	p.V3591M	DNAH1_uc003ddv.2_Missense_Mutation_p.V449M	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3656					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64635379	64635379	+	Silent	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64635379G>A	uc003dmg.2	-	10	1571	c.1539C>T	c.(1537-1539)ATC>ATT	p.I513I	ADAMTS9_uc011bfo.1_Silent_p.I485I|ADAMTS9_uc003dmh.1_Silent_p.I342I|ADAMTS9_uc003dmk.1_Silent_p.I513I	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	513	Disintegrin.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74548801	74548801	+	Intron	SNP	T	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:74548801T>A	uc003dpm.1	-							NM_020872	NP_065923			contactin 3 precursor						cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)														---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114069713	114069713	+	Silent	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:114069713A>C	uc003ebi.2	-	4	1392	c.1212T>G	c.(1210-1212)GCT>GCG	p.A404A	ZBTB20_uc003ebj.2_Silent_p.A331A|ZBTB20_uc010hqp.2_Silent_p.A331A|ZBTB20_uc003ebk.2_Silent_p.A331A|ZBTB20_uc003ebl.2_Silent_p.A331A|ZBTB20_uc003ebm.2_Silent_p.A331A|ZBTB20_uc003ebn.2_Silent_p.A331A|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)														---	---	---	---
TRH	7200	broad.mit.edu	37	3	129696060	129696060	+	3'UTR	SNP	A	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129696060A>T	uc003enc.2	+	3						NM_007117	NP_009048			thyrotropin-releasing hormone						cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			ovary(1)	1																		---	---	---	---
KY	339855	broad.mit.edu	37	3	134322598	134322598	+	Silent	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134322598A>G	uc010hty.2	-	11	1871	c.1809T>C	c.(1807-1809)GGT>GGC	p.G603G	KY_uc011blw.1_3'UTR|KY_uc011blx.1_Silent_p.G582G	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	Error:Variant_position_missing_in_Q8NBH2_after_alignment						cytoskeleton|Z disc	peptidase activity			ovary(2)	2																		---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128310	147128310	+	Silent	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:147128310C>T	uc003ewe.2	+	1	1130	c.411C>T	c.(409-411)GCC>GCT	p.A137A		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	137					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	171965423	171965423	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:171965423A>G	uc003fhy.2	+	5	537	c.365A>G	c.(364-366)CAT>CGT	p.H122R	FNDC3B_uc003fhz.3_Missense_Mutation_p.H122R|FNDC3B_uc003fia.2_Missense_Mutation_p.H53R	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	122						endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)														---	---	---	---
KCNMB2	10242	broad.mit.edu	37	3	178560470	178560470	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178560470T>G	uc003fjd.2	+	5	796	c.453T>G	c.(451-453)AAT>AAG	p.N151K	uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Missense_Mutation_p.N151K|KCNMB2_uc003fjf.2_Missense_Mutation_p.N151K|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	calcium-activated potassium channel beta 2	151	Extracellular (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(1)	1	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)															---	---	---	---
ACTL6A	86	broad.mit.edu	37	3	179292262	179292262	+	Intron	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179292262T>G	uc003fjw.2	+						ACTL6A_uc003fjx.2_Intron|ACTL6A_uc003fjy.2_Intron	NM_004301	NP_004292			actin-like 6A isoform 1						chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)															---	---	---	---
C3orf59	151963	broad.mit.edu	37	3	192516834	192516834	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:192516834A>C	uc011bsp.1	-	2	1138	c.817T>G	c.(817-819)TTG>GTG	p.L273V		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	273											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)														---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195474111	195474111	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195474111C>T	uc011bto.1	-	26	16251	c.15791G>A	c.(15790-15792)CGC>CAC	p.R5264H	MUC4_uc010hzq.2_Missense_Mutation_p.R249H|MUC4_uc003fuz.2_Missense_Mutation_p.R990H|MUC4_uc003fva.2_Missense_Mutation_p.R872H|MUC4_uc003fvb.2_Missense_Mutation_p.R908H|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.R908H|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.R872H|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.R956H|MUC4_uc011bti.1_Missense_Mutation_p.R956H|MUC4_uc011btj.1_Missense_Mutation_p.R1133H|MUC4_uc011btk.1_Missense_Mutation_p.R872H|MUC4_uc011btl.1_Missense_Mutation_p.R901H|MUC4_uc011btm.1_Missense_Mutation_p.R1081H|MUC4_uc011btn.1_Missense_Mutation_p.R872H|MUC4_uc003fvo.2_Missense_Mutation_p.R1156H|MUC4_uc003fvp.2_Missense_Mutation_p.R1105H	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	2149					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)														---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20521042	20521042	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20521042A>G	uc003gpr.1	+	12	1300	c.1096A>G	c.(1096-1098)AGT>GGT	p.S366G	SLIT2_uc003gps.1_Missense_Mutation_p.S366G	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	366	LRR 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
TMPRSS11A	339967	broad.mit.edu	37	4	68780403	68780403	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68780403C>T	uc003hdr.1	-	9	1128	c.1007G>A	c.(1006-1008)AGT>AAT	p.S336N	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.S333N	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	336	Peptidase S1.|Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1																		---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73169658	73169658	+	Silent	SNP	A	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73169658A>T	uc003hgk.1	-	17	2437	c.2400T>A	c.(2398-2400)CCT>CCA	p.P800P	ADAMTS3_uc003hgl.2_Silent_p.P141P	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	800	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
THAP6	152815	broad.mit.edu	37	4	76442037	76442037	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76442037G>C	uc003him.2	+	3	233	c.136G>C	c.(136-138)GAT>CAT	p.D46H	RCHY1_uc003hij.2_5'Flank|RCHY1_uc003hik.2_5'Flank|RCHY1_uc003hil.2_5'Flank|RCHY1_uc010iip.2_5'Flank|RCHY1_uc010iiq.2_5'Flank|RCHY1_uc010iir.2_5'Flank|THAP6_uc010iis.1_Missense_Mutation_p.D5H|THAP6_uc003hin.2_Missense_Mutation_p.D46H|THAP6_uc011cbm.1_Missense_Mutation_p.D46H|THAP6_uc010iiu.1_RNA|THAP6_uc003hio.1_RNA|THAP6_uc010iiv.2_Missense_Mutation_p.D46H	NM_144721	NP_653322	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	46	THAP-type.					microtubule cytoskeleton	DNA binding|metal ion binding				0			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)															---	---	---	---
THAP9	79725	broad.mit.edu	37	4	83822021	83822021	+	Silent	SNP	C	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:83822021C>A	uc003hnt.2	+	1	185	c.66C>A	c.(64-66)GGC>GGA	p.G22G	SEC31A_uc003hnm.2_5'Flank|uc003hnp.2_5'Flank|uc003hnq.2_5'Flank|uc003hnr.2_5'Flank|THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_RNA	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	22	THAP-type.						DNA binding|metal ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	5		Hepatocellular(203;0.114)																---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96140365	96140365	+	Missense_Mutation	SNP	T	C	C	rs147587723	byFrequency	TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96140365T>C	uc003htp.1	-	9	1554	c.1400A>G	c.(1399-1401)AAC>AGC	p.N467S	UNC5C_uc010ilc.1_Missense_Mutation_p.N486S|UNC5C_uc003htq.2_Missense_Mutation_p.N486S	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	467	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)														---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126336146	126336146	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126336146A>G	uc003ifj.3	+	5	6028	c.6028A>G	c.(6028-6030)AGT>GGT	p.S2010G	FAT4_uc011cgp.1_Missense_Mutation_p.S308G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2010	Cadherin 19.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
SLC12A7	10723	broad.mit.edu	37	5	1057578	1057578	+	Intron	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1057578A>C	uc003jbu.2	-							NM_006598	NP_006589			solute carrier family 12 (potassium/chloride						potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)													---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7698445	7698445	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7698445A>C	uc003jdz.1	+	7	1134	c.1067A>C	c.(1066-1068)AAG>ACG	p.K356T	ADCY2_uc011cmo.1_Missense_Mutation_p.K176T	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	356	Cytoplasmic (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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7																		---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33588882	33588882	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33588882G>A	uc003jia.1	-	18	2850	c.2687C>T	c.(2686-2688)GCG>GTG	p.A896V	ADAMTS12_uc010iuq.1_Missense_Mutation_p.A811V	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	896	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9															HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
UGT3A1	133688	broad.mit.edu	37	5	35991293	35991293	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35991293A>G	uc003jjv.1	-	1	207	c.50T>C	c.(49-51)GTC>GCC	p.V17A	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.V17A|UGT3A1_uc011cor.1_Missense_Mutation_p.V17A|UGT3A1_uc003jjy.1_Intron	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	17						integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37292998	37292998	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37292998T>G	uc003jku.1	-	34	4138	c.4020A>C	c.(4018-4020)CAA>CAC	p.Q1340H	NUP155_uc003jkt.1_Missense_Mutation_p.Q1281H|NUP155_uc010iuz.1_Missense_Mutation_p.Q1276H	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	1340					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
DAB2	1601	broad.mit.edu	37	5	39381699	39381699	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39381699A>C	uc003jlx.2	-	11	1892	c.1361T>G	c.(1360-1362)CTT>CGT	p.L454R	DAB2_uc003jlw.2_Missense_Mutation_p.L433R	NM_001343	NP_001334	P98082	DAB2_HUMAN	disabled homolog 2	454					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			kidney(2)|skin(1)	3	all_lung(31;0.000197)		Epithelial(62;0.137)															---	---	---	---
IPO11	51194	broad.mit.edu	37	5	61747732	61747732	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:61747732T>G	uc003jtc.2	+	5	678	c.488T>G	c.(487-489)CTT>CGT	p.L163R	IPO11_uc011cqr.1_Missense_Mutation_p.L203R|IPO11_uc003jtb.1_Missense_Mutation_p.L163R	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	163						cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)														---	---	---	---
MCC	4163	broad.mit.edu	37	5	112478959	112478959	+	Silent	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112478959C>T	uc003kqj.3	-	3	800	c.270G>A	c.(268-270)GCG>GCA	p.A90A	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Silent_p.A280A|MCC_uc011cwb.1_Silent_p.A90A|MCC_uc010jcd.1_Silent_p.A52A	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	90					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)														---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140208881	140208881	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140208881A>G	uc003lho.2	+	1	1232	c.1205A>G	c.(1204-1206)AAG>AGG	p.K402R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.K402R|PCDHA6_uc011dab.1_Missense_Mutation_p.K402R	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	402	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
JAKMIP2	9832	broad.mit.edu	37	5	147040689	147040689	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147040689A>G	uc003loq.1	-	3	831	c.449T>C	c.(448-450)CTT>CCT	p.L150P	JAKMIP2_uc011dbx.1_Missense_Mutation_p.L108P|JAKMIP2_uc003lor.1_Missense_Mutation_p.L150P|uc003lop.1_3'UTR|JAKMIP2_uc010jgo.1_Missense_Mutation_p.L150P	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein	150	Potential.					Golgi apparatus				large_intestine(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147480060	147480060	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147480060T>C	uc003lox.2	+	13	1209	c.1136T>C	c.(1135-1137)CTT>CCT	p.L379P	SPINK5_uc010jgs.1_Missense_Mutation_p.L351P|SPINK5_uc010jgr.2_Missense_Mutation_p.L360P|SPINK5_uc003low.2_Missense_Mutation_p.L379P|SPINK5_uc003loy.2_Missense_Mutation_p.L379P	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	379	Kazal-like 6.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
FOXI1	2299	broad.mit.edu	37	5	169535259	169535259	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169535259A>G	uc003mai.3	+	2	826	c.781A>G	c.(781-783)ACC>GCC	p.T261A	FOXI1_uc003maj.3_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	261					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											Pendred_syndrome				---	---	---	---
CDYL	9425	broad.mit.edu	37	6	4892402	4892402	+	Silent	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:4892402C>T	uc003mwi.2	+	4	773	c.642C>T	c.(640-642)AGC>AGT	p.S214S	CDYL_uc003mwj.2_Silent_p.S160S|CDYL_uc003mwk.2_Intron|CDYL_uc011dhx.1_Silent_p.S28S|CDYL_uc011dhy.1_Silent_p.S28S	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y chromosome-like isoform	214					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity				0	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)														---	---	---	---
HIST1H1E	3008	broad.mit.edu	37	6	26156698	26156698	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26156698C>T	uc003ngq.2	+	1	140	c.80C>T	c.(79-81)TCT>TTT	p.S27F	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	27					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2																		---	---	---	---
C6orf25	80739	broad.mit.edu	37	6	31691171	31691171	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31691171T>C	uc011doc.1	+	1	11	c.11T>C	c.(10-12)TTT>TCT	p.F4S	LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.F4S|C6orf25_uc011dod.1_Missense_Mutation_p.F4S|C6orf25_uc011doe.1_Missense_Mutation_p.F4S|C6orf25_uc003nwo.2_Missense_Mutation_p.F4S|C6orf25_uc003nwn.2_Missense_Mutation_p.F4S	NM_138272	NP_612116	O95866	G6B_HUMAN	G6B protein isoform G6b-B precursor	4						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity				0																		---	---	---	---
MRPS18A	55168	broad.mit.edu	37	6	43648822	43648822	+	Intron	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43648822T>G	uc003ovy.1	-						MRPS18A_uc003ovz.1_Intron|MRPS18A_uc003owa.1_Intron|MRPS18A_uc010jyw.2_Intron	NM_018135	NP_060605			mitochondrial ribosomal protein S18A precursor						translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)															---	---	---	---
TINAG	27283	broad.mit.edu	37	6	54191625	54191625	+	Missense_Mutation	SNP	T	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:54191625T>A	uc003pcj.2	+	4	681	c.535T>A	c.(535-537)TTT>ATT	p.F179I	TINAG_uc010jzt.2_RNA	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	179					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			ovary(3)|central_nervous_system(1)	4	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)															---	---	---	---
HMGCLL1	54511	broad.mit.edu	37	6	55406891	55406891	+	Missense_Mutation	SNP	T	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:55406891T>A	uc003pcn.2	-	3	405	c.246A>T	c.(244-246)GAA>GAT	p.E82D	HMGCLL1_uc003pco.2_Missense_Mutation_p.E52D|HMGCLL1_uc010jzx.2_Translation_Start_Site|HMGCLL1_uc011dxc.1_Missense_Mutation_p.E52D|HMGCLL1_uc011dxd.1_Missense_Mutation_p.E52D|HMGCLL1_uc011dxe.1_Missense_Mutation_p.E52D|HMGCLL1_uc003pcp.2_Missense_Mutation_p.E52D	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-Coenzyme A	82							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			skin(2)|ovary(1)|pancreas(1)	4	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)															---	---	---	---
BAI3	577	broad.mit.edu	37	6	70042852	70042852	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70042852T>C	uc003pev.3	+	24	3588	c.3140T>C	c.(3139-3141)CTT>CCT	p.L1047P	BAI3_uc010kak.2_Missense_Mutation_p.L1047P|BAI3_uc011dxx.1_Missense_Mutation_p.L253P|BAI3_uc003pex.1_Missense_Mutation_p.L177P	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1047	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88173942	88173942	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88173942T>G	uc003plv.2	+	13	1935	c.1843T>G	c.(1843-1845)TTA>GTA	p.L615V	SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Missense_Mutation_p.L427V|C6orf165_uc010kbv.1_RNA	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	hypothetical protein LOC154313 isoform 1	615										central_nervous_system(1)	1		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)														---	---	---	---
C6orf167	253714	broad.mit.edu	37	6	97626443	97626443	+	Missense_Mutation	SNP	T	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:97626443T>A	uc003ppb.2	-	18	2821	c.2555A>T	c.(2554-2556)CAG>CTG	p.Q852L	C6orf167_uc011eaf.1_Missense_Mutation_p.Q812L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	852					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)														---	---	---	---
MICAL1	64780	broad.mit.edu	37	6	109766483	109766483	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109766483C>T	uc003ptj.2	-	21	3052	c.2798G>A	c.(2797-2799)CGG>CAG	p.R933Q	MICAL1_uc003ptk.2_Missense_Mutation_p.R933Q|MICAL1_uc010kdr.2_Missense_Mutation_p.R847Q|MICAL1_uc011eaq.1_Missense_Mutation_p.R952Q	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	933	Potential.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)														---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118556704	118556704	+	Silent	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:118556704A>C	uc003pxx.3	+	3	583	c.382A>C	c.(382-384)AGA>CGA	p.R128R		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	128					transport	integral to membrane				breast(1)	1				GBM - Glioblastoma multiforme(226;0.217)														---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599544	136599544	+	Nonsense_Mutation	SNP	G	A	A	rs140155621	byFrequency	TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136599544G>A	uc003qgx.1	-	4	728	c.475C>T	c.(475-477)CGA>TGA	p.R159*	BCLAF1_uc003qgw.1_Nonsense_Mutation_p.R159*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.R157*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.R157*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	159					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144844177	144844177	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144844177T>G	uc003qkt.2	+	40	5851	c.5759T>G	c.(5758-5760)CTT>CGT	p.L1920R		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1920	Spectrin 13.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152809633	152809633	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152809633T>G	uc010kiw.2	-	12	1547	c.945A>C	c.(943-945)GAA>GAC	p.E315D	SYNE1_uc003qot.3_Missense_Mutation_p.E322D|SYNE1_uc003qou.3_Missense_Mutation_p.E315D|SYNE1_uc010kjb.1_Missense_Mutation_p.E298D|SYNE1_uc003qpa.1_Missense_Mutation_p.E315D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	315	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11676525	11676525	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11676525C>T	uc003ssf.3	-	2	506	c.254G>A	c.(253-255)TGG>TAG	p.W85*		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	85	TSP type-1 1.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)											HNSCC(18;0.044)			---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31682809	31682809	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31682809T>G	uc003tcj.1	+	11	2818	c.1825T>G	c.(1825-1827)TTC>GTC	p.F609V	CCDC129_uc011kad.1_Missense_Mutation_p.F619V|CCDC129_uc003tci.1_Missense_Mutation_p.F460V|CCDC129_uc011kae.1_Missense_Mutation_p.F635V|CCDC129_uc003tck.1_Missense_Mutation_p.F517V	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	609											0																		---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42005998	42005998	+	Silent	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:42005998C>T	uc011kbh.1	-	15	2764	c.2673G>A	c.(2671-2673)GTG>GTA	p.V891V	GLI3_uc011kbg.1_Silent_p.V832V	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	891					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19														Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				---	---	---	---
ZNF117	51351	broad.mit.edu	37	7	64452191	64452191	+	5'Flank	SNP	A	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:64452191A>T	uc003ttr.2	-						ZNF117_uc011kdr.1_Missense_Mutation_p.L402H	NM_015852	NP_056936			zinc finger protein 117							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Lung NSC(55;0.0295)|all_lung(88;0.0691)																---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96651605	96651605	+	Nonsense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96651605A>C	uc003uon.2	-	2	640	c.432T>G	c.(430-432)TAT>TAG	p.Y144*	DLX5_uc011kim.1_Nonsense_Mutation_p.Y144*	NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	144	Homeobox.				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)																	---	---	---	---
LRRC17	10234	broad.mit.edu	37	7	102574465	102574465	+	Silent	SNP	G	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102574465G>T	uc003vau.2	+	2	494	c.105G>T	c.(103-105)GCG>GCT	p.A35A	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_Silent_p.A35A	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	35					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1																		---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111640575	111640575	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:111640575A>G	uc003vfx.2	-	3	405	c.136T>C	c.(136-138)TTT>CTT	p.F46L	DOCK4_uc003vfy.2_Missense_Mutation_p.F46L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.F46L|DOCK4_uc003vgb.1_5'UTR	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	46	SH3.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)																---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157931083	157931083	+	Missense_Mutation	SNP	A	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:157931083A>T	uc003wno.2	-	7	1156	c.1035T>A	c.(1033-1035)CAT>CAA	p.H345Q	PTPRN2_uc003wnp.2_Missense_Mutation_p.H328Q|PTPRN2_uc003wnq.2_Missense_Mutation_p.H345Q|PTPRN2_uc003wnr.2_Missense_Mutation_p.H307Q|PTPRN2_uc011kwa.1_Missense_Mutation_p.H368Q	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	345	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2823471	2823471	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2823471T>G	uc011kwk.1	-	59	9499	c.9109A>C	c.(9109-9111)AGT>CGT	p.S3037R	CSMD1_uc011kwj.1_Missense_Mutation_p.S2366R|CSMD1_uc010lrg.2_Intron	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3037	Extracellular (Potential).|Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10466216	10466216	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10466216T>G	uc003wtc.2	-	4	5621	c.5392A>C	c.(5392-5394)AGT>CGT	p.S1798R		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1798					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---
TUSC3	7991	broad.mit.edu	37	8	15480646	15480646	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:15480646T>G	uc003wwt.2	+	2	406	c.196T>G	c.(196-198)TTC>GTC	p.F66V	TUSC3_uc003wwr.2_Missense_Mutation_p.F66V|TUSC3_uc003wws.2_Missense_Mutation_p.F66V|TUSC3_uc003wwu.2_Missense_Mutation_p.F66V|TUSC3_uc003wwv.2_Missense_Mutation_p.F66V|TUSC3_uc003www.2_Missense_Mutation_p.F66V|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.F66V	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	66					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)														---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61655158	61655158	+	Silent	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61655158T>G	uc003xue.2	+	2	1644	c.1167T>G	c.(1165-1167)ACT>ACG	p.T389T		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	389	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---
CYP7B1	9420	broad.mit.edu	37	8	65527645	65527645	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:65527645T>G	uc003xvj.2	-	4	1199	c.995A>C	c.(994-996)AAG>ACG	p.K332T		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	332					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)																---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73848300	73848300	+	Missense_Mutation	SNP	A	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73848300A>T	uc003xzb.2	+	3	1298	c.710A>T	c.(709-711)GAG>GTG	p.E237V		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	237	Helical; Name=Segment S2; (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)															---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77616403	77616403	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77616403T>C	uc003yav.2	+	2	467	c.80T>C	c.(79-81)CTT>CCT	p.L27P	ZFHX4_uc003yat.1_Missense_Mutation_p.L27P|ZFHX4_uc003yau.1_Missense_Mutation_p.L27P|ZFHX4_uc003yaw.1_Missense_Mutation_p.L27P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	27						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---
TMEM55A	55529	broad.mit.edu	37	8	92030645	92030645	+	Silent	SNP	C	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92030645C>G	uc003yes.2	-	4	685	c.459G>C	c.(457-459)GTG>GTC	p.V153V		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	153						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity				0			BRCA - Breast invasive adenocarcinoma(11;0.033)															---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	105263871	105263871	+	Silent	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:105263871T>G	uc003yls.2	+	28	4168	c.3927T>G	c.(3925-3927)TCT>TCG	p.S1309S	RIMS2_uc003ylp.2_Silent_p.S1291S|RIMS2_uc003ylq.2_Silent_p.S1105S|RIMS2_uc003ylr.2_Silent_p.S1130S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1353	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)												HNSCC(12;0.0054)			---	---	---	---
ANGPT1	284	broad.mit.edu	37	8	108264166	108264166	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:108264166T>C	uc003ymn.2	-	9	1882	c.1414A>G	c.(1414-1416)AAT>GAT	p.N472D	ANGPT1_uc011lhv.1_Missense_Mutation_p.N272D|ANGPT1_uc003ymo.2_Missense_Mutation_p.N471D	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	472	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)															---	---	---	---
TG	7038	broad.mit.edu	37	8	133913802	133913802	+	Intron	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133913802A>C	uc003ytw.2	+						TG_uc010mdw.2_Intron	NM_003235	NP_003226			thyroglobulin precursor						hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)														---	---	---	---
ZNF34	80778	broad.mit.edu	37	8	145998889	145998889	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145998889T>C	uc003zdy.3	-	6	1547	c.1445A>G	c.(1444-1446)AAG>AGG	p.K482R	ZNF34_uc010mgb.2_Missense_Mutation_p.K379R|ZNF34_uc003zdx.3_Missense_Mutation_p.K461R	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	482	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)														---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8341129	8341129	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8341129C>A	uc003zkk.2	-	40	5798	c.5087G>T	c.(5086-5088)GGA>GTA	p.G1696V	PTPRD_uc003zkp.2_Missense_Mutation_p.G1290V|PTPRD_uc003zkq.2_Missense_Mutation_p.G1289V|PTPRD_uc003zkr.2_Missense_Mutation_p.G1280V|PTPRD_uc003zks.2_Missense_Mutation_p.G1289V|PTPRD_uc003zkl.2_Missense_Mutation_p.G1687V|PTPRD_uc003zkm.2_Missense_Mutation_p.G1683V|PTPRD_uc003zkn.2_Missense_Mutation_p.G1285V|PTPRD_uc003zko.2_Missense_Mutation_p.G1286V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1696	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8341954	8341954	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8341954G>T	uc003zkk.2	-	39	5397	c.4686C>A	c.(4684-4686)TGC>TGA	p.C1562*	PTPRD_uc003zkp.2_Nonsense_Mutation_p.C1156*|PTPRD_uc003zkq.2_Nonsense_Mutation_p.C1155*|PTPRD_uc003zkr.2_Nonsense_Mutation_p.C1146*|PTPRD_uc003zks.2_Nonsense_Mutation_p.C1155*|PTPRD_uc003zkl.2_Nonsense_Mutation_p.C1553*|PTPRD_uc003zkm.2_Nonsense_Mutation_p.C1549*|PTPRD_uc003zkn.2_Nonsense_Mutation_p.C1151*|PTPRD_uc003zko.2_Nonsense_Mutation_p.C1152*	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1562	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19346825	19346825	+	Missense_Mutation	SNP	A	C	C	rs144390071	byFrequency	TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19346825A>C	uc003znq.2	+	18	3236	c.3203A>C	c.(3202-3204)AAA>ACA	p.K1068T	DENND4C_uc011lnc.1_Missense_Mutation_p.K398T|DENND4C_uc011lnd.1_Missense_Mutation_p.K356T|DENND4C_uc003znr.2_Missense_Mutation_p.K356T|DENND4C_uc003zns.2_Missense_Mutation_p.K250T|DENND4C_uc003znt.2_Missense_Mutation_p.K250T	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1068						integral to membrane				ovary(1)|skin(1)	2																		---	---	---	---
ZNF322B	387328	broad.mit.edu	37	9	99961628	99961628	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99961628A>C	uc004axd.1	-	1	283	c.166T>G	c.(166-168)TTA>GTA	p.L56V	uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron	NM_199005	NP_945356			zinc finger protein 322B												0		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
ALAD	210	broad.mit.edu	37	9	116155727	116155727	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116155727G>A	uc011lxf.1	-	2	315	c.113C>T	c.(112-114)ACG>ATG	p.T38M	ALAD_uc011lxe.1_Missense_Mutation_p.T38M|ALAD_uc004bhl.3_Missense_Mutation_p.R12C	NM_000031	NP_000022	P13716	HEM2_HUMAN	delta-aminolevulinic acid dehydratase	38					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding				0					Aminolevulinic acid(DB00855)													---	---	---	---
DBC1	1620	broad.mit.edu	37	9	121976287	121976287	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:121976287A>G	uc004bkc.2	-	6	1288	c.832T>C	c.(832-834)TGC>CGC	p.C278R	DBC1_uc004bkd.2_Missense_Mutation_p.C278R	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	278					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8																		---	---	---	---
WDR34	89891	broad.mit.edu	37	9	131397120	131397120	+	Silent	SNP	C	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131397120C>A	uc004bvq.1	-	7	1186	c.1062G>T	c.(1060-1062)ACG>ACT	p.T354T	WDR34_uc004bvs.1_Silent_p.T345T|WDR34_uc004bvr.1_Silent_p.T326T	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	WD repeat domain 34	354						cytoplasm				central_nervous_system(2)|skin(1)	3																OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LHX3	8022	broad.mit.edu	37	9	139091542	139091542	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139091542C>T	uc004cha.2	-	3	533	c.436G>A	c.(436-438)GAA>AAA	p.E146K	LHX3_uc004cgz.2_Missense_Mutation_p.E151K	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	146					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)														---	---	---	---
AKR1C4	1109	broad.mit.edu	37	10	5242199	5242199	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5242199G>A	uc001ihw.2	+	2	173	c.140G>A	c.(139-141)CGC>CAC	p.R47H		NM_001818	NP_001809	P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	47					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			ovary(1)	1					NADH(DB00157)													---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17113494	17113494	+	Silent	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17113494T>C	uc001ioo.2	-	19	2608	c.2556A>G	c.(2554-2556)CAA>CAG	p.Q852Q		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	852	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
ARMC3	219681	broad.mit.edu	37	10	23292249	23292249	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:23292249A>C	uc001irm.3	+	13	1720	c.1637A>C	c.(1636-1638)AAG>ACG	p.K546T	ARMC3_uc010qcv.1_Missense_Mutation_p.K546T|ARMC3_uc010qcw.1_Missense_Mutation_p.K283T	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	546							binding				0																		---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582808	55582808	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55582808T>C	uc001jju.1	-	33	5073	c.4678A>G	c.(4678-4680)AGT>GGT	p.S1560G	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.S1557G|PCDH15_uc010qhw.1_Missense_Mutation_p.S1520G|PCDH15_uc010qhx.1_Missense_Mutation_p.S1491G|PCDH15_uc010qhy.1_Missense_Mutation_p.S1567G|PCDH15_uc010qhz.1_Missense_Mutation_p.S1562G|PCDH15_uc010qia.1_Missense_Mutation_p.S1540G|PCDH15_uc010qib.1_Missense_Mutation_p.S1537G	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1560	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---
NRG3	10718	broad.mit.edu	37	10	84711261	84711261	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:84711261T>G	uc001kco.2	+	5	1118	c.1091T>G	c.(1090-1092)ATT>AGT	p.I364S	NRG3_uc010qlz.1_Missense_Mutation_p.I363S|NRG3_uc001kcp.2_Missense_Mutation_p.I143S|NRG3_uc001kcq.2_Missense_Mutation_p.I14S|NRG3_uc001kcr.2_Missense_Mutation_p.I14S	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	364	Helical; Note=Internal signal sequence; (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)														---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129900854	129900854	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129900854G>A	uc001lke.2	-	13	9445	c.9250C>T	c.(9250-9252)CCT>TCT	p.P3084S	MKI67_uc001lkf.2_Missense_Mutation_p.P2724S|MKI67_uc009yav.1_Missense_Mutation_p.P2659S|MKI67_uc009yaw.1_Missense_Mutation_p.P2234S	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	3084					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
OR51T1	401665	broad.mit.edu	37	11	4904025	4904025	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4904025A>G	uc010qyp.1	+	1	977	c.977A>G	c.(976-978)AAG>AGG	p.K326R		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---
OR51B5	282763	broad.mit.edu	37	11	5364505	5364505	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5364505A>G	uc001map.1	-	1	250	c.250T>C	c.(250-252)TGG>CGG	p.W84R	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.W84R	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
CNGA4	1262	broad.mit.edu	37	11	6265440	6265440	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6265440A>C	uc001mco.2	+	6	1636	c.1529A>C	c.(1528-1530)AAG>ACG	p.K510T	CNGA4_uc010raa.1_3'UTR|CNGA4_uc001mcn.2_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	510	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20077343	20077343	+	Silent	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20077343C>T	uc010rdm.1	+	20	5101	c.4740C>T	c.(4738-4740)AGC>AGT	p.S1580S	NAV2_uc001mpp.2_Silent_p.S1493S|NAV2_uc001mpr.3_Silent_p.S1557S|NAV2_uc001mpt.2_Silent_p.S606S|NAV2_uc009yhx.2_Silent_p.S621S|NAV2_uc009yhy.1_Silent_p.S519S|NAV2_uc009yhz.2_Silent_p.S202S|NAV2_uc001mpu.2_5'UTR	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1580	Ser-rich.					nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6																		---	---	---	---
GAS2	2620	broad.mit.edu	37	11	22833442	22833442	+	Silent	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22833442C>T	uc009yie.2	+	8	1128	c.822C>T	c.(820-822)ATC>ATT	p.I274I	GAS2_uc001mqm.2_Silent_p.I274I|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Silent_p.I274I	NM_001143830	NP_001137302	O43903	GAS2_HUMAN	growth arrest-specific 2	274					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				ovary(1)|skin(1)	2																		---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563186	55563186	+	Missense_Mutation	SNP	A	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55563186A>T	uc010rim.1	+	1	155	c.155A>T	c.(154-156)AAG>ATG	p.K52M		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	52	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)																---	---	---	---
OR5D14	219436	broad.mit.edu	37	11	55563610	55563610	+	Missense_Mutation	SNP	T	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55563610T>A	uc010rim.1	+	1	579	c.579T>A	c.(577-579)GAT>GAA	p.D193E		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)																---	---	---	---
OR5AP2	338675	broad.mit.edu	37	11	56409864	56409864	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56409864A>C	uc001njb.1	-	1	52	c.52T>G	c.(52-54)TTT>GTT	p.F18V		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
GPR137	56834	broad.mit.edu	37	11	64056123	64056123	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64056123T>G	uc001nzg.1	+	7	1269	c.961T>G	c.(961-963)TTC>GTC	p.F321V	GPR137_uc010rni.1_Missense_Mutation_p.F379V|GPR137_uc001nzf.2_Missense_Mutation_p.F271V|GPR137_uc001nzi.2_Missense_Mutation_p.F321V|GPR137_uc010rnj.1_Intron|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	321	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1																		---	---	---	---
SLC22A11	55867	broad.mit.edu	37	11	64329765	64329765	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64329765A>G	uc001oai.2	+	4	1053	c.679A>G	c.(679-681)AGG>GGG	p.R227G	SLC22A11_uc001oah.1_Missense_Mutation_p.E192G|SLC22A11_uc001oaj.2_Missense_Mutation_p.R227G|SLC22A11_uc009ypq.2_Missense_Mutation_p.R227G|SLC22A11_uc001oak.1_Missense_Mutation_p.R56G	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	solute carrier family 22 member 11	227	Cytoplasmic (Potential).				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2					Probenecid(DB01032)													---	---	---	---
RASGRP2	10235	broad.mit.edu	37	11	64496457	64496457	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64496457C>T	uc009ypu.2	-	15	1876	c.1649G>A	c.(1648-1650)CGC>CAC	p.R550H	RASGRP2_uc001oat.2_Missense_Mutation_p.R452H|RASGRP2_uc001oau.2_Missense_Mutation_p.R405H|RASGRP2_uc009ypv.2_Missense_Mutation_p.R550H|RASGRP2_uc009ypw.2_Missense_Mutation_p.R550H	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	550					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0																		---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89880537	89880537	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89880537A>C	uc001pdf.3	+	3	343	c.234A>C	c.(232-234)CAA>CAC	p.Q78H	NAALAD2_uc009yvx.2_Missense_Mutation_p.Q78H|NAALAD2_uc009yvy.2_Missense_Mutation_p.Q78H|NAALAD2_uc001pdd.2_Missense_Mutation_p.Q78H|NAALAD2_uc001pde.2_Missense_Mutation_p.Q78H	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	78	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)																---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103124033	103124033	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103124033A>C	uc001pho.2	+	66	10206	c.10062A>C	c.(10060-10062)CAA>CAC	p.Q3354H	DYNC2H1_uc001phn.1_Missense_Mutation_p.Q3361H|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3354	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
TTC12	54970	broad.mit.edu	37	11	113220875	113220875	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113220875C>T	uc001pnu.2	+	14	1340	c.1235C>T	c.(1234-1236)GCT>GTT	p.A412V	TTC12_uc001pnv.2_Missense_Mutation_p.A418V|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.A262V	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	412							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)														---	---	---	---
ZBTB16	7704	broad.mit.edu	37	11	114118040	114118040	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114118040A>C	uc001pop.2	+	6	2009	c.1745A>C	c.(1744-1746)AAG>ACG	p.K582T	ZBTB16_uc001poq.2_Missense_Mutation_p.K582T	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	582	C2H2-type 7.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)														---	---	---	---
BCL9L	283149	broad.mit.edu	37	11	118771672	118771672	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118771672G>A	uc001pug.2	-	6	3745	c.2780C>T	c.(2779-2781)CCG>CTG	p.P927L	BCL9L_uc009zal.2_Missense_Mutation_p.P922L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	927	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)														---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7531837	7531837	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7531837A>C	uc001qsy.2	-	9	2134	c.2108T>G	c.(2107-2109)GTT>GGT	p.V703G	CD163L1_uc010sge.1_Missense_Mutation_p.V713G	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	703	SRCR 7.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11																		---	---	---	---
LST-3TM12	338821	broad.mit.edu	37	12	21200120	21200120	+	Silent	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21200120T>G	uc010sin.1	+	7	963	c.963T>G	c.(961-963)GGT>GGG	p.G321G	SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.G368G	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN	liver-specific organic anion transporter 3TM12	321						membrane	transporter activity				0																		---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22028584	22028584	+	Intron	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22028584T>C	uc001rfi.1	-						ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Intron	NM_005691	NP_005682			ATP-binding cassette, sub-family C, member 9						defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
ALG10	84920	broad.mit.edu	37	12	34177047	34177047	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:34177047T>C	uc001rlm.2	+	2	641	c.322T>C	c.(322-324)TTC>CTC	p.F108L		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	108	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)																---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43777757	43777757	+	Silent	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:43777757T>C	uc010skx.1	-	30	4476	c.4476A>G	c.(4474-4476)GGA>GGG	p.G1492G		NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1492	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)														---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53002152	53002152	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53002152G>T	uc001sas.2	-	9	1486	c.1451C>A	c.(1450-1452)CCC>CAC	p.P484H		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	484	Tail.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54960855	54960855	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54960855T>C	uc001sgd.1	+	3	377	c.211T>C	c.(211-213)TAC>CAC	p.Y71H	PDE1B_uc010soz.1_5'UTR|PDE1B_uc010spa.1_Missense_Mutation_p.Y30H|PDE1B_uc001sgf.2_5'UTR|PDE1B_uc001sge.2_Missense_Mutation_p.Y51H|PDE1B_uc009znq.2_5'UTR	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	phosphodiesterase 1B isoform 1	71					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85449826	85449826	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85449826A>C	uc001tac.2	+	8	1366	c.1255A>C	c.(1255-1257)AAG>CAG	p.K419Q	LRRIQ1_uc001tab.1_Missense_Mutation_p.K419Q|LRRIQ1_uc001taa.1_Missense_Mutation_p.K394Q	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	419										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)														---	---	---	---
C12orf50	160419	broad.mit.edu	37	12	88388493	88388493	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88388493A>C	uc001tam.1	-	7	677	c.509T>G	c.(508-510)CTT>CGT	p.L170R	C12orf50_uc001tan.2_Missense_Mutation_p.L224R	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	170										skin(2)|ovary(1)	3																		---	---	---	---
TAOK3	51347	broad.mit.edu	37	12	118619209	118619209	+	Silent	SNP	C	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118619209C>A	uc001twx.2	-	15	1828	c.1533G>T	c.(1531-1533)CTG>CTT	p.L511L	TAOK3_uc001twv.2_Silent_p.L51L|TAOK3_uc001tww.2_Silent_p.L341L|TAOK3_uc001twy.3_Silent_p.L511L	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	511					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)															OREG0022177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130912893	130912893	+	Intron	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130912893A>G	uc001uil.2	-							NM_015347	NP_056162			RIM-binding protein 2							cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)														---	---	---	---
NALCN	259232	broad.mit.edu	37	13	101717888	101717888	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101717888T>G	uc001vox.1	-	40	4661	c.4472A>C	c.(4471-4473)AAG>ACG	p.K1491T		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1491	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	102051417	102051417	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:102051417C>T	uc001vox.1	-	2	250	c.61G>A	c.(61-63)GAT>AAT	p.D21N	NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.D21N|NALCN_uc001vpa.2_Missense_Mutation_p.D21N	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	21	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23530626	23530626	+	Missense_Mutation	SNP	C	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23530626C>A	uc001wit.3	-	17	3807	c.3479G>T	c.(3478-3480)CGA>CTA	p.R1160L	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R402L|ACIN1_uc001wiq.3_Missense_Mutation_p.R402L|ACIN1_uc001wir.3_Missense_Mutation_p.R433L|ACIN1_uc001wis.3_Missense_Mutation_p.R841L|ACIN1_uc010akg.2_Missense_Mutation_p.R1147L	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1160	Arg/Asp/Glu/Lys-rich.		R -> Q (in a colorectal cancer sample; somatic mutation).		apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.R1160Q(1)		ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)														---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33292966	33292966	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33292966T>C	uc001wrq.2	+	13	6117	c.5947T>C	c.(5947-5949)TCT>CCT	p.S1983P		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1983					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356853	42356853	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:42356853T>C	uc001wvm.2	+	3	2223	c.1025T>C	c.(1024-1026)CTT>CCT	p.L342P	LRFN5_uc010ana.2_Missense_Mutation_p.L342P	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	342	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)											HNSCC(30;0.082)			---	---	---	---
SIX6	4990	broad.mit.edu	37	14	60976152	60976152	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60976152G>T	uc001xfa.3	+	1	215	c.36G>T	c.(34-36)CAG>CAT	p.Q12H		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	12					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)														---	---	---	---
ACTN1	87	broad.mit.edu	37	14	69349291	69349291	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:69349291G>A	uc001xkl.2	-	16	2147	c.1837C>T	c.(1837-1839)CGG>TGG	p.R613W	ACTN1_uc001xkk.2_Missense_Mutation_p.R209W|ACTN1_uc010ttb.1_Missense_Mutation_p.R548W|ACTN1_uc001xkm.2_Missense_Mutation_p.R613W|ACTN1_uc001xkn.2_Missense_Mutation_p.R613W|ACTN1_uc010ttc.1_Missense_Mutation_p.R198W	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	613	Interaction with DDN.|Spectrin 3.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)														---	---	---	---
HHIPL1	84439	broad.mit.edu	37	14	100123443	100123443	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100123443G>A	uc010avs.2	+	3	1074	c.1009G>A	c.(1009-1011)GGA>AGA	p.G337R	HHIPL1_uc001ygl.1_Missense_Mutation_p.G337R	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	HHIP-like protein 1 isoform a	337					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			skin(2)	2		Melanoma(154;0.128)																---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106622096	106622096	+	RNA	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106622096T>G	uc010tyt.1	-	1113		c.25550A>C								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106667790	106667790	+	RNA	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106667790A>C	uc010tyt.1	-	877		c.22075T>G								Parts of antibodies, mostly variable regions.												0																		---	---	---	---
SECISBP2L	9728	broad.mit.edu	37	15	49303966	49303966	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49303966A>C	uc001zxe.1	-	13	1960	c.1826T>G	c.(1825-1827)TTT>TGT	p.F609C	SECISBP2L_uc001zxd.1_Missense_Mutation_p.F564C|SECISBP2L_uc010bep.1_Missense_Mutation_p.F371C	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	609										breast(1)|skin(1)	2																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62254098	62254098	+	Intron	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62254098G>A	uc002agz.2	-						VPS13C_uc002aha.2_Intron|VPS13C_uc002ahb.1_Intron|VPS13C_uc002ahc.1_Intron	NM_020821	NP_065872			vacuolar protein sorting 13C protein isoform 2A						protein localization					ovary(2)	2																		---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85619125	85619125	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85619125C>T	uc002blh.2	+	4	656	c.467C>T	c.(466-468)ACA>ATA	p.T156I	PDE8A_uc002bli.2_Missense_Mutation_p.T156I|PDE8A_uc010bnc.2_5'UTR|PDE8A_uc010bnd.2_5'UTR|PDE8A_uc002blj.2_5'UTR|PDE8A_uc002blk.2_5'UTR	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	156					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)															---	---	---	---
NPRL3	8131	broad.mit.edu	37	16	160567	160567	+	Silent	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:160567C>T	uc002cfr.2	-	7	684	c.585G>A	c.(583-585)CTG>CTA	p.L195L	NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Silent_p.L16L|NPRL3_uc010uub.1_Silent_p.L170L|NPRL3_uc010uuc.1_Silent_p.L117L|NPRL3_uc002cfs.1_Silent_p.L170L	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	195							protein binding			ovary(1)	1																		---	---	---	---
A2BP1	54715	broad.mit.edu	37	16	7726770	7726770	+	Intron	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:7726770T>G	uc002cys.2	+						A2BP1_uc002cyt.2_Intron|A2BP1_uc010uxz.1_Intron|A2BP1_uc010uya.1_Intron|A2BP1_uc010uyb.1_Intron|A2BP1_uc002cyw.2_Intron|A2BP1_uc002cyy.2_Intron|A2BP1_uc002cyx.2_Intron|A2BP1_uc010uyc.1_Intron	NM_018723	NP_061193			ataxin 2-binding protein 1 isoform 4						mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)														---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15841950	15841950	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15841950G>A	uc002ddy.2	-	17	2241	c.2134C>T	c.(2134-2136)CGG>TGG	p.R712W	MYH11_uc002ddv.2_Missense_Mutation_p.R719W|MYH11_uc002ddw.2_Missense_Mutation_p.R712W|MYH11_uc002ddx.2_Missense_Mutation_p.R719W|MYH11_uc010bvg.2_Missense_Mutation_p.R544W	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	712	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15								T	CBFB	AML								---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20481029	20481029	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20481029A>G	uc010bwe.2	+	5	823	c.584A>G	c.(583-585)AAG>AGG	p.K195R	ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.K116R|ACSM2A_uc002dhf.3_Missense_Mutation_p.K195R|ACSM2A_uc002dhg.3_Missense_Mutation_p.K195R|ACSM2A_uc010vay.1_Missense_Mutation_p.K116R	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	195					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3																		---	---	---	---
NPIPL3	23117	broad.mit.edu	37	16	21416254	21416254	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21416254C>T	uc002dix.1	-	9	1185	c.1003G>A	c.(1003-1005)GCG>ACG	p.A335T	uc002diq.3_Intron|NPIPL3_uc010bws.2_Missense_Mutation_p.A335T|uc010bwt.1_RNA|NPIPL3_uc010vbg.1_Missense_Mutation_p.A316T|LOC100271836_uc002diu.1_RNA|NPIPL3_uc010bwu.1_Missense_Mutation_p.A152T	NM_130464	NP_569731	Q92617	NPPL3_HUMAN	nuclear pore complex interacting protein-like 3	335						integral to membrane					0																		---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24801035	24801035	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24801035C>T	uc002dmm.2	+	6	1186	c.1072C>T	c.(1072-1074)CCA>TCA	p.P358S	TNRC6A_uc010bxs.2_Missense_Mutation_p.P105S|TNRC6A_uc010vcc.1_Missense_Mutation_p.P105S|TNRC6A_uc002dmn.2_Missense_Mutation_p.P105S|TNRC6A_uc002dmo.2_Missense_Mutation_p.P105S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	358	Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)														---	---	---	---
C16orf92	146378	broad.mit.edu	37	16	30035099	30035099	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30035099G>A	uc002dvs.2	+	2	203	c.182G>A	c.(181-183)CGC>CAC	p.R61H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvr.2_Missense_Mutation_p.R39H	NM_001109660	NP_001103130	Q96LL3	CP092_HUMAN	hypothetical protein LOC146378 isoform 2	61						integral to membrane					0																		---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51174365	51174365	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:51174365A>G	uc010vgs.1	-	2	1799	c.1768T>C	c.(1768-1770)TCA>CCA	p.S590P	SALL1_uc010vgr.1_Missense_Mutation_p.S493P|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	590					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)															---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77325275	77325275	+	Missense_Mutation	SNP	C	T	T	rs150975249	byFrequency	TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77325275C>T	uc002ffc.3	-	21	3709	c.3290G>A	c.(3289-3291)CGT>CAT	p.R1097H		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1097	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18																		---	---	---	---
ANKFY1	51479	broad.mit.edu	37	17	4086708	4086708	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4086708G>A	uc002fxq.1	-	14	1975	c.1937C>T	c.(1936-1938)GCA>GTA	p.A646V	ANKFY1_uc002fxn.2_Missense_Mutation_p.A688V|ANKFY1_uc002fxo.2_Missense_Mutation_p.A646V|ANKFY1_uc002fxp.2_Missense_Mutation_p.A645V|ANKFY1_uc010ckp.2_Missense_Mutation_p.A587V	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	646	ANK 9.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3																		---	---	---	---
SOX15	6665	broad.mit.edu	37	17	7491725	7491725	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7491725C>G	uc002ghy.1	-	3	821	c.673G>C	c.(673-675)GGT>CGT	p.G225R	MPDU1_uc010vuc.1_Intron|SOX15_uc002ghz.1_Missense_Mutation_p.G225R	NM_006942	NP_008873	O60248	SOX15_HUMAN	SRY-box 15	225				GA -> VP (in Ref. 7; BAA78784).	chromatin organization|male gonad development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1																		---	---	---	---
PIK3R5	23533	broad.mit.edu	37	17	8791715	8791715	+	Silent	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8791715C>T	uc002glt.2	-	10	1456	c.1389G>A	c.(1387-1389)CTG>CTA	p.L463L	PIK3R5_uc010vuz.1_Silent_p.L463L|PIK3R5_uc002glu.3_Silent_p.L77L|PIK3R5_uc010coa.1_3'UTR|PIK3R5_uc010cob.1_Silent_p.L77L	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	463					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
NTN1	9423	broad.mit.edu	37	17	8926512	8926512	+	Silent	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8926512C>T	uc002glw.3	+	2	929	c.822C>T	c.(820-822)TAC>TAT	p.Y274Y		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	274	Laminin N-terminal.				apoptosis|axon guidance		protein binding				0																		---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11696975	11696975	+	Silent	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11696975T>G	uc002gne.2	+	42	8285	c.8217T>G	c.(8215-8217)ACT>ACG	p.T2739T	DNAH9_uc010coo.2_Silent_p.T2033T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	2739					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)														---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	16041498	16041498	+	Missense_Mutation	SNP	G	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16041498G>T	uc002gpo.2	-	13	1621	c.1381C>A	c.(1381-1383)CTA>ATA	p.L461I	NCOR1_uc002gpn.2_Missense_Mutation_p.L461I|NCOR1_uc002gpp.1_Missense_Mutation_p.L352I|NCOR1_uc002gpr.2_Missense_Mutation_p.L352I|NCOR1_uc002gps.1_Missense_Mutation_p.L470I|NCOR1_uc010coz.1_Missense_Mutation_p.L277I|NCOR1_uc010cpb.1_Missense_Mutation_p.L470I|NCOR1_uc010cpa.1_Missense_Mutation_p.L461I	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	461	SANT 1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---
MPRIP	23164	broad.mit.edu	37	17	17077319	17077319	+	Missense_Mutation	SNP	C	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17077319C>G	uc002gqu.1	+	18	2575	c.2519C>G	c.(2518-2520)GCG>GGG	p.A840G	MPRIP_uc002gqv.1_Missense_Mutation_p.A840G|MPRIP_uc002gqw.1_Missense_Mutation_p.A595G|MPRIP_uc002gqx.1_Missense_Mutation_p.A1069G|MPRIP_uc002gqy.1_Missense_Mutation_p.A1069G|MPRIP_uc010cpl.1_Missense_Mutation_p.A66G|MPRIP_uc010cpm.1_Missense_Mutation_p.A66G	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase-Rho interacting protein	840	Interaction with PPP1R12A.|Potential.					cytoplasm|cytoskeleton	actin binding				0																		---	---	---	---
ACOX1	51	broad.mit.edu	37	17	73945808	73945808	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73945808C>T	uc002jqf.2	-	10	1759	c.1469G>A	c.(1468-1470)CGT>CAT	p.R490H	ACOX1_uc010wsq.1_Missense_Mutation_p.R452H|ACOX1_uc002jqe.2_Missense_Mutation_p.R490H|ACOX1_uc010wsr.1_Missense_Mutation_p.R422H	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	490					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1																		---	---	---	---
LIPG	9388	broad.mit.edu	37	18	47101837	47101837	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47101837C>T	uc002ldv.2	+	5	922	c.670C>T	c.(670-672)CGT>TGT	p.R224C	LIPG_uc002ldu.1_Missense_Mutation_p.R224C|LIPG_uc010xdh.1_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	224					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2																		---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72775782	72775782	+	Silent	SNP	C	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72775782C>A	uc002llw.2	+	8	6162	c.6105C>A	c.(6103-6105)CCC>CCA	p.P2035P		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	2035					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)														---	---	---	---
DDX49	54555	broad.mit.edu	37	19	19032555	19032555	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19032555T>C	uc002nkq.1	+	3	380	c.323T>C	c.(322-324)ATG>ACG	p.M108T	COPE_uc002nkk.2_5'Flank|COPE_uc002nkl.2_5'Flank|COPE_uc002nkm.2_5'Flank|COPE_uc002nkn.2_5'Flank|HOMER3_uc002nko.1_Intron|HOMER3_uc002nkp.1_Intron|DDX49_uc002nkr.1_RNA|DDX49_uc002nks.1_Missense_Mutation_p.M1T|DDX49_uc002nkt.1_5'Flank	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	108	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1			Epithelial(12;0.0289)															---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22574432	22574432	+	Silent	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22574432T>C	uc002nqt.2	-	4	1727	c.1605A>G	c.(1603-1605)AGA>AGG	p.R535R		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	535	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)																---	---	---	---
ZNF98	148198	broad.mit.edu	37	19	22574473	22574473	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22574473C>T	uc002nqt.2	-	4	1686	c.1564G>A	c.(1564-1566)GAA>AAA	p.E522K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	522	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)																---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40361014	40361014	+	Missense_Mutation	SNP	G	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40361014G>C	uc002omp.3	-	33	15402	c.15394C>G	c.(15394-15396)CGC>GGC	p.R5132G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	5132	Cys-rich.|TIL 12.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40382289	40382289	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40382289A>C	uc002omp.3	-	22	10605	c.10597T>G	c.(10597-10599)TTC>GTC	p.F3533V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	3533						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56243743	56243743	+	Missense_Mutation	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56243743T>C	uc002qly.2	-	2	1482	c.1454A>G	c.(1453-1455)CAA>CGA	p.Q485R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	485						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)														---	---	---	---
ZNF419	79744	broad.mit.edu	37	19	58004370	58004370	+	Missense_Mutation	SNP	A	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58004370A>T	uc002qov.2	+	5	685	c.445A>T	c.(445-447)AGT>TGT	p.S149C	ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.S150C|ZNF419_uc010etz.1_Missense_Mutation_p.S137C|ZNF419_uc010eua.1_Missense_Mutation_p.S136C|ZNF419_uc002qow.2_Missense_Mutation_p.S117C|ZNF419_uc010eub.1_Missense_Mutation_p.S104C|ZNF419_uc010euc.1_Missense_Mutation_p.S103C	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)														---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62046252	62046252	+	Intron	SNP	C	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62046252C>A	uc002yey.1	-						KCNQ2_uc002yez.1_Intron|KCNQ2_uc002yfa.1_Intron|KCNQ2_uc002yfb.1_Intron	NM_172107	NP_742105			potassium voltage-gated channel KQT-like protein						axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)													---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40608669	40608669	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40608669C>T	uc002yxk.1	-	23	2757	c.2618G>A	c.(2617-2619)GGC>GAC	p.G873D	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.G873D|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.G326D|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.G549D	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)																---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41725381	41725381	+	Intron	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41725381G>A	uc002yyq.1	-						DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380			Down syndrome cell adhesion molecule isoform						cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)																---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12940244	12940244	+	Missense_Mutation	SNP	C	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12940244C>T	uc004cve.2	+	2	3153	c.3085C>T	c.(3085-3087)CGG>TGG	p.R1029W	TLR8_uc004cvd.2_Missense_Mutation_p.R1047W	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	1029	Cytoplasmic (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7																		---	---	---	---
MAGEB6	158809	broad.mit.edu	37	X	26212865	26212865	+	Missense_Mutation	SNP	G	A	A			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26212865G>A	uc004dbr.2	+	2	1051	c.902G>A	c.(901-903)TGT>TAT	p.C301Y	MAGEB6_uc010ngc.1_Missense_Mutation_p.C81Y	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	301	MAGE.									ovary(3)	3																		---	---	---	---
DMD	1756	broad.mit.edu	37	X	32361246	32361246	+	Intron	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32361246A>C	uc004dda.1	-						DMD_uc004dcw.2_Intron|DMD_uc004dcx.2_Intron|DMD_uc004dcz.2_Intron|DMD_uc004dcy.1_Intron|DMD_uc004ddb.1_Intron|DMD_uc010ngo.1_Intron	NM_004006	NP_003997			dystrophin Dp427m isoform						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
DMD	1756	broad.mit.edu	37	X	32430014	32430014	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:32430014T>G	uc004dda.1	-	30	4332	c.4088A>C	c.(4087-4089)AAG>ACG	p.K1363T	DMD_uc004dcw.2_Missense_Mutation_p.K19T|DMD_uc004dcx.2_Missense_Mutation_p.K22T|DMD_uc004dcz.2_Missense_Mutation_p.K1240T|DMD_uc004dcy.1_Missense_Mutation_p.K1359T|DMD_uc004ddb.1_Missense_Mutation_p.K1355T|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1363	Spectrin 9.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)																---	---	---	---
NRK	203447	broad.mit.edu	37	X	105132295	105132295	+	Missense_Mutation	SNP	A	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105132295A>C	uc004emd.2	+	5	564	c.261A>C	c.(259-261)GAA>GAC	p.E87D	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	87	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14															HNSCC(51;0.14)			---	---	---	---
NRK	203447	broad.mit.edu	37	X	105189886	105189886	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105189886A>G	uc004emd.2	+	25	4385	c.4082A>G	c.(4081-4083)GAC>GGC	p.D1361G	NRK_uc011msi.1_5'Flank	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1361	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14															HNSCC(51;0.14)			---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106110054	106110054	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106110054A>G	uc004emo.2	+	17	2855	c.2690A>G	c.(2689-2691)GAG>GGG	p.E897G	MORC4_uc004emp.3_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	897						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109695009	109695009	+	Silent	SNP	G	T	T			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109695009G>T	uc004eor.1	+	3	1410	c.1164G>T	c.(1162-1164)CCG>CCT	p.P388P	RGAG1_uc011msr.1_Silent_p.P388P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	388										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---
CDR1	1038	broad.mit.edu	37	X	139866175	139866175	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139866175T>G	uc004fbg.1	-	1	549	c.357A>C	c.(355-357)GAA>GAC	p.E119D	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	119	23 X 6 AA approximate repeats.|20.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)																---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140995251	140995251	+	Missense_Mutation	SNP	T	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140995251T>G	uc004fbt.2	+	4	2347	c.2061T>G	c.(2059-2061)GAT>GAG	p.D687E	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	687							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(15;0.026)			---	---	---	---
MAGEC2	51438	broad.mit.edu	37	X	141290853	141290853	+	Silent	SNP	T	C	C			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:141290853T>C	uc004fbu.1	-	3	1269	c.921A>G	c.(919-921)TCA>TCG	p.S307S		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	307	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(46;0.14)			---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148797474	148797474	+	Missense_Mutation	SNP	A	G	G			TCGA-D7-6818-01	TCGA-D7-6818-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148797474A>G	uc004fdq.2	+	5	430	c.328A>G	c.(328-330)ATC>GTC	p.I110V	HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.I81V	NM_005366	NP_005357	P43364	MAGAB_HUMAN	melanoma antigen family A, 11 isoform a	110						cytoplasm|nucleus	protein binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)																	---	---	---	---
