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	dataset	MUTSIG_Significant_Genes	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
TAF1	6872	broad.mit.edu	37	X	70612518	70612519	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70612518_70612519GG>TT	uc004dzu.3	+	19	2929_2930	c.2878_2879GG>TT	c.(2878-2880)GGT>TTT	p.G960F	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.G981F|TAF1_uc004dzv.3_Missense_Mutation_p.G134F	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	960					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)																---	---	---	---	capture		Missense_Mutation	DNP	70612518	70612519	16034	23	GG	TT	TT	47	47	TAF1	TT	2	2
TDRD5	163589	broad.mit.edu	37	1	179631354	179631354	+	Frame_Shift_Del	DEL	C	-	-			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179631354delC	uc001gnf.1	+	14	2526	c.2276delC	c.(2275-2277)TCCfs	p.S759fs	TDRD5_uc010pnp.1_Frame_Shift_Del_p.S813fs|TDRD5_uc001gnh.1_Frame_Shift_Del_p.S314fs	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	759					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	179631354	179631354	16260	1	C	-	-	30	30	TDRD5	-	5	5
LRRIQ1	84125	broad.mit.edu	37	12	85459090	85459090	+	Frame_Shift_Del	DEL	G	-	-			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85459090delG	uc001tac.2	+	9	2553	c.2442delG	c.(2440-2442)CTGfs	p.L814fs	LRRIQ1_uc001tab.1_Frame_Shift_Del_p.L814fs	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	814										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	85459090	85459090	9405	12	G	-	-	47	47	LRRIQ1	-	5	5
FASTKD1	79675	broad.mit.edu	37	2	170411709	170411710	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170411709_170411710delTT	uc002uev.3	-	7	1526_1527	c.1138_1139delAA	c.(1138-1140)AAGfs	p.K380fs	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Frame_Shift_Del_p.K366fs	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	380					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	170411709	170411710	5921	2	TT	-	-	56	56	FASTKD1	-	5	5
RSPH1	89765	broad.mit.edu	37	21	43913095	43913095	+	Frame_Shift_Del	DEL	A	-	-			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43913095delA	uc002zbg.2	-	2	254	c.149delT	c.(148-150)TTCfs	p.F50fs		NM_080860	NP_543136	Q8WYR4	RSPH1_HUMAN	testis-specific gene A2	50	MORN 2.				meiosis	cytosol|nucleus				ovary(1)	1																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	43913095	43913095	14182	21	A	-	-	9	9	RSPH1	-	5	5
BSN	8927	broad.mit.edu	37	3	49693933	49693933	+	Frame_Shift_Del	DEL	C	-	-			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49693933delC	uc003cxe.3	+	5	7058	c.6944delC	c.(6943-6945)ACCfs	p.T2315fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	2315					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	49693933	49693933	1561	3	C	-	-	18	18	BSN	-	5	5
DCHS2	54798	broad.mit.edu	37	4	155411481	155411481	+	Frame_Shift_Del	DEL	C	-	-			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155411481delC	uc003inx.2	-	1	1397	c.1027delG	c.(1027-1029)GCGfs	p.A343fs	DCHS2_uc011cik.1_Frame_Shift_Del_p.A343fs	NM_001142552	NP_001136024	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 2	1312	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	155411481	155411481	4459	4	C	-	-	26	26	DCHS2	-	5	5
VPS13D	55187	broad.mit.edu	37	1	12338009	12338009	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12338009C>A	uc001atv.2	+	19	4505	c.4364C>A	c.(4363-4365)CCA>CAA	p.P1455Q	VPS13D_uc001atw.2_Missense_Mutation_p.P1455Q|VPS13D_uc001atx.2_Missense_Mutation_p.P643Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1455					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)														---	---	---	---	capture		Missense_Mutation	SNP	12338009	12338009	17759	1	C	A	A	21	21	VPS13D	A	2	2
PRAMEF2	65122	broad.mit.edu	37	1	12921302	12921302	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12921302C>A	uc001aum.1	+	4	1180	c.1093C>A	c.(1093-1095)CAA>AAA	p.Q365K		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	365	LRR 2.										0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	12921302	12921302	12872	1	C	A	A	21	21	PRAMEF2	A	2	2
SPEN	23013	broad.mit.edu	37	1	16257904	16257904	+	Silent	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16257904A>T	uc001axk.1	+	11	5373	c.5169A>T	c.(5167-5169)TCA>TCT	p.S1723S	SPEN_uc010obp.1_Silent_p.S1682S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1723					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---	capture		Silent	SNP	16257904	16257904	15550	1	A	T	T	8	8	SPEN	T	4	4
KLHDC7A	127707	broad.mit.edu	37	1	18808281	18808281	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:18808281G>A	uc001bax.2	+	1	858	c.806G>A	c.(805-807)CGA>CAA	p.R269Q	KLHDC7A_uc009vpg.2_Missense_Mutation_p.R51Q	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	269						integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	18808281	18808281	8672	1	G	A	A	37	37	KLHDC7A	A	1	1
GRIK3	2899	broad.mit.edu	37	1	37337887	37337887	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:37337887C>G	uc001caz.2	-	4	769	c.634G>C	c.(634-636)GAC>CAC	p.D212H	GRIK3_uc001cba.1_Missense_Mutation_p.D212H	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	212	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	37337887	37337887	7054	1	C	G	G	29	29	GRIK3	G	3	3
LRRIQ3	127255	broad.mit.edu	37	1	74507460	74507460	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:74507460G>T	uc001dfy.3	-	7	1347	c.1155C>A	c.(1153-1155)ATC>ATA	p.I385I	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	385										ovary(2)	2																		---	---	---	---	capture		Silent	SNP	74507460	74507460	9406	1	G	T	T	33	33	LRRIQ3	T	2	2
USP33	23032	broad.mit.edu	37	1	78207351	78207351	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78207351A>C	uc001dht.2	-	3	472	c.125T>G	c.(124-126)TTG>TGG	p.L42W	USP33_uc001dhu.2_Missense_Mutation_p.L11W|USP33_uc001dhv.2_5'Flank|USP33_uc001dhw.2_Missense_Mutation_p.L42W	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	42					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	78207351	78207351	17628	1	A	C	C	5	5	USP33	C	4	4
HFM1	164045	broad.mit.edu	37	1	91740343	91740343	+	Silent	SNP	A	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91740343A>G	uc001doa.3	-	33	3712	c.3612T>C	c.(3610-3612)AGT>AGC	p.S1204S	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Silent_p.S883S|HFM1_uc001dob.3_Silent_p.S392S|HFM1_uc010osv.1_Silent_p.S888S	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1204							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)														---	---	---	---	capture		Silent	SNP	91740343	91740343	7366	1	A	G	G	6	6	HFM1	G	4	4
AMY2B	280	broad.mit.edu	37	1	104116374	104116374	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:104116374G>T	uc001duq.2	+	6	1174	c.558G>T	c.(556-558)GAG>GAT	p.E186D	AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.E186D|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	amylase, pancreatic, alpha-2B precursor	186					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding				0		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)														---	---	---	---	capture		Missense_Mutation	SNP	104116374	104116374	598	1	G	T	T	33	33	AMY2B	T	2	2
KCND3	3752	broad.mit.edu	37	1	112525141	112525141	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112525141C>A	uc001ebu.1	-	2	688	c.208G>T	c.(208-210)GAG>TAG	p.E70*	KCND3_uc001ebv.1_Nonsense_Mutation_p.E70*	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	70	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)														---	---	---	---	capture		Nonsense_Mutation	SNP	112525141	112525141	8325	1	C	A	A	30	30	KCND3	A	5	2
PDE4DIP	9659	broad.mit.edu	37	1	144882681	144882681	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144882681T>A	uc001elw.3	-	24	3629	c.3338A>T	c.(3337-3339)CAC>CTC	p.H1113L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.H120L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1113	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---	capture		Missense_Mutation	SNP	144882681	144882681	12064	1	T	A	A	59	59	PDE4DIP	A	4	4
BNIPL	149428	broad.mit.edu	37	1	151015878	151015878	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151015878C>A	uc001ewl.2	+	6	860	c.687C>A	c.(685-687)CCC>CCA	p.P229P	BNIPL_uc009wmi.2_Silent_p.P147P|BNIPL_uc009wmj.2_RNA	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein	229	CRAL-TRIO.				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding				0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)															---	---	---	---	capture		Silent	SNP	151015878	151015878	1505	1	C	A	A	21	21	BNIPL	A	2	2
SCNM1	79005	broad.mit.edu	37	1	151139859	151139859	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151139859C>A	uc001ewz.2	+	5	479	c.367C>A	c.(367-369)CAC>AAC	p.H123N	LYSMD1_uc001ewy.2_5'Flank|LYSMD1_uc010pcr.1_5'Flank|SCNM1_uc010pcs.1_Missense_Mutation_p.H123N|SCNM1_uc009wmn.2_RNA	NM_024041	NP_076946	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	123					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)															---	---	---	---	capture		Missense_Mutation	SNP	151139859	151139859	14408	1	C	A	A	21	21	SCNM1	A	2	2
RPTN	126638	broad.mit.edu	37	1	152128280	152128280	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152128280C>T	uc001ezs.1	-	3	1360	c.1295G>A	c.(1294-1296)AGA>AAA	p.R432K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	152128280	152128280	14144	1	C	T	T	32	32	RPTN	T	2	2
RPTN	126638	broad.mit.edu	37	1	152128623	152128623	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152128623G>T	uc001ezs.1	-	3	1017	c.952C>A	c.(952-954)CAC>AAC	p.H318N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	318	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	152128623	152128623	14144	1	G	T	T	47	47	RPTN	T	2	2
NUP210L	91181	broad.mit.edu	37	1	154112355	154112355	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154112355C>A	uc001fdw.2	-	5	712	c.640G>T	c.(640-642)GGA>TGA	p.G214*	NUP210L_uc010peh.1_Nonsense_Mutation_p.G214*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	214						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)															---	---	---	---	capture		Nonsense_Mutation	SNP	154112355	154112355	11166	1	C	A	A	24	24	NUP210L	A	5	2
UBAP2L	9898	broad.mit.edu	37	1	154221727	154221727	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154221727G>T	uc001fep.3	+	12	1194	c.1027G>T	c.(1027-1029)GGG>TGG	p.G343W	UBAP2L_uc009wot.2_Missense_Mutation_p.G343W|UBAP2L_uc010pek.1_Missense_Mutation_p.G335W|UBAP2L_uc010pel.1_Missense_Mutation_p.G353W|UBAP2L_uc010pen.1_Missense_Mutation_p.G257W	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	343					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---	capture		Missense_Mutation	SNP	154221727	154221727	17395	1	G	T	T	35	35	UBAP2L	T	2	2
ATP8B2	57198	broad.mit.edu	37	1	154321553	154321553	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154321553A>T	uc001fex.2	+	28	3631	c.3631A>T	c.(3631-3633)AGT>TGT	p.S1211C		NM_020452	NP_065185	P98198	AT8B2_HUMAN	ATPase, class I, type 8B, member 2 isoform a	1197	Cytoplasmic (Potential).				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(1)|skin(1)	2	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---	capture		Missense_Mutation	SNP	154321553	154321553	1214	1	A	T	T	7	7	ATP8B2	T	4	4
GPATCH4	54865	broad.mit.edu	37	1	156568241	156568241	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156568241C>A	uc001fpm.2	-	3	179	c.140G>T	c.(139-141)AGG>ATG	p.R47M	GPATCH4_uc001fpl.2_Missense_Mutation_p.R42M	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4 isoform 1	42	G-patch.					intracellular	nucleic acid binding			ovary(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156568241	156568241	6867	1	C	A	A	24	24	GPATCH4	A	2	2
OR10R2	343406	broad.mit.edu	37	1	158450386	158450386	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158450386G>C	uc010pik.1	+	1	719	c.719G>C	c.(718-720)TGC>TCC	p.C240S	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	240	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)																	---	---	---	---	capture		Missense_Mutation	SNP	158450386	158450386	11323	1	G	C	C	46	46	OR10R2	C	3	3
SPTA1	6708	broad.mit.edu	37	1	158622411	158622411	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158622411C>T	uc001fst.1	-	23	3420	c.3221G>A	c.(3220-3222)CGC>CAC	p.R1074H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1074					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---	capture		Missense_Mutation	SNP	158622411	158622411	15630	1	C	T	T	27	27	SPTA1	T	1	1
PPOX	5498	broad.mit.edu	37	1	161140943	161140943	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161140943C>A	uc001fyj.2	+	13	1701	c.1411C>A	c.(1411-1413)CTG>ATG	p.L471M	PPOX_uc001fyn.2_Missense_Mutation_p.L179M|PPOX_uc001fyg.2_Missense_Mutation_p.L471M|PPOX_uc001fyl.2_Missense_Mutation_p.L437M|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.L309M|PPOX_uc001fyh.2_Missense_Mutation_p.L309M|PPOX_uc010pkg.1_Missense_Mutation_p.L309M|PPOX_uc009wuc.1_Missense_Mutation_p.L272M|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	471					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)											Porphyria_Variegata				---	---	---	---	capture		Missense_Mutation	SNP	161140943	161140943	12783	1	C	A	A	24	24	PPOX	A	2	2
FCGR2C	9103	broad.mit.edu	37	1	161559371	161559371	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161559371G>T	uc001gav.2	+	3	252	c.153G>T	c.(151-153)GTG>GTT	p.V51V	FCGR2C_uc009wuj.2_RNA|FCGR2C_uc009wuk.2_RNA	NM_201563	NP_963857			Fc fragment of IgG, low affinity IIc, receptor												0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---	capture		Silent	SNP	161559371	161559371	6020	1	G	T	T	46	46	FCGR2C	T	2	2
ALDH9A1	223	broad.mit.edu	37	1	165636578	165636578	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:165636578G>T	uc001gdh.1	-	9	1422	c.1317C>A	c.(1315-1317)ACC>ACA	p.T439T	ALDH9A1_uc010pky.1_Silent_p.T345T|ALDH9A1_uc010pkz.1_Silent_p.T429T	NM_000696	NP_000687	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9A1	415					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)													---	---	---	---	capture		Silent	SNP	165636578	165636578	509	1	G	T	T	47	47	ALDH9A1	T	2	2
F5	2153	broad.mit.edu	37	1	169511792	169511792	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169511792C>A	uc001ggg.1	-	13	2681	c.2536G>T	c.(2536-2538)GGG>TGG	p.G846W		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	846	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)													---	---	---	---	capture		Missense_Mutation	SNP	169511792	169511792	5542	1	C	A	A	24	24	F5	A	2	2
SELP	6403	broad.mit.edu	37	1	169563946	169563946	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169563946G>A	uc001ggi.3	-	13	2336	c.2271C>T	c.(2269-2271)ACC>ACT	p.T757T	SELP_uc001ggh.2_Silent_p.T592T|SELP_uc009wvr.2_Silent_p.T757T	NM_003005	NP_002996	P16109	LYAM3_HUMAN	selectin P precursor	757	Extracellular (Potential).|Sushi 9.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			ovary(2)|skin(2)	4	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)													---	---	---	---	capture		Silent	SNP	169563946	169563946	14505	1	G	A	A	39	39	SELP	A	1	1
SELE	6401	broad.mit.edu	37	1	169698355	169698355	+	Silent	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169698355C>T	uc001ggm.3	-	7	1219	c.1062G>A	c.(1060-1062)CAG>CAA	p.Q354Q	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	354	Extracellular (Potential).|Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)																	---	---	---	---	capture		Silent	SNP	169698355	169698355	14499	1	C	T	T	20	20	SELE	T	2	2
C1orf156	92342	broad.mit.edu	37	1	169762072	169762072	+	Silent	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169762072T>C	uc001ggn.2	-	2	1043	c.765A>G	c.(763-765)CCA>CCG	p.P255P	C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank	NM_033418	NP_219486	O95568	MET18_HUMAN	hypothetical protein MGC9084	255						cytoplasm	protein methyltransferase activity				0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---	capture		Silent	SNP	169762072	169762072	2073	1	T	C	C	63	63	C1orf156	C	4	4
DARS2	55157	broad.mit.edu	37	1	173806114	173806114	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173806114G>T	uc001gjh.1	+	8	1110	c.700G>T	c.(700-702)GGA>TGA	p.G234*		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	234					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			central_nervous_system(2)	2					L-Aspartic Acid(DB00128)													---	---	---	---	capture		Nonsense_Mutation	SNP	173806114	173806114	4409	1	G	T	T	47	47	DARS2	T	5	2
ASTN1	460	broad.mit.edu	37	1	176992585	176992585	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176992585G>T	uc001glc.2	-	7	1605	c.1393C>A	c.(1393-1395)CGG>AGG	p.R465R	ASTN1_uc001glb.1_Silent_p.R465R|ASTN1_uc001gld.1_Silent_p.R465R|ASTN1_uc009wwx.1_Silent_p.R465R|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	465	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																		---	---	---	---	capture		Silent	SNP	176992585	176992585	1083	1	G	T	T	39	39	ASTN1	T	1	1
ASTN1	460	broad.mit.edu	37	1	177001679	177001679	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177001679C>A	uc001glc.2	-	3	990	c.778G>T	c.(778-780)GGA>TGA	p.G260*	ASTN1_uc001glb.1_Nonsense_Mutation_p.G260*|ASTN1_uc001gld.1_Nonsense_Mutation_p.G260*|ASTN1_uc009wwx.1_Nonsense_Mutation_p.G260*|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	260					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																		---	---	---	---	capture		Nonsense_Mutation	SNP	177001679	177001679	1083	1	C	A	A	23	23	ASTN1	A	5	1
CACNA1E	777	broad.mit.edu	37	1	181453097	181453097	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181453097G>T	uc001gow.2	+	1	382	c.217G>T	c.(217-219)GGA>TGA	p.G73*		NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	73	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6																		---	---	---	---	capture		Nonsense_Mutation	SNP	181453097	181453097	2658	1	G	T	T	39	39	CACNA1E	T	5	1
C1orf27	54953	broad.mit.edu	37	1	186367510	186367510	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186367510G>T	uc001grw.2	+	10	1082	c.846G>T	c.(844-846)AAG>AAT	p.K282N	C1orf27_uc010poq.1_Missense_Mutation_p.K259N|C1orf27_uc010por.1_Missense_Mutation_p.K250N|OCLM_uc001gry.2_5'Flank	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	odorant response abnormal 4 isoform 1	282						integral to membrane	oxidoreductase activity|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	186367510	186367510	2110	1	G	T	T	35	35	C1orf27	T	2	2
RGS18	64407	broad.mit.edu	37	1	192153562	192153562	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:192153562G>T	uc001gsg.2	+	5	762	c.586G>T	c.(586-588)GAC>TAC	p.D196Y		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	regulator of G-protein signalling 18	196	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	192153562	192153562	13774	1	G	T	T	45	45	RGS18	T	2	2
NAV1	89796	broad.mit.edu	37	1	201757648	201757648	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201757648C>A	uc001gwu.2	+	10	3395	c.3048C>A	c.(3046-3048)CCC>CCA	p.P1016P	NAV1_uc001gwv.1_Silent_p.P524P|NAV1_uc001gww.1_Silent_p.P625P|NAV1_uc001gwx.2_Silent_p.P625P|NAV1_uc001gwy.1_Silent_p.P397P	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1016					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4																		---	---	---	---	capture		Silent	SNP	201757648	201757648	10579	1	C	A	A	21	21	NAV1	A	2	2
IL20	50604	broad.mit.edu	37	1	207039697	207039697	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207039697G>A	uc001her.2	+	2	257	c.213G>A	c.(211-213)TTG>TTA	p.L71L	IL20_uc010pry.1_Silent_p.L142L|IL20_uc009xby.2_Silent_p.L71L	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	interleukin 20 precursor	71					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding				0	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)														---	---	---	---	capture		Silent	SNP	207039697	207039697	7968	1	G	A	A	46	46	IL20	A	2	2
USH2A	7399	broad.mit.edu	37	1	216166399	216166399	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216166399G>T	uc001hku.1	-	35	7155	c.6768C>A	c.(6766-6768)TCC>TCA	p.S2256S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2256	Fibronectin type-III 9.|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)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	216166399	216166399	17598	1	G	T	T	35	35	USH2A	T	2	2
RAB3GAP2	25782	broad.mit.edu	37	1	220359061	220359061	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220359061C>T	uc010puk.1	-	18	1966	c.1802G>A	c.(1801-1803)AGT>AAT	p.S601N	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.S181N	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	601					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)														---	---	---	---	capture		Missense_Mutation	SNP	220359061	220359061	13395	1	C	T	T	20	20	RAB3GAP2	T	2	2
KCNK1	3775	broad.mit.edu	37	1	233802474	233802474	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:233802474G>T	uc010pxo.1	+	2	657	c.489G>T	c.(487-489)AGG>AGT	p.R163S	KCNK1_uc001hvw.2_RNA|KCNK1_uc001hvx.2_RNA	NM_002245	NP_002236	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	163	Cytoplasmic (Potential).					voltage-gated potassium channel complex	inward rectifier potassium channel activity			central_nervous_system(1)	1		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)													---	---	---	---	capture		Missense_Mutation	SNP	233802474	233802474	8363	1	G	T	T	42	42	KCNK1	T	2	2
LYST	1130	broad.mit.edu	37	1	235969140	235969140	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235969140G>T	uc001hxj.2	-	6	3471	c.3296C>A	c.(3295-3297)TCA>TAA	p.S1099*	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Nonsense_Mutation_p.S1099*	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	1099					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				---	---	---	---	capture		Nonsense_Mutation	SNP	235969140	235969140	9505	1	G	T	T	45	45	LYST	T	5	2
RGS7	6000	broad.mit.edu	37	1	240977014	240977014	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240977014G>A	uc001hyv.2	-	13	1190	c.860C>T	c.(859-861)ACG>ATG	p.T287M	RGS7_uc010pyh.1_Missense_Mutation_p.T261M|RGS7_uc010pyj.1_Missense_Mutation_p.T203M|RGS7_uc001hyu.2_Missense_Mutation_p.T287M|RGS7_uc009xgn.1_Missense_Mutation_p.T234M|RGS7_uc001hyw.2_Missense_Mutation_p.T287M|RGS7_uc001hyt.2_Missense_Mutation_p.T119M	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	287	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)															---	---	---	---	capture		Missense_Mutation	SNP	240977014	240977014	13784	1	G	A	A	40	40	RGS7	A	1	1
FH	2271	broad.mit.edu	37	1	241675291	241675291	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241675291G>T	uc001hyx.2	-	4	563	c.531C>A	c.(529-531)CCC>CCA	p.P177P		NM_000143	NP_000134	P07954	FUMH_HUMAN	fumarate hydratase precursor	177	B site (By similarity).				fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			lung(3)|ovary(1)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)				Mis|N|F			lieomyomatosis|renal			Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer				---	---	---	---	capture		Silent	SNP	241675291	241675291	6112	1	G	T	T	47	47	FH	T	2	2
KMO	8564	broad.mit.edu	37	1	241753535	241753535	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241753535G>T	uc009xgp.2	+	14	1295	c.1230G>T	c.(1228-1230)GAG>GAT	p.E410D	KMO_uc001hyy.2_Missense_Mutation_p.E397D|KMO_uc009xgo.1_Missense_Mutation_p.E410D	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	410					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)															---	---	---	---	capture		Missense_Mutation	SNP	241753535	241753535	8738	1	G	T	T	35	35	KMO	T	2	2
WDR64	128025	broad.mit.edu	37	1	241886728	241886728	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241886728C>A	uc001hze.1	+	9	1361	c.1154C>A	c.(1153-1155)TCC>TAC	p.S385Y	WDR64_uc001hzf.1_Missense_Mutation_p.S105Y			B1ANS9	WDR64_HUMAN	RecName: Full=WD repeat-containing protein 64;	385	WD 4.									skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)															---	---	---	---	capture		Missense_Mutation	SNP	241886728	241886728	17888	1	C	A	A	30	30	WDR64	A	2	2
SCCPDH	51097	broad.mit.edu	37	1	246890254	246890254	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246890254C>T	uc001ibr.2	+	2	598	c.251C>T	c.(250-252)TCG>TTG	p.S84L		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	84						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)														---	---	---	---	capture		Missense_Mutation	SNP	246890254	246890254	14366	1	C	T	T	31	31	SCCPDH	T	1	1
ZNF124	7678	broad.mit.edu	37	1	247320309	247320309	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247320309G>T	uc001ick.2	-	4	754	c.615C>A	c.(613-615)CCC>CCA	p.P205P	ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Silent_p.P143P	NM_003431	NP_003422	Q15973	ZN124_HUMAN	zinc finger protein 124	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)															---	---	---	---	capture		Silent	SNP	247320309	247320309	18311	1	G	T	T	35	35	ZNF124	T	2	2
VN1R5	317705	broad.mit.edu	37	1	247419455	247419455	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247419455C>A	uc010pyu.1	+	1	82	c.82C>A	c.(82-84)CTT>ATT	p.L28I		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	vomeronasal 1 receptor 5	28	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)															---	---	---	---	capture		Missense_Mutation	SNP	247419455	247419455	17748	1	C	A	A	24	24	VN1R5	A	2	2
OR2M5	127059	broad.mit.edu	37	1	248309295	248309295	+	Silent	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248309295T>C	uc010pze.1	+	1	846	c.846T>C	c.(844-846)ACT>ACC	p.T282T		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	282	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(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;0.0388)															---	---	---	---	capture		Silent	SNP	248309295	248309295	11419	1	T	C	C	54	54	OR2M5	C	4	4
OR2M3	127062	broad.mit.edu	37	1	248366447	248366447	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248366447C>A	uc010pzg.1	+	1	78	c.78C>A	c.(76-78)TTC>TTA	p.F26L		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	26	Helical; Name=1; (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)															---	---	---	---	capture		Missense_Mutation	SNP	248366447	248366447	11417	1	C	A	A	30	30	OR2M3	A	2	2
GPR158	57512	broad.mit.edu	37	10	25885705	25885705	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:25885705C>A	uc001isj.2	+	10	2192	c.2132C>A	c.(2131-2133)CCA>CAA	p.P711Q	GPR158_uc001isk.2_Missense_Mutation_p.P86Q	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	711	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	25885705	25885705	6938	10	C	A	A	21	21	GPR158	A	2	2
ARMC4	55130	broad.mit.edu	37	10	28228919	28228919	+	Silent	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28228919T>A	uc009xky.2	-	14	2102	c.2004A>T	c.(2002-2004)GCA>GCT	p.A668A	ARMC4_uc010qds.1_Silent_p.A193A|ARMC4_uc010qdt.1_Silent_p.A360A|ARMC4_uc001itz.2_Silent_p.A668A	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	668	ARM 4.|HEAT.						binding			ovary(4)|skin(2)	6																		---	---	---	---	capture		Silent	SNP	28228919	28228919	971	10	T	A	A	63	63	ARMC4	A	4	4
MPP7	143098	broad.mit.edu	37	10	28345494	28345494	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:28345494G>T	uc001iua.1	-	18	1870	c.1466C>A	c.(1465-1467)CCA>CAA	p.P489Q	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.P489Q|MPP7_uc009xla.2_Missense_Mutation_p.P489Q|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	489	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	28345494	28345494	10131	10	G	T	T	47	47	MPP7	T	2	2
ZNF33A	7581	broad.mit.edu	37	10	38344482	38344482	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38344482C>A	uc001izh.2	+	5	1605	c.1427C>A	c.(1426-1428)TCC>TAC	p.S476Y	ZNF33A_uc001izg.2_Missense_Mutation_p.S477Y|ZNF33A_uc010qev.1_Missense_Mutation_p.S483Y|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	476	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	38344482	38344482	18446	10	C	A	A	30	30	ZNF33A	A	2	2
ZNF33A	7581	broad.mit.edu	37	10	38344544	38344544	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38344544G>A	uc001izh.2	+	5	1667	c.1489G>A	c.(1489-1491)GAA>AAA	p.E497K	ZNF33A_uc001izg.2_Missense_Mutation_p.E498K|ZNF33A_uc010qev.1_Missense_Mutation_p.E504K|ZNF33A_uc001izi.1_Intron	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	zinc finger protein 33A isoform b	497	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	38344544	38344544	18446	10	G	A	A	45	45	ZNF33A	A	2	2
ZNF37A	7587	broad.mit.edu	37	10	38406785	38406785	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38406785A>T	uc001izk.2	+	8	1525	c.706A>T	c.(706-708)ACC>TCC	p.T236S	ZNF37A_uc001izl.2_Missense_Mutation_p.T236S|ZNF37A_uc001izm.2_Missense_Mutation_p.T236S	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	236						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	38406785	38406785	18464	10	A	T	T	2	2	ZNF37A	T	4	4
ZNF485	220992	broad.mit.edu	37	10	44111890	44111890	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44111890G>T	uc010qfc.1	+	5	593	c.399G>T	c.(397-399)AAG>AAT	p.K133N	ZNF485_uc010qfd.1_Missense_Mutation_p.K42N	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	133	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	44111890	44111890	18532	10	G	T	T	35	35	ZNF485	T	2	2
RASSF4	83937	broad.mit.edu	37	10	45480357	45480357	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:45480357G>A	uc001jbo.2	+	6	604	c.470G>A	c.(469-471)GGT>GAT	p.G157D	RASSF4_uc001jbp.2_Missense_Mutation_p.G188D|RASSF4_uc009xmn.2_Missense_Mutation_p.G87D|RASSF4_uc001jbq.2_Missense_Mutation_p.G54D|RASSF4_uc001jbt.2_Missense_Mutation_p.G114D	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN	Ras association domain family 4	157					cell cycle|signal transduction		protein binding			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	45480357	45480357	13549	10	G	A	A	44	44	RASSF4	A	2	2
IPMK	253430	broad.mit.edu	37	10	59986886	59986886	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:59986886G>A	uc001jkb.2	-	3	614	c.291C>T	c.(289-291)GAC>GAT	p.D97D		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	97						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	59986886	59986886	8093	10	G	A	A	36	36	IPMK	A	2	2
DNA2	1763	broad.mit.edu	37	10	70176538	70176538	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70176538C>A	uc001jof.2	-	20	3300	c.3300G>T	c.(3298-3300)CTG>CTT	p.L1100L	DNA2_uc001jog.1_Silent_p.L776L|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	1014					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0																		---	---	---	---	capture		Silent	SNP	70176538	70176538	4778	10	C	A	A	21	21	DNA2	A	2	2
USP54	159195	broad.mit.edu	37	10	75276843	75276843	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75276843C>A	uc001juo.2	-	18	3358	c.3341G>T	c.(3340-3342)AGT>ATT	p.S1114I	USP54_uc010qkk.1_Missense_Mutation_p.S296I|USP54_uc001juk.2_Missense_Mutation_p.S202I|USP54_uc001jul.2_Missense_Mutation_p.S202I|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1114					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)																	---	---	---	---	capture		Missense_Mutation	SNP	75276843	75276843	17649	10	C	A	A	20	20	USP54	A	2	2
SYNPO2L	79933	broad.mit.edu	37	10	75407222	75407222	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75407222G>T	uc001jut.3	-	4	2340	c.2188C>A	c.(2188-2190)CCA>ACA	p.P730T	SYNPO2L_uc001jus.3_Missense_Mutation_p.P506T	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	730	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)																	---	---	---	---	capture		Missense_Mutation	SNP	75407222	75407222	15979	10	G	T	T	43	43	SYNPO2L	T	2	2
MYST4	23522	broad.mit.edu	37	10	76790376	76790376	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:76790376C>A	uc001jwn.1	+	18	6287	c.5794C>A	c.(5794-5796)CTG>ATG	p.L1932M	MYST4_uc001jwo.1_Missense_Mutation_p.L1640M|MYST4_uc001jwp.1_Missense_Mutation_p.L1749M	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1932	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)							T	CREBBP	AML								---	---	---	---	capture		Missense_Mutation	SNP	76790376	76790376	10500	10	C	A	A	32	32	MYST4	A	2	2
SFTPD	6441	broad.mit.edu	37	10	81701710	81701710	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:81701710C>A	uc001kbh.2	-	5	593	c.550G>T	c.(550-552)GGG>TGG	p.G184W	MBL1P_uc001kbf.2_Intron	NM_003019	NP_003010	P35247	SFTPD_HUMAN	pulmonary surfactant-associated protein D	184	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			skin(1)	1	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)															---	---	---	---	capture		Missense_Mutation	SNP	81701710	81701710	14684	10	C	A	A	24	24	SFTPD	A	2	2
ABCC2	1244	broad.mit.edu	37	10	101604082	101604082	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101604082C>A	uc001kqf.2	+	28	3986	c.3847C>A	c.(3847-3849)CCC>ACC	p.P1283T		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	1283	Cytoplasmic (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)													---	---	---	---	capture		Missense_Mutation	SNP	101604082	101604082	54	10	C	A	A	18	18	ABCC2	A	2	2
PKD2L1	9033	broad.mit.edu	37	10	102054794	102054794	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102054794G>T	uc001kqx.1	-	8	1826	c.1443C>A	c.(1441-1443)GCC>GCA	p.A481A	PKD2L1_uc009xwm.1_Silent_p.A434A	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	481	Helical; (Potential).				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			ovary(4)	4		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)														---	---	---	---	capture		Silent	SNP	102054794	102054794	12392	10	G	T	T	39	39	PKD2L1	T	1	1
AS3MT	57412	broad.mit.edu	37	10	104638234	104638234	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104638234A>T	uc001kwk.2	+	8	849	c.709A>T	c.(709-711)ACA>TCA	p.T237S	AS3MT_uc001kwj.2_Missense_Mutation_p.T239S|AS3MT_uc009xxh.2_Missense_Mutation_p.T237S	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	237					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)														---	---	---	---	capture		Missense_Mutation	SNP	104638234	104638234	1023	10	A	T	T	14	14	AS3MT	T	4	4
C10orf81	79949	broad.mit.edu	37	10	115534637	115534637	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115534637C>A	uc001lat.1	+	9	1376	c.814C>A	c.(814-816)CAG>AAG	p.Q272K	C10orf81_uc001lar.1_Missense_Mutation_p.Q278K|C10orf81_uc009xyc.1_Missense_Mutation_p.Q190K|C10orf81_uc001las.1_Missense_Mutation_p.Q190K|C10orf81_uc001lau.1_Missense_Mutation_p.Q92K	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN	hypothetical protein LOC79949	272										central_nervous_system(1)	1		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)														---	---	---	---	capture		Missense_Mutation	SNP	115534637	115534637	1656	10	C	A	A	21	21	C10orf81	A	2	2
ADRB1	153	broad.mit.edu	37	10	115804389	115804389	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115804389C>A	uc001lba.2	+	1	584	c.498C>A	c.(496-498)TAC>TAA	p.Y166*		NM_000684	NP_000675	P08588	ADRB1_HUMAN	beta-1-adrenergic receptor	166	Cytoplasmic (By similarity).				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)													---	---	---	---	capture		Nonsense_Mutation	SNP	115804389	115804389	341	10	C	A	A	18	18	ADRB1	A	5	2
PNLIPRP1	5407	broad.mit.edu	37	10	118363606	118363606	+	Silent	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118363606T>A	uc001lco.1	+	11	1146	c.1128T>A	c.(1126-1128)GCT>GCA	p.A376A	PNLIPRP1_uc001lcp.2_Silent_p.A376A	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	376	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)														---	---	---	---	capture		Silent	SNP	118363606	118363606	12576	10	T	A	A	56	56	PNLIPRP1	A	4	4
KCNK18	338567	broad.mit.edu	37	10	118957018	118957018	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118957018C>G	uc010qsr.1	+	1	19	c.19C>G	c.(19-21)CCC>GCC	p.P7A		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	7	Cytoplasmic (Potential).					integral to membrane|plasma membrane				upper_aerodigestive_tract(1)	1		Colorectal(252;0.19)		all cancers(201;0.0211)														---	---	---	---	capture		Missense_Mutation	SNP	118957018	118957018	8370	10	C	G	G	22	22	KCNK18	G	3	3
CUZD1	50624	broad.mit.edu	37	10	124594350	124594350	+	Silent	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124594350C>T	uc001lgq.2	-	7	1586	c.1254G>A	c.(1252-1254)TTG>TTA	p.L418L	CUZD1_uc001lgp.2_Silent_p.L137L|CUZD1_uc009yad.2_Silent_p.L137L|CUZD1_uc009yaf.2_Silent_p.L52L|CUZD1_uc001lgr.2_Silent_p.L137L|CUZD1_uc010qty.1_Silent_p.L137L|CUZD1_uc009yae.2_Silent_p.L137L|CUZD1_uc001lgs.2_Silent_p.L418L|CUZD1_uc010qtz.1_Silent_p.L418L	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1 precursor	418	Extracellular (Potential).|ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				ovary(1)|skin(1)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)														---	---	---	---	capture		Silent	SNP	124594350	124594350	4226	10	C	T	T	29	29	CUZD1	T	2	2
MKI67	4288	broad.mit.edu	37	10	129902137	129902137	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129902137G>T	uc001lke.2	-	13	8162	c.7967C>A	c.(7966-7968)CCA>CAA	p.P2656Q	MKI67_uc001lkf.2_Missense_Mutation_p.P2296Q|MKI67_uc009yav.1_Missense_Mutation_p.P2231Q|MKI67_uc009yaw.1_Missense_Mutation_p.P1806Q	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2656	14.|16 X 122 AA approximate repeats.				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)																---	---	---	---	capture		Missense_Mutation	SNP	129902137	129902137	9988	10	G	T	T	47	47	MKI67	T	2	2
MKI67	4288	broad.mit.edu	37	10	129903729	129903729	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129903729C>A	uc001lke.2	-	13	6570	c.6375G>T	c.(6373-6375)TTG>TTT	p.L2125F	MKI67_uc001lkf.2_Missense_Mutation_p.L1765F|MKI67_uc009yav.1_Missense_Mutation_p.L1700F|MKI67_uc009yaw.1_Missense_Mutation_p.L1275F	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2125	16 X 122 AA approximate repeats.|10.				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)																---	---	---	---	capture		Missense_Mutation	SNP	129903729	129903729	9988	10	C	A	A	21	21	MKI67	A	2	2
SIRT3	23410	broad.mit.edu	37	11	218844	218844	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:218844C>A	uc001lok.3	-	6	1201	c.1167G>T	c.(1165-1167)CGG>CGT	p.R389R	SIRT3_uc001loj.3_Silent_p.R247R|SIRT3_uc010qvm.1_Silent_p.R325R|SIRT3_uc010qvn.1_Silent_p.R308R|SIRT3_uc010qvo.1_Silent_p.R389R|SIRT3_uc010qvp.1_Silent_p.R335R|SIRT3_uc010qvq.1_Silent_p.R247R	NM_012239	NP_036371	Q9NTG7	SIRT3_HUMAN	sirtuin 3 isoform a	389					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			urinary_tract(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)														---	---	---	---	capture		Silent	SNP	218844	218844	14834	11	C	A	A	22	22	SIRT3	A	2	2
ATHL1	80162	broad.mit.edu	37	11	292014	292014	+	Silent	SNP	A	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:292014A>G	uc010qvu.1	+	5	1060	c.945A>G	c.(943-945)CCA>CCG	p.P315P	ATHL1_uc001lor.3_Silent_p.P138P|ATHL1_uc001los.1_Silent_p.P315P|ATHL1_uc001lou.3_5'Flank|ATHL1_uc001lov.3_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	315					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---	capture		Silent	SNP	292014	292014	1123	11	A	G	G	7	7	ATHL1	G	4	4
ZNF195	7748	broad.mit.edu	37	11	3392848	3392848	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3392848C>A	uc001lxt.2	-	2	267	c.89G>T	c.(88-90)AGG>ATG	p.R30M	ZNF195_uc001lxv.2_Missense_Mutation_p.R30M|ZNF195_uc001lxs.2_Missense_Mutation_p.R30M|ZNF195_uc010qxr.1_Missense_Mutation_p.R34M|ZNF195_uc009ydz.2_Missense_Mutation_p.R34M|ZNF195_uc001lxu.2_Missense_Mutation_p.R34M	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	zinc finger protein 195 isoform 1	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)														---	---	---	---	capture		Missense_Mutation	SNP	3392848	3392848	18349	11	C	A	A	24	24	ZNF195	A	2	2
OR51F1	256892	broad.mit.edu	37	11	4790944	4790944	+	Silent	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4790944T>C	uc010qyl.1	-	1	204	c.204A>G	c.(202-204)CTA>CTG	p.L68L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F,	68						integral to membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)														---	---	---	---	capture		Silent	SNP	4790944	4790944	11506	11	T	C	C	49	49	OR51F1	C	4	4
OR51S1	119692	broad.mit.edu	37	11	4870257	4870257	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4870257G>A	uc010qyo.1	-	1	182	c.182C>T	c.(181-183)CCC>CTC	p.P61L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	61	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	4870257	4870257	11515	11	G	A	A	43	43	OR51S1	A	2	2
DCHS1	8642	broad.mit.edu	37	11	6644526	6644526	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6644526G>A	uc001mem.1	-	21	8791	c.8381C>T	c.(8380-8382)TCA>TTA	p.S2794L		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2794	Cadherin 26.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	6644526	6644526	4458	11	G	A	A	45	45	DCHS1	A	2	2
OR5P2	120065	broad.mit.edu	37	11	7818157	7818157	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7818157C>A	uc001mfp.1	-	1	333	c.333G>T	c.(331-333)CTG>CTT	p.L111L		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P,	111	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---	capture		Silent	SNP	7818157	7818157	11588	11	C	A	A	21	21	OR5P2	A	2	2
TMEM9B	56674	broad.mit.edu	37	11	8977810	8977810	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8977810C>A	uc001mhe.1	-	3	362	c.233G>T	c.(232-234)CGG>CTG	p.R78L	TMEM9B_uc001mhf.1_Missense_Mutation_p.R4L|TMEM9B_uc010rbt.1_Missense_Mutation_p.R4L	NM_020644	NP_065695	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B precursor	78					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity				0				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)														---	---	---	---	capture		Missense_Mutation	SNP	8977810	8977810	16767	11	C	A	A	23	23	TMEM9B	A	1	1
MICALCL	84953	broad.mit.edu	37	11	12316029	12316029	+	Missense_Mutation	SNP	C	T	T	rs113400332		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:12316029C>T	uc001mkg.1	+	3	1342	c.1051C>T	c.(1051-1053)CGG>TGG	p.R351W		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	351					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			skin(1)	1				Epithelial(150;0.00177)														---	---	---	---	capture		Missense_Mutation	SNP	12316029	12316029	9962	11	C	T	T	31	31	MICALCL	T	1	1
E2F8	79733	broad.mit.edu	37	11	19251269	19251269	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19251269G>T	uc001mpm.2	-	10	2147	c.1625C>A	c.(1624-1626)CCA>CAA	p.P542Q	E2F8_uc009yhv.2_Intron|E2F8_uc001mpn.3_Missense_Mutation_p.P542Q	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	E2F family member 8	542					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	19251269	19251269	5059	11	G	T	T	47	47	E2F8	T	2	2
ANO3	63982	broad.mit.edu	37	11	26574888	26574888	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:26574888C>A	uc001mqt.3	+	13	1527	c.1382C>A	c.(1381-1383)GCC>GAC	p.A461D	ANO3_uc010rdr.1_Missense_Mutation_p.A445D|ANO3_uc010rds.1_Missense_Mutation_p.A300D|ANO3_uc010rdt.1_Missense_Mutation_p.A315D	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	461	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	26574888	26574888	706	11	C	A	A	26	26	ANO3	A	2	2
NAT10	55226	broad.mit.edu	37	11	34158541	34158541	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34158541G>T	uc001mvk.2	+	21	2423	c.2179G>T	c.(2179-2181)GGA>TGA	p.G727*	NAT10_uc010ren.1_Nonsense_Mutation_p.G655*	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 isoform a	727	N-acetyltransferase.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)																---	---	---	---	capture		Nonsense_Mutation	SNP	34158541	34158541	10570	11	G	T	T	47	47	NAT10	T	5	2
CRY2	1408	broad.mit.edu	37	11	45889225	45889225	+	Silent	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45889225A>T	uc010rgn.1	+	6	889	c.867A>T	c.(865-867)ACA>ACT	p.T289T	CRY2_uc009ykw.2_Silent_p.T207T|CRY2_uc010rgo.1_Silent_p.T11T	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	268	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	45889225	45889225	4043	11	A	T	T	7	7	CRY2	T	4	4
KBTBD4	55709	broad.mit.edu	37	11	47595308	47595308	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47595308C>A	uc001nfx.2	-	4	902	c.731G>T	c.(730-732)GGG>GTG	p.G244V	NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Missense_Mutation_p.G269V|KBTBD4_uc001nfz.2_Missense_Mutation_p.G260V|KBTBD4_uc001nfy.2_Missense_Mutation_p.G244V	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	244	Kelch 1.									ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	47595308	47595308	8300	11	C	A	A	22	22	KBTBD4	A	2	2
AGBL2	79841	broad.mit.edu	37	11	47712000	47712000	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47712000C>A	uc001ngg.2	-	9	1359	c.1259G>T	c.(1258-1260)TGC>TTC	p.C420F	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.C382F|AGBL2_uc001ngh.1_Missense_Mutation_p.C364F	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	420					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	47712000	47712000	378	11	C	A	A	25	25	AGBL2	A	2	2
OR4C12	283093	broad.mit.edu	37	11	50003265	50003265	+	Missense_Mutation	SNP	C	G	G	rs141386333		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:50003265C>G	uc010ria.1	-	1	773	c.773G>C	c.(772-774)CGC>CCC	p.R258P		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	258	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	50003265	50003265	11452	11	C	G	G	27	27	OR4C12	G	3	3
OR8K1	390157	broad.mit.edu	37	11	56113634	56113634	+	Silent	SNP	A	T	T	rs149499466		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56113634A>T	uc010rjg.1	+	1	120	c.120A>T	c.(118-120)ATA>ATT	p.I40I		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)														HNSCC(65;0.19)			---	---	---	---	capture		Silent	SNP	56113634	56113634	11654	11	A	T	T	16	16	OR8K1	T	4	4
FADS2	9415	broad.mit.edu	37	11	61624947	61624947	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61624947C>G	uc001nsl.1	+	7	977	c.827C>G	c.(826-828)CCC>CGC	p.P276R	FADS2_uc001nsj.2_Missense_Mutation_p.P254R|FADS2_uc010rlo.1_Missense_Mutation_p.P245R|FADS2_uc001nsk.2_Missense_Mutation_p.P276R	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	276	Helical; (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)													---	---	---	---	capture		Missense_Mutation	SNP	61624947	61624947	5563	11	C	G	G	22	22	FADS2	G	3	3
FTH1	2495	broad.mit.edu	37	11	61732565	61732565	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61732565C>A	uc001nsu.2	-	3	516	c.281G>T	c.(280-282)TGG>TTG	p.W94L		NM_002032	NP_002023	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	94	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			ovary(1)	1					Iron Dextran(DB00893)													---	---	---	---	capture		Missense_Mutation	SNP	61732565	61732565	6333	11	C	A	A	21	21	FTH1	A	2	2
AHNAK	79026	broad.mit.edu	37	11	62259234	62259234	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62259234C>A	uc001ntk.1	-	5	712	c.412G>T	c.(412-414)GGG>TGG	p.G138W		NM_024060	NP_076965	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 2	227					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---	capture		Missense_Mutation	SNP	62259234	62259234	417	11	C	A	A	23	23	AHNAK	A	1	1
SPTBN2	6712	broad.mit.edu	37	11	66463960	66463960	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66463960C>A	uc001ojd.2	-	20	4138	c.4066G>T	c.(4066-4068)GAG>TAG	p.E1356*		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1356	Spectrin 10.				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																		---	---	---	---	capture		Nonsense_Mutation	SNP	66463960	66463960	15634	11	C	A	A	30	30	SPTBN2	A	5	2
PPP1CA	5499	broad.mit.edu	37	11	67168617	67168617	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67168617C>A	uc001okw.1	-	2	232	c.109G>T	c.(109-111)GGT>TGT	p.G37C	PPP1CA_uc009yro.1_5'UTR|PPP1CA_uc001okt.1_Missense_Mutation_p.G42C|PPP1CA_uc001oku.1_Missense_Mutation_p.G48C|PPP1CA_uc001okv.1_Intron|PPP1CA_uc001okx.1_Missense_Mutation_p.G125C|PPP1CA_uc001oky.2_Missense_Mutation_p.G37C|TBC1D10C_uc001okz.2_5'Flank|TBC1D10C_uc001ola.2_5'Flank|TBC1D10C_uc001olb.2_5'Flank	NM_002708	NP_002699	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha	37					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)															---	---	---	---	capture		Missense_Mutation	SNP	67168617	67168617	12784	11	C	A	A	23	23	PPP1CA	A	1	1
CPT1A	1374	broad.mit.edu	37	11	68542814	68542814	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68542814G>T	uc001oog.3	-	13	1715	c.1545C>A	c.(1543-1545)CCC>CCA	p.P515P	CPT1A_uc001oof.3_Silent_p.P515P|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	515	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)													---	---	---	---	capture		Silent	SNP	68542814	68542814	3970	11	G	T	T	47	47	CPT1A	T	2	2
CPT1A	1374	broad.mit.edu	37	11	68552317	68552317	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68552317C>A	uc001oog.3	-	10	1299	c.1129G>T	c.(1129-1131)GAG>TAG	p.E377*	CPT1A_uc001oof.3_Nonsense_Mutation_p.E377*|CPT1A_uc009ysj.2_Intron	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	377	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			skin(2)	2	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)													---	---	---	---	capture		Nonsense_Mutation	SNP	68552317	68552317	3970	11	C	A	A	30	30	CPT1A	A	5	2
MAP6	4135	broad.mit.edu	37	11	75299068	75299068	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75299068G>T	uc001owu.2	-	4	1543	c.1478C>A	c.(1477-1479)CCA>CAA	p.P493Q		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	493	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)																	---	---	---	---	capture		Missense_Mutation	SNP	75299068	75299068	9647	11	G	T	T	47	47	MAP6	T	2	2
DLG2	1740	broad.mit.edu	37	11	83182671	83182671	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:83182671G>C	uc001paj.2	-	19	2432	c.2129C>G	c.(2128-2130)CCT>CGT	p.P710R	DLG2_uc001pai.2_Missense_Mutation_p.P589R|DLG2_uc010rsy.1_Missense_Mutation_p.P659R|DLG2_uc010rsz.1_Missense_Mutation_p.P706R|DLG2_uc010rta.1_Missense_Mutation_p.P692R|DLG2_uc001pak.2_Missense_Mutation_p.P815R|DLG2_uc010rtb.1_Missense_Mutation_p.P677R|DLG2_uc010rsw.1_Missense_Mutation_p.P174R|DLG2_uc010rsx.1_Missense_Mutation_p.P187R	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	710	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)																---	---	---	---	capture		Missense_Mutation	SNP	83182671	83182671	4735	11	G	C	C	35	35	DLG2	C	3	3
DLG2	1740	broad.mit.edu	37	11	83673930	83673930	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:83673930G>A	uc001paj.2	-	9	1326	c.1023C>T	c.(1021-1023)ACC>ACT	p.T341T	DLG2_uc001pai.2_Silent_p.T290T|DLG2_uc010rsy.1_Silent_p.T308T|DLG2_uc010rsz.1_Silent_p.T341T|DLG2_uc010rta.1_Silent_p.T341T|DLG2_uc001pak.2_Silent_p.T446T|DLG2_uc010rtb.1_Silent_p.T308T|DLG2_uc001pal.1_Silent_p.T341T|DLG2_uc001pam.1_Silent_p.T380T	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	341						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)																---	---	---	---	capture		Silent	SNP	83673930	83673930	4735	11	G	A	A	47	47	DLG2	A	2	2
HEPHL1	341208	broad.mit.edu	37	11	93800724	93800724	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93800724T>A	uc001pep.2	+	5	1028	c.871T>A	c.(871-873)TCC>ACC	p.S291T	uc001pen.1_RNA	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	291	Plastocyanin-like 2.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)																---	---	---	---	capture		Missense_Mutation	SNP	93800724	93800724	7338	11	T	A	A	58	58	HEPHL1	A	4	4
KIAA1377	57562	broad.mit.edu	37	11	101829038	101829038	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101829038C>A	uc001pgm.2	+	5	916	c.646C>A	c.(646-648)CAG>AAG	p.Q216K	KIAA1377_uc001pgn.2_Missense_Mutation_p.Q172K|KIAA1377_uc010run.1_Missense_Mutation_p.Q17K|KIAA1377_uc009yxa.1_Missense_Mutation_p.Q17K	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	216							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)														---	---	---	---	capture		Missense_Mutation	SNP	101829038	101829038	8536	11	C	A	A	21	21	KIAA1377	A	2	2
C11orf65	160140	broad.mit.edu	37	11	108264033	108264033	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108264033C>A	uc001pkh.2	-	7	703	c.633G>T	c.(631-633)AAG>AAT	p.K211N	C11orf65_uc010rvx.1_Missense_Mutation_p.K162N|C11orf65_uc009yxu.1_RNA	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	hypothetical protein LOC160140	211										ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)														---	---	---	---	capture		Missense_Mutation	SNP	108264033	108264033	1694	11	C	A	A	24	24	C11orf65	A	2	2
OR4D5	219875	broad.mit.edu	37	11	123810587	123810587	+	Silent	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123810587C>T	uc001pzk.1	+	1	264	c.264C>T	c.(262-264)GGC>GGT	p.G88G		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	88	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)														---	---	---	---	capture		Silent	SNP	123810587	123810587	11464	11	C	T	T	25	25	OR4D5	T	2	2
OR10G9	219870	broad.mit.edu	37	11	123894342	123894342	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123894342G>T	uc010sad.1	+	1	623	c.623G>T	c.(622-624)GGC>GTC	p.G208V		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)														---	---	---	---	capture		Missense_Mutation	SNP	123894342	123894342	11310	11	G	T	T	42	42	OR10G9	T	2	2
OR10G8	219869	broad.mit.edu	37	11	123900599	123900599	+	Silent	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123900599T>C	uc001pzp.1	+	1	270	c.270T>C	c.(268-270)GCT>GCC	p.A90A		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	90	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)														---	---	---	---	capture		Silent	SNP	123900599	123900599	11309	11	T	C	C	53	53	OR10G8	C	4	4
ROBO4	54538	broad.mit.edu	37	11	124766101	124766101	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124766101G>A	uc001qbg.2	-	4	812	c.672C>T	c.(670-672)TCC>TCT	p.S224S	ROBO4_uc010sas.1_Silent_p.S79S|ROBO4_uc001qbh.2_Silent_p.S114S|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	224	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)														---	---	---	---	capture		Silent	SNP	124766101	124766101	13995	11	G	A	A	47	47	ROBO4	A	2	2
DYRK4	8798	broad.mit.edu	37	12	4705872	4705872	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4705872C>A	uc001qmx.2	+	6	697	c.537C>A	c.(535-537)TTC>TTA	p.F179L	DYRK4_uc009zeh.1_Missense_Mutation_p.F294L|DYRK4_uc001qmy.1_Missense_Mutation_p.F179L	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	179	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(2)|skin(1)	3			Colorectal(7;0.103)															---	---	---	---	capture		Missense_Mutation	SNP	4705872	4705872	5044	12	C	A	A	32	32	DYRK4	A	2	2
AKAP3	10566	broad.mit.edu	37	12	4735746	4735746	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4735746T>A	uc001qnb.3	-	4	2551	c.2322A>T	c.(2320-2322)CAA>CAT	p.Q774H		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	774					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	4735746	4735746	455	12	T	A	A	56	56	AKAP3	A	4	4
GRIN2B	2904	broad.mit.edu	37	12	14018760	14018760	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14018760C>A	uc001rbt.2	-	2	562	c.383G>T	c.(382-384)GGG>GTG	p.G128V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	128	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---	capture		Missense_Mutation	SNP	14018760	14018760	7059	12	C	A	A	22	22	GRIN2B	A	2	2
PRICKLE1	144165	broad.mit.edu	37	12	42863376	42863376	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42863376T>A	uc010skv.1	-	4	547	c.260A>T	c.(259-261)CAG>CTG	p.Q87L	PRICKLE1_uc001rnl.2_Missense_Mutation_p.Q87L|PRICKLE1_uc010skw.1_Missense_Mutation_p.Q87L|PRICKLE1_uc001rnm.2_Missense_Mutation_p.Q87L|PRICKLE1_uc009zka.2_Missense_Mutation_p.Q83L	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	87	PET.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)														---	---	---	---	capture		Missense_Mutation	SNP	42863376	42863376	12929	12	T	A	A	55	55	PRICKLE1	A	4	4
OR8S1	341568	broad.mit.edu	37	12	48921715	48921715	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48921715C>G	uc010slu.1	+	2	909	c.909C>G	c.(907-909)GAC>GAG	p.D303E		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	48921715	48921715	11657	12	C	G	G	17	17	OR8S1	G	3	3
ESPL1	9700	broad.mit.edu	37	12	53671270	53671270	+	Missense_Mutation	SNP	G	T	T	rs146530110		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53671270G>T	uc001sck.2	+	10	2193	c.2102G>T	c.(2101-2103)CGG>CTG	p.R701L	ESPL1_uc001scj.2_Missense_Mutation_p.R376L|ESPL1_uc010soe.1_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	701					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	53671270	53671270	5446	12	G	T	T	39	39	ESPL1	T	1	1
OR6C70	390327	broad.mit.edu	37	12	55863538	55863538	+	Missense_Mutation	SNP	G	T	T	rs141132100		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55863538G>T	uc010spn.1	-	1	385	c.385C>A	c.(385-387)CGT>AGT	p.R129S		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	55863538	55863538	11607	12	G	T	T	38	38	OR6C70	T	1	1
CDK2	1017	broad.mit.edu	37	12	56364961	56364961	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56364961C>A	uc001sit.3	+	6	959	c.722C>A	c.(721-723)CCC>CAC	p.P241H	CDK2_uc001siu.3_Missense_Mutation_p.P207H|CDK2_uc010spy.1_Missense_Mutation_p.P181H|RAB5B_uc001siv.2_5'Flank|RAB5B_uc001siw.2_5'Flank|RAB5B_uc009zog.2_5'Flank|RAB5B_uc010spz.1_5'Flank	NM_001798	NP_001789	P24941	CDK2_HUMAN	cyclin-dependent kinase 2 isoform 1	241	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	56364961	56364961	3265	12	C	A	A	22	22	CDK2	A	2	2
SMARCC2	6601	broad.mit.edu	37	12	56568479	56568479	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56568479G>A	uc001skb.2	-	16	1558	c.1452C>T	c.(1450-1452)ACC>ACT	p.T484T	SMARCC2_uc001skd.2_Silent_p.T484T|SMARCC2_uc001ska.2_Silent_p.T484T|SMARCC2_uc001skc.2_Silent_p.T484T|SMARCC2_uc010sqf.1_Silent_p.T373T	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	484	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)															---	---	---	---	capture		Silent	SNP	56568479	56568479	15274	12	G	A	A	39	39	SMARCC2	A	1	1
LRIG3	121227	broad.mit.edu	37	12	59271448	59271448	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:59271448G>T	uc001sqr.2	-	15	2516	c.2270C>A	c.(2269-2271)TCA>TAA	p.S757*	LRIG3_uc009zqh.2_Nonsense_Mutation_p.S697*|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	757	Ig-like C2-type 3.					integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)															---	---	---	---	capture		Nonsense_Mutation	SNP	59271448	59271448	9319	12	G	T	T	45	45	LRIG3	T	5	2
LEMD3	23592	broad.mit.edu	37	12	65634709	65634709	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:65634709G>T	uc001ssl.1	+	9	2153	c.2147G>T	c.(2146-2148)TGG>TTG	p.W716L	LEMD3_uc009zqo.1_Missense_Mutation_p.W715L	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	716	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.|				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)														---	---	---	---	capture		Missense_Mutation	SNP	65634709	65634709	9045	12	G	T	T	47	47	LEMD3	T	2	2
KCNC2	3747	broad.mit.edu	37	12	75444506	75444506	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:75444506C>A	uc001sxg.1	-	3	1823	c.1279G>T	c.(1279-1281)GGG>TGG	p.G427W	KCNC2_uc009zry.2_Missense_Mutation_p.G427W|KCNC2_uc001sxe.2_Missense_Mutation_p.G427W|KCNC2_uc001sxf.2_Missense_Mutation_p.G427W|KCNC2_uc010stw.1_Missense_Mutation_p.G427W	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	427					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	75444506	75444506	8320	12	C	A	A	21	21	KCNC2	A	2	2
E2F7	144455	broad.mit.edu	37	12	77423777	77423777	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:77423777C>A	uc001sym.3	-	10	1954	c.1718G>T	c.(1717-1719)AGG>ATG	p.R573M	E2F7_uc009zse.2_Missense_Mutation_p.R60M	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	573					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	77423777	77423777	5058	12	C	A	A	24	24	E2F7	A	2	2
SH2B3	10019	broad.mit.edu	37	12	111885014	111885014	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111885014C>A	uc001tse.2	+	5	1369	c.1012C>A	c.(1012-1014)CTT>ATT	p.L338I	SH2B3_uc010syf.1_Missense_Mutation_p.L338I|SH2B3_uc001tsf.2_Missense_Mutation_p.L339I|SH2B3_uc010syg.1_Missense_Mutation_p.L136I	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	338					blood coagulation	cytosol	signal transducer activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	111885014	111885014	14720	12	C	A	A	24	24	SH2B3	A	2	2
DHX37	57647	broad.mit.edu	37	12	125435086	125435086	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125435086G>A	uc001ugy.2	-	23	3093	c.2994C>T	c.(2992-2994)AGC>AGT	p.S998S	DHX37_uc001ugz.1_Silent_p.S85S	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	998							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)														---	---	---	---	capture		Silent	SNP	125435086	125435086	4689	12	G	A	A	38	38	DHX37	A	1	1
TMEM132D	121256	broad.mit.edu	37	12	129558472	129558472	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:129558472C>A	uc009zyl.1	-	9	3576	c.3248G>T	c.(3247-3249)GGG>GTG	p.G1083V	TMEM132D_uc001uia.2_Missense_Mutation_p.G621V	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	1083	Cytoplasmic (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)														---	---	---	---	capture		Missense_Mutation	SNP	129558472	129558472	16579	12	C	A	A	22	22	TMEM132D	A	2	2
C13orf23	80209	broad.mit.edu	37	13	39600451	39600451	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39600451G>T	uc001uwy.2	-	6	1316	c.443C>A	c.(442-444)CCC>CAC	p.P148H	C13orf23_uc001uwz.2_Missense_Mutation_p.P126H	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	148								p.P148P(1)		ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)														---	---	---	---	capture		Missense_Mutation	SNP	39600451	39600451	1768	13	G	T	T	43	43	C13orf23	T	2	2
KLHL1	57626	broad.mit.edu	37	13	70681669	70681669	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:70681669G>C	uc001vip.2	-	1	957	c.163C>G	c.(163-165)CGC>GGC	p.R55G	KLHL1_uc010thm.1_Missense_Mutation_p.R55G|ATXN8OS_uc010aej.1_RNA	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	55	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)														---	---	---	---	capture		Missense_Mutation	SNP	70681669	70681669	8677	13	G	C	C	37	37	KLHL1	C	3	3
PIBF1	10464	broad.mit.edu	37	13	73372080	73372080	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73372080G>T	uc001vjc.2	+	5	893	c.588G>T	c.(586-588)AAG>AAT	p.K196N	PIBF1_uc001vja.1_Missense_Mutation_p.K196N|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.K196N|PIBF1_uc010aep.2_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	196						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)														---	---	---	---	capture		Missense_Mutation	SNP	73372080	73372080	12303	13	G	T	T	35	35	PIBF1	T	2	2
SLITRK5	26050	broad.mit.edu	37	13	88330288	88330288	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:88330288G>T	uc001vln.2	+	2	2864	c.2645G>T	c.(2644-2646)TGC>TTC	p.C882F	SLITRK5_uc010tic.1_Missense_Mutation_p.C641F	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	882	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)																	---	---	---	---	capture		Missense_Mutation	SNP	88330288	88330288	15244	13	G	T	T	46	46	SLITRK5	T	2	2
MYO16	23026	broad.mit.edu	37	13	109459146	109459146	+	Silent	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109459146T>C	uc001vqt.1	+	7	921	c.795T>C	c.(793-795)TAT>TAC	p.Y265Y	MYO16_uc010agk.1_Silent_p.Y287Y|MYO16_uc001vqu.1_Silent_p.Y65Y	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	265	ANK 7.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.Y265H(1)		ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)															---	---	---	---	capture		Silent	SNP	109459146	109459146	10459	13	T	C	C	51	51	MYO16	C	4	4
COL4A1	1282	broad.mit.edu	37	13	110819570	110819570	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110819570C>T	uc001vqw.3	-	44	4006	c.3884G>A	c.(3883-3885)GGT>GAT	p.G1295D	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1295	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)															---	---	---	---	capture		Missense_Mutation	SNP	110819570	110819570	3827	13	C	T	T	18	18	COL4A1	T	2	2
COL4A2	1284	broad.mit.edu	37	13	111077142	111077142	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111077142C>A	uc001vqx.2	+	5	531	c.242C>A	c.(241-243)CCG>CAG	p.P81Q		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	81					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)															---	---	---	---	capture		Missense_Mutation	SNP	111077142	111077142	3828	13	C	A	A	23	23	COL4A2	A	1	1
TFDP1	7027	broad.mit.edu	37	13	114290914	114290914	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114290914G>A	uc001vtw.2	+	10	1117	c.905G>A	c.(904-906)CGG>CAG	p.R302Q	TFDP1_uc010tkd.1_Missense_Mutation_p.R207Q|TFDP1_uc010tke.1_Missense_Mutation_p.R207Q|TFDP1_uc001vty.3_Missense_Mutation_p.R302Q|TFDP1_uc001vtx.2_Missense_Mutation_p.R182Q	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	302	DCB2.|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)												TSP Lung(29;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	114290914	114290914	16325	13	G	A	A	39	39	TFDP1	A	1	1
RASA3	22821	broad.mit.edu	37	13	114778717	114778717	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114778717C>A	uc001vui.2	-	15	1544	c.1413G>T	c.(1411-1413)CCG>CCT	p.P471P	RASA3_uc010tkk.1_Silent_p.P439P|RASA3_uc001vuj.2_Silent_p.P88P	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	471	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)															---	---	---	---	capture		Silent	SNP	114778717	114778717	13522	13	C	A	A	23	23	RASA3	A	1	1
OR4N2	390429	broad.mit.edu	37	14	20295919	20295919	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20295919G>C	uc010tkv.1	+	1	312	c.312G>C	c.(310-312)TTG>TTC	p.L104F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Missense_Mutation	SNP	20295919	20295919	11487	14	G	C	C	46	46	OR4N2	C	3	3
OR4K5	79317	broad.mit.edu	37	14	20389170	20389170	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20389170C>A	uc010tkw.1	+	1	405	c.405C>A	c.(403-405)ATC>ATA	p.I135I		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Silent	SNP	20389170	20389170	11483	14	C	A	A	29	29	OR4K5	A	2	2
FSCB	84075	broad.mit.edu	37	14	44975852	44975852	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:44975852C>A	uc001wvn.2	-	1	648	c.339G>T	c.(337-339)CAG>CAT	p.Q113H		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	113						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)														---	---	---	---	capture		Missense_Mutation	SNP	44975852	44975852	6316	14	C	A	A	24	24	FSCB	A	2	2
GPR65	8477	broad.mit.edu	37	14	88477826	88477826	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88477826A>T	uc001xvv.2	+	2	1165	c.635A>T	c.(634-636)CAC>CTC	p.H212L		NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	212	Cytoplasmic (Potential).				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	88477826	88477826	6981	14	A	T	T	6	6	GPR65	T	4	4
SERPINA3	12	broad.mit.edu	37	14	95085702	95085702	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95085702G>A	uc001ydp.2	+	3	893	c.814G>A	c.(814-816)GCC>ACC	p.A272T	SERPINA3_uc001ydo.3_Missense_Mutation_p.A297T|SERPINA3_uc001ydr.2_Intron|SERPINA3_uc001ydq.2_Missense_Mutation_p.A272T|SERPINA3_uc001yds.2_Missense_Mutation_p.A272T|SERPINA3_uc010avg.2_Missense_Mutation_p.A272T	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	272					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)														---	---	---	---	capture		Missense_Mutation	SNP	95085702	95085702	14578	14	G	A	A	46	46	SERPINA3	A	2	2
DYNC1H1	1778	broad.mit.edu	37	14	102506598	102506598	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102506598C>A	uc001yks.2	+	63	11880	c.11716C>A	c.(11716-11718)CAG>AAG	p.Q3906K		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3906					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	102506598	102506598	5027	14	C	A	A	21	21	DYNC1H1	A	2	2
CDC42BPB	9578	broad.mit.edu	37	14	103416919	103416919	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103416919C>A	uc001ymi.1	-	25	3425	c.3193G>T	c.(3193-3195)GTG>TTG	p.V1065L	CDC42BPB_uc001ymj.1_Missense_Mutation_p.V167L	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1065	Phorbol-ester/DAG-type.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)														---	---	---	---	capture		Missense_Mutation	SNP	103416919	103416919	3201	14	C	A	A	19	19	CDC42BPB	A	1	1
APBA2	321	broad.mit.edu	37	15	29346296	29346296	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:29346296G>T	uc001zck.2	+	3	416	c.209G>T	c.(208-210)GGG>GTG	p.G70V	APBA2_uc010azj.2_Missense_Mutation_p.G70V|APBA2_uc010uat.1_Missense_Mutation_p.G70V|APBA2_uc001zcl.2_Missense_Mutation_p.G70V|APBA2_uc010uas.1_Missense_Mutation_p.G70V	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	70					nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)														---	---	---	---	capture		Missense_Mutation	SNP	29346296	29346296	767	15	G	T	T	43	43	APBA2	T	2	2
GREM1	26585	broad.mit.edu	37	15	33023383	33023383	+	Silent	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33023383T>A	uc001zhe.1	+	2	651	c.492T>A	c.(490-492)CCT>CCA	p.P164P	GREM1_uc001zhd.1_Silent_p.P94P|GREM1_uc010uby.1_Silent_p.P123P	NM_013372	NP_037504	O60565	GREM1_HUMAN	gremlin-1 precursor	164	CTCK.				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity				0		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)														---	---	---	---	capture		Silent	SNP	33023383	33023383	7039	15	T	A	A	53	53	GREM1	A	4	4
RYR3	6263	broad.mit.edu	37	15	34109158	34109158	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34109158C>T	uc001zhi.2	+	75	10668	c.10598C>T	c.(10597-10599)GCT>GTT	p.A3533V	RYR3_uc010bar.2_Missense_Mutation_p.A3528V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3533					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---	capture		Missense_Mutation	SNP	34109158	34109158	14250	15	C	T	T	28	28	RYR3	T	2	2
DISP2	85455	broad.mit.edu	37	15	40656136	40656136	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40656136C>T	uc001zlk.1	+	2	519	c.430C>T	c.(430-432)CAC>TAC	p.H144Y		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	144					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)														---	---	---	---	capture		Missense_Mutation	SNP	40656136	40656136	4719	15	C	T	T	25	25	DISP2	T	2	2
VPS13C	54832	broad.mit.edu	37	15	62265707	62265707	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62265707C>A	uc002agz.2	-	26	2637	c.2563G>T	c.(2563-2565)GGT>TGT	p.G855C	VPS13C_uc002aha.2_Missense_Mutation_p.G812C|VPS13C_uc002ahb.1_Missense_Mutation_p.G855C|VPS13C_uc002ahc.1_Missense_Mutation_p.G812C	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	855					protein localization					ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	62265707	62265707	17758	15	C	A	A	24	24	VPS13C	A	2	2
ZNF609	23060	broad.mit.edu	37	15	64791652	64791652	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64791652G>A	uc002ann.2	+	1	34	c.34G>A	c.(34-36)GGA>AGA	p.G12R	ZNF609_uc010bgy.2_Missense_Mutation_p.G12R	NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	12						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	64791652	64791652	18630	15	G	A	A	35	35	ZNF609	A	2	2
RBPMS2	348093	broad.mit.edu	37	15	65042580	65042580	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65042580C>A	uc002anq.2	-	3	418	c.166G>T	c.(166-168)GGG>TGG	p.G56W		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	56	RRM.						nucleic acid binding|nucleotide binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	65042580	65042580	13633	15	C	A	A	22	22	RBPMS2	A	2	2
SMAD3	4088	broad.mit.edu	37	15	67457287	67457287	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:67457287C>A	uc002aqj.2	+	2	559	c.261C>A	c.(259-261)ATC>ATA	p.I87I	SMAD3_uc010ujr.1_5'UTR|SMAD3_uc010ujs.1_Silent_p.I43I|SMAD3_uc010ujt.1_5'Flank	NM_005902	NP_005893	P84022	SMAD3_HUMAN	mothers against decapentaplegic homolog 3	87	MH1.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)														---	---	---	---	capture		Silent	SNP	67457287	67457287	15257	15	C	A	A	32	32	SMAD3	A	2	2
PARP6	56965	broad.mit.edu	37	15	72554003	72554003	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72554003A>T	uc002auc.2	-	8	900	c.441T>A	c.(439-441)AAT>AAA	p.N147K	PARP6_uc002aua.2_Missense_Mutation_p.N12K|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.N147K	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	147							NAD+ ADP-ribosyltransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	72554003	72554003	11881	15	A	T	T	8	8	PARP6	T	4	4
MAN2C1	4123	broad.mit.edu	37	15	75651097	75651097	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75651097C>T	uc002baf.2	-	19	2211	c.2194G>A	c.(2194-2196)GTC>ATC	p.V732I	MAN2C1_uc002bag.2_Missense_Mutation_p.V732I|MAN2C1_uc002bah.2_Missense_Mutation_p.V749I|MAN2C1_uc010bkk.2_Missense_Mutation_p.V633I	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	732					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	75651097	75651097	9601	15	C	T	T	17	17	MAN2C1	T	2	2
CSPG4	1464	broad.mit.edu	37	15	75981901	75981901	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75981901C>T	uc002baw.2	-	3	1598	c.1505G>A	c.(1504-1506)CGC>CAC	p.R502H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	502	Extracellular (Potential).|CSPG 1.|Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	75981901	75981901	4101	15	C	T	T	27	27	CSPG4	T	1	1
SCAPER	49855	broad.mit.edu	37	15	76673733	76673733	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:76673733G>A	uc002bby.2	-	27	3750	c.3691C>T	c.(3691-3693)CTG>TTG	p.L1231L	SCAPER_uc010bkr.2_Silent_p.L539L|SCAPER_uc002bbx.2_Silent_p.L985L|SCAPER_uc002bbz.1_Silent_p.L1102L	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1230						endoplasmic reticulum|nucleus	zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---	capture		Silent	SNP	76673733	76673733	14359	15	G	A	A	33	33	SCAPER	A	2	2
PSMA4	5685	broad.mit.edu	37	15	78837990	78837990	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78837990G>T	uc002bdu.3	+	7	549	c.391G>T	c.(391-393)GGT>TGT	p.G131C	PSMA4_uc010blf.2_Missense_Mutation_p.G131C|PSMA4_uc002bdv.3_Missense_Mutation_p.G60C|PSMA4_uc002bdw.3_Missense_Mutation_p.G107C|PSMA4_uc002bdx.3_Missense_Mutation_p.G60C	NM_002789	NP_002780	P25789	PSA4_HUMAN	proteasome alpha 4 subunit isoform 1	131					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	78837990	78837990	13122	15	G	T	T	47	47	PSMA4	T	2	2
CHRNA3	1136	broad.mit.edu	37	15	78894195	78894195	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78894195G>T	uc002bec.2	-	5	975	c.789C>A	c.(787-789)TTC>TTA	p.F263L	CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.F263L	NM_000743	NP_000734	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3	263	Helical; (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	78894195	78894195	3518	15	G	T	T	33	33	CHRNA3	T	2	2
TMC3	342125	broad.mit.edu	37	15	81636343	81636343	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81636343G>A	uc002bgo.1	-	14	1562	c.1562C>T	c.(1561-1563)GCG>GTG	p.A521V	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.A521V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	521	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	81636343	81636343	16516	15	G	A	A	38	38	TMC3	A	1	1
TMC3	342125	broad.mit.edu	37	15	81638754	81638754	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81638754G>T	uc002bgo.1	-	12	1224	c.1224C>A	c.(1222-1224)TAC>TAA	p.Y408*	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Nonsense_Mutation_p.Y408*	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	408	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	81638754	81638754	16516	15	G	T	T	48	48	TMC3	T	5	2
BNC1	646	broad.mit.edu	37	15	83926460	83926460	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83926460G>T	uc002bjt.1	-	5	2807	c.2719C>A	c.(2719-2721)CCC>ACC	p.P907T	BNC1_uc010uos.1_Missense_Mutation_p.P895T	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	907					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	83926460	83926460	1499	15	G	T	T	43	43	BNC1	T	2	2
AKAP13	11214	broad.mit.edu	37	15	86286987	86286987	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86286987G>T	uc002blv.1	+	36	8493	c.8323G>T	c.(8323-8325)GGG>TGG	p.G2775W	AKAP13_uc002blu.1_Missense_Mutation_p.G2779W|AKAP13_uc002blw.1_Missense_Mutation_p.G1240W|AKAP13_uc002blx.1_Missense_Mutation_p.G1020W	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2775	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	86286987	86286987	452	15	G	T	T	47	47	AKAP13	T	2	2
CHD2	1106	broad.mit.edu	37	15	93540231	93540231	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93540231G>T	uc002bsp.2	+	29	4215	c.3640G>T	c.(3640-3642)GGA>TGA	p.G1214*	CHD2_uc002bso.1_Nonsense_Mutation_p.G1214*	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1214					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---	capture		Nonsense_Mutation	SNP	93540231	93540231	3459	15	G	T	T	39	39	CHD2	T	5	1
CHD2	1106	broad.mit.edu	37	15	93563306	93563306	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93563306G>T	uc002bsp.2	+	38	5546	c.4971G>T	c.(4969-4971)TGG>TGT	p.W1657C	CHD2_uc002bso.1_Missense_Mutation_p.W1657C	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1657					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---	capture		Missense_Mutation	SNP	93563306	93563306	3459	15	G	T	T	43	43	CHD2	T	2	2
MCTP2	55784	broad.mit.edu	37	15	94945214	94945214	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:94945214G>T	uc002btj.2	+	16	2116	c.2051G>T	c.(2050-2052)TGG>TTG	p.W684L	MCTP2_uc010boj.2_Missense_Mutation_p.W413L|MCTP2_uc010bok.2_Missense_Mutation_p.W684L|MCTP2_uc002btk.3_Missense_Mutation_p.W272L|MCTP2_uc002btl.2_Missense_Mutation_p.W272L	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	684					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)															---	---	---	---	capture		Missense_Mutation	SNP	94945214	94945214	9790	15	G	T	T	47	47	MCTP2	T	2	2
ARRDC4	91947	broad.mit.edu	37	15	98509147	98509147	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:98509147G>T	uc010bom.2	+	3	556	c.397G>T	c.(397-399)GGG>TGG	p.G133W	ARRDC4_uc002bui.3_Missense_Mutation_p.G46W	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	133					signal transduction						0	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)															---	---	---	---	capture		Missense_Mutation	SNP	98509147	98509147	1003	15	G	T	T	47	47	ARRDC4	T	2	2
FBXL16	146330	broad.mit.edu	37	16	746775	746775	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:746775C>A	uc002cjc.2	-	3	834	c.631G>T	c.(631-633)GAG>TAG	p.E211*	FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_5'Flank	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	211											0		Hepatocellular(780;0.0218)																---	---	---	---	capture		Nonsense_Mutation	SNP	746775	746775	5949	16	C	A	A	31	31	FBXL16	A	5	1
CREBBP	1387	broad.mit.edu	37	16	3828795	3828795	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3828795G>C	uc002cvv.2	-	9	2051	c.1847C>G	c.(1846-1848)CCT>CGT	p.P616R	CREBBP_uc002cvw.2_Missense_Mutation_p.P578R	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	616	KIX.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)				T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	3828795	3828795	4000	16	G	C	C	35	35	CREBBP	C	3	3
GRIN2A	2903	broad.mit.edu	37	16	9892214	9892214	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:9892214G>T	uc002czo.3	-	11	2824	c.2276C>A	c.(2275-2277)ACC>AAC	p.T759N	GRIN2A_uc010uym.1_Missense_Mutation_p.T759N|GRIN2A_uc010uyn.1_Missense_Mutation_p.T602N|GRIN2A_uc002czr.3_Missense_Mutation_p.T759N	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	759	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---	capture		Missense_Mutation	SNP	9892214	9892214	7058	16	G	T	T	44	44	GRIN2A	T	2	2
KIAA0556	23247	broad.mit.edu	37	16	27629747	27629747	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27629747G>T	uc002dow.2	+	3	89	c.65G>T	c.(64-66)GGT>GTT	p.G22V		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	22										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	27629747	27629747	8490	16	G	T	T	44	44	KIAA0556	T	2	2
MMP2	4313	broad.mit.edu	37	16	55539304	55539304	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55539304C>G	uc002ehz.3	+	13	2244	c.1933C>G	c.(1933-1935)CTG>GTG	p.L645V	MMP2_uc010vhd.1_Missense_Mutation_p.L569V|MMP2_uc010ccc.2_Missense_Mutation_p.L595V|MMP2_uc002eia.3_Missense_Mutation_p.L142V	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	645	Required for inhibitor TIMP2 binding.|Hemopexin-like 4.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)													---	---	---	---	capture		Missense_Mutation	SNP	55539304	55539304	10048	16	C	G	G	32	32	MMP2	G	3	3
CES1	1066	broad.mit.edu	37	16	55844887	55844887	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55844887C>A	uc002eim.2	-	10	1227	c.1119G>T	c.(1117-1119)CTG>CTT	p.L373L	CES1_uc010ccf.2_Silent_p.L48L|CES1_uc002eil.2_Silent_p.L374L|CES1_uc002ein.2_Silent_p.L372L	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor	373					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)													---	---	---	---	capture		Silent	SNP	55844887	55844887	3402	16	C	A	A	21	21	CES1	A	2	2
CIAPIN1	57019	broad.mit.edu	37	16	57465090	57465090	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57465090C>T	uc002ell.1	-	7	890	c.719G>A	c.(718-720)GGG>GAG	p.G240E	CIAPIN1_uc002elk.1_RNA|CIAPIN1_uc002elm.1_Missense_Mutation_p.G227E|CIAPIN1_uc002eln.1_Intron|CIAPIN1_uc010cda.1_Missense_Mutation_p.G240E|CIAPIN1_uc002elo.1_Intron	NM_020313	NP_064709	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	240					anti-apoptosis|apoptosis	cytoplasm|nucleolus					0																		---	---	---	---	capture		Missense_Mutation	SNP	57465090	57465090	3553	16	C	T	T	22	22	CIAPIN1	T	2	2
PRSS54	221191	broad.mit.edu	37	16	58327644	58327644	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58327644G>A	uc002enf.2	-	3	472	c.77C>T	c.(76-78)TCT>TTT	p.S26F	PRSS54_uc002eng.2_Missense_Mutation_p.S26F|PRSS54_uc010vie.1_5'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	26					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	58327644	58327644	13084	16	G	A	A	33	33	PRSS54	A	2	2
KCTD19	146212	broad.mit.edu	37	16	67327991	67327991	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67327991G>T	uc002esu.2	-	12	1725	c.1674C>A	c.(1672-1674)TCC>TCA	p.S558S	KCTD19_uc002est.2_Silent_p.S330S|KCTD19_uc010vjj.1_Silent_p.S301S	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	558						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)														---	---	---	---	capture		Silent	SNP	67327991	67327991	8412	16	G	T	T	47	47	KCTD19	T	2	2
SF3B3	23450	broad.mit.edu	37	16	70597869	70597869	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70597869G>T	uc002ezf.2	+	18	2590	c.2379G>T	c.(2377-2379)GAG>GAT	p.E793D		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	793					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---	capture		Missense_Mutation	SNP	70597869	70597869	14641	16	G	T	T	33	33	SF3B3	T	2	2
HP	3240	broad.mit.edu	37	16	72094298	72094298	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72094298C>A	uc002fbr.3	+	7	774	c.730C>A	c.(730-732)CAG>AAG	p.Q244K	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.2_Missense_Mutation_p.Q185K|HP_uc002fbt.3_Missense_Mutation_p.Q185K|HP_uc002fbu.1_5'UTR|HP_uc002fbv.3_Missense_Mutation_p.Q155K|HP_uc002fbw.3_Missense_Mutation_p.Q66K|HP_uc002fbx.3_Missense_Mutation_p.Q66K|HPR_uc002fby.2_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	haptoglobin isoform 1 preproprotein	244	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity				0		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)														---	---	---	---	capture		Missense_Mutation	SNP	72094298	72094298	7619	16	C	A	A	21	21	HP	A	2	2
DHX38	9785	broad.mit.edu	37	16	72142152	72142152	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72142152C>A	uc002fcb.2	+	22	3346	c.2991C>A	c.(2989-2991)ATC>ATA	p.I997I	DHX38_uc010vmp.1_Silent_p.I309I	NM_014003	NP_054722	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	997					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1		Ovarian(137;0.125)																---	---	---	---	capture		Silent	SNP	72142152	72142152	4690	16	C	A	A	30	30	DHX38	A	2	2
MBTPS1	8720	broad.mit.edu	37	16	84104333	84104333	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84104333C>T	uc002fhi.2	-	13	2144	c.1642G>A	c.(1642-1644)GCC>ACC	p.A548T	MBTPS1_uc002fhh.2_Missense_Mutation_p.A52T	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	membrane-bound transcription factor site-1	548	Lumenal (Potential).				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	84104333	84104333	9750	16	C	T	T	25	25	MBTPS1	T	2	2
LRRC50	123872	broad.mit.edu	37	16	84199451	84199451	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84199451G>T	uc002fhl.3	+	7	1107	c.926G>T	c.(925-927)TGG>TTG	p.W309L	LRRC50_uc010vnw.1_Missense_Mutation_p.W57L	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	309					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0														Kartagener_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	84199451	84199451	9384	16	G	T	T	47	47	LRRC50	T	2	2
KCNG4	93107	broad.mit.edu	37	16	84270969	84270969	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84270969G>T	uc010voc.1	-	2	244	c.123C>A	c.(121-123)TAC>TAA	p.Y41*	KCNG4_uc002fhu.1_Nonsense_Mutation_p.Y41*	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	41	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	84270969	84270969	8335	16	G	T	T	44	44	KCNG4	T	5	2
NLRP1	22861	broad.mit.edu	37	17	5486129	5486129	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5486129G>T	uc002gci.2	-	2	864	c.309C>A	c.(307-309)CCC>CCA	p.P103P	NLRP1_uc002gcg.1_Silent_p.P103P|NLRP1_uc002gck.2_Silent_p.P103P|NLRP1_uc002gcj.2_Silent_p.P103P|NLRP1_uc002gcl.2_Silent_p.P103P|NLRP1_uc002gch.3_Silent_p.P103P|NLRP1_uc010clh.2_Silent_p.P103P	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	103					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)																---	---	---	---	capture		Silent	SNP	5486129	5486129	10874	17	G	T	T	43	43	NLRP1	T	2	2
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578457C>A	uc002gim.2	-	5	667	c.473G>T	c.(472-474)CGC>CTC	p.R158L	TP53_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	158	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(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)			---	---	---	---	capture		Missense_Mutation	SNP	7578457	7578457	16923	17	C	A	A	27	27	TP53	A	1	1
KRBA2	124751	broad.mit.edu	37	17	8272906	8272906	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8272906C>A	uc002glf.1	-	2	1031	c.1025G>T	c.(1024-1026)TGG>TTG	p.W342L	KRBA2_uc002glg.1_Missense_Mutation_p.W259L	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	342	Integrase catalytic.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	8272906	8272906	8755	17	C	A	A	21	21	KRBA2	A	2	2
GAS7	8522	broad.mit.edu	37	17	9828857	9828857	+	Silent	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9828857C>T	uc002gmg.1	-	11	1235	c.1074G>A	c.(1072-1074)GAG>GAA	p.E358E	GAS7_uc010vvc.1_Silent_p.E172E|GAS7_uc002gmh.1_Silent_p.E218E|GAS7_uc010vvd.1_Silent_p.E310E|GAS7_uc002gmi.2_Silent_p.E294E|GAS7_uc002gmj.1_Silent_p.E298E|GAS7_uc010coh.1_Silent_p.E298E	NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	358	Potential.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2								T	MLL	AML*						OREG0024170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	9828857	9828857	6514	17	C	T	T	32	32	GAS7	T	2	2
MYH2	4620	broad.mit.edu	37	17	10439902	10439902	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10439902T>C	uc010coi.2	-	17	2047	c.1919A>G	c.(1918-1920)AAG>AGG	p.K640R	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.K640R|MYH2_uc010coj.2_Missense_Mutation_p.K640R	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	640	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14																		---	---	---	---	capture		Missense_Mutation	SNP	10439902	10439902	10430	17	T	C	C	56	56	MYH2	C	4	4
C17orf103	256302	broad.mit.edu	37	17	21147437	21147437	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:21147437G>A	uc010vzx.1	-	3	209	c.207C>T	c.(205-207)ATC>ATT	p.I69I		NM_152914	NP_690878	Q8N6N6	GTL3B_HUMAN	transcript expressed during hematopoiesis 2	69											0																		---	---	---	---	capture		Silent	SNP	21147437	21147437	1903	17	G	A	A	37	37	C17orf103	A	1	1
KCNJ12	3768	broad.mit.edu	37	17	21319497	21319497	+	Silent	SNP	C	T	T	rs139358757	byFrequency	TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:21319497C>T	uc002gyv.1	+	3	1548	c.843C>T	c.(841-843)TTC>TTT	p.F281F		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	281	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)										Prostate(3;0.18)			---	---	---	---	capture		Silent	SNP	21319497	21319497	8351	17	C	T	T	31	31	KCNJ12	T	1	1
SLC13A2	9058	broad.mit.edu	37	17	26817737	26817737	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26817737G>A	uc002hbh.2	+	4	454	c.387G>A	c.(385-387)ATG>ATA	p.M129I	SLC13A2_uc010wal.1_Missense_Mutation_p.M86I|SLC13A2_uc010wam.1_Missense_Mutation_p.M85I|SLC13A2_uc010wan.1_Missense_Mutation_p.M178I|SLC13A2_uc010wao.1_Missense_Mutation_p.M86I|SLC13A2_uc002hbi.2_Missense_Mutation_p.M58I	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	129	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)													---	---	---	---	capture		Missense_Mutation	SNP	26817737	26817737	14887	17	G	A	A	46	46	SLC13A2	A	2	2
SUPT6H	6830	broad.mit.edu	37	17	27009836	27009836	+	Silent	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27009836C>T	uc002hby.2	+	14	1779	c.1689C>T	c.(1687-1689)CCC>CCT	p.P563P	SUPT6H_uc010crt.2_Silent_p.P563P	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	563					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)																	---	---	---	---	capture		Silent	SNP	27009836	27009836	15920	17	C	T	T	23	23	SUPT6H	T	1	1
UTP6	55813	broad.mit.edu	37	17	30213082	30213082	+	Splice_Site	SNP	T	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30213082T>G	uc002hgr.2	-	9	705	c.622_splice	c.e9-1	p.E208_splice	UTP6_uc002hgq.2_Splice_Site_p.E24_splice|UTP6_uc010cst.2_Splice_Site_p.E57_splice|UTP6_uc010wbw.1_Splice_Site_p.E208_splice	NM_018428	NP_060898			hepatocellular carcinoma-associated antigen 66						rRNA processing	nucleolus	binding			ovary(1)	1		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)																---	---	---	---	capture		Splice_Site	SNP	30213082	30213082	17667	17	T	G	G	53	53	UTP6	G	5	4
CCL7	6354	broad.mit.edu	37	17	32598747	32598747	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:32598747G>A	uc002hhz.2	+	3	296	c.226G>A	c.(226-228)GCT>ACT	p.A76T	CCL7_uc010ctf.2_RNA	NM_006273	NP_006264	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7 precursor	76					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			ovary(1)	1	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)														---	---	---	---	capture		Missense_Mutation	SNP	32598747	32598747	3033	17	G	A	A	46	46	CCL7	A	2	2
PEX12	5193	broad.mit.edu	37	17	33902880	33902880	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33902880C>A	uc002hjp.2	-	3	1617	c.1001G>T	c.(1000-1002)AGG>ATG	p.R334M		NM_000286	NP_000277	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	334	Cytoplasmic (Potential).|RING-type; degenerate.				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---	capture		Missense_Mutation	SNP	33902880	33902880	12162	17	C	A	A	24	24	PEX12	A	2	2
CCL14	6358	broad.mit.edu	37	17	34310885	34310885	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34310885G>T	uc010wcr.1	-	3	313	c.234C>A	c.(232-234)CCC>CCA	p.P78P	CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Silent_p.P94P|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank	NM_032963	NP_116739	Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14 isoform 1	78					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---	capture		Silent	SNP	34310885	34310885	3010	17	G	T	T	47	47	CCL14	T	2	2
CACNB1	782	broad.mit.edu	37	17	37331499	37331499	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37331499C>A	uc002hrm.1	-	14	1897	c.1744G>T	c.(1744-1746)GGG>TGG	p.G582W	CACNB1_uc002hrl.1_Missense_Mutation_p.G354W	NM_000723	NP_000714	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1	582					axon guidance	voltage-gated calcium channel complex				large_intestine(1)|ovary(1)	2					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	37331499	37331499	2668	17	C	A	A	22	22	CACNB1	A	2	2
FBXL20	84961	broad.mit.edu	37	17	37425100	37425100	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37425100C>A	uc010wed.1	-	12	1134	c.913G>T	c.(913-915)GAC>TAC	p.D305Y	FBXL20_uc002hrt.2_Missense_Mutation_p.D305Y|FBXL20_uc010cvu.2_Missense_Mutation_p.D273Y	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	305	LRR 9.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)															---	---	---	---	capture		Missense_Mutation	SNP	37425100	37425100	5954	17	C	A	A	30	30	FBXL20	A	2	2
MED1	5469	broad.mit.edu	37	17	37580925	37580925	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37580925G>T	uc002hrv.3	-	11	1018	c.806C>A	c.(805-807)CCA>CAA	p.P269Q	MED1_uc010wee.1_Missense_Mutation_p.P97Q|MED1_uc002hru.2_Missense_Mutation_p.P269Q	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	269	Interaction with ESR1.|Interaction with the Mediator complex.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)											HNSCC(31;0.082)			---	---	---	---	capture		Missense_Mutation	SNP	37580925	37580925	9814	17	G	T	T	47	47	MED1	T	2	2
MED24	9862	broad.mit.edu	37	17	38209752	38209752	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38209752C>A	uc002htt.2	-	2	413	c.100G>T	c.(100-102)GGA>TGA	p.G34*	MED24_uc010wet.1_RNA|MED24_uc002hts.2_Nonsense_Mutation_p.G59*|MED24_uc002htu.2_Nonsense_Mutation_p.G34*|MED24_uc010cwn.2_Nonsense_Mutation_p.G34*|MED24_uc010weu.1_Translation_Start_Site|MED24_uc010wev.1_Intron|MED24_uc010wew.1_Intron|MED24_uc010wex.1_5'Flank|MED24_uc010wfa.1_5'Flank|MED24_uc010wfb.1_Nonsense_Mutation_p.G59*|MED24_uc010wfc.1_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	34					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)																	---	---	---	---	capture		Nonsense_Mutation	SNP	38209752	38209752	9831	17	C	A	A	24	24	MED24	A	5	2
KRT20	54474	broad.mit.edu	37	17	39034579	39034579	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39034579G>T	uc002hvl.2	-	6	999	c.957C>A	c.(955-957)GCC>GCA	p.A319A		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	319	Rod.|Coil 2.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)																---	---	---	---	capture		Silent	SNP	39034579	39034579	8773	17	G	T	T	43	43	KRT20	T	2	2
HDAC5	10014	broad.mit.edu	37	17	42169555	42169555	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42169555G>T	uc002ifd.1	-	9	1228	c.1017C>A	c.(1015-1017)CCC>CCA	p.P339P	HDAC5_uc002ife.1_Silent_p.P339P|HDAC5_uc002iff.1_Silent_p.P340P|HDAC5_uc010czp.1_Silent_p.P339P|HDAC5_uc002ifh.2_Silent_p.P339P	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	339					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)														---	---	---	---	capture		Silent	SNP	42169555	42169555	7293	17	G	T	T	47	47	HDAC5	T	2	2
ATXN7L3	56970	broad.mit.edu	37	17	42272026	42272026	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42272026C>A	uc002iga.2	-	11	845	c.754G>T	c.(754-756)GAG>TAG	p.E252*	ATXN7L3_uc010wiv.1_Nonsense_Mutation_p.E34*|ATXN7L3_uc002ifz.2_Nonsense_Mutation_p.E259*	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	252	SCA7.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)														---	---	---	---	capture		Nonsense_Mutation	SNP	42272026	42272026	1238	17	C	A	A	31	31	ATXN7L3	A	5	1
C17orf104	284071	broad.mit.edu	37	17	42744414	42744414	+	Nonsense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42744414C>T	uc010czv.2	+	5	1135	c.1135C>T	c.(1135-1137)CAG>TAG	p.Q379*	C17orf104_uc002igy.1_Nonsense_Mutation_p.Q213*|C17orf104_uc002igz.3_Nonsense_Mutation_p.Q213*|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Nonsense_Mutation_p.Q213*	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	hypothetical protein LOC284071	379										central_nervous_system(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	42744414	42744414	1904	17	C	T	T	29	29	C17orf104	T	5	2
CRHR1	1394	broad.mit.edu	37	17	43912064	43912064	+	Silent	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43912064C>T	uc010dap.2	+	14	1534	c.1269C>T	c.(1267-1269)GCC>GCT	p.A423A	CRHR1_uc010wjx.1_Silent_p.A219A|CRHR1_uc002ijp.2_Missense_Mutation_p.P248L|CRHR1_uc002ijm.2_Silent_p.A394A|CRHR1_uc002ijn.2_Silent_p.A354A|CRHR1_uc010dar.2_Silent_p.A380A|CRHR1_uc010dao.2_Silent_p.A293A|CRHR1_uc010daq.2_Silent_p.A219A	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	423	Cytoplasmic (Potential).				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(3)	3	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)														---	---	---	---	capture		Silent	SNP	43912064	43912064	4010	17	C	T	T	21	21	CRHR1	T	2	2
MAPT	4137	broad.mit.edu	37	17	44101454	44101454	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44101454G>A	uc002ijr.3	+	14	2514	c.2194G>A	c.(2194-2196)GGC>AGC	p.G732S	MAPT_uc010dau.2_Missense_Mutation_p.G750S|MAPT_uc002ijs.3_Missense_Mutation_p.G415S|MAPT_uc002ijx.3_Missense_Mutation_p.G386S|MAPT_uc002ijt.3_Missense_Mutation_p.G357S|MAPT_uc002iju.3_Missense_Mutation_p.G326S|MAPT_uc002ijv.3_Missense_Mutation_p.G333S	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	732					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)																---	---	---	---	capture		Missense_Mutation	SNP	44101454	44101454	9680	17	G	A	A	39	39	MAPT	A	1	1
HOXB9	3219	broad.mit.edu	37	17	46703155	46703155	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46703155T>G	uc002inx.2	-	1	681	c.477A>C	c.(475-477)AAA>AAC	p.K159N		NM_024017	NP_076922	P17482	HXB9_HUMAN	homeobox B9	159					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	46703155	46703155	7600	17	T	G	G	64	64	HOXB9	G	4	4
KIF2B	84643	broad.mit.edu	37	17	51900675	51900675	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:51900675C>A	uc002iua.2	+	1	437	c.281C>A	c.(280-282)CCC>CAC	p.P94H	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	94					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8																		---	---	---	---	capture		Missense_Mutation	SNP	51900675	51900675	8609	17	C	A	A	22	22	KIF2B	A	2	2
KIF2B	84643	broad.mit.edu	37	17	51901022	51901022	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:51901022C>G	uc002iua.2	+	1	784	c.628C>G	c.(628-630)CAA>GAA	p.Q210E	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	210	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8																		---	---	---	---	capture		Missense_Mutation	SNP	51901022	51901022	8609	17	C	G	G	25	25	KIF2B	G	3	3
AKAP1	8165	broad.mit.edu	37	17	55184062	55184062	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:55184062G>T	uc002iux.2	+	2	1468	c.1237G>T	c.(1237-1239)GCC>TCC	p.A413S	AKAP1_uc010wnl.1_Missense_Mutation_p.A413S|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.A413S	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	413					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)																	---	---	---	---	capture		Missense_Mutation	SNP	55184062	55184062	448	17	G	T	T	46	46	AKAP1	T	2	2
SFRS1	6426	broad.mit.edu	37	17	56084313	56084313	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56084313C>A	uc002ivi.2	-	1	395	c.186G>T	c.(184-186)GAG>GAT	p.E62D	SFRS1_uc002ivj.2_Missense_Mutation_p.E62D	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	splicing factor, arginine/serine-rich 1 isoform	62	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding				0		Colorectal(1115;0.0691)		LUAD - Lung adenocarcinoma(1115;0.247)														---	---	---	---	capture		Missense_Mutation	SNP	56084313	56084313	14654	17	C	A	A	24	24	SFRS1	A	2	2
SFRS1	6426	broad.mit.edu	37	17	56084465	56084465	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56084465C>A	uc002ivi.2	-	1	243	c.34G>T	c.(34-36)GGG>TGG	p.G12W	SFRS1_uc002ivj.2_Missense_Mutation_p.G12W	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	splicing factor, arginine/serine-rich 1 isoform	12					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding				0		Colorectal(1115;0.0691)		LUAD - Lung adenocarcinoma(1115;0.247)														---	---	---	---	capture		Missense_Mutation	SNP	56084465	56084465	14654	17	C	A	A	24	24	SFRS1	A	2	2
TEX14	56155	broad.mit.edu	37	17	56634390	56634390	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56634390C>A	uc010dcz.1	-	33	4594	c.4476G>T	c.(4474-4476)CAG>CAT	p.Q1492H	TEX14_uc002iwr.1_Missense_Mutation_p.Q1486H|TEX14_uc002iws.1_Missense_Mutation_p.Q1446H|TEX14_uc010dda.1_Missense_Mutation_p.Q1226H	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	1492						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---	capture		Missense_Mutation	SNP	56634390	56634390	16305	17	C	A	A	32	32	TEX14	A	2	2
MRC2	9902	broad.mit.edu	37	17	60742095	60742095	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60742095A>G	uc002jad.2	+	2	707	c.305A>G	c.(304-306)AAC>AGC	p.N102S	MRC2_uc002jac.2_Missense_Mutation_p.N102S	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	102	Extracellular (Potential).|Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	60742095	60742095	10150	17	A	G	G	2	2	MRC2	G	4	4
MARCH10	162333	broad.mit.edu	37	17	60821758	60821758	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60821758C>A	uc010ddr.2	-	5	752	c.514G>T	c.(514-516)GTG>TTG	p.V172L	MARCH10_uc002jag.3_Missense_Mutation_p.V172L|MARCH10_uc010dds.2_Missense_Mutation_p.V210L|MARCH10_uc002jah.2_Missense_Mutation_p.V171L	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	172							ligase activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	60821758	60821758	9682	17	C	A	A	18	18	MARCH10	A	2	2
DCAF7	10238	broad.mit.edu	37	17	61666386	61666386	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61666386G>T	uc002jbc.2	+	8	1098	c.881G>T	c.(880-882)TGG>TTG	p.W294L	DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Missense_Mutation_p.W94L	NM_005828	NP_005819	P61962	DCAF7_HUMAN	WD-repeat protein	294	WD 4.				multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	61666386	61666386	4446	17	G	T	T	47	47	DCAF7	T	2	2
BPTF	2186	broad.mit.edu	37	17	65900897	65900897	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65900897G>T	uc002jgf.2	+	9	2814	c.2753G>T	c.(2752-2754)AGG>ATG	p.R918M	BPTF_uc002jge.2_Missense_Mutation_p.R1044M|BPTF_uc010wqm.1_Missense_Mutation_p.R981M	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1044					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---	capture		Missense_Mutation	SNP	65900897	65900897	1523	17	G	T	T	35	35	BPTF	T	2	2
KCNJ2	3759	broad.mit.edu	37	17	68171704	68171704	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:68171704T>C	uc010dfg.2	+	2	925	c.524T>C	c.(523-525)ATC>ACC	p.I175T	KCNJ2_uc002jir.2_Missense_Mutation_p.I175T	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	175	Helical; Name=M2; (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)																	---	---	---	---	capture		Missense_Mutation	SNP	68171704	68171704	8356	17	T	C	C	50	50	KCNJ2	C	4	4
KIAA0195	9772	broad.mit.edu	37	17	73488676	73488676	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73488676C>A	uc002jnz.3	+	15	1993	c.1718C>A	c.(1717-1719)TCC>TAC	p.S573Y	KIAA0195_uc010wsa.1_Missense_Mutation_p.S583Y|KIAA0195_uc010wsb.1_Missense_Mutation_p.S213Y|KIAA0195_uc002job.3_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	573					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	73488676	73488676	8467	17	C	A	A	30	30	KIAA0195	A	2	2
CANT1	124583	broad.mit.edu	37	17	76993182	76993182	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76993182C>A	uc002jwn.2	-	4	962	c.523G>T	c.(523-525)GGG>TGG	p.G175W	CANT1_uc002jwk.2_Missense_Mutation_p.G175W|CANT1_uc002jwj.2_Missense_Mutation_p.G175W|CANT1_uc002jwl.2_RNA|CANT1_uc002jwm.1_5'Flank	NM_001159772	NP_001153244	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	175	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity				0			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)					T	ETV4	prostate								---	---	---	---	capture		Missense_Mutation	SNP	76993182	76993182	2734	17	C	A	A	21	21	CANT1	A	2	2
TBCD	6904	broad.mit.edu	37	17	80858601	80858601	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80858601G>T	uc002kfz.2	+	18	1854	c.1724G>T	c.(1723-1725)TGG>TTG	p.W575L	TBCD_uc002kfx.1_Missense_Mutation_p.W558L|TBCD_uc002kfy.1_Missense_Mutation_p.W575L|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	575	HEAT 2.				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)															---	---	---	---	capture		Missense_Mutation	SNP	80858601	80858601	16159	17	G	T	T	47	47	TBCD	T	2	2
SMCHD1	23347	broad.mit.edu	37	18	2707859	2707859	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2707859C>T	uc002klm.3	+	17	2390	c.2201C>T	c.(2200-2202)CCA>CTA	p.P734L	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	734					chromosome organization		ATP binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	2707859	2707859	15286	18	C	T	T	21	21	SMCHD1	T	2	2
TCEB3B	51224	broad.mit.edu	37	18	44560934	44560934	+	Missense_Mutation	SNP	T	A	A	rs148199634		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44560934T>A	uc002lcr.1	-	1	1055	c.702A>T	c.(700-702)AAA>AAT	p.K234N	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	234					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	44560934	44560934	16208	18	T	A	A	60	60	TCEB3B	A	4	4
CCDC68	80323	broad.mit.edu	37	18	52586518	52586518	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:52586518C>T	uc002lfs.2	-	9	945	c.773G>A	c.(772-774)CGC>CAC	p.R258H	CCDC68_uc002lft.2_Missense_Mutation_p.R258H	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	258	Potential.									skin(1)	1				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)														---	---	---	---	capture		Missense_Mutation	SNP	52586518	52586518	2963	18	C	T	T	27	27	CCDC68	T	1	1
ADNP2	22850	broad.mit.edu	37	18	77894983	77894983	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77894983G>T	uc002lnw.2	+	4	2142	c.1687G>T	c.(1687-1689)GGG>TGG	p.G563W		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	563					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)														---	---	---	---	capture		Missense_Mutation	SNP	77894983	77894983	325	18	G	T	T	47	47	ADNP2	T	2	2
OR4F17	81099	broad.mit.edu	37	19	110720	110720	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:110720G>T	uc002loc.1	+	1	42	c.42G>T	c.(40-42)CAG>CAT	p.Q14H	OR4F17_uc002lob.1_Missense_Mutation_p.Q14H	NM_001005240	NP_001005240	Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Missense_Mutation	SNP	110720	110720	11470	19	G	T	T	35	35	OR4F17	T	2	2
CLEC4M	10332	broad.mit.edu	37	19	7830871	7830871	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7830871C>A	uc002mih.2	+	5	611	c.493C>A	c.(493-495)CTG>ATG	p.L165M	CLEC4M_uc010xjv.1_Missense_Mutation_p.L160M|CLEC4M_uc002mhy.2_Missense_Mutation_p.L132M|CLEC4M_uc010xjw.1_Missense_Mutation_p.L167M|CLEC4M_uc010dvt.2_Intron|CLEC4M_uc010dvs.2_Missense_Mutation_p.L164M|CLEC4M_uc010xjx.1_Missense_Mutation_p.L137M|CLEC4M_uc002mhz.2_Intron|CLEC4M_uc002mic.2_Missense_Mutation_p.L160M|CLEC4M_uc002mia.2_Intron	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M isoform	165	Extracellular (Probable).|7 X approximate tandem repeats.|3.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	7830871	7830871	3656	19	C	A	A	28	28	CLEC4M	A	2	2
MUC16	94025	broad.mit.edu	37	19	9063042	9063042	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9063042G>T	uc002mkp.2	-	3	24608	c.24404C>A	c.(24403-24405)GCC>GAC	p.A8135D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8137	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Missense_Mutation	SNP	9063042	9063042	10367	19	G	T	T	42	42	MUC16	T	2	2
MUC16	94025	broad.mit.edu	37	19	9063975	9063975	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9063975T>C	uc002mkp.2	-	3	23675	c.23471A>G	c.(23470-23472)GAG>GGG	p.E7824G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7826	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Missense_Mutation	SNP	9063975	9063975	10367	19	T	C	C	54	54	MUC16	C	4	4
ZNF560	147741	broad.mit.edu	37	19	9578544	9578544	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9578544G>T	uc002mlp.1	-	10	1289	c.1079C>A	c.(1078-1080)CCT>CAT	p.P360H	ZNF560_uc010dwr.1_Missense_Mutation_p.P254H	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	360	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	9578544	9578544	18586	19	G	T	T	35	35	ZNF560	T	2	2
ZNF562	54811	broad.mit.edu	37	19	9764539	9764539	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9764539C>A	uc010xks.1	-	6	530	c.367G>T	c.(367-369)GGA>TGA	p.G123*	ZNF562_uc002mly.2_Nonsense_Mutation_p.G123*|ZNF562_uc002mlx.2_Nonsense_Mutation_p.G51*|ZNF562_uc010xkt.1_Nonsense_Mutation_p.G86*|ZNF562_uc010xku.1_Nonsense_Mutation_p.G54*|ZNF562_uc010xkv.1_Nonsense_Mutation_p.G122*|ZNF562_uc010xkw.1_Nonsense_Mutation_p.G7*	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	9764539	9764539	18588	19	C	A	A	21	21	ZNF562	A	5	2
OR7A5	26659	broad.mit.edu	37	19	14938881	14938881	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14938881G>T	uc002mzw.2	-	1	396	c.173C>A	c.(172-174)CCC>CAC	p.P58H	OR7A5_uc010xoa.1_Missense_Mutation_p.P58H	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	14938881	14938881	11627	19	G	T	T	43	43	OR7A5	T	2	2
C19orf44	84167	broad.mit.edu	37	19	16612105	16612105	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16612105G>A	uc002neh.1	+	2	575	c.502G>A	c.(502-504)GCG>ACG	p.A168T	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.A168T|C19orf44_uc002neg.2_Missense_Mutation_p.A168T|C19orf44_uc010eai.1_RNA	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	hypothetical protein LOC84167	168											0																		---	---	---	---	capture		Missense_Mutation	SNP	16612105	16612105	1991	19	G	A	A	38	38	C19orf44	A	1	1
KIAA1683	80726	broad.mit.edu	37	19	18368721	18368721	+	Missense_Mutation	SNP	G	A	A	rs146173511		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18368721G>A	uc002nin.2	-	4	3028	c.2812C>T	c.(2812-2814)CGT>TGT	p.R938C	PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.R1125C|KIAA1683_uc010xqe.1_Missense_Mutation_p.R892C|KIAA1683_uc010xqf.1_RNA	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	938	IQ 2.					mitochondrion				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	18368721	18368721	8561	19	G	A	A	39	39	KIAA1683	A	1	1
ZNF99	7652	broad.mit.edu	37	19	22940719	22940719	+	Silent	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22940719A>T	uc010xrh.1	-	5	1719	c.1719T>A	c.(1717-1719)CTT>CTA	p.L573L		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)																---	---	---	---	capture		Silent	SNP	22940719	22940719	18808	19	A	T	T	13	13	ZNF99	T	4	4
ZNF91	7644	broad.mit.edu	37	19	23543751	23543751	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:23543751T>A	uc002nre.2	-	4	2143	c.2030A>T	c.(2029-2031)AAG>ATG	p.K677M	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.K645M	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	677	C2H2-type 19.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)																---	---	---	---	capture		Missense_Mutation	SNP	23543751	23543751	18804	19	T	A	A	56	56	ZNF91	A	4	4
ZNF91	7644	broad.mit.edu	37	19	23544675	23544675	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:23544675T>A	uc002nre.2	-	4	1219	c.1106A>T	c.(1105-1107)AAG>ATG	p.K369M	ZNF91_uc010xrj.1_Missense_Mutation_p.K337M	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	369	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)																---	---	---	---	capture		Missense_Mutation	SNP	23544675	23544675	18804	19	T	A	A	56	56	ZNF91	A	4	4
ANKRD27	84079	broad.mit.edu	37	19	33113351	33113351	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33113351G>T	uc002ntn.1	-	18	1960	c.1804C>A	c.(1804-1806)CTC>ATC	p.L602I		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	602	ANK 6.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)																	---	---	---	---	capture		Missense_Mutation	SNP	33113351	33113351	660	19	G	T	T	35	35	ANKRD27	T	2	2
SLC7A9	11136	broad.mit.edu	37	19	33333196	33333196	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33333196G>T	uc002ntv.3	-	11	1219	c.1102C>A	c.(1102-1104)CCT>ACT	p.P368T	SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.P368T|SLC7A9_uc002ntw.3_Missense_Mutation_p.P159T	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	368	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)													---	---	---	---	capture		Missense_Mutation	SNP	33333196	33333196	15202	19	G	T	T	43	43	SLC7A9	T	2	2
LRP3	4037	broad.mit.edu	37	19	33695657	33695657	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33695657C>A	uc010edh.2	+	4	467	c.374C>A	c.(373-375)CCA>CAA	p.P125Q	LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'UTR	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	125	Extracellular (Potential).|CUB 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)																	---	---	---	---	capture		Missense_Mutation	SNP	33695657	33695657	9331	19	C	A	A	21	21	LRP3	A	2	2
EIF3K	27335	broad.mit.edu	37	19	39116734	39116734	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39116734G>T	uc002oiz.1	+	4	533	c.346G>T	c.(346-348)GCC>TCC	p.A116S	EIF3K_uc010xuh.1_Missense_Mutation_p.A116S|EIF3K_uc010xui.1_Missense_Mutation_p.A29S	NM_013234	NP_037366	Q9UBQ5	EIF3K_HUMAN	eukaryotic translation initiation factor 3,	116					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---	capture		Missense_Mutation	SNP	39116734	39116734	5212	19	G	T	T	42	42	EIF3K	T	2	2
FBL	2091	broad.mit.edu	37	19	40330880	40330880	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40330880G>T	uc002omn.2	-	4	485	c.371C>A	c.(370-372)TCG>TAG	p.S124*	FBL_uc002omm.1_Nonsense_Mutation_p.S38*|FBL_uc002omo.2_Nonsense_Mutation_p.S123*|FBL_uc010egr.2_Nonsense_Mutation_p.S124*	NM_001436	NP_001427	P22087	FBRL_HUMAN	fibrillarin	124					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			ovary(1)	1	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)														---	---	---	---	capture		Nonsense_Mutation	SNP	40330880	40330880	5932	19	G	T	T	37	37	FBL	T	5	1
CYP2A7	1549	broad.mit.edu	37	19	41383104	41383104	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41383104G>T	uc002opm.2	-	7	1694	c.1152C>A	c.(1150-1152)TTC>TTA	p.F384L	CYP2A7_uc002opo.2_Missense_Mutation_p.F384L|CYP2A7_uc002opn.2_Missense_Mutation_p.F333L	NM_000764	NP_000755	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A,	384						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)															---	---	---	---	capture		Missense_Mutation	SNP	41383104	41383104	4328	19	G	T	T	41	41	CYP2A7	T	2	2
PSG2	5670	broad.mit.edu	37	19	43579742	43579742	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43579742G>T	uc002ovr.2	-	3	566	c.473C>A	c.(472-474)CCC>CAC	p.P158H	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.P158H|PSG2_uc010eiq.1_Missense_Mutation_p.P158H|PSG2_uc002ovs.3_Missense_Mutation_p.P158H|PSG2_uc002ovt.3_Missense_Mutation_p.P158H	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	158	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)																---	---	---	---	capture		Missense_Mutation	SNP	43579742	43579742	13108	19	G	T	T	43	43	PSG2	T	2	2
PSG9	5678	broad.mit.edu	37	19	43772283	43772283	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43772283C>A	uc002owd.3	-	2	182	c.83G>T	c.(82-84)TGG>TTG	p.W28L	PSG9_uc002owe.3_Missense_Mutation_p.W28L|PSG9_uc010xwm.1_Missense_Mutation_p.W28L|PSG9_uc002owf.3_Missense_Mutation_p.W28L|PSG9_uc002owg.2_Missense_Mutation_p.W28L|PSG9_uc002owh.2_Missense_Mutation_p.W28L	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	28					female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)																---	---	---	---	capture		Missense_Mutation	SNP	43772283	43772283	13115	19	C	A	A	21	21	PSG9	A	2	2
ZNF234	10780	broad.mit.edu	37	19	44661692	44661692	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44661692G>T	uc002oym.2	+	6	1830	c.1523G>T	c.(1522-1524)GGG>GTG	p.G508V	ZNF234_uc002oyl.3_Missense_Mutation_p.G508V	NM_006630	NP_006621	Q14588	ZN234_HUMAN	zinc finger protein 234	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0435)																---	---	---	---	capture		Missense_Mutation	SNP	44661692	44661692	18378	19	G	T	T	43	43	ZNF234	T	2	2
DMWD	1762	broad.mit.edu	37	19	46287520	46287520	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46287520G>T	uc002pdj.1	-	5	2052	c.2006C>A	c.(2005-2007)CCG>CAG	p.P669Q	DMPK_uc002pdf.1_5'Flank|DMPK_uc002pdg.1_5'Flank|DMPK_uc002pdh.1_5'Flank|DMPK_uc002pdi.1_5'Flank|DMPK_uc010xxt.1_5'Flank|DMWD_uc002pdk.1_Missense_Mutation_p.P644Q|DMWD_uc010eko.1_3'UTR	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	669					meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)														---	---	---	---	capture		Missense_Mutation	SNP	46287520	46287520	4775	19	G	T	T	39	39	DMWD	T	1	1
CARD8	22900	broad.mit.edu	37	19	48722148	48722148	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48722148C>A	uc002pie.3	-	8	1278	c.965G>T	c.(964-966)TGG>TTG	p.W322L	CARD8_uc002pii.3_Intron|CARD8_uc002pid.1_RNA|CARD8_uc010xzi.1_Missense_Mutation_p.W323L|CARD8_uc010els.2_Intron|CARD8_uc010xzj.1_Missense_Mutation_p.W428L|CARD8_uc010xzk.1_Missense_Mutation_p.W347L|CARD8_uc002pif.3_Intron|CARD8_uc002pig.3_Missense_Mutation_p.W153L|CARD8_uc002pih.3_Missense_Mutation_p.W378L|CARD8_uc010xzl.1_Missense_Mutation_p.W378L|CARD8_uc010xzm.1_Intron	NM_014959	NP_055774	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	322					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity				0		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)														---	---	---	---	capture		Missense_Mutation	SNP	48722148	48722148	2770	19	C	A	A	21	21	CARD8	A	2	2
TRPM4	54795	broad.mit.edu	37	19	49692232	49692232	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49692232G>T	uc002pmw.2	+	14	1975	c.1903G>T	c.(1903-1905)GAG>TAG	p.E635*	TRPM4_uc010emu.2_Nonsense_Mutation_p.E635*|TRPM4_uc010yak.1_Nonsense_Mutation_p.E99*|TRPM4_uc002pmx.2_Nonsense_Mutation_p.E461*|TRPM4_uc010emv.2_Nonsense_Mutation_p.E520*|TRPM4_uc010yal.1_Nonsense_Mutation_p.E281*|TRPM4_uc002pmy.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel,	635	Cytoplasmic (Potential).				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)														---	---	---	---	capture		Nonsense_Mutation	SNP	49692232	49692232	17139	19	G	T	T	45	45	TRPM4	T	5	2
SIGLEC8	27181	broad.mit.edu	37	19	51958690	51958690	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51958690G>T	uc002pwt.2	-	4	1100	c.1033C>A	c.(1033-1035)CTG>ATG	p.L345M	SIGLEC8_uc010yda.1_Missense_Mutation_p.L236M|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.L252M	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8 precursor	345	Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)														---	---	---	---	capture		Missense_Mutation	SNP	51958690	51958690	14809	19	G	T	T	35	35	SIGLEC8	T	2	2
ZNF432	9668	broad.mit.edu	37	19	52537242	52537242	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52537242T>A	uc002pyk.2	-	5	2008	c.1690A>T	c.(1690-1692)ACA>TCA	p.T564S		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)														---	---	---	---	capture		Missense_Mutation	SNP	52537242	52537242	18499	19	T	A	A	57	57	ZNF432	A	4	4
ZNF468	90333	broad.mit.edu	37	19	53344201	53344201	+	Missense_Mutation	SNP	T	C	C	rs140223089		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53344201T>C	uc002qaf.2	-	4	1497	c.1346A>G	c.(1345-1347)CAG>CGG	p.Q449R	ZNF468_uc002qae.2_Missense_Mutation_p.Q396R	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN	zinc finger protein ZNF468 isoform 2	449	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.0358)														---	---	---	---	capture		Missense_Mutation	SNP	53344201	53344201	18521	19	T	C	C	55	55	ZNF468	C	4	4
LILRB1	10859	broad.mit.edu	37	19	55143986	55143986	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55143986C>A	uc002qgj.2	+	7	1073	c.733C>A	c.(733-735)CAG>AAG	p.Q245K	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.Q245K|LILRB1_uc002qgk.2_Missense_Mutation_p.Q245K|LILRB1_uc002qgm.2_Missense_Mutation_p.Q245K|LILRB1_uc010erq.2_Missense_Mutation_p.Q245K|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	245	Ig-like C2-type 3.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)											HNSCC(37;0.09)			---	---	---	---	capture		Missense_Mutation	SNP	55143986	55143986	9116	19	C	A	A	25	25	LILRB1	A	2	2
KIR2DL1	3802	broad.mit.edu	37	19	55286826	55286826	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55286826G>T	uc002qhb.1	+	4	618	c.580G>T	c.(580-582)GGG>TGG	p.G194W	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_RNA|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.G194W	NM_014218	NP_055033	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two	194	Extracellular (Potential).|Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)														---	---	---	---	capture		Missense_Mutation	SNP	55286826	55286826	8628	19	G	T	T	35	35	KIR2DL1	T	2	2
SLC27A5	10998	broad.mit.edu	37	19	59012656	59012656	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:59012656G>T	uc002qtc.2	-	4	1289	c.1179C>A	c.(1177-1179)CCC>CCA	p.P393P	SLC27A5_uc002qtb.2_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	393	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)														---	---	---	---	capture		Silent	SNP	59012656	59012656	15026	19	G	T	T	43	43	SLC27A5	T	2	2
FKBP1B	2281	broad.mit.edu	37	2	24276774	24276774	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24276774A>G	uc002rer.2	+	2	176	c.40A>G	c.(40-42)AGG>GGG	p.R14G	FKBP1B_uc002res.2_Missense_Mutation_p.R14G|FKBP1B_uc002ret.2_RNA|FKBP1B_uc002reu.2_RNA	NM_004116	NP_004107	P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa isoform a	14					'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Missense_Mutation	SNP	24276774	24276774	6145	2	A	G	G	3	3	FKBP1B	G	4	4
OTOF	9381	broad.mit.edu	37	2	26717816	26717816	+	Nonsense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26717816G>C	uc002rhk.2	-	9	1018	c.891C>G	c.(889-891)TAC>TAG	p.Y297*		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	297	Cytoplasmic (Potential).|C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Nonsense_Mutation	SNP	26717816	26717816	11715	2	G	C	C	48	48	OTOF	C	5	3
PPM1G	5496	broad.mit.edu	37	2	27605472	27605472	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27605472C>A	uc002rkl.2	-	9	1309	c.1202G>T	c.(1201-1203)GGG>GTG	p.G401V	ZNF513_uc002rkj.2_5'Flank|ZNF513_uc002rkk.2_5'Flank|PPM1G_uc002rkm.2_Missense_Mutation_p.G182V	NM_002707	NP_002698	O15355	PPM1G_HUMAN	protein phosphatase 1G	401					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	27605472	27605472	12775	2	C	A	A	22	22	PPM1G	A	2	2
C2orf16	84226	broad.mit.edu	37	2	27800102	27800102	+	Silent	SNP	A	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27800102A>G	uc002rkz.3	+	1	714	c.663A>G	c.(661-663)TTA>TTG	p.L221L		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	221										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Silent	SNP	27800102	27800102	2243	2	A	G	G	15	15	C2orf16	G	4	4
GALNT14	79623	broad.mit.edu	37	2	31133823	31133823	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31133823C>T	uc002rnr.2	-	15	2222	c.1603G>A	c.(1603-1605)GTC>ATC	p.V535I	GALNT14_uc002rnq.2_Missense_Mutation_p.V515I|GALNT14_uc002rns.2_Missense_Mutation_p.V540I|GALNT14_uc010ymr.1_Missense_Mutation_p.V500I	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	535	Lumenal (Potential).|Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	31133823	31133823	6476	2	C	T	T	19	19	GALNT14	T	1	1
BIRC6	57448	broad.mit.edu	37	2	32774511	32774511	+	Silent	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32774511C>G	uc010ezu.2	+	65	13241	c.13107C>G	c.(13105-13107)CTC>CTG	p.L4369L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4369					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Silent	SNP	32774511	32774511	1463	2	C	G	G	29	29	BIRC6	G	3	3
HEATR5B	54497	broad.mit.edu	37	2	37283623	37283623	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37283623G>T	uc002rpp.1	-	16	2455	c.2359C>A	c.(2359-2361)CTT>ATT	p.L787I		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	787							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)																---	---	---	---	capture		Missense_Mutation	SNP	37283623	37283623	7315	2	G	T	T	35	35	HEATR5B	T	2	2
THADA	63892	broad.mit.edu	37	2	43520275	43520275	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43520275C>A	uc002rsw.3	-	32	4868	c.4516G>T	c.(4516-4518)GCC>TCC	p.A1506S	THADA_uc010far.2_Missense_Mutation_p.A701S|THADA_uc002rsx.3_Missense_Mutation_p.A1506S|THADA_uc002rsy.3_RNA	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1506							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)																---	---	---	---	capture		Missense_Mutation	SNP	43520275	43520275	16368	2	C	A	A	26	26	THADA	A	2	2
MSH2	4436	broad.mit.edu	37	2	47637402	47637402	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:47637402C>A	uc002rvy.1	+	3	604	c.536C>A	c.(535-537)CCT>CAT	p.P179H	MSH2_uc010yoh.1_Missense_Mutation_p.P113H|MSH2_uc002rvz.2_Missense_Mutation_p.P179H|MSH2_uc010fbg.2_Missense_Mutation_p.P39H|MSH2_uc010fbf.1_Intron	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	179					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding			large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)					D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---	capture		Missense_Mutation	SNP	47637402	47637402	10263	2	C	A	A	24	24	MSH2	A	2	2
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873715	48873715	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48873715G>C	uc010yol.1	+	5	2530	c.2483G>C	c.(2482-2484)AGT>ACT	p.S828T	STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.S875T|GTF2A1L_uc002rws.1_Missense_Mutation_p.S171T|GTF2A1L_uc010yom.1_Missense_Mutation_p.S137T|GTF2A1L_uc002rwt.2_Missense_Mutation_p.S171T	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	828					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---	capture		Missense_Mutation	SNP	48873715	48873715	15837	2	G	C	C	36	36	STON1-GTF2A1L	C	3	3
FSHR	2492	broad.mit.edu	37	2	49189932	49189932	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:49189932G>T	uc002rww.2	-	10	2102	c.2028C>A	c.(2026-2028)CCC>CCA	p.P676P	FSHR_uc002rwx.2_Silent_p.P614P|FSHR_uc010fbn.2_Silent_p.P650P	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	676	Cytoplasmic (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									Gonadal_Dysgenesis_46_XX				---	---	---	---	capture		Silent	SNP	49189932	49189932	6324	2	G	T	T	47	47	FSHR	T	2	2
ASB3	51130	broad.mit.edu	37	2	53941584	53941584	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:53941584G>T	uc002rxg.1	-	7	1052	c.917C>A	c.(916-918)CCA>CAA	p.P306Q	ASB3_uc002rxh.1_Missense_Mutation_p.P233Q|ASB3_uc002rxi.3_Missense_Mutation_p.P344Q|ASB3_uc010yoo.1_Missense_Mutation_p.P223Q	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	306	ANK 9.				intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---	capture		Missense_Mutation	SNP	53941584	53941584	1042	2	G	T	T	47	47	ASB3	T	2	2
GPR75	10936	broad.mit.edu	37	2	54081850	54081850	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54081850G>T	uc002rxo.3	-	2	315	c.44C>A	c.(43-45)TCG>TAG	p.S15*	ASB3_uc002rxi.3_Intron	NM_006794	NP_006785	O95800	GPR75_HUMAN	G protein-coupled receptor 75	15	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|skin(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---	capture		Nonsense_Mutation	SNP	54081850	54081850	6983	2	G	T	T	37	37	GPR75	T	5	1
BCL11A	53335	broad.mit.edu	37	2	60687618	60687618	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:60687618C>A	uc002sae.1	-	4	2657	c.2429G>T	c.(2428-2430)AGC>ATC	p.S810I	BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_Missense_Mutation_p.S658I|BCL11A_uc002saf.1_Missense_Mutation_p.S776I	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	810	C2H2-type 6.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)					T	IGH@	B-CLL								---	---	---	---	capture		Missense_Mutation	SNP	60687618	60687618	1384	2	C	A	A	28	28	BCL11A	A	2	2
PUS10	150962	broad.mit.edu	37	2	61175269	61175269	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61175269G>T	uc010fci.2	-	16	1420	c.1360C>A	c.(1360-1362)CTG>ATG	p.L454M	PUS10_uc002sao.2_Missense_Mutation_p.L454M|PUS10_uc010ypk.1_Missense_Mutation_p.L231M	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	454	RNA binding thumb loop (Potential).				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)															---	---	---	---	capture		Missense_Mutation	SNP	61175269	61175269	13289	2	G	T	T	35	35	PUS10	T	2	2
KIAA1841	84542	broad.mit.edu	37	2	61298890	61298890	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61298890G>T	uc002saw.3	+	4	603	c.300G>T	c.(298-300)CAG>CAT	p.Q100H	KIAA1841_uc002sax.3_Translation_Start_Site|KIAA1841_uc002say.2_Missense_Mutation_p.Q100H|KIAA1841_uc002sav.3_Missense_Mutation_p.Q100H	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	100											0			Epithelial(17;0.193)															---	---	---	---	capture		Missense_Mutation	SNP	61298890	61298890	8572	2	G	T	T	35	35	KIAA1841	T	2	2
KIAA1841	84542	broad.mit.edu	37	2	61324939	61324939	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61324939C>A	uc002saw.3	+	12	1620	c.1317C>A	c.(1315-1317)CCC>CCA	p.P439P	KIAA1841_uc002sax.3_Silent_p.P293P|KIAA1841_uc002say.2_Silent_p.P439P	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	439											0			Epithelial(17;0.193)															---	---	---	---	capture		Silent	SNP	61324939	61324939	8572	2	C	A	A	24	24	KIAA1841	A	2	2
AHSA2	130872	broad.mit.edu	37	2	61412678	61412678	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61412678C>A	uc002sbc.1	+	4	1703	c.117C>A	c.(115-117)CCC>CCA	p.P39P	AHSA2_uc002sbb.1_RNA	NM_152392	NP_689605	Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein	201					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)	1			Epithelial(17;0.0994)															---	---	---	---	capture		Silent	SNP	61412678	61412678	422	2	C	A	A	21	21	AHSA2	A	2	2
USP34	9736	broad.mit.edu	37	2	61597467	61597467	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61597467C>A	uc002sbe.2	-	10	1262	c.1240G>T	c.(1240-1242)GCT>TCT	p.A414S		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	414					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	61597467	61597467	17629	2	C	A	A	26	26	USP34	A	2	2
CCT4	10575	broad.mit.edu	37	2	62104064	62104064	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:62104064G>T	uc002sbo.2	-	7	917	c.768C>A	c.(766-768)CCC>CCA	p.P256P	CCT4_uc010ypp.1_Silent_p.P200P|CCT4_uc010ypq.1_Silent_p.P106P|CCT4_uc010ypr.1_Silent_p.P200P|CCT4_uc010yps.1_Silent_p.P226P	NM_006430	NP_006421	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	256					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			ovary(2)	2	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)															---	---	---	---	capture		Silent	SNP	62104064	62104064	3082	2	G	T	T	47	47	CCT4	T	2	2
COMMD1	150684	broad.mit.edu	37	2	62132981	62132981	+	Missense_Mutation	SNP	G	T	T	rs139710493	byFrequency	TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:62132981G>T	uc002sbp.2	+	1	179	c.168G>T	c.(166-168)AGG>AGT	p.R56S		NM_152516	NP_689729	Q8N668	COMD1_HUMAN	MURR1	56					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			ovary(1)	1	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)															---	---	---	---	capture		Missense_Mutation	SNP	62132981	62132981	3852	2	G	T	T	43	43	COMMD1	T	2	2
NAGK	55577	broad.mit.edu	37	2	71300618	71300618	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71300618G>T	uc002shp.3	+	6	879	c.473G>T	c.(472-474)TGG>TTG	p.W158L	NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Missense_Mutation_p.W9L|NAGK_uc002shr.2_Missense_Mutation_p.W107L	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN	N-Acetylglucosamine kinase	158					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding				0					N-Acetyl-D-glucosamine(DB00141)													---	---	---	---	capture		Missense_Mutation	SNP	71300618	71300618	10538	2	G	T	T	47	47	NAGK	T	2	2
ALMS1	7840	broad.mit.edu	37	2	73680852	73680852	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73680852G>T	uc002sje.1	+	10	7312	c.7201G>T	c.(7201-7203)GGG>TGG	p.G2401W	ALMS1_uc002sjf.1_Missense_Mutation_p.G2357W|ALMS1_uc002sjg.2_Missense_Mutation_p.G1787W|ALMS1_uc002sjh.1_Missense_Mutation_p.G1787W	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2399					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	73680852	73680852	538	2	G	T	T	47	47	ALMS1	T	2	2
SLC4A5	57835	broad.mit.edu	37	2	74482935	74482935	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74482935A>T	uc002sko.1	-	8	994	c.992T>A	c.(991-993)CTG>CAG	p.L331Q	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.L331Q|SLC4A5_uc010ffc.1_Missense_Mutation_p.L331Q|SLC4A5_uc002skp.1_Missense_Mutation_p.L267Q|SLC4A5_uc002sks.1_Missense_Mutation_p.L331Q	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	sodium bicarbonate transporter 4 isoform a	331	Cytoplasmic (Potential).					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	74482935	74482935	15154	2	A	T	T	7	7	SLC4A5	T	4	4
ARID5A	10865	broad.mit.edu	37	2	97217381	97217381	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97217381G>A	uc002swe.2	+	7	1216	c.1116G>A	c.(1114-1116)TTG>TTA	p.L372L	ARID5A_uc010yuq.1_Silent_p.L320L|ARID5A_uc002swf.2_Silent_p.L208L|ARID5A_uc002swg.2_Silent_p.L320L	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A	372					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding				0																		---	---	---	---	capture		Silent	SNP	97217381	97217381	936	2	G	A	A	47	47	ARID5A	A	2	2
REV1	51455	broad.mit.edu	37	2	100079080	100079080	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:100079080C>T	uc002tad.2	-	3	271	c.59G>A	c.(58-60)GGG>GAG	p.G20E	REV1_uc002tac.2_Missense_Mutation_p.G20E|REV1_uc002tae.1_5'UTR	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	20					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2													DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---	capture		Missense_Mutation	SNP	100079080	100079080	13709	2	C	T	T	22	22	REV1	T	2	2
BUB1	699	broad.mit.edu	37	2	111398885	111398885	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:111398885C>A	uc002tgc.2	-	22	2894	c.2782G>T	c.(2782-2784)GGA>TGA	p.G928*	BUB1_uc010yxh.1_Nonsense_Mutation_p.G908*|BUB1_uc010fkb.2_Intron	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	928	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)														---	---	---	---	capture		Nonsense_Mutation	SNP	111398885	111398885	1604	2	C	A	A	23	23	BUB1	A	5	1
MYO7B	4648	broad.mit.edu	37	2	128387373	128387373	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128387373C>A	uc002top.2	+	34	4753	c.4700C>A	c.(4699-4701)ACG>AAG	p.T1567K	MYO7B_uc002tor.1_Missense_Mutation_p.T420K	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1567	SH3 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)														---	---	---	---	capture		Missense_Mutation	SNP	128387373	128387373	10478	2	C	A	A	19	19	MYO7B	A	1	1
UBXN4	23190	broad.mit.edu	37	2	136530083	136530083	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136530083G>C	uc002tur.2	+	9	1227	c.916G>C	c.(916-918)GAA>CAA	p.E306Q	UBXN4_uc002tus.2_Missense_Mutation_p.E72Q	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	UBX domain containing 2	306	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	136530083	136530083	17474	2	G	C	C	41	41	UBXN4	C	3	3
THSD7B	80731	broad.mit.edu	37	2	138208577	138208577	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:138208577T>A	uc002tva.1	+	14	3029	c.3029T>A	c.(3028-3030)CTG>CAG	p.L1010Q	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	138208577	138208577	16408	2	T	A	A	55	55	THSD7B	A	4	4
NXPH2	11249	broad.mit.edu	37	2	139429176	139429176	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:139429176T>A	uc002tvi.2	-	2	111	c.111A>T	c.(109-111)AAA>AAT	p.K37N		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	37	II.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)														---	---	---	---	capture		Missense_Mutation	SNP	139429176	139429176	11196	2	T	A	A	56	56	NXPH2	A	4	4
ZEB2	9839	broad.mit.edu	37	2	145161578	145161578	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:145161578C>A	uc002tvu.2	-	6	1192	c.712G>T	c.(712-714)GAA>TAA	p.E238*	ZEB2_uc002tvv.2_Nonsense_Mutation_p.E232*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.E209*|ZEB2_uc010fnp.2_Nonsense_Mutation_p.E146*|ZEB2_uc010fnq.1_Nonsense_Mutation_p.E267*	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	238						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)														---	---	---	---	capture		Nonsense_Mutation	SNP	145161578	145161578	18212	2	C	A	A	29	29	ZEB2	A	5	2
ACVR2A	92	broad.mit.edu	37	2	148602722	148602722	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:148602722A>G	uc002twg.2	+	2	270	c.1A>G	c.(1-3)ATG>GTG	p.M1V	ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Missense_Mutation_p.M1V	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	1					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)														---	---	---	---	capture		Missense_Mutation	SNP	148602722	148602722	224	2	A	G	G	4	4	ACVR2A	G	4	4
NEB	4703	broad.mit.edu	37	2	152580773	152580773	+	Splice_Site	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152580773C>A	uc010fnx.2	-	8	803	c.612_splice	c.e8+1	p.K204_splice		NM_004543	NP_004534			nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---	capture		Splice_Site	SNP	152580773	152580773	10701	2	C	A	A	18	18	NEB	A	5	2
TANC1	85461	broad.mit.edu	37	2	160027123	160027123	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160027123G>T	uc002uag.2	+	10	1432	c.1158G>T	c.(1156-1158)GTG>GTT	p.V386V	TANC1_uc010fol.1_Silent_p.V280V|TANC1_uc010zcm.1_Silent_p.V378V|TANC1_uc010fom.1_Silent_p.V192V	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	386						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	160027123	160027123	16065	2	G	T	T	47	47	TANC1	T	2	2
DPP4	1803	broad.mit.edu	37	2	162865781	162865781	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162865781C>A	uc002ubz.2	-	21	2418	c.1857G>T	c.(1855-1857)GTG>GTT	p.V619V	DPP4_uc010fpb.2_Silent_p.V295V	NM_001935	NP_001926	P27487	DPP4_HUMAN	dipeptidylpeptidase IV	619	Extracellular (Potential).				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			ovary(3)	3					Sitagliptin(DB01261)													---	---	---	---	capture		Silent	SNP	162865781	162865781	4913	2	C	A	A	21	21	DPP4	A	2	2
GCA	25801	broad.mit.edu	37	2	163212958	163212958	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163212958G>T	uc002ucg.2	+	4	449	c.273G>T	c.(271-273)TTG>TTT	p.L91F	GCA_uc010zcu.1_Missense_Mutation_p.L72F	NM_012198	NP_036330	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	91	EF-hand 2.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	163212958	163212958	6549	2	G	T	T	47	47	GCA	T	2	2
KCNH7	90134	broad.mit.edu	37	2	163693137	163693137	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163693137C>A	uc002uch.1	-	2	429	c.217G>T	c.(217-219)GAG>TAG	p.E73*	KCNH7_uc002uci.2_Nonsense_Mutation_p.E73*	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	73	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)													---	---	---	---	capture		Nonsense_Mutation	SNP	163693137	163693137	8342	2	C	A	A	31	31	KCNH7	A	5	1
SCN7A	6332	broad.mit.edu	37	2	167297992	167297992	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:167297992C>G	uc002udu.1	-	14	2198	c.2071G>C	c.(2071-2073)GAG>CAG	p.E691Q	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	691					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	167297992	167297992	14405	2	C	G	G	32	32	SCN7A	G	3	3
SCRN3	79634	broad.mit.edu	37	2	175265857	175265857	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175265857A>G	uc002uiq.2	+	4	569	c.481A>G	c.(481-483)AGG>GGG	p.R161G	SCRN3_uc010zen.1_Missense_Mutation_p.R154G|SCRN3_uc010zeo.1_Intron	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	secernin 3	161					proteolysis		dipeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	175265857	175265857	14422	2	A	G	G	15	15	SCRN3	G	4	4
NFE2L2	4780	broad.mit.edu	37	2	178098944	178098944	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178098944C>T	uc002ulh.3	-	2	656	c.101G>A	c.(100-102)CGA>CAA	p.R34Q	NFE2L2_uc002ulg.3_Missense_Mutation_p.R18Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.R18Q|NFE2L2_uc002uli.3_Missense_Mutation_p.R18Q|NFE2L2_uc010fra.2_Missense_Mutation_p.R18Q|NFE2L2_uc010frb.2_Missense_Mutation_p.R18Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	34					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)					Mis		NSCLC|HNSCC					HNSCC(56;0.16)			---	---	---	---	capture		Missense_Mutation	SNP	178098944	178098944	10768	2	C	T	T	31	31	NFE2L2	T	1	1
TTN	7273	broad.mit.edu	37	2	179414186	179414186	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179414186G>T	uc010zfg.1	-	288	84687	c.84463C>A	c.(84463-84465)CCT>ACT	p.P28155T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P21850T|TTN_uc010zfi.1_Missense_Mutation_p.P21783T|TTN_uc010zfj.1_Missense_Mutation_p.P21658T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29082							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)															---	---	---	---	capture		Missense_Mutation	SNP	179414186	179414186	17290	2	G	T	T	43	43	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179582536	179582536	+	Silent	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179582536C>T	uc010zfg.1	-	84	21557	c.21333G>A	c.(21331-21333)GCG>GCA	p.A7111A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A3772A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Silent	SNP	179582536	179582536	17290	2	C	T	T	27	27	TTN	T	1	1
TTN	7273	broad.mit.edu	37	2	179591833	179591833	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179591833G>T	uc010zfg.1	-	66	16751	c.16527C>A	c.(16525-16527)ACC>ACA	p.T5509T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2170T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6436							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)															---	---	---	---	capture		Silent	SNP	179591833	179591833	17290	2	G	T	T	47	47	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179604759	179604759	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179604759G>T	uc010zfh.1	-	46	12912	c.12688C>A	c.(12688-12690)CGG>AGG	p.R4230R	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.R4163R|TTN_uc010zfj.1_Silent_p.R4038R|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Silent	SNP	179604759	179604759	17290	2	G	T	T	39	39	TTN	T	1	1
CCDC141	285025	broad.mit.edu	37	2	179718255	179718255	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179718255G>T	uc002unf.1	-	10	1489	c.1432C>A	c.(1432-1434)CAG>AAG	p.Q478K		NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	478							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---	capture		Missense_Mutation	SNP	179718255	179718255	2895	2	G	T	T	47	47	CCDC141	T	2	2
ZNF804A	91752	broad.mit.edu	37	2	185798417	185798417	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:185798417C>G	uc002uph.2	+	3	937	c.343C>G	c.(343-345)CAA>GAA	p.Q115E		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	115						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11																		---	---	---	---	capture		Missense_Mutation	SNP	185798417	185798417	18768	2	C	G	G	21	21	ZNF804A	G	3	3
ZNF804A	91752	broad.mit.edu	37	2	185800721	185800721	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:185800721G>T	uc002uph.2	+	4	1192	c.598G>T	c.(598-600)GTT>TTT	p.V200F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	200						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11																		---	---	---	---	capture		Missense_Mutation	SNP	185800721	185800721	18768	2	G	T	T	36	36	ZNF804A	T	2	2
PMS1	5378	broad.mit.edu	37	2	190719768	190719768	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190719768C>A	uc002urh.3	+	9	2299	c.1770C>A	c.(1768-1770)CTC>CTA	p.L590L	PMS1_uc010zga.1_Silent_p.L551L|PMS1_uc010zgb.1_Silent_p.L529L|PMS1_uc002urk.3_Silent_p.L551L|PMS1_uc002uri.3_Silent_p.L590L|PMS1_uc010zgc.1_Silent_p.L414L|PMS1_uc010zgd.1_Silent_p.L414L|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Silent_p.L551L|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Silent_p.L375L|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_Silent_p.L258L	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	590	HMG box.				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)					Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					---	---	---	---	capture		Silent	SNP	190719768	190719768	12568	2	C	A	A	29	29	PMS1	A	2	2
MFSD6	54842	broad.mit.edu	37	2	191301381	191301381	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191301381C>A	uc002urz.2	+	3	950	c.626C>A	c.(625-627)TCA>TAA	p.S209*		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing	209					transmembrane transport	integral to membrane				ovary(2)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	191301381	191301381	9925	2	C	A	A	29	29	MFSD6	A	5	2
PLCL1	5334	broad.mit.edu	37	2	198950685	198950685	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198950685C>T	uc010fsp.2	+	2	2735	c.2444C>T	c.(2443-2445)CCA>CTA	p.P815L	PLCL1_uc002uuv.3_Missense_Mutation_p.P736L	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	815					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)													---	---	---	---	capture		Missense_Mutation	SNP	198950685	198950685	12465	2	C	T	T	21	21	PLCL1	T	2	2
FN1	2335	broad.mit.edu	37	2	216271858	216271858	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216271858G>T	uc002vfa.2	-	18	2971	c.2705C>A	c.(2704-2706)CCA>CAA	p.P902Q	FN1_uc002vfb.2_Missense_Mutation_p.P902Q|FN1_uc002vfc.2_Missense_Mutation_p.P902Q|FN1_uc002vfd.2_Missense_Mutation_p.P902Q|FN1_uc002vfe.2_Missense_Mutation_p.P902Q|FN1_uc002vff.2_Missense_Mutation_p.P902Q|FN1_uc002vfg.2_Missense_Mutation_p.P902Q|FN1_uc002vfh.2_Missense_Mutation_p.P902Q|FN1_uc002vfi.2_Missense_Mutation_p.P902Q|FN1_uc002vfj.2_Missense_Mutation_p.P902Q	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	902					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---	capture		Missense_Mutation	SNP	216271858	216271858	6204	2	G	T	T	47	47	FN1	T	2	2
FAM134A	79137	broad.mit.edu	37	2	220045906	220045906	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220045906C>T	uc002vjw.3	+	6	899	c.763C>T	c.(763-765)CAT>TAT	p.H255Y	FAM134A_uc010fwc.2_Missense_Mutation_p.H48Y|FAM134A_uc002vjx.2_Missense_Mutation_p.H48Y	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	hypothetical protein LOC79137	255						endoplasmic reticulum|integral to membrane				ovary(1)|central_nervous_system(1)	2		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---	capture		Missense_Mutation	SNP	220045906	220045906	5642	2	C	T	T	25	25	FAM134A	T	2	2
IRS1	3667	broad.mit.edu	37	2	227662338	227662338	+	Missense_Mutation	SNP	G	A	A	rs147944503		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227662338G>A	uc002voh.3	-	1	1169	c.1117C>T	c.(1117-1119)CGC>TGC	p.R373C		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	373	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)												OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	227662338	227662338	8144	2	G	A	A	39	39	IRS1	A	1	1
HTR2B	3357	broad.mit.edu	37	2	231988259	231988259	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231988259G>T	uc002vro.2	-	2	725	c.220C>A	c.(220-222)CTT>ATT	p.L74I	PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.L74I	NM_000867	NP_000858	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B	74	Helical; Name=1; (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)													---	---	---	---	capture		Missense_Mutation	SNP	231988259	231988259	7742	2	G	T	T	35	35	HTR2B	T	2	2
TRPM8	79054	broad.mit.edu	37	2	234863887	234863887	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234863887G>T	uc002vvh.2	+	11	1395	c.1355G>T	c.(1354-1356)CGA>CTA	p.R452L	TRPM8_uc010fyj.2_Missense_Mutation_p.R140L	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	452	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)													---	---	---	---	capture		Missense_Mutation	SNP	234863887	234863887	17143	2	G	T	T	37	37	TRPM8	T	1	1
COL6A3	1293	broad.mit.edu	37	2	238250716	238250716	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238250716A>G	uc002vwl.2	-	37	8042	c.7757T>C	c.(7756-7758)GTT>GCT	p.V2586A	COL6A3_uc002vwo.2_Missense_Mutation_p.V2380A|COL6A3_uc010znj.1_Missense_Mutation_p.V1979A|COL6A3_uc002vwj.2_5'UTR	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2586	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---	capture		Missense_Mutation	SNP	238250716	238250716	3839	2	A	G	G	2	2	COL6A3	G	4	4
CENPB	1059	broad.mit.edu	37	20	3766901	3766901	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3766901A>T	uc002wjk.2	-	1	437	c.230T>A	c.(229-231)CTC>CAC	p.L77H	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	77	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	3766901	3766901	3360	20	A	T	T	11	11	CENPB	T	4	4
MCM8	84515	broad.mit.edu	37	20	5965433	5965433	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5965433G>T	uc002wmi.2	+	15	2117	c.1740G>T	c.(1738-1740)GGG>GGT	p.G580G	MCM8_uc002wmj.2_Silent_p.G564G|MCM8_uc002wmk.2_Silent_p.G620G|MCM8_uc002wml.2_Silent_p.G580G|MCM8_uc010gbp.2_Silent_p.G533G|MCM8_uc002wmm.2_Silent_p.G118G	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	580	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	5965433	5965433	9782	20	G	T	T	41	41	MCM8	T	2	2
TASP1	55617	broad.mit.edu	37	20	13539738	13539738	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13539738T>C	uc002woi.2	-	8	709	c.592A>G	c.(592-594)AGA>GGA	p.R198G	TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.R175G|TASP1_uc010zrj.1_RNA	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	198					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	13539738	13539738	16111	20	T	C	C	56	56	TASP1	C	4	4
SNX5	27131	broad.mit.edu	37	20	17929612	17929612	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17929612C>A	uc002wqc.2	-	10	926	c.840G>T	c.(838-840)GAG>GAT	p.E280D	SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Missense_Mutation_p.E280D|SNX5_uc002wqe.2_Missense_Mutation_p.E175D|SNX5_uc010zrt.1_Missense_Mutation_p.E280D	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	280	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17929612	17929612	15405	20	C	A	A	24	24	SNX5	A	2	2
RALGAPA2	57186	broad.mit.edu	37	20	20505508	20505508	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20505508C>T	uc002wrz.2	-	29	3871	c.3728G>A	c.(3727-3729)AGT>AAT	p.S1243N	RALGAPA2_uc010gcx.2_Missense_Mutation_p.S947N|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S691N|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S15N	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1243					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	20505508	20505508	13474	20	C	T	T	20	20	RALGAPA2	T	2	2
REM1	28954	broad.mit.edu	37	20	30070289	30070289	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30070289A>T	uc002wwa.2	+	4	907	c.623A>T	c.(622-624)GAA>GTA	p.E208V		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	208					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---	capture		Missense_Mutation	SNP	30070289	30070289	13691	20	A	T	T	9	9	REM1	T	4	4
ARFGEF2	10564	broad.mit.edu	37	20	47570144	47570144	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47570144C>A	uc002xtx.3	+	6	807	c.655C>A	c.(655-657)CCT>ACT	p.P219T		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	219					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	47570144	47570144	864	20	C	A	A	22	22	ARFGEF2	A	2	2
DDX27	55661	broad.mit.edu	37	20	47849862	47849862	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47849862G>T	uc002xuh.2	+	10	1205	c.1144G>T	c.(1144-1146)GAG>TAG	p.E382*		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	382	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---	capture		Nonsense_Mutation	SNP	47849862	47849862	4525	20	G	T	T	45	45	DDX27	T	5	2
PTGIS	5740	broad.mit.edu	37	20	48164492	48164492	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:48164492C>A	uc002xut.2	-	3	317	c.263G>T	c.(262-264)TGG>TTG	p.W88L	PTGIS_uc010zyi.1_Intron	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	prostaglandin I2 synthase	88					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)													---	---	---	---	capture		Missense_Mutation	SNP	48164492	48164492	13207	20	C	A	A	21	21	PTGIS	A	2	2
ZNF831	128611	broad.mit.edu	37	20	57829217	57829217	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57829217G>T	uc002yan.2	+	5	4453	c.4453G>T	c.(4453-4455)GAC>TAC	p.D1485Y		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1485						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---	capture		Missense_Mutation	SNP	57829217	57829217	18784	20	G	T	T	45	45	ZNF831	T	2	2
ZBTB46	140685	broad.mit.edu	37	20	62407098	62407098	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62407098G>A	uc002ygv.1	-	3	1356	c.1155C>T	c.(1153-1155)GCC>GCT	p.A385A	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)															OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	62407098	62407098	18134	20	G	A	A	39	39	ZBTB46	A	1	1
TPTE	7179	broad.mit.edu	37	21	10921987	10921987	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:10921987C>G	uc002yip.1	-	18	1404	c.1036G>C	c.(1036-1038)GGA>CGA	p.G346R	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.G328R|TPTE_uc002yir.1_Missense_Mutation_p.G308R|TPTE_uc010gkv.1_Missense_Mutation_p.G208R	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	346	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			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)														---	---	---	---	capture		Missense_Mutation	SNP	10921987	10921987	16974	21	C	G	G	24	24	TPTE	G	3	3
TRPM2	7226	broad.mit.edu	37	21	45815303	45815303	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45815303G>C	uc002zet.1	+	13	2014	c.1801G>C	c.(1801-1803)GGA>CGA	p.G601R	TRPM2_uc002zeu.1_Missense_Mutation_p.G601R|TRPM2_uc002zew.1_Missense_Mutation_p.G601R|TRPM2_uc010gpt.1_Missense_Mutation_p.G601R|TRPM2_uc002zex.1_Missense_Mutation_p.G387R|TRPM2_uc002zey.1_Missense_Mutation_p.G114R	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	601	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	45815303	45815303	17137	21	G	C	C	43	43	TRPM2	C	3	3
CECR2	27443	broad.mit.edu	37	22	18020401	18020401	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18020401G>A	uc010gqw.1	+	13	1856	c.1730G>A	c.(1729-1731)CGG>CAG	p.R577Q	CECR2_uc010gqv.1_Missense_Mutation_p.R436Q|CECR2_uc002zml.2_Missense_Mutation_p.R436Q	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	619					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)														---	---	---	---	capture		Missense_Mutation	SNP	18020401	18020401	3339	22	G	A	A	39	39	CECR2	A	1	1
CECR2	27443	broad.mit.edu	37	22	18022205	18022205	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18022205G>A	uc010gqw.1	+	15	2433	c.2307G>A	c.(2305-2307)AAG>AAA	p.K769K	CECR2_uc010gqv.1_Silent_p.K628K|CECR2_uc002zml.2_Silent_p.K628K	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	811					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)														---	---	---	---	capture		Silent	SNP	18022205	18022205	3339	22	G	A	A	34	34	CECR2	A	2	2
LIMK2	3985	broad.mit.edu	37	22	31668583	31668583	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31668583C>A	uc003akh.2	+	13	1596	c.1451C>A	c.(1450-1452)CCC>CAC	p.P484H	LIMK2_uc003akg.2_Missense_Mutation_p.P401H|LIMK2_uc003aki.2_Missense_Mutation_p.P238H|LIMK2_uc003akj.2_Missense_Mutation_p.P463H|LIMK2_uc003akk.2_Missense_Mutation_p.P463H|LIMK2_uc011aln.1_Missense_Mutation_p.P401H	NM_005569	NP_005560	P53671	LIMK2_HUMAN	LIM domain kinase 2 isoform 2a	484	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	31668583	31668583	9128	22	C	A	A	22	22	LIMK2	A	2	2
CSF2RB	1439	broad.mit.edu	37	22	37334270	37334270	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37334270C>T	uc003aqa.3	+	14	2637	c.2420C>T	c.(2419-2421)TCC>TTC	p.S807F	CSF2RB_uc003aqc.3_Missense_Mutation_p.S813F	NM_000395	NP_000386	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta	807	Cytoplasmic (Potential).				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			skin(2)|pancreas(1)	3					Sargramostim(DB00020)													---	---	---	---	capture		Missense_Mutation	SNP	37334270	37334270	4076	22	C	T	T	30	30	CSF2RB	T	2	2
TNRC6B	23112	broad.mit.edu	37	22	40676050	40676050	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40676050G>T	uc011aor.1	+	10	3525	c.3314G>T	c.(3313-3315)GGG>GTG	p.G1105V	TNRC6B_uc003aym.2_Missense_Mutation_p.G358V|TNRC6B_uc003ayn.3_Missense_Mutation_p.G1052V|TNRC6B_uc003ayo.2_Missense_Mutation_p.G909V	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1105					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	40676050	40676050	16882	22	G	T	T	43	43	TNRC6B	T	2	2
TCF20	6942	broad.mit.edu	37	22	42605960	42605960	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42605960G>T	uc003bcj.1	-	1	5486	c.5352C>A	c.(5350-5352)CCC>CCA	p.P1784P	TCF20_uc003bck.1_Silent_p.P1784P|TCF20_uc003bnt.2_Silent_p.P1784P	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5																		---	---	---	---	capture		Silent	SNP	42605960	42605960	16216	22	G	T	T	47	47	TCF20	T	2	2
TCF20	6942	broad.mit.edu	37	22	42606726	42606726	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42606726G>T	uc003bcj.1	-	1	4720	c.4586C>A	c.(4585-4587)CCT>CAT	p.P1529H	TCF20_uc003bck.1_Missense_Mutation_p.P1529H|TCF20_uc003bnt.2_Missense_Mutation_p.P1529H	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	42606726	42606726	16216	22	G	T	T	35	35	TCF20	T	2	2
TCF20	6942	broad.mit.edu	37	22	42609195	42609195	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42609195C>T	uc003bcj.1	-	1	2251	c.2117G>A	c.(2116-2118)CGC>CAC	p.R706H	TCF20_uc003bck.1_Missense_Mutation_p.R706H|TCF20_uc003bnt.2_Missense_Mutation_p.R706H	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	706					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	42609195	42609195	16216	22	C	T	T	27	27	TCF20	T	1	1
PARVB	29780	broad.mit.edu	37	22	44514978	44514978	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44514978G>T	uc003ben.2	+	4	386	c.334G>T	c.(334-336)GAG>TAG	p.E112*	PARVB_uc003bem.2_Nonsense_Mutation_p.E145*|PARVB_uc010gzn.2_Nonsense_Mutation_p.E60*|PARVB_uc003beo.2_Nonsense_Mutation_p.E75*	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b	112	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)																---	---	---	---	capture		Nonsense_Mutation	SNP	44514978	44514978	11886	22	G	T	T	41	41	PARVB	T	5	2
CNTN4	152330	broad.mit.edu	37	3	3030128	3030128	+	Silent	SNP	T	C	C	rs78171908	by1000genomes	TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3030128T>C	uc003bpc.2	+	13	1679	c.1458T>C	c.(1456-1458)GCT>GCC	p.A486A	CNTN4_uc003bpb.1_Silent_p.A158A|CNTN4_uc003bpd.1_Silent_p.A486A|CNTN4_uc003bpe.2_Silent_p.A158A|CNTN4_uc003bpf.2_Silent_p.A158A	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	486	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)														---	---	---	---	capture		Silent	SNP	3030128	3030128	3781	3	T	C	C	53	53	CNTN4	C	4	4
LRRN1	57633	broad.mit.edu	37	3	3886844	3886844	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3886844C>G	uc003bpt.3	+	2	1280	c.519C>G	c.(517-519)CAC>CAG	p.H173Q	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	173	LRR 5.|Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)														---	---	---	---	capture		Missense_Mutation	SNP	3886844	3886844	9410	3	C	G	G	18	18	LRRN1	G	3	3
MLH1	4292	broad.mit.edu	37	3	37070422	37070422	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37070422G>T	uc003cgl.2	+	13	1617	c.1557G>T	c.(1555-1557)GAG>GAT	p.E519D	MLH1_uc011aye.1_Missense_Mutation_p.E278D|MLH1_uc011ayb.1_Missense_Mutation_p.E278D|MLH1_uc010hge.2_Missense_Mutation_p.E519D|MLH1_uc003cgn.3_Missense_Mutation_p.E278D|MLH1_uc011ayc.1_Missense_Mutation_p.E421D|MLH1_uc011ayd.1_Missense_Mutation_p.E278D|MLH1_uc003cgo.2_Missense_Mutation_p.E278D|MLH1_uc010hgi.1_Missense_Mutation_p.E161D|MLH1_uc010hgj.1_Missense_Mutation_p.E161D|MLH1_uc010hgk.2_Missense_Mutation_p.E161D|MLH1_uc010hgl.1_Missense_Mutation_p.E94D|MLH1_uc010hgn.2_Missense_Mutation_p.E161D|MLH1_uc010hgm.2_RNA|MLH1_uc010hgo.2_Missense_Mutation_p.E161D	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	519	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77							1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---	capture		Missense_Mutation	SNP	37070422	37070422	10007	3	G	T	T	35	35	MLH1	T	2	2
ZNF621	285268	broad.mit.edu	37	3	40574078	40574078	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:40574078G>T	uc003ckm.2	+	5	1033	c.817G>T	c.(817-819)GGT>TGT	p.G273C	ZNF621_uc003ckn.2_Missense_Mutation_p.G273C|ZNF621_uc003cko.2_Missense_Mutation_p.G238C|ZNF621_uc011aze.1_Missense_Mutation_p.G265C	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	273	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)														---	---	---	---	capture		Missense_Mutation	SNP	40574078	40574078	18640	3	G	T	T	39	39	ZNF621	T	1	1
CCR5	1234	broad.mit.edu	37	3	46415167	46415167	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46415167C>A	uc003cpo.3	+	3	896	c.774C>A	c.(772-774)AAC>AAA	p.N258K	CCR5_uc010hjd.2_Missense_Mutation_p.N258K	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	258	Helical; Name=6; (Potential).				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)													---	---	---	---	capture		Missense_Mutation	SNP	46415167	46415167	3071	3	C	A	A	17	17	CCR5	A	2	2
LAMB2	3913	broad.mit.edu	37	3	49166717	49166717	+	Missense_Mutation	SNP	C	A	A	rs148333147		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49166717C>A	uc003cwe.2	-	12	1858	c.1559G>T	c.(1558-1560)CGC>CTC	p.R520L	LAMB2_uc003cwf.1_Missense_Mutation_p.R520L	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	520	Laminin EGF-like 4.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---	capture		Missense_Mutation	SNP	49166717	49166717	8934	3	C	A	A	27	27	LAMB2	A	1	1
DOCK3	1795	broad.mit.edu	37	3	51265418	51265418	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51265418G>T	uc011bds.1	+	17	1569	c.1546G>T	c.(1546-1548)GAC>TAC	p.D516Y		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	516	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)														---	---	---	---	capture		Missense_Mutation	SNP	51265418	51265418	4872	3	G	T	T	41	41	DOCK3	T	2	2
SPCS1	28972	broad.mit.edu	37	3	52740666	52740666	+	Nonsense_Mutation	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52740666A>T	uc011bei.1	+	2	449	c.244A>T	c.(244-246)AAG>TAG	p.K82*	GLT8D1_uc003dfj.2_5'Flank|GLT8D1_uc003dfk.2_5'Flank|GLT8D1_uc003dfl.2_5'Flank|GLT8D1_uc003dfm.2_5'Flank|GLT8D1_uc003dfn.2_5'Flank|GLT8D1_uc003dfo.1_5'Flank|GLT8D1_uc010hmm.1_5'Flank	NM_014041	NP_054760	Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog	82	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity				0				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)														---	---	---	---	capture		Nonsense_Mutation	SNP	52740666	52740666	15533	3	A	T	T	5	5	SPCS1	T	5	4
ADAMTS9	56999	broad.mit.edu	37	3	64636807	64636807	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64636807C>A	uc003dmg.2	-	9	1381	c.1349G>T	c.(1348-1350)TGT>TTT	p.C450F	ADAMTS9_uc011bfo.1_Missense_Mutation_p.C422F|ADAMTS9_uc003dmh.1_Missense_Mutation_p.C279F|ADAMTS9_uc003dmk.1_Missense_Mutation_p.C450F	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	450	Peptidase M12B.				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)														---	---	---	---	capture		Missense_Mutation	SNP	64636807	64636807	274	3	C	A	A	17	17	ADAMTS9	A	2	2
CRYBG3	131544	broad.mit.edu	37	3	97596805	97596805	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97596805G>T	uc003drx.2	+	1	987	c.923G>T	c.(922-924)GGT>GTT	p.G308V		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0																		---	---	---	---	capture		Missense_Mutation	SNP	97596805	97596805	4052	3	G	T	T	44	44	CRYBG3	T	2	2
OR5K1	26339	broad.mit.edu	37	3	98189081	98189081	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98189081A>G	uc003dsm.2	+	1	661	c.661A>G	c.(661-663)ATT>GTT	p.I221V		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	98189081	98189081	11576	3	A	G	G	16	16	OR5K1	G	4	4
FILIP1L	11259	broad.mit.edu	37	3	99648737	99648737	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99648737G>T	uc003dtm.2	-	3	852	c.389C>A	c.(388-390)CCT>CAT	p.P130H	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.P130H	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	130						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	99648737	99648737	6133	3	G	T	T	35	35	FILIP1L	T	2	2
ABI3BP	25890	broad.mit.edu	37	3	100523636	100523636	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100523636C>A	uc003dun.2	-	20	1832	c.1747G>T	c.(1747-1749)GCT>TCT	p.A583S	ABI3BP_uc003duj.2_Missense_Mutation_p.A138S|ABI3BP_uc003duk.2_Missense_Mutation_p.A267S|ABI3BP_uc003dul.2_Missense_Mutation_p.A388S|ABI3BP_uc011bhd.1_Missense_Mutation_p.A537S|ABI3BP_uc003dum.2_5'UTR	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	583	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	100523636	100523636	92	3	C	A	A	21	21	ABI3BP	A	2	2
KIAA1407	57577	broad.mit.edu	37	3	113737655	113737655	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113737655C>A	uc003eax.2	-	8	1180	c.1033G>T	c.(1033-1035)GGG>TGG	p.G345W	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.G323W|KIAA1407_uc011bip.1_Missense_Mutation_p.G332W	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	345										ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	113737655	113737655	8538	3	C	A	A	22	22	KIAA1407	A	2	2
FBXO40	51725	broad.mit.edu	37	3	121345583	121345583	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121345583G>T	uc003eeg.2	+	4	2166	c.1956G>T	c.(1954-1956)TGG>TGT	p.W652C		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	652					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)														---	---	---	---	capture		Missense_Mutation	SNP	121345583	121345583	5986	3	G	T	T	43	43	FBXO40	T	2	2
KALRN	8997	broad.mit.edu	37	3	124281726	124281726	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124281726G>T	uc003ehg.2	+	34	5093	c.4966G>T	c.(4966-4968)GAC>TAC	p.D1656Y	KALRN_uc003ehi.2_Missense_Mutation_p.D29Y	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1656	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	124281726	124281726	8279	3	G	T	T	41	41	KALRN	T	2	2
HEG1	57493	broad.mit.edu	37	3	124738123	124738123	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124738123G>T	uc003ehs.3	-	5	1639	c.1571C>A	c.(1570-1572)CCA>CAA	p.P524Q	HEG1_uc011bke.1_Missense_Mutation_p.P524Q	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	524	Extracellular (Potential).|Ser-rich.					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	124738123	124738123	7327	3	G	T	T	47	47	HEG1	T	2	2
BFSP2	8419	broad.mit.edu	37	3	133119010	133119010	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133119010G>T	uc003epn.1	+	1	221	c.83G>T	c.(82-84)AGG>ATG	p.R28M		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	phakinin	28	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens				0																		---	---	---	---	capture		Missense_Mutation	SNP	133119010	133119010	1440	3	G	T	T	35	35	BFSP2	T	2	2
DBR1	51163	broad.mit.edu	37	3	137880959	137880959	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137880959C>A	uc003erv.2	-	8	1543	c.1407G>T	c.(1405-1407)AGG>AGT	p.R469S	DBR1_uc003eru.2_Missense_Mutation_p.R418S|DBR1_uc003ert.2_Missense_Mutation_p.R237S	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	469						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	137880959	137880959	4428	3	C	A	A	30	30	DBR1	A	2	2
CLSTN2	64084	broad.mit.edu	37	3	140122641	140122641	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:140122641G>T	uc003etn.2	+	3	593	c.403G>T	c.(403-405)GAG>TAG	p.E135*	CLSTN2_uc003etm.2_Nonsense_Mutation_p.E135*	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	135	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7															HNSCC(16;0.037)			---	---	---	---	capture		Nonsense_Mutation	SNP	140122641	140122641	3700	3	G	T	T	37	37	CLSTN2	T	5	1
CPA3	1359	broad.mit.edu	37	3	148586807	148586807	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148586807C>A	uc003ewm.2	+	3	302	c.250C>A	c.(250-252)CAA>AAA	p.Q84K		NM_001870	NP_001861	P15088	CBPA3_HUMAN	carboxypeptidase A3 precursor	84					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			breast(1)|skin(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)															---	---	---	---	capture		Missense_Mutation	SNP	148586807	148586807	3929	3	C	A	A	29	29	CPA3	A	2	2
HLTF	6596	broad.mit.edu	37	3	148759307	148759307	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148759307G>T	uc003ewq.1	-	20	2564	c.2346C>A	c.(2344-2346)CCC>CCA	p.P782P	HLTF_uc003ewr.1_Silent_p.P782P|HLTF_uc003ews.1_Silent_p.P781P|HLTF_uc010hve.1_Silent_p.P781P	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	782	RING-type.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)															---	---	---	---	capture		Silent	SNP	148759307	148759307	7506	3	G	T	T	35	35	HLTF	T	2	2
CP	1356	broad.mit.edu	37	3	148924002	148924002	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148924002G>T	uc003ewy.3	-	6	1414	c.1161C>A	c.(1159-1161)CCC>CCA	p.P387P	CP_uc011bnr.1_RNA|CP_uc003ewx.3_Silent_p.P168P|CP_uc003ewz.2_Silent_p.P387P|CP_uc010hvf.1_Silent_p.P113P	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	387	Plastocyanin-like 3.|F5/8 type A 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)													---	---	---	---	capture		Silent	SNP	148924002	148924002	3925	3	G	T	T	35	35	CP	T	2	2
PFN2	5217	broad.mit.edu	37	3	149684357	149684357	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:149684357C>A	uc003ext.1	-	3	440	c.342G>T	c.(340-342)ATG>ATT	p.M114I	PFN2_uc003exs.1_Intron|PFN2_uc003exu.1_Intron|PFN2_uc011bnu.1_Intron	NM_053024	NP_444252	P35080	PROF2_HUMAN	profilin 2 isoform a	114					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding				0			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)															---	---	---	---	capture		Missense_Mutation	SNP	149684357	149684357	12190	3	C	A	A	21	21	PFN2	A	2	2
IGSF10	285313	broad.mit.edu	37	3	151161171	151161171	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151161171G>T	uc011bod.1	-	5	5564	c.5564C>A	c.(5563-5565)ACT>AAT	p.T1855N	IGSF10_uc011bob.1_5'Flank|IGSF10_uc011boc.1_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1855	Ig-like C2-type 5.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Missense_Mutation	SNP	151161171	151161171	7898	3	G	T	T	36	36	IGSF10	T	2	2
TIPARP	25976	broad.mit.edu	37	3	156395630	156395630	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:156395630G>T	uc003fav.2	+	2	392	c.144G>T	c.(142-144)TTG>TTT	p.L48F	LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Missense_Mutation_p.L48F	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	48							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)															---	---	---	---	capture		Missense_Mutation	SNP	156395630	156395630	16453	3	G	T	T	47	47	TIPARP	T	2	2
VEPH1	79674	broad.mit.edu	37	3	157099055	157099055	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157099055G>T	uc003fbj.1	-	7	1334	c.1017C>A	c.(1015-1017)TCC>TCA	p.S339S	VEPH1_uc003fbk.1_Silent_p.S339S|VEPH1_uc010hvu.1_Silent_p.S339S	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	339						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)															---	---	---	---	capture		Silent	SNP	157099055	157099055	17721	3	G	T	T	35	35	VEPH1	T	2	2
RSRC1	51319	broad.mit.edu	37	3	157841731	157841731	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157841731G>C	uc003fbt.2	+	3	382	c.271G>C	c.(271-273)GGG>CGG	p.G91R	RSRC1_uc011bou.1_Missense_Mutation_p.G91R|RSRC1_uc003fbu.1_Missense_Mutation_p.G91R|RSRC1_uc003fbv.2_Missense_Mutation_p.G91R	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	91	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding				0			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)															---	---	---	---	capture		Missense_Mutation	SNP	157841731	157841731	14194	3	G	C	C	35	35	RSRC1	C	3	3
IQCJ	654502	broad.mit.edu	37	3	158983023	158983023	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158983023G>T	uc003fcp.1	+	5	416	c.311G>T	c.(310-312)GGG>GTG	p.G104V	SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Missense_Mutation_p.G77V	NM_001042705	NP_001036170	Q1A5X6	IQCJ_HUMAN	IQ motif containing J isoform CaMBPv1	104											0			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)															---	---	---	---	capture		Missense_Mutation	SNP	158983023	158983023	8115	3	G	T	T	43	43	IQCJ	T	2	2
SI	6476	broad.mit.edu	37	3	164709970	164709970	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164709970G>T	uc003fei.2	-	43	5040	c.4978C>A	c.(4978-4980)CAT>AAT	p.H1660N		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1660	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	164709970	164709970	14792	3	G	T	T	47	47	SI	T	2	2
MYNN	55892	broad.mit.edu	37	3	169501285	169501285	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169501285G>T	uc003fft.2	+	6	1849	c.1420G>T	c.(1420-1422)GGT>TGT	p.G474C	MYNN_uc011bpm.1_Missense_Mutation_p.G360C|MYNN_uc003ffu.2_Missense_Mutation_p.G474C|MYNN_uc003ffv.2_Missense_Mutation_p.G201C|MYNN_uc010hwo.2_Missense_Mutation_p.G474C|MYNN_uc003ffw.1_RNA	NM_018657	NP_061127	Q9NPC7	MYNN_HUMAN	myoneurin	474	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)															---	---	---	---	capture		Missense_Mutation	SNP	169501285	169501285	10456	3	G	T	T	47	47	MYNN	T	2	2
PLD1	5337	broad.mit.edu	37	3	171406667	171406667	+	Splice_Site	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:171406667C>G	uc003fhs.2	-	14	1455	c.1339_splice	c.e14-1	p.V447_splice	PLD1_uc003fht.2_Splice_Site_p.V447_splice	NM_002662	NP_002653			phospholipase D1 isoform a						cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)													---	---	---	---	capture		Splice_Site	SNP	171406667	171406667	12471	3	C	G	G	24	24	PLD1	G	5	3
PLD1	5337	broad.mit.edu	37	3	171417587	171417587	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:171417587G>T	uc003fhs.2	-	12	1291	c.1175C>A	c.(1174-1176)CCA>CAA	p.P392Q	PLD1_uc003fht.2_Missense_Mutation_p.P392Q	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	392					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)													---	---	---	---	capture		Missense_Mutation	SNP	171417587	171417587	12471	3	G	T	T	47	47	PLD1	T	2	2
PLD1	5337	broad.mit.edu	37	3	171427430	171427430	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:171427430G>A	uc003fhs.2	-	10	1097	c.981C>T	c.(979-981)ATC>ATT	p.I327I	PLD1_uc003fht.2_Silent_p.I327I	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	327	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)													---	---	---	---	capture		Silent	SNP	171427430	171427430	12471	3	G	A	A	41	41	PLD1	A	2	2
FNDC3B	64778	broad.mit.edu	37	3	172059010	172059010	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172059010G>T	uc003fhy.2	+	17	2132	c.1960G>T	c.(1960-1962)GGA>TGA	p.G654*	FNDC3B_uc003fhz.3_Nonsense_Mutation_p.G654*	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	654	Fibronectin type-III 4.					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)														---	---	---	---	capture		Nonsense_Mutation	SNP	172059010	172059010	6212	3	G	T	T	39	39	FNDC3B	T	5	1
TTC14	151613	broad.mit.edu	37	3	180327705	180327705	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180327705G>T	uc003fkk.2	+	12	1820	c.1688G>T	c.(1687-1689)AGG>ATG	p.R563M	TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.R563M	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	563							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---	capture		Missense_Mutation	SNP	180327705	180327705	17235	3	G	T	T	35	35	TTC14	T	2	2
ATP11B	23200	broad.mit.edu	37	3	182553841	182553841	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182553841C>T	uc003flb.2	+	5	591	c.334C>T	c.(334-336)CGG>TGG	p.R112W	ATP11B_uc003fla.2_Missense_Mutation_p.R112W	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	112	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)															---	---	---	---	capture		Missense_Mutation	SNP	182553841	182553841	1139	3	C	T	T	19	19	ATP11B	T	1	1
EIF4G1	1981	broad.mit.edu	37	3	184035278	184035278	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184035278C>A	uc003fnp.2	+	5	515	c.317C>A	c.(316-318)CCT>CAT	p.P106H	EIF4G1_uc003fno.1_Intron|EIF4G1_uc010hxw.1_Intron|EIF4G1_uc003fnt.2_Intron|EIF4G1_uc003fnq.2_Missense_Mutation_p.P19H|EIF4G1_uc003fnr.2_Intron|EIF4G1_uc010hxx.2_Missense_Mutation_p.P113H|EIF4G1_uc003fns.2_Missense_Mutation_p.P66H|EIF4G1_uc010hxy.2_Missense_Mutation_p.P113H|EIF4G1_uc010hxz.1_Missense_Mutation_p.P19H|EIF4G1_uc003fnv.3_Missense_Mutation_p.P106H|EIF4G1_uc003fnu.3_Missense_Mutation_p.P106H|EIF4G1_uc003fnw.2_Missense_Mutation_p.P113H|EIF4G1_uc003fnx.2_5'Flank|EIF4G1_uc003fny.3_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	106					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---	capture		Missense_Mutation	SNP	184035278	184035278	5227	3	C	A	A	24	24	EIF4G1	A	2	2
FAM131A	131408	broad.mit.edu	37	3	184059715	184059715	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184059715C>A	uc003fog.2	+	1	1458	c.94C>A	c.(94-96)CTT>ATT	p.L32I	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Intron|FAM131A_uc003foe.2_Intron	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	32						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---	capture		Missense_Mutation	SNP	184059715	184059715	5636	3	C	A	A	24	24	FAM131A	A	2	2
IGF2BP2	10644	broad.mit.edu	37	3	185404910	185404910	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185404910C>A	uc003fpo.2	-	7	826	c.747G>T	c.(745-747)GAG>GAT	p.E249D	IGF2BP2_uc010hyi.2_Missense_Mutation_p.E192D|IGF2BP2_uc010hyj.2_Missense_Mutation_p.E186D|IGF2BP2_uc010hyk.2_Missense_Mutation_p.E113D|IGF2BP2_uc010hyl.2_Missense_Mutation_p.E186D|IGF2BP2_uc003fpp.2_Missense_Mutation_p.E249D|IGF2BP2_uc003fpq.2_Missense_Mutation_p.E254D	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	249	KH 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)															---	---	---	---	capture		Missense_Mutation	SNP	185404910	185404910	7875	3	C	A	A	24	24	IGF2BP2	A	2	2
MASP1	5648	broad.mit.edu	37	3	186974575	186974575	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186974575G>T	uc003frh.1	-	5	953	c.621C>A	c.(619-621)CCC>CCA	p.P207P	MASP1_uc003fri.2_Silent_p.P207P|MASP1_uc003frj.2_Silent_p.P176P|MASP1_uc003frk.1_Silent_p.P207P|MASP1_uc011bse.1_Silent_p.P181P	NM_001879	NP_001870	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	207	Interaction with FCN2.|CUB 2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)														---	---	---	---	capture		Silent	SNP	186974575	186974575	9706	3	G	T	T	47	47	MASP1	T	2	2
LEPREL1	55214	broad.mit.edu	37	3	189700860	189700860	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:189700860G>T	uc011bsk.1	-	8	1687	c.1299C>A	c.(1297-1299)CCC>CCA	p.P433P	LEPREL1_uc003fsg.2_Silent_p.P252P	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a	433					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---	capture		Silent	SNP	189700860	189700860	9054	3	G	T	T	47	47	LEPREL1	T	2	2
TMEM44	93109	broad.mit.edu	37	3	194309308	194309308	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194309308G>T	uc010hzn.2	-	11	1547	c.1378C>A	c.(1378-1380)CAG>AAG	p.Q460K	TMEM44_uc010hzm.2_3'UTR|TMEM44_uc003fuc.2_Missense_Mutation_p.Q145K|TMEM44_uc003fue.2_Missense_Mutation_p.Q413K|TMEM44_uc003fud.2_Missense_Mutation_p.Q424K|TMEM44_uc003fuf.2_3'UTR|TMEM44_uc011bsv.1_Missense_Mutation_p.Q423K|uc003fug.2_5'Flank	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	transmembrane protein 44 isoform b	460	Cytoplasmic (Potential).					integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)														---	---	---	---	capture		Missense_Mutation	SNP	194309308	194309308	16707	3	G	T	T	47	47	TMEM44	T	2	2
PCYT1A	5130	broad.mit.edu	37	3	195975082	195975082	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195975082C>A	uc003fwg.2	-	5	503	c.330G>T	c.(328-330)GTG>GTT	p.V110V	PCYT1A_uc003fwh.2_Silent_p.V110V	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	110	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)													---	---	---	---	capture		Silent	SNP	195975082	195975082	12031	3	C	A	A	21	21	PCYT1A	A	2	2
WDR53	348793	broad.mit.edu	37	3	196281423	196281423	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196281423G>T	uc003fwt.2	-	4	1207	c.736C>A	c.(736-738)CAG>AAG	p.Q246K		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	246	WD 5.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)														---	---	---	---	capture		Missense_Mutation	SNP	196281423	196281423	17878	3	G	T	T	47	47	WDR53	T	2	2
MSX1	4487	broad.mit.edu	37	4	4864840	4864840	+	Silent	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:4864840T>C	uc003gif.2	+	2	1117	c.882T>C	c.(880-882)CAT>CAC	p.H294H		NM_002448	NP_002439	P28360	MSX1_HUMAN	msh homeobox 1	288					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)														---	---	---	---	capture		Silent	SNP	4864840	4864840	10288	4	T	C	C	51	51	MSX1	C	4	4
CPZ	8532	broad.mit.edu	37	4	8607752	8607752	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8607752G>A	uc003glm.2	+	5	872	c.746G>A	c.(745-747)GGC>GAC	p.G249D	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.G112D|CPZ_uc003glo.2_Missense_Mutation_p.G238D|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	249					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	8607752	8607752	3978	4	G	A	A	42	42	CPZ	A	2	2
ATP8A1	10396	broad.mit.edu	37	4	42487624	42487624	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42487624T>A	uc003gwr.2	-	25	2445	c.2213A>T	c.(2212-2214)AAT>ATT	p.N738I	ATP8A1_uc003gwq.2_Intron|ATP8A1_uc003gws.2_Missense_Mutation_p.N723I	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	738	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---	capture		Missense_Mutation	SNP	42487624	42487624	1211	4	T	A	A	52	52	ATP8A1	A	4	4
UTP3	57050	broad.mit.edu	37	4	71554728	71554728	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71554728G>T	uc003hfo.2	+	1	533	c.334G>T	c.(334-336)GGG>TGG	p.G112W		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit processome component	112	Glu-rich.				brain development|chromatin modification|gene silencing	nucleolus					0			Lung(101;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	71554728	71554728	17666	4	G	T	T	47	47	UTP3	T	2	2
FRAS1	80144	broad.mit.edu	37	4	79403008	79403008	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79403008G>C	uc003hlb.2	+	57	8934	c.8494G>C	c.(8494-8496)GCA>CCA	p.A2832P		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2827	Calx-beta 3.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5																		---	---	---	---	capture		Missense_Mutation	SNP	79403008	79403008	6288	4	G	C	C	38	38	FRAS1	C	3	3
SMARCAD1	56916	broad.mit.edu	37	4	95162117	95162117	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95162117T>A	uc003htc.3	+	6	920	c.665T>A	c.(664-666)TTT>TAT	p.F222Y	SMARCAD1_uc003htb.3_Missense_Mutation_p.F222Y|SMARCAD1_uc003htd.3_Missense_Mutation_p.F222Y|SMARCAD1_uc010ila.2_Missense_Mutation_p.F85Y	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	222					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)														---	---	---	---	capture		Missense_Mutation	SNP	95162117	95162117	15270	4	T	A	A	64	64	SMARCAD1	A	4	4
MANBA	4126	broad.mit.edu	37	4	103644062	103644062	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103644062T>C	uc003hwg.2	-	4	615	c.515A>G	c.(514-516)CAG>CGG	p.Q172R	MANBA_uc011ces.1_Intron	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	172					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)														---	---	---	---	capture		Missense_Mutation	SNP	103644062	103644062	9602	4	T	C	C	55	55	MANBA	C	4	4
NHEDC1	150159	broad.mit.edu	37	4	103822328	103822328	+	Silent	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103822328G>C	uc003hww.2	-	12	1616	c.1494C>G	c.(1492-1494)CGC>CGG	p.R498R	NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Silent_p.R271R	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	498						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)														---	---	---	---	capture		Silent	SNP	103822328	103822328	10800	4	G	C	C	42	42	NHEDC1	C	3	3
ENPEP	2028	broad.mit.edu	37	4	111482595	111482595	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:111482595G>T	uc003iab.3	+	20	3097	c.2755G>T	c.(2755-2757)GGA>TGA	p.G919*		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	919	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)													---	---	---	---	capture		Nonsense_Mutation	SNP	111482595	111482595	5321	4	G	T	T	47	47	ENPEP	T	5	2
UGT8	7368	broad.mit.edu	37	4	115585164	115585164	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:115585164G>T	uc003ibs.2	+	3	1358	c.836G>T	c.(835-837)TGG>TTG	p.W279L	UGT8_uc003ibt.2_Missense_Mutation_p.W279L|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	279					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)														---	---	---	---	capture		Missense_Mutation	SNP	115585164	115585164	17523	4	G	T	T	47	47	UGT8	T	2	2
ADAD1	132612	broad.mit.edu	37	4	123317446	123317446	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123317446T>C	uc003ieo.2	+	7	870	c.638T>C	c.(637-639)GTT>GCT	p.V213A	ADAD1_uc003iep.2_Missense_Mutation_p.V213A|ADAD1_uc003ieq.2_Missense_Mutation_p.V195A	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1	213					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	123317446	123317446	232	4	T	C	C	60	60	ADAD1	C	4	4
TKTL2	84076	broad.mit.edu	37	4	164393684	164393684	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:164393684G>A	uc003iqp.3	-	1	1364	c.1203C>T	c.(1201-1203)TTC>TTT	p.F401F		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	401						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)																---	---	---	---	capture		Silent	SNP	164393684	164393684	16465	4	G	A	A	37	37	TKTL2	A	1	1
MORF4	10934	broad.mit.edu	37	4	174537470	174537470	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:174537470A>T	uc011cke.1	-	1	325	c.325T>A	c.(325-327)TAT>AAT	p.Y109N		NM_006792	NP_006783			mortality factor 4												0		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)		all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)														---	---	---	---	capture		Missense_Mutation	SNP	174537470	174537470	10096	4	A	T	T	15	15	MORF4	T	4	4
GPM6A	2823	broad.mit.edu	37	4	176622806	176622806	+	Silent	SNP	C	T	T	rs144181937		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:176622806C>T	uc003iuf.2	-	2	954	c.150G>A	c.(148-150)GCG>GCA	p.A50A	GPM6A_uc011ckj.1_Silent_p.A43A|GPM6A_uc003iug.2_Silent_p.A50A|GPM6A_uc003iuh.2_Silent_p.A39A	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	50	Extracellular (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)														---	---	---	---	capture		Silent	SNP	176622806	176622806	6889	4	C	T	T	27	27	GPM6A	T	1	1
NSUN2	54888	broad.mit.edu	37	5	6620317	6620317	+	Silent	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:6620317G>C	uc003jdu.2	-	7	782	c.717C>G	c.(715-717)GTC>GTG	p.V239V	NSUN2_uc003jdt.2_Silent_p.V3V|NSUN2_uc011cmk.1_Silent_p.V204V|NSUN2_uc003jdv.2_Silent_p.V3V	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	239						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	6620317	6620317	11083	5	G	C	C	45	45	NSUN2	C	3	3
NSUN2	54888	broad.mit.edu	37	5	6632754	6632754	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:6632754C>A	uc003jdu.2	-	2	277	c.212G>T	c.(211-213)AGG>ATG	p.R71M	NSUN2_uc011cmk.1_Missense_Mutation_p.R71M|NSUN2_uc003jdv.2_Translation_Start_Site|SRD5A1_uc003jdw.2_5'Flank|SRD5A1_uc011cml.1_5'Flank|SRD5A1_uc011cmm.1_5'Flank	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	NOL1/NOP2/Sun domain family, member 2	71						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	6632754	6632754	11083	5	C	A	A	24	24	NSUN2	A	2	2
MARCH6	10299	broad.mit.edu	37	5	10382034	10382034	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10382034G>T	uc003jet.1	+	4	496	c.313G>T	c.(313-315)GGA>TGA	p.G105*	MARCH6_uc011cmu.1_Intron|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Intron	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	105	Helical; (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	10382034	10382034	9688	5	G	T	T	43	43	MARCH6	T	5	2
CTNND2	1501	broad.mit.edu	37	5	11159741	11159741	+	Silent	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:11159741C>T	uc003jfa.1	-	12	2251	c.2106G>A	c.(2104-2106)CGG>CGA	p.R702R	CTNND2_uc010itt.2_Silent_p.R611R|CTNND2_uc011cmy.1_Silent_p.R365R|CTNND2_uc011cmz.1_Silent_p.R269R|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.R269R	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	702	ARM 5.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8																		---	---	---	---	capture		Silent	SNP	11159741	11159741	4179	5	C	T	T	30	30	CTNND2	T	2	2
CDH9	1007	broad.mit.edu	37	5	26902777	26902777	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:26902777G>T	uc003jgs.1	-	7	1230	c.1061C>A	c.(1060-1062)CCT>CAT	p.P354H		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	354	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	26902777	26902777	3246	5	G	T	T	35	35	CDH9	T	2	2
RNASEN	29102	broad.mit.edu	37	5	31521266	31521266	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31521266T>G	uc003jhg.2	-	5	1270	c.911A>C	c.(910-912)GAA>GCA	p.E304A	RNASEN_uc003jhh.2_Missense_Mutation_p.E304A|RNASEN_uc003jhi.2_Missense_Mutation_p.E304A|RNASEN_uc010iui.1_Intron	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	304	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	31521266	31521266	13894	5	T	G	G	62	62	RNASEN	G	4	4
RICTOR	253260	broad.mit.edu	37	5	38953603	38953603	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38953603C>A	uc003jlp.2	-	28	2774	c.2750G>T	c.(2749-2751)TGG>TTG	p.W917L	RICTOR_uc003jlo.2_Missense_Mutation_p.W917L|RICTOR_uc010ivf.2_Missense_Mutation_p.W632L	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	917					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---	capture		Missense_Mutation	SNP	38953603	38953603	13833	5	C	A	A	21	21	RICTOR	A	2	2
HEATR7B2	133558	broad.mit.edu	37	5	41018458	41018458	+	Silent	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41018458C>G	uc003jmj.3	-	27	3238	c.2748G>C	c.(2746-2748)CTG>CTC	p.L916L	HEATR7B2_uc003jmi.3_Silent_p.L471L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	916							binding			ovary(6)|central_nervous_system(2)	8																		---	---	---	---	capture		Silent	SNP	41018458	41018458	7318	5	C	G	G	29	29	HEATR7B2	G	3	3
HCN1	348980	broad.mit.edu	37	5	45267343	45267343	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45267343A>T	uc003jok.2	-	7	1656	c.1631T>A	c.(1630-1632)CTG>CAG	p.L544Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	544	cAMP.|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	45267343	45267343	7278	5	A	T	T	7	7	HCN1	T	4	4
GPBP1	65056	broad.mit.edu	37	5	56557016	56557016	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:56557016G>T	uc003jrh.3	+	11	2444	c.1170G>T	c.(1168-1170)AAG>AAT	p.K390N	GPBP1_uc010iwg.2_Missense_Mutation_p.K410N|GPBP1_uc003jri.3_Missense_Mutation_p.K219N|GPBP1_uc003jrj.3_Missense_Mutation_p.K382N|GPBP1_uc003jrk.3_Missense_Mutation_p.K397N|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)														---	---	---	---	capture		Missense_Mutation	SNP	56557016	56557016	6869	5	G	T	T	35	35	GPBP1	T	2	2
IPO11	51194	broad.mit.edu	37	5	61923053	61923053	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:61923053G>A	uc003jtc.2	+	30	3026	c.2836G>A	c.(2836-2838)GAG>AAG	p.E946K	IPO11_uc011cqr.1_Missense_Mutation_p.E986K|IPO11_uc010iwr.2_3'UTR|IPO11_uc003jte.2_Missense_Mutation_p.E65K	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	946						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)														---	---	---	---	capture		Missense_Mutation	SNP	61923053	61923053	8094	5	G	A	A	41	41	IPO11	A	2	2
SFRS12	140890	broad.mit.edu	37	5	65470820	65470820	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:65470820A>G	uc003juo.2	+	11	1843	c.1183A>G	c.(1183-1185)ACA>GCA	p.T395A	SFRS12_uc003jun.2_Missense_Mutation_p.T511A|SFRS12_uc010iwy.2_Missense_Mutation_p.T395A	NM_139168	NP_631907	Q8WXA9	SREK1_HUMAN	splicing factor, arginine/serine-rich 12 isoform	395	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding				0		Lung NSC(167;9.34e-06)|Prostate(74;0.00187)|Ovarian(174;0.0545)|Breast(144;0.0928)|Colorectal(97;0.234)		Lung(70;0.00449)														---	---	---	---	capture		Missense_Mutation	SNP	65470820	65470820	14656	5	A	G	G	2	2	SFRS12	G	4	4
VCAN	1462	broad.mit.edu	37	5	82841392	82841392	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82841392G>T	uc003kii.3	+	9	9658	c.9302G>T	c.(9301-9303)GGA>GTA	p.G3101V	VCAN_uc003kij.3_Missense_Mutation_p.G2114V|VCAN_uc010jau.2_Missense_Mutation_p.G1347V|VCAN_uc003kik.3_Missense_Mutation_p.G360V|VCAN_uc003kil.3_Missense_Mutation_p.G1765V	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	3101	EGF-like 1.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)														---	---	---	---	capture		Missense_Mutation	SNP	82841392	82841392	17703	5	G	T	T	41	41	VCAN	T	2	2
VCAN	1462	broad.mit.edu	37	5	82875859	82875859	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82875859G>T	uc003kii.3	+	14	10297	c.9941G>T	c.(9940-9942)CGT>CTT	p.R3314L	VCAN_uc003kij.3_Missense_Mutation_p.R2327L|VCAN_uc010jau.2_Missense_Mutation_p.R1560L|VCAN_uc003kik.3_Missense_Mutation_p.R573L|VCAN_uc003kil.3_Missense_Mutation_p.R1978L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	3314	Sushi.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)														---	---	---	---	capture		Missense_Mutation	SNP	82875859	82875859	17703	5	G	T	T	40	40	VCAN	T	1	1
GPR98	84059	broad.mit.edu	37	5	90025489	90025489	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90025489G>T	uc003kju.2	+	50	10553	c.10457G>T	c.(10456-10458)TGG>TTG	p.W3486L	GPR98_uc003kjt.2_Missense_Mutation_p.W1192L|GPR98_uc003kjv.2_Missense_Mutation_p.W1086L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3486	Extracellular (Potential).|EAR 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---	capture		Missense_Mutation	SNP	90025489	90025489	6997	5	G	T	T	47	47	GPR98	T	2	2
GPR98	84059	broad.mit.edu	37	5	90074906	90074906	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90074906C>A	uc003kju.2	+	64	13170	c.13074C>A	c.(13072-13074)CTC>CTA	p.L4358L	GPR98_uc003kjt.2_Silent_p.L2064L|GPR98_uc003kjw.2_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4358	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---	capture		Silent	SNP	90074906	90074906	6997	5	C	A	A	30	30	GPR98	A	2	2
FBN2	2201	broad.mit.edu	37	5	127614475	127614475	+	Silent	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127614475G>C	uc003kuu.2	-	57	7636	c.7197C>G	c.(7195-7197)TCC>TCG	p.S2399S		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2399	TB 9.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---	capture		Silent	SNP	127614475	127614475	5939	5	G	C	C	47	47	FBN2	C	3	3
AFF4	27125	broad.mit.edu	37	5	132240074	132240074	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132240074C>G	uc003kyd.2	-	6	1481	c.1073G>C	c.(1072-1074)GGC>GCC	p.G358A	AFF4_uc011cxk.1_Missense_Mutation_p.G36A|AFF4_uc003kye.1_Missense_Mutation_p.G358A	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	358	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---	capture		Missense_Mutation	SNP	132240074	132240074	360	5	C	G	G	26	26	AFF4	G	3	3
CATSPER3	347732	broad.mit.edu	37	5	134303750	134303750	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134303750G>T	uc003lag.2	+	1	137	c.69G>T	c.(67-69)GTG>GTT	p.V23V	PCBD2_uc011cxw.1_3'UTR	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	23	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---	capture		Silent	SNP	134303750	134303750	2808	5	G	T	T	47	47	CATSPER3	T	2	2
KIF20A	10112	broad.mit.edu	37	5	137517154	137517154	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137517154G>T	uc003lcj.2	+	3	705	c.209G>T	c.(208-210)AGG>ATG	p.R70M	BRD8_uc003lcf.1_5'Flank|BRD8_uc003lcg.2_5'Flank|BRD8_uc003lci.2_5'Flank|BRD8_uc003lch.2_5'Flank|BRD8_uc011cym.1_5'Flank|BRD8_uc011cyn.1_5'Flank|BRD8_uc010jes.1_5'Flank|KIF20A_uc011cyo.1_Intron	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	70	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---	capture		Missense_Mutation	SNP	137517154	137517154	8597	5	G	T	T	35	35	KIF20A	T	2	2
LRRTM2	26045	broad.mit.edu	37	5	138209074	138209074	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138209074C>A	uc011cyz.1	-	2	1633	c.1176G>T	c.(1174-1176)GTG>GTT	p.V392V	CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Silent_p.V258V|CTNNA1_uc003ldl.2_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	392	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---	capture		Silent	SNP	138209074	138209074	9416	5	C	A	A	21	21	LRRTM2	A	2	2
PCDHA6	56142	broad.mit.edu	37	5	140209210	140209210	+	Missense_Mutation	SNP	G	A	A	rs138462086	byFrequency	TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140209210G>A	uc003lho.2	+	1	1561	c.1534G>A	c.(1534-1536)GCG>ACG	p.A512T	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.A512T|PCDHA6_uc011dab.1_Missense_Mutation_p.A512T	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	512	Cadherin 5.|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)															---	---	---	---	capture		Missense_Mutation	SNP	140209210	140209210	11948	5	G	A	A	38	38	PCDHA6	A	1	1
PCDHA8	56140	broad.mit.edu	37	5	140222505	140222505	+	Silent	SNP	C	T	T	rs147542523		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140222505C>T	uc003lhs.2	+	1	1599	c.1599C>T	c.(1597-1599)TTC>TTT	p.F533F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.F533F	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	533	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	140222505	140222505	11950	5	C	T	T	30	30	PCDHA8	T	2	2
PCDHB13	56123	broad.mit.edu	37	5	140596009	140596009	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140596009C>A	uc003lja.1	+	1	2501	c.2314C>A	c.(2314-2316)CCC>ACC	p.P772T		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	772	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Missense_Mutation	SNP	140596009	140596009	11958	5	C	A	A	22	22	PCDHB13	A	2	2
PCDHGB1	56104	broad.mit.edu	37	5	140732021	140732021	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140732021G>A	uc003ljo.1	+	1	2194	c.2194G>A	c.(2194-2196)GGG>AGG	p.G732R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Missense_Mutation_p.G732R|PCDHGA4_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	732	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140732021	140732021	11982	5	G	A	A	47	47	PCDHGB1	A	2	2
PCDHGA5	56110	broad.mit.edu	37	5	140744378	140744378	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140744378G>T	uc003lju.1	+	1	481	c.481G>T	c.(481-483)GAT>TAT	p.D161Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.D161Y	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	161	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140744378	140744378	11977	5	G	T	T	41	41	PCDHGA5	T	2	2
NR3C1	2908	broad.mit.edu	37	5	142779601	142779601	+	Silent	SNP	G	T	T	rs6199	by1000genomes	TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:142779601G>T	uc003lmz.2	-	2	1296	c.804C>A	c.(802-804)CCC>CCA	p.P268P	NR3C1_uc003lmy.2_Silent_p.P268P|NR3C1_uc003lna.2_Silent_p.P268P|NR3C1_uc003lnb.2_Silent_p.P268P|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Silent_p.P268P|NR3C1_uc003lnd.2_Silent_p.P268P|NR3C1_uc003lne.2_Silent_p.P268P|NR3C1_uc003lnf.2_Silent_p.P268P|NR3C1_uc003lng.2_Silent_p.P268P|NR3C1_uc003lnh.2_Silent_p.P268P|NR3C1_uc003lni.2_Silent_p.P268P	NM_000176	NP_000167	P04150	GCR_HUMAN	glucocorticoid receptor isoform alpha	268	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)													---	---	---	---	capture		Silent	SNP	142779601	142779601	11035	5	G	T	T	47	47	NR3C1	T	2	2
FAM114A2	10827	broad.mit.edu	37	5	153406071	153406071	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153406071G>C	uc003lvb.2	-	8	1389	c.801C>G	c.(799-801)ATC>ATG	p.I267M	FAM114A2_uc003lvc.2_Missense_Mutation_p.I267M|FAM114A2_uc003lvd.2_Missense_Mutation_p.I267M|FAM114A2_uc003lve.2_Missense_Mutation_p.I83M|FAM114A2_uc011dda.1_Missense_Mutation_p.I197M	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	hypothetical protein LOC10827	267							purine nucleotide binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	153406071	153406071	5601	5	G	C	C	41	41	FAM114A2	C	3	3
GEMIN5	25929	broad.mit.edu	37	5	154308114	154308114	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154308114G>T	uc003lvx.3	-	6	970	c.887C>A	c.(886-888)CCA>CAA	p.P296Q	GEMIN5_uc011ddk.1_Missense_Mutation_p.P295Q	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	296	WD 5.				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---	capture		Missense_Mutation	SNP	154308114	154308114	6599	5	G	T	T	47	47	GEMIN5	T	2	2
ITK	3702	broad.mit.edu	37	5	156608051	156608051	+	Silent	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156608051T>A	uc003lwo.1	+	1	145	c.63T>A	c.(61-63)ACT>ACA	p.T21T		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	21	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)					T	SYK	peripheral T-cell lymphoma								---	---	---	---	capture		Silent	SNP	156608051	156608051	8213	5	T	A	A	56	56	ITK	A	4	4
FBXW11	23291	broad.mit.edu	37	5	171297857	171297857	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:171297857C>G	uc003mbm.1	-	10	1654	c.1283G>C	c.(1282-1284)TGG>TCG	p.W428S	FBXW11_uc011dey.1_Missense_Mutation_p.W396S|FBXW11_uc003mbl.1_Missense_Mutation_p.W415S|FBXW11_uc003mbn.1_Missense_Mutation_p.W394S	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11 isoform	428	WD 5.				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)|breast(1)	2	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---	capture		Missense_Mutation	SNP	171297857	171297857	6001	5	C	G	G	21	21	FBXW11	G	3	3
SH3PXD2B	285590	broad.mit.edu	37	5	171833301	171833301	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:171833301C>A	uc003mbr.2	-	3	383	c.212G>T	c.(211-213)CGG>CTG	p.R71L	SH3PXD2B_uc003mbs.1_Missense_Mutation_p.R71L	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	71	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---	capture		Missense_Mutation	SNP	171833301	171833301	14749	5	C	A	A	23	23	SH3PXD2B	A	1	1
C5orf25	375484	broad.mit.edu	37	5	175717524	175717524	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:175717524G>T	uc003mds.3	+	4	1347	c.940G>T	c.(940-942)GGG>TGG	p.G314W	C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.G333W|uc003mdu.1_Missense_Mutation_p.G225W			Q8NDZ2	CE025_HUMAN	RecName: Full=Uncharacterized protein C5orf25;	314	Pro-rich.										0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)														---	---	---	---	capture		Missense_Mutation	SNP	175717524	175717524	2386	5	G	T	T	35	35	C5orf25	T	2	2
NSD1	64324	broad.mit.edu	37	5	176665381	176665381	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176665381C>A	uc003mfr.3	+	7	4203	c.4065C>A	c.(4063-4065)CCC>CCA	p.P1355P	NSD1_uc003mft.3_Silent_p.P1086P|NSD1_uc003mfs.1_Silent_p.P1252P|NSD1_uc011dfx.1_Silent_p.P1003P	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1355					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---	capture		Silent	SNP	176665381	176665381	11074	5	C	A	A	24	24	NSD1	A	2	2
RREB1	6239	broad.mit.edu	37	6	7231569	7231569	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7231569C>A	uc003mxc.2	+	10	3627	c.3237C>A	c.(3235-3237)CCC>CCA	p.P1079P	RREB1_uc003mxb.2_Silent_p.P1079P|RREB1_uc010jnx.2_Silent_p.P1079P	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1079					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)																---	---	---	---	capture		Silent	SNP	7231569	7231569	14159	6	C	A	A	21	21	RREB1	A	2	2
CD83	9308	broad.mit.edu	37	6	14118260	14118260	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:14118260G>T	uc003nbi.2	+	2	295	c.117G>T	c.(115-117)TGG>TGT	p.W39C	CD83_uc003nbh.2_Missense_Mutation_p.W39C	NM_004233	NP_004224	Q01151	CD83_HUMAN	CD83 antigen isoform a	39	Extracellular (Potential).|Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane					0	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)																---	---	---	---	capture		Missense_Mutation	SNP	14118260	14118260	3169	6	G	T	T	43	43	CD83	T	2	2
ZNF165	7718	broad.mit.edu	37	6	28053949	28053949	+	Splice_Site	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28053949G>A	uc003nkg.2	+	4	1496	c.412_splice	c.e4-1	p.V138_splice	ZNF165_uc003nkh.2_Splice_Site_p.V138_splice|ZNF165_uc003nki.3_Splice_Site_p.V138_splice	NM_003447	NP_003438			zinc finger protein 165						viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---	capture		Splice_Site	SNP	28053949	28053949	18331	6	G	A	A	35	35	ZNF165	A	5	2
SCAND3	114821	broad.mit.edu	37	6	28543760	28543760	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28543760G>T	uc003nlo.2	-	3	1340	c.722C>A	c.(721-723)ACT>AAT	p.T241N		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	241					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	28543760	28543760	14357	6	G	T	T	36	36	SCAND3	T	2	2
TRIM26	7726	broad.mit.edu	37	6	30154063	30154063	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30154063C>A	uc003npr.2	-	9	1419	c.1210G>T	c.(1210-1212)GGG>TGG	p.G404W	TRIM26_uc003nps.2_Missense_Mutation_p.G404W|TRIM26_uc010jry.2_Missense_Mutation_p.G134W|TRIM26_uc003npt.2_Missense_Mutation_p.G404W	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	404	B30.2/SPRY.						DNA binding|zinc ion binding			ovary(2)|lung(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	30154063	30154063	17044	6	C	A	A	21	21	TRIM26	A	2	2
GNL1	2794	broad.mit.edu	37	6	30515028	30515028	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30515028G>A	uc003nqh.2	-	10	2330	c.1302C>T	c.(1300-1302)ATC>ATT	p.I434I	GNL1_uc011dmi.1_Silent_p.I231I|GNL1_uc011dmj.1_Silent_p.I432I|GNL1_uc011dmk.1_Silent_p.I89I	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	434					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3																		---	---	---	---	capture		Silent	SNP	30515028	30515028	6804	6	G	A	A	37	37	GNL1	A	1	1
SLC44A4	80736	broad.mit.edu	37	6	31842560	31842560	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31842560C>T	uc010jti.2	-	6	472	c.406G>A	c.(406-408)GTT>ATT	p.V136I	SLC44A4_uc011dol.1_Missense_Mutation_p.V60I|SLC44A4_uc011dom.1_Intron	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	136	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)													---	---	---	---	capture		Missense_Mutation	SNP	31842560	31842560	15135	6	C	T	T	17	17	SLC44A4	T	2	2
CFB	629	broad.mit.edu	37	6	31914323	31914323	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31914323G>T	uc003nyj.3	+	2	516	c.238G>T	c.(238-240)GGG>TGG	p.G80W	CFB_uc011dor.1_Missense_Mutation_p.G582W|CFB_uc011dos.1_Missense_Mutation_p.G80W|CFB_uc003nyi.2_Missense_Mutation_p.G80W	NM_001710	NP_001701	P00751	CFAB_HUMAN	complement factor B preproprotein	80	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	31914323	31914323	3411	6	G	T	T	43	43	CFB	T	2	2
TCP11	6954	broad.mit.edu	37	6	35090020	35090020	+	Missense_Mutation	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35090020T>A	uc003okd.2	-	5	672	c.491A>T	c.(490-492)CAT>CTT	p.H164L	TCP11_uc003ojz.1_Missense_Mutation_p.H89L|TCP11_uc003oka.2_Missense_Mutation_p.H89L|TCP11_uc003okb.2_Missense_Mutation_p.H88L|TCP11_uc003okc.2_Missense_Mutation_p.H88L|TCP11_uc011dsu.1_Missense_Mutation_p.H146L|TCP11_uc011dsv.1_Missense_Mutation_p.H113L|TCP11_uc011dsw.1_Missense_Mutation_p.H118L	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	151					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)|skin(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	35090020	35090020	16239	6	T	A	A	51	51	TCP11	A	4	4
C6orf130	221443	broad.mit.edu	37	6	41037854	41037854	+	Silent	SNP	C	A	A	rs144524444	byFrequency	TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41037854C>A	uc003opm.2	-	4	376	c.204G>T	c.(202-204)GTG>GTT	p.V68V	UNC5CL_uc010jxe.1_5'UTR|C6orf130_uc010jxg.2_Silent_p.V68V|C6orf130_uc003opn.2_Silent_p.V68V|C6orf130_uc010jxh.1_Silent_p.V68V|NFYA_uc003opo.2_5'Flank|NFYA_uc003opp.2_5'Flank	NM_145063	NP_659500	Q9Y530	CF130_HUMAN	hypothetical protein LOC221443	68	Macro.										0	Ovarian(28;0.0418)|Colorectal(47;0.196)																	---	---	---	---	capture		Silent	SNP	41037854	41037854	2431	6	C	A	A	21	21	C6orf130	A	2	2
CUL9	23113	broad.mit.edu	37	6	43155591	43155591	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43155591G>A	uc003ouk.2	+	7	1797	c.1722G>A	c.(1720-1722)CTG>CTA	p.L574L	CUL9_uc003ouj.1_Silent_p.L464L|CUL9_uc003oul.2_Silent_p.L574L|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Silent_p.L32L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	574					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---	capture		Silent	SNP	43155591	43155591	4221	6	G	A	A	46	46	CUL9	A	2	2
ZNF318	24149	broad.mit.edu	37	6	43306887	43306887	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43306887G>C	uc003oux.2	-	10	4927	c.4849C>G	c.(4849-4851)CCT>GCT	p.P1617A	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1617					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)															---	---	---	---	capture		Missense_Mutation	SNP	43306887	43306887	18428	6	G	C	C	41	41	ZNF318	C	3	3
SUPT3H	8464	broad.mit.edu	37	6	44921148	44921148	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44921148C>G	uc003oxo.2	-	11	1051	c.733G>C	c.(733-735)GAT>CAT	p.D245H	SUPT3H_uc003oxn.1_Missense_Mutation_p.D234H|SUPT3H_uc011dvv.1_Missense_Mutation_p.D82H|SUPT3H_uc003oxp.2_Missense_Mutation_p.D234H|SUPT3H_uc011dvw.1_Missense_Mutation_p.D148H	NM_181356	NP_852001	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog isoform 2	316					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			ovary(2)|breast(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	44921148	44921148	15917	6	C	G	G	30	30	SUPT3H	G	3	3
RHAG	6005	broad.mit.edu	37	6	49604511	49604511	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49604511G>A	uc003ozk.3	-	1	77	c.15C>T	c.(13-15)TTC>TTT	p.F5F	RHAG_uc010jzl.2_Silent_p.F5F|RHAG_uc010jzm.2_Silent_p.F5F	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	5	Helical; (Potential).				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|skin(1)	2	Lung NSC(77;0.0255)																	---	---	---	---	capture		Silent	SNP	49604511	49604511	13790	6	G	A	A	41	41	RHAG	A	2	2
PKHD1	5314	broad.mit.edu	37	6	51882299	51882299	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51882299G>T	uc003pah.1	-	34	5785	c.5509C>A	c.(5509-5511)CTC>ATC	p.L1837I	PKHD1_uc003pai.2_Missense_Mutation_p.L1837I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1837	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---	capture		Missense_Mutation	SNP	51882299	51882299	12396	6	G	T	T	35	35	PKHD1	T	2	2
IL17A	3605	broad.mit.edu	37	6	52052456	52052456	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52052456C>A	uc003pak.1	+	2	128	c.83C>A	c.(82-84)CCA>CAA	p.P28Q		NM_002190	NP_002181	Q16552	IL17_HUMAN	interleukin 17A precursor	28					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity				0	Lung NSC(77;0.116)																	---	---	---	---	capture		Missense_Mutation	SNP	52052456	52052456	7935	6	C	A	A	21	21	IL17A	A	2	2
FAM83B	222584	broad.mit.edu	37	6	54805608	54805608	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:54805608C>A	uc003pck.2	+	5	1955	c.1839C>A	c.(1837-1839)ACC>ACA	p.T613T		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	613										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)																	---	---	---	---	capture		Silent	SNP	54805608	54805608	5860	6	C	A	A	24	24	FAM83B	A	2	2
PRIM2	5558	broad.mit.edu	37	6	57398208	57398208	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:57398208G>A	uc003pdx.2	+	10	998	c.911G>A	c.(910-912)GGA>GAA	p.G304E		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	304					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)														---	---	---	---	capture		Missense_Mutation	SNP	57398208	57398208	12934	6	G	A	A	41	41	PRIM2	A	2	2
COL19A1	1310	broad.mit.edu	37	6	70873266	70873266	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70873266C>A	uc003pfc.1	+	36	2495	c.2378C>A	c.(2377-2379)CCC>CAC	p.P793H	COL19A1_uc010kam.1_Missense_Mutation_p.P689H	NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	793	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	70873266	70873266	3814	6	C	A	A	22	22	COL19A1	A	2	2
PHIP	55023	broad.mit.edu	37	6	79672925	79672925	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:79672925C>A	uc003pir.2	-	30	3650	c.3424G>T	c.(3424-3426)GGT>TGT	p.G1142C	PHIP_uc003piq.2_Missense_Mutation_p.G166C|PHIP_uc011dyp.1_Missense_Mutation_p.G1141C|PHIP_uc003pio.3_Missense_Mutation_p.G28C	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1142					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)														---	---	---	---	capture		Missense_Mutation	SNP	79672925	79672925	12266	6	C	A	A	21	21	PHIP	A	2	2
TBX18	9096	broad.mit.edu	37	6	85448232	85448232	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:85448232G>T	uc003pkl.1	-	7	1082	c.1082C>A	c.(1081-1083)CCT>CAT	p.P361H	TBX18_uc010kbq.1_Missense_Mutation_p.P203H	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	361					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)														---	---	---	---	capture		Missense_Mutation	SNP	85448232	85448232	16179	6	G	T	T	35	35	TBX18	T	2	2
MDN1	23195	broad.mit.edu	37	6	90440607	90440607	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90440607C>T	uc003pnn.1	-	35	5094	c.4978G>A	c.(4978-4980)GCA>ACA	p.A1660T		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	1660					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---	capture		Missense_Mutation	SNP	90440607	90440607	9804	6	C	T	T	26	26	MDN1	T	2	2
KLHL32	114792	broad.mit.edu	37	6	97562194	97562194	+	Missense_Mutation	SNP	G	T	T	rs143481422		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:97562194G>T	uc010kcm.1	+	7	1635	c.1163G>T	c.(1162-1164)CGG>CTG	p.R388L	KLHL32_uc003poy.2_Missense_Mutation_p.R388L|KLHL32_uc011ead.1_Missense_Mutation_p.R352L|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Missense_Mutation_p.R319L|KLHL32_uc003ppa.2_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	388	Kelch 2.									ovary(3)|skin(1)	4		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)														---	---	---	---	capture		Missense_Mutation	SNP	97562194	97562194	8699	6	G	T	T	39	39	KLHL32	T	1	1
ENPP1	5167	broad.mit.edu	37	6	132206132	132206132	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132206132C>A	uc011ecf.1	+	23	2393	c.2373C>A	c.(2371-2373)GTC>GTA	p.V791V		NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	791	Nuclease.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)													---	---	---	---	capture		Silent	SNP	132206132	132206132	5322	6	C	A	A	29	29	ENPP1	A	2	2
ECT2L	345930	broad.mit.edu	37	6	139175174	139175174	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139175174G>T	uc003qif.1	+	8	1184	c.1081G>T	c.(1081-1083)GGT>TGT	p.G361C	ECT2L_uc011edq.1_Missense_Mutation_p.G292C	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	361					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	139175174	139175174	5089	6	G	T	T	47	47	ECT2L	T	2	2
ARID1B	57492	broad.mit.edu	37	6	157522468	157522468	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157522468G>T	uc003qqn.2	+	18	4838	c.4686G>T	c.(4684-4686)ATG>ATT	p.M1562I	ARID1B_uc003qqo.2_Missense_Mutation_p.M1522I|ARID1B_uc003qqp.2_Missense_Mutation_p.M1509I	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1567	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---	capture		Missense_Mutation	SNP	157522468	157522468	929	6	G	T	T	46	46	ARID1B	T	2	2
PLG	5340	broad.mit.edu	37	6	161139439	161139439	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161139439G>T	uc003qtm.3	+	8	964	c.901G>T	c.(901-903)GCA>TCA	p.A301S		NM_000301	NP_000292	P00747	PLMN_HUMAN	plasminogen	301	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)													---	---	---	---	capture		Missense_Mutation	SNP	161139439	161139439	12512	6	G	T	T	46	46	PLG	T	2	2
AGPAT4	56895	broad.mit.edu	37	6	161587445	161587445	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161587445C>A	uc003qtr.1	-	3	410	c.183G>T	c.(181-183)CTG>CTT	p.L61L	AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Silent_p.L61L|AGPAT4_uc011egd.1_5'UTR|AGPAT4_uc011ege.1_Intron	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	61					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding				0		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)														---	---	---	---	capture		Silent	SNP	161587445	161587445	392	6	C	A	A	21	21	AGPAT4	A	2	2
USP42	84132	broad.mit.edu	37	7	6189676	6189676	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6189676G>A	uc011jwo.1	+	13	1972	c.1849G>A	c.(1849-1851)GAG>AAG	p.E617K	USP42_uc010kth.1_Missense_Mutation_p.E550K|USP42_uc011jwp.1_Missense_Mutation_p.E617K|USP42_uc011jwq.1_Missense_Mutation_p.E424K|USP42_uc011jwr.1_Missense_Mutation_p.E462K	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	617					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)														---	---	---	---	capture		Missense_Mutation	SNP	6189676	6189676	17637	7	G	A	A	37	37	USP42	A	1	1
MEOX2	4223	broad.mit.edu	37	7	15725863	15725863	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:15725863G>T	uc003stc.2	-	1	446	c.165C>A	c.(163-165)AAC>AAA	p.N55K	MEOX2_uc011jxw.1_Missense_Mutation_p.N55K	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	55					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)														---	---	---	---	capture		Missense_Mutation	SNP	15725863	15725863	9863	7	G	T	T	40	40	MEOX2	T	1	1
DNAH11	8701	broad.mit.edu	37	7	21657321	21657321	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21657321C>A	uc003svc.2	+	23	4226	c.4195C>A	c.(4195-4197)CTG>ATG	p.L1399M		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1399	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	21657321	21657321	4781	7	C	A	A	24	24	DNAH11	A	2	2
SKAP2	8935	broad.mit.edu	37	7	26883742	26883742	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:26883742C>A	uc003syc.2	-	4	507	c.214G>T	c.(214-216)GGG>TGG	p.G72W	SKAP2_uc011jzi.1_5'UTR|SKAP2_uc011jzj.1_Missense_Mutation_p.G57W	NM_003930	NP_003921	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	72					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	26883742	26883742	14851	7	C	A	A	21	21	SKAP2	A	2	2
GARS	2617	broad.mit.edu	37	7	30640801	30640801	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30640801C>A	uc003tbm.2	+	4	911	c.554C>A	c.(553-555)CCT>CAT	p.P185H		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	185					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)													---	---	---	---	capture		Missense_Mutation	SNP	30640801	30640801	6506	7	C	A	A	24	24	GARS	A	2	2
BMPER	168667	broad.mit.edu	37	7	34094843	34094843	+	Silent	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:34094843T>C	uc011kap.1	+	9	969	c.855T>C	c.(853-855)TGT>TGC	p.C285C		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	285	VWFC 4.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	34094843	34094843	1493	7	T	C	C	60	60	BMPER	C	4	4
SEPT7	989	broad.mit.edu	37	7	35919506	35919506	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:35919506G>T	uc010kxc.2	+	6	779	c.586G>T	c.(586-588)GCA>TCA	p.A196S	SEPT7_uc011kat.1_Missense_Mutation_p.A195S|SEPT7_uc011kau.1_Missense_Mutation_p.A160S|SEPT7_uc011kav.1_Missense_Mutation_p.A143S|SEPT7_uc003tey.2_Missense_Mutation_p.A44S	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	cell division cycle 10 isoform 1	196	GTP (By similarity).				cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	35919506	35919506	14555	7	G	T	T	34	34	SEPT7	T	2	2
AOAH	313	broad.mit.edu	37	7	36634000	36634000	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36634000C>A	uc003tfh.3	-	12	1284	c.883G>T	c.(883-885)GAG>TAG	p.E295*	AOAH_uc010kxf.2_Nonsense_Mutation_p.E295*|AOAH_uc011kba.1_Nonsense_Mutation_p.E263*	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	295					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	36634000	36634000	736	7	C	A	A	31	31	AOAH	A	5	1
GPR141	353345	broad.mit.edu	37	7	37780665	37780665	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37780665C>A	uc003tfm.1	+	1	670	c.670C>A	c.(670-672)CAG>AAG	p.Q224K	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	224	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	37780665	37780665	6923	7	C	A	A	29	29	GPR141	A	2	2
PKD1L1	168507	broad.mit.edu	37	7	47879152	47879152	+	Silent	SNP	C	A	A	rs140534324		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47879152C>A	uc003tny.1	-	36	5661	c.5661G>T	c.(5659-5661)ACG>ACT	p.T1887T		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1887	PLAT.|Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---	capture		Silent	SNP	47879152	47879152	12388	7	C	A	A	23	23	PKD1L1	A	1	1
ZNF479	90827	broad.mit.edu	37	7	57187643	57187643	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:57187643G>T	uc010kzo.2	-	5	1750	c.1479C>A	c.(1477-1479)TAC>TAA	p.Y493*		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	493	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)															---	---	---	---	capture		Nonsense_Mutation	SNP	57187643	57187643	18527	7	G	T	T	48	48	ZNF479	T	5	2
GUSB	2990	broad.mit.edu	37	7	65444483	65444483	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65444483G>A	uc003tun.2	-	4	703	c.627C>T	c.(625-627)TTC>TTT	p.F209F	GUSB_uc011kdt.1_Intron|GUSB_uc010kzw.1_Missense_Mutation_p.S38L	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	209					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0																		---	---	---	---	capture		Silent	SNP	65444483	65444483	7182	7	G	A	A	45	45	GUSB	A	2	2
WBSCR17	64409	broad.mit.edu	37	7	71177096	71177096	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:71177096G>T	uc003tvy.2	+	11	1762	c.1762G>T	c.(1762-1764)GGT>TGT	p.G588C	WBSCR17_uc003tvz.2_Missense_Mutation_p.G287C	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	588	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)																---	---	---	---	capture		Missense_Mutation	SNP	71177096	71177096	17836	7	G	T	T	35	35	WBSCR17	T	2	2
HIP1	3092	broad.mit.edu	37	7	75168666	75168666	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75168666C>A	uc003uds.1	-	30	3079	c.3038G>T	c.(3037-3039)GGT>GTT	p.G1013V	HIP1_uc011kfz.1_Missense_Mutation_p.G839V	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1013					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8								T	PDGFRB	CMML								---	---	---	---	capture		Missense_Mutation	SNP	75168666	75168666	7399	7	C	A	A	18	18	HIP1	A	2	2
CACNA2D1	781	broad.mit.edu	37	7	81978903	81978903	+	Missense_Mutation	SNP	C	T	T	rs79543314		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81978903C>T	uc003uhr.1	-	2	414	c.158G>A	c.(157-159)GGA>GAA	p.G53E		NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	53	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)													---	---	---	---	capture		Missense_Mutation	SNP	81978903	81978903	2664	7	C	T	T	30	30	CACNA2D1	T	2	2
PCLO	27445	broad.mit.edu	37	7	82764209	82764209	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82764209C>A	uc003uhx.2	-	3	2946	c.2657G>T	c.(2656-2658)GGC>GTC	p.G886V	PCLO_uc003uhv.2_Missense_Mutation_p.G886V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	832	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---	capture		Missense_Mutation	SNP	82764209	82764209	12003	7	C	A	A	26	26	PCLO	A	2	2
GRM3	2913	broad.mit.edu	37	7	86468775	86468775	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86468775G>T	uc003uid.2	+	4	3044	c.1945G>T	c.(1945-1947)GGG>TGG	p.G649W	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.G521W|GRM3_uc010leh.2_Missense_Mutation_p.G241W	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	649	Helical; Name=3; (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)													---	---	---	---	capture		Missense_Mutation	SNP	86468775	86468775	7077	7	G	T	T	43	43	GRM3	T	2	2
ZNF804B	219578	broad.mit.edu	37	7	88965101	88965101	+	Missense_Mutation	SNP	G	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88965101G>C	uc011khi.1	+	4	3343	c.2805G>C	c.(2803-2805)AAG>AAC	p.K935N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	935						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)												HNSCC(36;0.09)			---	---	---	---	capture		Missense_Mutation	SNP	88965101	88965101	18769	7	G	C	C	33	33	ZNF804B	C	3	3
COL1A2	1278	broad.mit.edu	37	7	94052384	94052384	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94052384C>A	uc003ung.1	+	40	2990	c.2519C>A	c.(2518-2520)CCT>CAT	p.P840H	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	840			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)										HNSCC(75;0.22)			---	---	---	---	capture		Missense_Mutation	SNP	94052384	94052384	3816	7	C	A	A	24	24	COL1A2	A	2	2
COL1A2	1278	broad.mit.edu	37	7	94057744	94057744	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94057744C>G	uc003ung.1	+	50	4137	c.3666C>G	c.(3664-3666)GAC>GAG	p.D1222E	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1222	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)										HNSCC(75;0.22)			---	---	---	---	capture		Missense_Mutation	SNP	94057744	94057744	3816	7	C	G	G	17	17	COL1A2	G	3	3
SMURF1	57154	broad.mit.edu	37	7	98645444	98645444	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98645444C>A	uc003upu.1	-	11	1413	c.1093G>T	c.(1093-1095)GAG>TAG	p.E365*	SMURF1_uc003upv.1_Nonsense_Mutation_p.E339*|SMURF1_uc003upt.2_Nonsense_Mutation_p.E339*	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Smad ubiquitination regulatory factor 1 isoform	365					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|lung(1)	4	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)															---	---	---	---	capture		Nonsense_Mutation	SNP	98645444	98645444	15319	7	C	A	A	30	30	SMURF1	A	5	2
GNB2	2783	broad.mit.edu	37	7	100275243	100275243	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100275243G>T	uc003uwb.2	+	6	663	c.390G>T	c.(388-390)GAG>GAT	p.E130D	GNB2_uc003uwc.2_Missense_Mutation_p.E86D|GNB2_uc010lhd.2_Missense_Mutation_p.E86D|GNB2_uc010lhe.2_Missense_Mutation_p.E86D|GNB2_uc003uwd.2_Missense_Mutation_p.E30D|GNB2_uc010lhf.2_Missense_Mutation_p.E30D|GNB2_uc003uwe.2_Missense_Mutation_p.E130D|GNB2_uc003uwf.2_Missense_Mutation_p.E30D	NM_005273	NP_005264	P62879	GBB2_HUMAN	guanine nucleotide-binding protein, beta-2	130					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			ovary(2)	2	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)																---	---	---	---	capture		Missense_Mutation	SNP	100275243	100275243	6786	7	G	T	T	35	35	GNB2	T	2	2
MUC17	140453	broad.mit.edu	37	7	100677455	100677455	+	Missense_Mutation	SNP	G	T	T	rs61075804	by1000genomes	TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100677455G>T	uc003uxp.1	+	3	2811	c.2758G>T	c.(2758-2760)GGG>TGG	p.G920W	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	920	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---	capture		Missense_Mutation	SNP	100677455	100677455	10368	7	G	T	T	47	47	MUC17	T	2	2
MUC17	140453	broad.mit.edu	37	7	100683152	100683152	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100683152C>A	uc003uxp.1	+	3	8508	c.8455C>A	c.(8455-8457)CAC>AAC	p.H2819N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2819	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---	capture		Missense_Mutation	SNP	100683152	100683152	10368	7	C	A	A	21	21	MUC17	A	2	2
CUX1	1523	broad.mit.edu	37	7	101840336	101840336	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:101840336G>T	uc003uyx.3	+	15	1683	c.1645G>T	c.(1645-1647)GAG>TAG	p.E549*	CUX1_uc003uys.3_Nonsense_Mutation_p.E560*|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	549	CUT 1.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---	capture		Nonsense_Mutation	SNP	101840336	101840336	4224	7	G	T	T	37	37	CUX1	T	5	1
RELN	5649	broad.mit.edu	37	7	103237091	103237091	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103237091C>A	uc003vca.2	-	25	3511	c.3351G>T	c.(3349-3351)CTG>CTT	p.L1117L	RELN_uc010liz.2_Silent_p.L1117L	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1117					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---	capture		Silent	SNP	103237091	103237091	13689	7	C	A	A	21	21	RELN	A	2	2
C7orf60	154743	broad.mit.edu	37	7	112462119	112462119	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:112462119G>T	uc003vgo.1	-	5	1025	c.898C>A	c.(898-900)CTG>ATG	p.L300M	C7orf60_uc011kms.1_Missense_Mutation_p.L326M	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	hypothetical protein LOC154743	300										ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	112462119	112462119	2514	7	G	T	T	35	35	C7orf60	T	2	2
MET	4233	broad.mit.edu	37	7	116340287	116340287	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116340287G>T	uc003vij.2	+	2	1336	c.1149G>T	c.(1147-1149)GTG>GTT	p.V383V	MET_uc010lkh.2_Silent_p.V383V|MET_uc011knc.1_Silent_p.V383V|MET_uc011knd.1_Silent_p.V383V|MET_uc011kne.1_Silent_p.V383V|MET_uc011knf.1_Silent_p.V383V|MET_uc011kng.1_Silent_p.V383V|MET_uc011knh.1_Silent_p.V383V|MET_uc011kni.1_Silent_p.V383V|MET_uc003vii.1_Silent_p.V402V|MET_uc010lkg.2_Silent_p.V383V|MET_uc011kmz.1_Silent_p.V383V|MET_uc011kna.1_Silent_p.V383V|MET_uc011knb.1_Silent_p.V383V	NM_000245	NP_000236	P08581	MET_HUMAN	met proto-oncogene isoform b precursor	383	Extracellular (Potential).|Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)					Mis		papillary renal|head-neck squamous cell 	papillary renal			Hereditary_Papillary_Renal_Carcinoma_(type_1)				---	---	---	---	capture		Silent	SNP	116340287	116340287	9874	7	G	T	T	45	45	MET	T	2	2
KCND2	3751	broad.mit.edu	37	7	119914843	119914843	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:119914843C>G	uc003vjj.1	+	1	1122	c.157C>G	c.(157-159)CAG>GAG	p.Q53E		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	53	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)																	---	---	---	---	capture		Missense_Mutation	SNP	119914843	119914843	8324	7	C	G	G	21	21	KCND2	G	3	3
FLNC	2318	broad.mit.edu	37	7	128485260	128485260	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128485260G>A	uc003vnz.3	+	21	3950	c.3741G>A	c.(3739-3741)GCG>GCA	p.A1247A	FLNC_uc003voa.3_Silent_p.A1247A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1247	Filamin 11.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12																		---	---	---	---	capture		Silent	SNP	128485260	128485260	6177	7	G	A	A	39	39	FLNC	A	1	1
WDR91	29062	broad.mit.edu	37	7	134890694	134890694	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134890694C>A	uc003vsp.2	-	5	773	c.711G>T	c.(709-711)CTG>CTT	p.L237L	WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91	237										breast(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Silent	SNP	134890694	134890694	17912	7	C	A	A	21	21	WDR91	A	2	2
DGKI	9162	broad.mit.edu	37	7	137172389	137172389	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137172389C>G	uc003vtt.2	-	23	2350	c.2349G>C	c.(2347-2349)GAG>GAC	p.E783D	DGKI_uc003vtu.2_Missense_Mutation_p.E483D	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	783					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	137172389	137172389	4650	7	C	G	G	32	32	DGKI	G	3	3
MGAM	8972	broad.mit.edu	37	7	141736005	141736005	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141736005C>A	uc003vwy.2	+	17	2050	c.1996C>A	c.(1996-1998)CCT>ACT	p.P666T		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	666	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)													---	---	---	---	capture		Missense_Mutation	SNP	141736005	141736005	9931	7	C	A	A	22	22	MGAM	A	2	2
MGAM	8972	broad.mit.edu	37	7	141758042	141758042	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141758042G>T	uc003vwy.2	+	31	3787	c.3733G>T	c.(3733-3735)GGG>TGG	p.G1245W		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	1245	Glucoamylase.|Lumenal (Potential).				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)													---	---	---	---	capture		Missense_Mutation	SNP	141758042	141758042	9931	7	G	T	T	43	43	MGAM	T	2	2
OR6V1	346517	broad.mit.edu	37	7	142750279	142750279	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142750279C>A	uc011ksv.1	+	1	842	c.842C>A	c.(841-843)CCC>CAC	p.P281H		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.059)																	---	---	---	---	capture		Missense_Mutation	SNP	142750279	142750279	11622	7	C	A	A	22	22	OR6V1	A	2	2
RP1L1	94137	broad.mit.edu	37	8	10464585	10464585	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10464585G>T	uc003wtc.2	-	4	7252	c.7023C>A	c.(7021-7023)ACC>ACA	p.T2341T		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2341					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---	capture		Silent	SNP	10464585	10464585	14012	8	G	T	T	47	47	RP1L1	T	2	2
CNOT7	29883	broad.mit.edu	37	8	17090016	17090016	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17090016C>G	uc003wxf.1	-	6	817	c.649G>C	c.(649-651)GAG>CAG	p.E217Q	CNOT7_uc003wxg.1_Missense_Mutation_p.E217Q|CNOT7_uc003wxh.1_Missense_Mutation_p.E217Q	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	217					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)	1				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)														---	---	---	---	capture		Missense_Mutation	SNP	17090016	17090016	3762	8	C	G	G	32	32	CNOT7	G	3	3
VPS37A	137492	broad.mit.edu	37	8	17137762	17137762	+	Silent	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17137762T>C	uc003wxj.2	+	8	1209	c.856T>C	c.(856-858)TTG>CTG	p.L286L	VPS37A_uc003wxk.2_Silent_p.L261L|VPS37A_uc003wxl.2_Silent_p.L63L	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	hepatocellular carcinoma related protein 1	286					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus					0				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)														---	---	---	---	capture		Silent	SNP	17137762	17137762	17772	8	T	C	C	64	64	VPS37A	C	4	4
LGI3	203190	broad.mit.edu	37	8	22012074	22012074	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22012074G>A	uc003xav.2	-	3	638	c.349C>T	c.(349-351)CTC>TTC	p.L117F	LGI3_uc010ltu.2_Missense_Mutation_p.L117F	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	117	LRR 2.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)														---	---	---	---	capture		Missense_Mutation	SNP	22012074	22012074	9079	8	G	A	A	33	33	LGI3	A	2	2
LYPLA1	10434	broad.mit.edu	37	8	54963627	54963627	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54963627G>A	uc003xry.2	-	8	778	c.584C>T	c.(583-585)CCA>CTA	p.P195L	LYPLA1_uc011ldx.1_Missense_Mutation_p.P156L|LYPLA1_uc003xrz.2_Missense_Mutation_p.P174L	NM_006330	NP_006321	O75608	LYPA1_HUMAN	lysophospholipase 1	195					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)															---	---	---	---	capture		Missense_Mutation	SNP	54963627	54963627	9493	8	G	A	A	47	47	LYPLA1	A	2	2
XKR4	114786	broad.mit.edu	37	8	56270408	56270408	+	Missense_Mutation	SNP	T	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:56270408T>G	uc003xsf.2	+	2	1009	c.977T>G	c.(976-978)GTA>GGA	p.V326G		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	326	Helical; (Potential).					integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)															---	---	---	---	capture		Missense_Mutation	SNP	56270408	56270408	18014	8	T	G	G	57	57	XKR4	G	4	4
CNBD1	168975	broad.mit.edu	37	8	88249239	88249239	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:88249239C>A	uc003ydy.2	+	6	718	c.670C>A	c.(670-672)CCA>ACA	p.P224T		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	224										ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	88249239	88249239	3729	8	C	A	A	18	18	CNBD1	A	2	2
CSMD3	114788	broad.mit.edu	37	8	113484877	113484877	+	Nonsense_Mutation	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113484877T>A	uc003ynu.2	-	32	5497	c.5338A>T	c.(5338-5340)AAA>TAA	p.K1780*	CSMD3_uc003yns.2_Nonsense_Mutation_p.K1052*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.K1740*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.K1676*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1780	Extracellular (Potential).|CUB 10.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---	capture		Nonsense_Mutation	SNP	113484877	113484877	4087	8	T	A	A	64	64	CSMD3	A	5	4
CSMD3	114788	broad.mit.edu	37	8	113694737	113694737	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113694737C>T	uc003ynu.2	-	16	2770	c.2611G>A	c.(2611-2613)GAA>AAA	p.E871K	CSMD3_uc003yns.2_Missense_Mutation_p.E143K|CSMD3_uc003ynt.2_Missense_Mutation_p.E831K|CSMD3_uc011lhx.1_Missense_Mutation_p.E767K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	871	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---	capture		Missense_Mutation	SNP	113694737	113694737	4087	8	C	T	T	32	32	CSMD3	T	2	2
ENPP2	5168	broad.mit.edu	37	8	120594825	120594825	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120594825G>A	uc003yot.1	-	18	1647	c.1561C>T	c.(1561-1563)CCA>TCA	p.P521S	ENPP2_uc011lic.1_Missense_Mutation_p.P38S|ENPP2_uc003yor.1_Missense_Mutation_p.P160S|ENPP2_uc003yos.1_Missense_Mutation_p.P573S|ENPP2_uc010mdd.1_Missense_Mutation_p.P521S	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	521					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---	capture		Missense_Mutation	SNP	120594825	120594825	5323	8	G	A	A	42	42	ENPP2	A	2	2
COL14A1	7373	broad.mit.edu	37	8	121292969	121292969	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121292969G>T	uc003yox.2	+	30	3931	c.3666G>T	c.(3664-3666)AAG>AAT	p.K1222N	COL14A1_uc003yoz.2_Missense_Mutation_p.K187N	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	1222	Nonhelical region (NC4).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---	capture		Missense_Mutation	SNP	121292969	121292969	3809	8	G	T	T	35	35	COL14A1	T	2	2
SNTB1	6641	broad.mit.edu	37	8	121706117	121706117	+	Silent	SNP	C	T	T	rs140148929	byFrequency	TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121706117C>T	uc010mdg.2	-	2	829	c.603G>A	c.(601-603)GTG>GTA	p.V201V	SNTB1_uc003ype.2_Silent_p.V201V	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	basic beta 1 syntrophin	201	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			skin(5)	5	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---	capture		Silent	SNP	121706117	121706117	15372	8	C	T	T	29	29	SNTB1	T	2	2
OC90	729330	broad.mit.edu	37	8	133036764	133036764	+	Silent	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133036764C>G	uc003ytg.2	-	13	1398	c.1398G>C	c.(1396-1398)CTG>CTC	p.L466L	OC90_uc011lix.1_Silent_p.L466L	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	482					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)															---	---	---	---	capture		Silent	SNP	133036764	133036764	11219	8	C	G	G	21	21	OC90	G	3	3
OC90	729330	broad.mit.edu	37	8	133053809	133053809	+	Missense_Mutation	SNP	A	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133053809A>C	uc003ytg.2	-	3	259	c.259T>G	c.(259-261)TTT>GTT	p.F87V	OC90_uc011lix.1_Missense_Mutation_p.F103V	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	103	Phospholipase A2-like 1.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)															---	---	---	---	capture		Missense_Mutation	SNP	133053809	133053809	11219	8	A	C	C	2	2	OC90	C	4	4
KANK1	23189	broad.mit.edu	37	9	732504	732504	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:732504G>T	uc003zgl.1	+	10	3781	c.3132G>T	c.(3130-3132)CGG>CGT	p.R1044R	KANK1_uc003zgm.2_3'UTR|KANK1_uc003zgn.1_Silent_p.R1044R|KANK1_uc003zgs.1_Silent_p.R886R|KANK1_uc010mgx.1_5'UTR|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	1044					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)														---	---	---	---	capture		Silent	SNP	732504	732504	8280	9	G	T	T	43	43	KANK1	T	2	2
TOPORS	10210	broad.mit.edu	37	9	32541567	32541567	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32541567G>A	uc003zrb.2	-	3	3123	c.2956C>T	c.(2956-2958)CCA>TCA	p.P986S	TOPORS_uc003zrc.2_Missense_Mutation_p.P919S	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	986					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)														---	---	---	---	capture		Missense_Mutation	SNP	32541567	32541567	16912	9	G	A	A	41	41	TOPORS	A	2	2
NUDT2	318	broad.mit.edu	37	9	34343164	34343164	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34343164G>T	uc003zub.2	+	5	528	c.170G>T	c.(169-171)AGG>ATG	p.R57M	NUDT2_uc003zuc.2_Missense_Mutation_p.R57M|NUDT2_uc003zud.2_Missense_Mutation_p.R57M	NM_001161	NP_001152	P50583	AP4A_HUMAN	nudix-type motif 2	57	Nudix box.|Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding				0			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)														---	---	---	---	capture		Missense_Mutation	SNP	34343164	34343164	11142	9	G	T	T	35	35	NUDT2	T	2	2
RASEF	158158	broad.mit.edu	37	9	85607851	85607851	+	Silent	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:85607851G>A	uc004amo.1	-	15	2271	c.2010C>T	c.(2008-2010)GTC>GTT	p.V670V		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	670					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3																		---	---	---	---	capture		Silent	SNP	85607851	85607851	13529	9	G	A	A	41	41	RASEF	A	2	2
NTRK2	4915	broad.mit.edu	37	9	87635255	87635255	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:87635255C>A	uc004aoa.1	+	19	3197	c.2259C>A	c.(2257-2259)CCC>CCA	p.P753P	NTRK2_uc004anz.1_Silent_p.P769P	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	753	Protein kinase.|Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16															TSP Lung(25;0.17)			---	---	---	---	capture		Silent	SNP	87635255	87635255	11112	9	C	A	A	24	24	NTRK2	A	2	2
C9orf79	286234	broad.mit.edu	37	9	90501084	90501084	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90501084C>A	uc004app.3	+	4	1717	c.1682C>A	c.(1681-1683)CCC>CAC	p.P561H	C9orf79_uc004apo.1_Missense_Mutation_p.P373H	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	561						integral to membrane				ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	90501084	90501084	2613	9	C	A	A	22	22	C9orf79	A	2	2
FBP2	8789	broad.mit.edu	37	9	97333785	97333785	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:97333785G>A	uc004auv.2	-	4	593	c.526C>T	c.(526-528)CTC>TTC	p.L176F	uc004auu.2_Intron	NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	176					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)																---	---	---	---	capture		Missense_Mutation	SNP	97333785	97333785	5942	9	G	A	A	33	33	FBP2	A	2	2
C9orf102	375748	broad.mit.edu	37	9	98669439	98669439	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98669439C>G	uc004avt.3	+	4	1095	c.707C>G	c.(706-708)ACT>AGT	p.T236S	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Intron|C9orf102_uc010mry.1_Intron|C9orf102_uc010mrz.2_Missense_Mutation_p.T47S	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	236	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---	capture		Missense_Mutation	SNP	98669439	98669439	2558	9	C	G	G	20	20	C9orf102	G	3	3
CTSL2	1515	broad.mit.edu	37	9	99797040	99797040	+	Silent	SNP	C	T	T	rs145877427		TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99797040C>T	uc004awt.2	-	7	1070	c.873G>A	c.(871-873)TCG>TCA	p.S291S	CTSL2_uc010msi.2_Silent_p.S291S|CTSL2_uc004awu.2_Silent_p.S236S|CTSL2_uc010msj.1_Silent_p.S236S	NM_001333	NP_001324	O60911	CATL2_HUMAN	cathepsin L2 preproprotein	291						lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---	capture		Silent	SNP	99797040	99797040	4198	9	C	T	T	31	31	CTSL2	T	1	1
ALG2	85365	broad.mit.edu	37	9	101980956	101980956	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101980956C>T	uc004azf.2	-	2	581	c.511G>A	c.(511-513)GAC>AAC	p.D171N	ALG2_uc004azg.2_Missense_Mutation_p.D78N	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	alpha-1,3-mannosyltransferase ALG2	171					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---	capture		Missense_Mutation	SNP	101980956	101980956	522	9	C	T	T	32	32	ALG2	T	2	2
CYLC2	1539	broad.mit.edu	37	9	105767646	105767646	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:105767646G>T	uc004bbs.2	+	5	803	c.733G>T	c.(733-735)GAG>TAG	p.E245*		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	245	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)																---	---	---	---	capture		Nonsense_Mutation	SNP	105767646	105767646	4307	9	G	T	T	45	45	CYLC2	T	5	2
C9orf84	158401	broad.mit.edu	37	9	114538119	114538119	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114538119G>T	uc004bfr.2	-	3	337	c.202C>A	c.(202-204)CCT>ACT	p.P68T	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.P132T	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	68										ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	114538119	114538119	2616	9	G	T	T	43	43	C9orf84	T	2	2
ZNF883	169834	broad.mit.edu	37	9	115760266	115760266	+	Missense_Mutation	SNP	T	C	C			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115760266T>C	uc011lwy.1	-	5	1513	c.274A>G	c.(274-276)ACT>GCT	p.T92A		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	hypothetical protein LOC169834	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	115760266	115760266	18802	9	T	C	C	57	57	ZNF883	C	4	4
AKNA	80709	broad.mit.edu	37	9	117122322	117122322	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117122322G>T	uc004biq.3	-	9	2280	c.2145C>A	c.(2143-2145)GCC>GCA	p.A715A	AKNA_uc004bin.3_5'UTR|AKNA_uc004bio.3_Silent_p.A175A|AKNA_uc004bip.3_Silent_p.A634A|AKNA_uc004bir.3_Silent_p.A715A|AKNA_uc004bis.3_Silent_p.A715A|AKNA_uc010mve.2_Silent_p.A596A|AKNA_uc004biu.1_Silent_p.A456A|AKNA_uc004biv.1_Silent_p.A715A	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	715					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---	capture		Silent	SNP	117122322	117122322	466	9	G	T	T	39	39	AKNA	T	1	1
TNC	3371	broad.mit.edu	37	9	117826977	117826977	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117826977C>A	uc004bjj.3	-	11	3798	c.3436G>T	c.(3436-3438)GGG>TGG	p.G1146W	TNC_uc010mvf.2_Missense_Mutation_p.G1146W	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1146	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	117826977	117826977	16811	9	C	A	A	21	21	TNC	A	2	2
TNC	3371	broad.mit.edu	37	9	117846604	117846604	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117846604C>A	uc004bjj.3	-	4	2377	c.2015G>T	c.(2014-2016)GGG>GTG	p.G672V	TNC_uc010mvf.2_Missense_Mutation_p.G672V	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	672	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	117846604	117846604	16811	9	C	A	A	22	22	TNC	A	2	2
CDK5RAP2	55755	broad.mit.edu	37	9	123220895	123220895	+	Missense_Mutation	SNP	C	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123220895C>G	uc004bkf.2	-	20	2389	c.2208G>C	c.(2206-2208)ATG>ATC	p.M736I	CDK5RAP2_uc004bke.2_Missense_Mutation_p.M21I|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.M736I|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.M1I|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.M1I|CDK5RAP2_uc011lya.1_Missense_Mutation_p.M1I|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.2_Missense_Mutation_p.M503I	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	736					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	123220895	123220895	3275	9	C	G	G	29	29	CDK5RAP2	G	3	3
PHF19	26147	broad.mit.edu	37	9	123636960	123636960	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123636960G>T	uc004bks.1	-	2	313	c.60C>A	c.(58-60)CTC>CTA	p.L20L	PHF19_uc004bkt.2_Silent_p.L20L|PHF19_uc010mvk.2_Silent_p.L20L	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	PHD finger protein 19 isoform a	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Silent	SNP	123636960	123636960	12252	9	G	T	T	41	41	PHF19	T	2	2
TTC16	158248	broad.mit.edu	37	9	130489368	130489368	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130489368C>A	uc004brq.1	+	11	1612	c.1545C>A	c.(1543-1545)GCC>GCA	p.A515A	PTRH1_uc011mah.1_5'Flank|TTC16_uc011mai.1_Silent_p.A502A|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_Silent_p.A111A	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	515							binding				0																		---	---	---	---	capture		Silent	SNP	130489368	130489368	17237	9	C	A	A	23	23	TTC16	A	1	1
SLC25A25	114789	broad.mit.edu	37	9	130869708	130869708	+	Silent	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130869708C>A	uc004bte.2	+	10	1424	c.1395C>A	c.(1393-1395)GGC>GGA	p.G465G	SLC25A25_uc004btb.2_Silent_p.G499G|SLC25A25_uc004btc.2_Silent_p.G485G|SLC25A25_uc004btd.2_Silent_p.G497G|SLC25A25_uc004btf.2_Silent_p.G362G	NM_052901	NP_443133	Q6KCM7	SCMC2_HUMAN	solute carrier family 25, member 25 isoform a	465	Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding				0																		---	---	---	---	capture		Silent	SNP	130869708	130869708	14985	9	C	A	A	27	27	SLC25A25	A	1	1
GOLGA2	2801	broad.mit.edu	37	9	131021485	131021485	+	Silent	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131021485C>T	uc011maw.1	-	19	1990	c.1977G>A	c.(1975-1977)GCG>GCA	p.A659A	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_Silent_p.A132A	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	659	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	131021485	131021485	6821	9	C	T	T	23	23	GOLGA2	T	1	1
NUP188	23511	broad.mit.edu	37	9	131742903	131742903	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131742903G>T	uc004bws.1	+	14	1310	c.1288G>T	c.(1288-1290)GGG>TGG	p.G430W		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	430					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	131742903	131742903	11163	9	G	T	T	47	47	NUP188	T	2	2
PRRX2	51450	broad.mit.edu	37	9	132484622	132484622	+	Silent	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132484622G>T	uc004byh.2	+	4	980	c.753G>T	c.(751-753)ACG>ACT	p.T251T		NM_016307	NP_057391	Q99811	PRRX2_HUMAN	paired related homeobox 2	251						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1		Ovarian(14;0.00556)																---	---	---	---	capture		Silent	SNP	132484622	132484622	13063	9	G	T	T	39	39	PRRX2	T	1	1
OBP2A	29991	broad.mit.edu	37	9	138439740	138439740	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138439740C>A	uc004cgb.2	+	4	343	c.301C>A	c.(301-303)CTG>ATG	p.L101M	OBP2A_uc004cgc.2_Missense_Mutation_p.L101M|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Missense_Mutation_p.P56H	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN	odorant binding protein 2A precursor	101					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)														---	---	---	---	capture		Missense_Mutation	SNP	138439740	138439740	11215	9	C	A	A	24	24	OBP2A	A	2	2
NOTCH1	4851	broad.mit.edu	37	9	139402784	139402784	+	Nonsense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139402784C>T	uc004chz.2	-	20	3225	c.3225G>A	c.(3223-3225)TGG>TGA	p.W1075*	NOTCH1_uc004cia.1_Nonsense_Mutation_p.W305*	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1075	Extracellular (Potential).|EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)				T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			---	---	---	---	capture		Nonsense_Mutation	SNP	139402784	139402784	10950	9	C	T	T	26	26	NOTCH1	T	5	2
GLRA2	2742	broad.mit.edu	37	X	14708972	14708972	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14708972G>T	uc010nep.2	+	9	1403	c.1071G>T	c.(1069-1071)AGG>AGT	p.R357S	GLRA2_uc010neq.2_Missense_Mutation_p.R357S|GLRA2_uc004cwe.3_Missense_Mutation_p.R357S|GLRA2_uc011mio.1_Missense_Mutation_p.R268S|GLRA2_uc011mip.1_Missense_Mutation_p.R335S	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	357	Cytoplasmic (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)													---	---	---	---	capture		Missense_Mutation	SNP	14708972	14708972	6723	23	G	T	T	42	42	GLRA2	T	2	2
CNKSR2	22866	broad.mit.edu	37	X	21545097	21545097	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21545097C>A	uc004czx.1	+	10	1106	c.1070C>A	c.(1069-1071)CCT>CAT	p.P357H	CNKSR2_uc004czw.2_Missense_Mutation_p.P357H|CNKSR2_uc011mjn.1_Missense_Mutation_p.P308H|CNKSR2_uc011mjo.1_Missense_Mutation_p.P357H|CNKSR2_uc004czy.2_Translation_Start_Site	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	357	Poly-Pro.|DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	21545097	21545097	3745	23	C	A	A	24	24	CNKSR2	A	2	2
CNKSR2	22866	broad.mit.edu	37	X	21609254	21609254	+	Missense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21609254G>T	uc004czx.1	+	15	1808	c.1772G>T	c.(1771-1773)TGG>TTG	p.W591L	CNKSR2_uc004czw.2_Missense_Mutation_p.W591L|CNKSR2_uc011mjn.1_Missense_Mutation_p.W542L|CNKSR2_uc011mjo.1_Missense_Mutation_p.W561L|CNKSR2_uc004czy.2_Missense_Mutation_p.W183L	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras	591	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	21609254	21609254	3745	23	G	T	T	47	47	CNKSR2	T	2	2
MAGEB4	4115	broad.mit.edu	37	X	30260360	30260360	+	Silent	SNP	A	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30260360A>G	uc004dcb.2	+	1	192	c.108A>G	c.(106-108)GAA>GAG	p.E36E	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	36										ovary(1)	1																		---	---	---	---	capture		Silent	SNP	30260360	30260360	9559	23	A	G	G	3	3	MAGEB4	G	4	4
FAM47C	442444	broad.mit.edu	37	X	37027451	37027451	+	Missense_Mutation	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37027451C>T	uc004ddl.1	+	1	982	c.968C>T	c.(967-969)TCT>TTT	p.S323F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	323										ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	37027451	37027451	5792	23	C	T	T	32	32	FAM47C	T	2	2
FAM47C	442444	broad.mit.edu	37	X	37028697	37028697	+	Silent	SNP	C	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37028697C>T	uc004ddl.1	+	1	2228	c.2214C>T	c.(2212-2214)CTC>CTT	p.L738L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	738										ovary(3)	3																		---	---	---	---	capture		Silent	SNP	37028697	37028697	5792	23	C	T	T	30	30	FAM47C	T	2	2
KDM6A	7403	broad.mit.edu	37	X	44929602	44929602	+	Missense_Mutation	SNP	G	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:44929602G>A	uc004dge.3	+	17	3077	c.2702G>A	c.(2701-2703)AGG>AAG	p.R901K	KDM6A_uc010nhk.2_Missense_Mutation_p.R867K|KDM6A_uc011mkz.1_Missense_Mutation_p.R953K|KDM6A_uc011mla.1_Missense_Mutation_p.R856K|KDM6A_uc011mlb.1_Missense_Mutation_p.R908K|KDM6A_uc011mlc.1_Missense_Mutation_p.R605K|KDM6A_uc011mld.1_Missense_Mutation_p.R540K	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	901					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84								D|N|F|S		renal|oesophageal SCC|MM								---	---	---	---	capture		Missense_Mutation	SNP	44929602	44929602	8443	23	G	A	A	35	35	KDM6A	A	2	2
ZNF81	347344	broad.mit.edu	37	X	47774986	47774986	+	Missense_Mutation	SNP	A	G	G			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47774986A>G	uc010nhy.1	+	6	1309	c.941A>G	c.(940-942)AAG>AGG	p.K314R		NM_007137	NP_009068	P51508	ZNF81_HUMAN	zinc finger protein 81	314						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(315;0.0973)																---	---	---	---	capture		Missense_Mutation	SNP	47774986	47774986	18772	23	A	G	G	3	3	ZNF81	G	4	4
PCDH11X	27328	broad.mit.edu	37	X	91090613	91090613	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:91090613A>T	uc004efk.1	+	1	955	c.110A>T	c.(109-111)AAC>ATC	p.N37I	PCDH11X_uc004efl.1_Missense_Mutation_p.N37I|PCDH11X_uc004efo.1_Missense_Mutation_p.N37I|PCDH11X_uc010nmv.1_Missense_Mutation_p.N37I|PCDH11X_uc004efm.1_Missense_Mutation_p.N37I|PCDH11X_uc004efn.1_Missense_Mutation_p.N37I|PCDH11X_uc004efh.1_Missense_Mutation_p.N37I|PCDH11X_uc004efj.1_Missense_Mutation_p.N37I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	37	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	91090613	91090613	11928	23	A	T	T	2	2	PCDH11X	T	4	4
ARMCX1	51309	broad.mit.edu	37	X	100808631	100808631	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100808631C>A	uc004ehv.2	+	4	1089	c.718C>A	c.(718-720)CAG>AAG	p.Q240K	ARMCX1_uc004ehw.2_Missense_Mutation_p.Q240K	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	240	ARM 2.					integral to membrane	binding			ovary(3)|pancreas(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	100808631	100808631	977	23	C	A	A	21	21	ARMCX1	A	2	2
TEX13A	56157	broad.mit.edu	37	X	104464313	104464313	+	Nonsense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:104464313C>A	uc004ema.2	-	3	677	c.565G>T	c.(565-567)GGA>TGA	p.G189*	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Nonsense_Mutation_p.G189*	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	189						intracellular	zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	104464313	104464313	16303	23	C	A	A	21	21	TEX13A	A	5	2
GLUD2	2747	broad.mit.edu	37	X	120182460	120182460	+	Nonsense_Mutation	SNP	G	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:120182460G>T	uc004eto.2	+	1	999	c.922G>T	c.(922-924)GGA>TGA	p.G308*		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	308					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---	capture		Nonsense_Mutation	SNP	120182460	120182460	6745	23	G	T	T	43	43	GLUD2	T	5	2
ODZ1	10178	broad.mit.edu	37	X	124097479	124097479	+	Missense_Mutation	SNP	A	T	T			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:124097479A>T	uc004euj.2	-	1	188	c.124T>A	c.(124-126)TCC>ACC	p.S42T	ODZ1_uc011muj.1_Missense_Mutation_p.S42T|ODZ1_uc010nqy.2_Missense_Mutation_p.S42T	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	42	Teneurin N-terminal.|Cytoplasmic (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---	capture		Missense_Mutation	SNP	124097479	124097479	11239	23	A	T	T	11	11	ODZ1	T	4	4
USP26	83844	broad.mit.edu	37	X	132162097	132162097	+	Missense_Mutation	SNP	C	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:132162097C>A	uc010nrm.1	-	6	622	c.152G>T	c.(151-153)CGG>CTG	p.R51L	USP26_uc011mvf.1_Missense_Mutation_p.R51L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	ubiquitin-specific protease 26	51					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Missense_Mutation	SNP	132162097	132162097	17620	23	C	A	A	23	23	USP26	A	1	1
PASD1	139135	broad.mit.edu	37	X	150790039	150790039	+	Silent	SNP	T	A	A			TCGA-66-2795-01	TCGA-66-2795-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150790039T>A	uc004fev.3	+	6	725	c.393T>A	c.(391-393)ATT>ATA	p.I131I		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	131						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Silent	SNP	150790039	150790039	11888	23	T	A	A	63	63	PASD1	A	4	4
