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
OR2W5	441932	broad.mit.edu	37	1	247655048	247655049	+	Missense_Mutation	DNP	CC	AA	AA	rs141044958		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247655048_247655049CC>AA	uc001icz.1	+	1	619_620	c.619_620CC>AA	c.(619-621)CCT>AAT	p.P207N		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)															---	---	---	---	capture		Missense_Mutation	DNP	247655048	247655049	11440	1	CC	AA	AA	30	30	OR2W5	AA	2	2
N4BP2	55728	broad.mit.edu	37	4	40121557	40121558	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40121557_40121558GA>TT	uc003guy.3	+	9	2164_2165	c.1826_1827GA>TT	c.(1825-1827)AGA>ATT	p.R609I	N4BP2_uc010ifq.2_Missense_Mutation_p.R529I|N4BP2_uc010ifr.2_Missense_Mutation_p.R529I	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	609						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8																		---	---	---	---	capture		Missense_Mutation	DNP	40121557	40121558	10505	4	GA	TT	TT	33	33	N4BP2	TT	2	2
ZNF41	7592	broad.mit.edu	37	X	47308087	47308088	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47308087_47308088CC>AA	uc004dhs.3	-	4	1274_1275	c.1207_1208GG>TT	c.(1207-1209)GGA>TTA	p.G403L	ZNF41_uc004dhu.3_Missense_Mutation_p.G395L|ZNF41_uc004dht.3_Missense_Mutation_p.G275L|ZNF41_uc004dhv.3_Missense_Mutation_p.G371L|ZNF41_uc004dhw.3_Missense_Mutation_p.G363L|ZNF41_uc004dhy.3_Missense_Mutation_p.G361L|ZNF41_uc004dhx.3_Missense_Mutation_p.G361L|ZNF41_uc011mlm.1_Missense_Mutation_p.G275L	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	403	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)																---	---	---	---	capture		Missense_Mutation	DNP	47308087	47308088	18482	23	CC	AA	AA	30	30	ZNF41	AA	2	2
PHTF1	10745	broad.mit.edu	37	1	114242392	114242393	+	Frame_Shift_Ins	INS	-	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114242392_114242393insT	uc009wgp.1	-	16	2527_2528	c.2075_2076insA	c.(2074-2076)AAGfs	p.K692fs	PHTF1_uc001edm.2_Frame_Shift_Ins_p.K449fs	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	692						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---	capture_indel		Frame_Shift_Ins	INS	114242392	114242393	12286	1	-	T	T	28	28	PHTF1	T	5	5
TGIF1	7050	broad.mit.edu	37	18	3452223	3452223	+	Frame_Shift_Del	DEL	T	-	-	rs11571510		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3452223delT	uc002klz.2	+	1	633	c.246delT	c.(244-246)CCTfs	p.P82fs	TGIF1_uc002klu.2_Intron|TGIF1_uc002klv.2_Intron|TGIF1_uc002klx.2_Intron|TGIF1_uc002klw.2_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.2_Intron|TGIF1_uc002kma.2_Intron|TGIF1_uc002kmb.2_5'Flank	NM_170695	NP_733796	Q15583	TGIF1_HUMAN	TG-interacting factor isoform a	82					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)																---	---	---	---	capture_indel		Frame_Shift_Del	DEL	3452223	3452223	16353	18	T	-	-	54	54	TGIF1	-	5	5
A1BG	1	broad.mit.edu	37	19	58861774	58861774	+	Frame_Shift_Del	DEL	C	-	-			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58861774delC	uc002qsd.3	-	6	1216	c.1154delG	c.(1153-1155)GGCfs	p.G385fs	NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_5'Flank	NM_130786	NP_570602	P04217	A1BG_HUMAN	alpha 1B-glycoprotein precursor	385	Ig-like V-type 4.					extracellular region					0		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	58861774	58861774	1	19	C	-	-	26	26	A1BG	-	5	5
ANKRD36	375248	broad.mit.edu	37	2	97823873	97823873	+	Frame_Shift_Del	DEL	A	-	-			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97823873delA	uc010yva.1	+	16	1534	c.1290delA	c.(1288-1290)AGAfs	p.R430fs	ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_Frame_Shift_Del_p.R149fs|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_RNA	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	430											0																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	97823873	97823873	673	2	A	-	-	9	9	ANKRD36	-	5	5
AGRN	375790	broad.mit.edu	37	1	957793	957793	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:957793C>T	uc001ack.1	+	2	464	c.414C>T	c.(412-414)CTC>CTT	p.L138L		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	138	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)														---	---	---	---	capture		Silent	SNP	957793	957793	400	1	C	T	T	29	29	AGRN	T	2	2
AGRN	375790	broad.mit.edu	37	1	981368	981368	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:981368C>T	uc001ack.1	+	16	2755	c.2705C>T	c.(2704-2706)GCG>GTG	p.A902V		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	902					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)														---	---	---	---	capture		Missense_Mutation	SNP	981368	981368	400	1	C	T	T	27	27	AGRN	T	1	1
GLTPD1	80772	broad.mit.edu	37	1	1263143	1263143	+	Nonstop_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1263143G>C	uc001aeo.2	+	3	1060	c.645G>C	c.(643-645)TAG>TAC	p.*215Y		NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	215						cytoplasm	glycolipid binding|glycolipid transporter activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)														---	---	---	---	capture		Nonstop_Mutation	SNP	1263143	1263143	6740	1	G	C	C	35	35	GLTPD1	C	5	3
ACTRT2	140625	broad.mit.edu	37	1	2939345	2939345	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2939345G>T	uc001ajz.2	+	1	1300	c.1095G>T	c.(1093-1095)AAG>AAT	p.K365N		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	actin-related protein M2	365						cytoplasm|cytoskeleton					0	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)														---	---	---	---	capture		Missense_Mutation	SNP	2939345	2939345	220	1	G	T	T	35	35	ACTRT2	T	2	2
CASP9	842	broad.mit.edu	37	1	15844888	15844888	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15844888C>A	uc001awn.2	-	2	230	c.135G>T	c.(133-135)CGG>CGT	p.R45R	CASP9_uc001awm.1_Silent_p.R45R|CASP9_uc001awo.2_Silent_p.R45R|CASP9_uc001awp.2_5'UTR|CASP9_uc009voi.2_5'UTR|CASP9_uc010obm.1_5'UTR|CASP9_uc001awq.2_5'UTR	NM_001229	NP_001220	P55211	CASP9_HUMAN	caspase 9 isoform alpha preproprotein	45	CARD.				activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(1)|kidney(1)	2		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)														---	---	---	---	capture		Silent	SNP	15844888	15844888	2798	1	C	A	A	22	22	CASP9	A	2	2
KLHDC7A	127707	broad.mit.edu	37	1	18808683	18808683	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:18808683G>T	uc001bax.2	+	1	1260	c.1208G>T	c.(1207-1209)CGG>CTG	p.R403L	KLHDC7A_uc009vpg.2_Missense_Mutation_p.R185L	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	403						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	18808683	18808683	8672	1	G	T	T	39	39	KLHDC7A	T	1	1
DCDC2B	149069	broad.mit.edu	37	1	32678369	32678369	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32678369C>A	uc001bun.2	+	6	689	c.689C>A	c.(688-690)TCG>TAG	p.S230*		NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	230					intracellular signal transduction						0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)																---	---	---	---	capture		Nonsense_Mutation	SNP	32678369	32678369	4457	1	C	A	A	31	31	DCDC2B	A	5	1
DLGAP3	58512	broad.mit.edu	37	1	35332751	35332751	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35332751C>T	uc001byc.2	-	9	2619	c.2619G>A	c.(2617-2619)GCG>GCA	p.A873A		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	873					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)														OREG0013353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	35332751	35332751	4741	1	C	T	T	23	23	DLGAP3	T	1	1
SMAP2	64744	broad.mit.edu	37	1	40874374	40874374	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40874374A>G	uc001cfj.2	+	3	352	c.287A>G	c.(286-288)TAT>TGT	p.Y96C	SMAP2_uc010ojh.1_Missense_Mutation_p.Y96C|SMAP2_uc001cfk.2_Missense_Mutation_p.Y66C|SMAP2_uc010oji.1_Missense_Mutation_p.Y13C	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	96	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)															---	---	---	---	capture		Missense_Mutation	SNP	40874374	40874374	15265	1	A	G	G	16	16	SMAP2	G	4	4
STIL	6491	broad.mit.edu	37	1	47765602	47765602	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47765602G>A	uc001crc.1	-	6	831	c.676C>T	c.(676-678)CAA>TAA	p.Q226*	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Nonsense_Mutation_p.Q179*|STIL_uc010omo.1_Nonsense_Mutation_p.Q226*|STIL_uc001crd.1_Nonsense_Mutation_p.Q226*|STIL_uc001cre.1_Nonsense_Mutation_p.Q226*|STIL_uc001crg.1_Nonsense_Mutation_p.Q179*	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	226					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)																---	---	---	---	capture		Nonsense_Mutation	SNP	47765602	47765602	15802	1	G	A	A	45	45	STIL	A	5	2
DNTTIP2	30836	broad.mit.edu	37	1	94343061	94343061	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94343061C>G	uc001dqf.2	-	2	468	c.430G>C	c.(430-432)GAA>CAA	p.E144Q	DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Intron	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal,	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)														---	---	---	---	capture		Missense_Mutation	SNP	94343061	94343061	4865	1	C	G	G	32	32	DNTTIP2	G	3	3
AMIGO1	57463	broad.mit.edu	37	1	110050333	110050333	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110050333C>A	uc001dxx.3	-	2	1584	c.1202G>T	c.(1201-1203)CGG>CTG	p.R401L		NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein precursor	401	Cytoplasmic (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)														---	---	---	---	capture		Missense_Mutation	SNP	110050333	110050333	578	1	C	A	A	23	23	AMIGO1	A	1	1
HIPK1	204851	broad.mit.edu	37	1	114483925	114483925	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114483925A>T	uc001eem.2	+	2	1081	c.920A>T	c.(919-921)AAG>ATG	p.K307M	HIPK1_uc001eel.2_Missense_Mutation_p.K307M|HIPK1_uc001een.2_Missense_Mutation_p.K307M	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	307	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	114483925	114483925	7401	1	A	T	T	3	3	HIPK1	T	4	4
SEC22B	9554	broad.mit.edu	37	1	145103915	145103915	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145103915G>A	uc001eml.1	+	2	223	c.83G>A	c.(82-84)CGG>CAG	p.R28Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	28	Longin.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	145103915	145103915	14475	1	G	A	A	39	39	SEC22B	A	1	1
FLG	2312	broad.mit.edu	37	1	152283606	152283606	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152283606C>A	uc001ezu.1	-	3	3792	c.3756G>T	c.(3754-3756)GTG>GTT	p.V1252V	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1252	Ser-rich.|Filaggrin 7.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---	capture		Silent	SNP	152283606	152283606	6160	1	C	A	A	21	21	FLG	A	2	2
FLG2	388698	broad.mit.edu	37	1	152325832	152325832	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152325832C>T	uc001ezw.3	-	3	4503	c.4430G>A	c.(4429-4431)AGA>AAA	p.R1477K	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1477	Filaggrin 5.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---	capture		Missense_Mutation	SNP	152325832	152325832	6161	1	C	T	T	32	32	FLG2	T	2	2
ASH1L	55870	broad.mit.edu	37	1	155319173	155319173	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155319173T>C	uc009wqq.2	-	19	7994	c.7514A>G	c.(7513-7515)TAT>TGT	p.Y2505C	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.Y2500C|MIR555_hsa-mir-555|MI0003561_5'Flank	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2505	Bromo.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---	capture		Missense_Mutation	SNP	155319173	155319173	1060	1	T	C	C	49	49	ASH1L	C	4	4
ASH1L	55870	broad.mit.edu	37	1	155408137	155408137	+	Missense_Mutation	SNP	C	T	T	rs142217207		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155408137C>T	uc009wqq.2	-	5	6289	c.5809G>A	c.(5809-5811)GAG>AAG	p.E1937K	ASH1L_uc001fkt.2_Missense_Mutation_p.E1937K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1937					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---	capture		Missense_Mutation	SNP	155408137	155408137	1060	1	C	T	T	32	32	ASH1L	T	2	2
FCRL5	83416	broad.mit.edu	37	1	157490979	157490979	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157490979C>T	uc001fqu.2	-	11	2501	c.2343G>A	c.(2341-2343)CTG>CTA	p.L781L	FCRL5_uc009wsm.2_Silent_p.L781L	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	781	Extracellular (Potential).|Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)																---	---	---	---	capture		Silent	SNP	157490979	157490979	6035	1	C	T	T	29	29	FCRL5	T	2	2
OR10X1	128367	broad.mit.edu	37	1	158549012	158549012	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158549012G>T	uc010pin.1	-	1	678	c.678C>A	c.(676-678)ACC>ACA	p.T226T		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X,	226	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)																	---	---	---	---	capture		Silent	SNP	158549012	158549012	11328	1	G	T	T	43	43	OR10X1	T	2	2
MAEL	84944	broad.mit.edu	37	1	166962035	166962035	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166962035C>A	uc001gdy.1	+	4	509	c.438C>A	c.(436-438)CTC>CTA	p.L146L	MAEL_uc001gdz.1_Silent_p.L115L|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	146					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	166962035	166962035	9531	1	C	A	A	30	30	MAEL	A	2	2
TDRD5	163589	broad.mit.edu	37	1	179609118	179609118	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179609118A>T	uc001gnf.1	+	10	1915	c.1665A>T	c.(1663-1665)GAA>GAT	p.E555D	TDRD5_uc010pnp.1_Missense_Mutation_p.E555D|TDRD5_uc001gnh.1_Missense_Mutation_p.E110D	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	555	Tudor.				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		Missense_Mutation	SNP	179609118	179609118	16260	1	A	T	T	3	3	TDRD5	T	4	4
RGL1	23179	broad.mit.edu	37	1	183885717	183885717	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183885717C>T	uc001gqo.2	+	16	2043	c.1886C>T	c.(1885-1887)TCG>TTG	p.S629L	RGL1_uc001gqm.2_Missense_Mutation_p.S664L|RGL1_uc010pog.1_Missense_Mutation_p.S627L|RGL1_uc010poh.1_Missense_Mutation_p.S627L|RGL1_uc010poi.1_Missense_Mutation_p.S600L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	629					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11																		---	---	---	---	capture		Missense_Mutation	SNP	183885717	183885717	13749	1	C	T	T	31	31	RGL1	T	1	1
HMCN1	83872	broad.mit.edu	37	1	185959424	185959424	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185959424G>T	uc001grq.1	+	22	3455	c.3226G>T	c.(3226-3228)GGA>TGA	p.G1076*	HMCN1_uc001grr.1_Nonsense_Mutation_p.G417*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1076	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---	capture		Nonsense_Mutation	SNP	185959424	185959424	7511	1	G	T	T	47	47	HMCN1	T	5	2
PIK3C2B	5287	broad.mit.edu	37	1	204396851	204396851	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204396851C>A	uc001haw.2	-	32	4991	c.4512G>T	c.(4510-4512)GTG>GTT	p.V1504V	PIK3C2B_uc010pqv.1_Silent_p.V1476V	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1504					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)															---	---	---	---	capture		Silent	SNP	204396851	204396851	12334	1	C	A	A	21	21	PIK3C2B	A	2	2
TATDN3	128387	broad.mit.edu	37	1	212965318	212965318	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212965318G>C	uc001hjo.2	+	1	149	c.55G>C	c.(55-57)GAC>CAC	p.D19H	NSL1_uc001hjm.2_5'Flank|NSL1_uc001hjn.2_5'Flank|NSL1_uc010pti.1_5'Flank|TATDN3_uc010ptj.1_Missense_Mutation_p.D19H|TATDN3_uc010ptk.1_Missense_Mutation_p.D19H|TATDN3_uc001hjp.2_Missense_Mutation_p.D19H|TATDN3_uc010ptl.1_Missense_Mutation_p.D19H	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3 isoform 1	19						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)														---	---	---	---	capture		Missense_Mutation	SNP	212965318	212965318	16115	1	G	C	C	41	41	TATDN3	C	3	3
PTPN14	5784	broad.mit.edu	37	1	214551397	214551397	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214551397G>T	uc001hkk.1	-	14	2864	c.2593C>A	c.(2593-2595)CTG>ATG	p.L865M	PTPN14_uc010pty.1_Missense_Mutation_p.L766M	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	865					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)														---	---	---	---	capture		Missense_Mutation	SNP	214551397	214551397	13238	1	G	T	T	34	34	PTPN14	T	2	2
USH2A	7399	broad.mit.edu	37	1	215963407	215963407	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215963407C>A	uc001hku.1	-	51	10563	c.10176G>T	c.(10174-10176)ATG>ATT	p.M3392I		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3392	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)			---	---	---	---	capture		Missense_Mutation	SNP	215963407	215963407	17598	1	C	A	A	29	29	USH2A	A	2	2
USH2A	7399	broad.mit.edu	37	1	216062110	216062110	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216062110G>C	uc001hku.1	-	41	8268	c.7881C>G	c.(7879-7881)ATC>ATG	p.I2627M		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2627	Extracellular (Potential).|Fibronectin type-III 13.				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)			---	---	---	---	capture		Missense_Mutation	SNP	216062110	216062110	17598	1	G	C	C	41	41	USH2A	C	3	3
URB2	9816	broad.mit.edu	37	1	229771000	229771000	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229771000G>T	uc001hts.1	+	4	776	c.640G>T	c.(640-642)GGG>TGG	p.G214W	URB2_uc009xfd.1_Missense_Mutation_p.G214W	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	214						nucleolus		p.G214E(1)		central_nervous_system(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	229771000	229771000	17587	1	G	T	T	47	47	URB2	T	2	2
RYR2	6262	broad.mit.edu	37	1	237837447	237837447	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237837447A>G	uc001hyl.1	+	59	8762	c.8642A>G	c.(8641-8643)GAG>GGG	p.E2881G	RYR2_uc010pxz.1_5'Flank	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2881	Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|Calmodulin-binding (Potential).|4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---	capture		Missense_Mutation	SNP	237837447	237837447	14249	1	A	G	G	11	11	RYR2	G	4	4
IPMK	253430	broad.mit.edu	37	10	59956140	59956140	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:59956140C>G	uc001jkb.2	-	6	1271	c.948G>C	c.(946-948)AAG>AAC	p.K316N		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	316						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	59956140	59956140	8093	10	C	G	G	32	32	IPMK	G	3	3
CCAR1	55749	broad.mit.edu	37	10	70513624	70513624	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70513624G>C	uc001joo.2	+	11	1253	c.1134G>C	c.(1132-1134)ATG>ATC	p.M378I	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.M183I|CCAR1_uc009xpx.1_Missense_Mutation_p.M352I|CCAR1_uc001jon.1_Missense_Mutation_p.M324I|CCAR1_uc010qiz.1_Missense_Mutation_p.M363I|CCAR1_uc010qja.1_Missense_Mutation_p.M363I|CCAR1_uc010qjb.1_RNA|SNORD98_uc001jop.1_5'Flank	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	378					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	70513624	70513624	2850	10	G	C	C	45	45	CCAR1	C	3	3
KIAA1279	26128	broad.mit.edu	37	10	70775423	70775423	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70775423G>A	uc001joy.2	+	7	1213	c.1117G>A	c.(1117-1119)GCC>ACC	p.A373T		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	KIF1 binding protein	373					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	70775423	70775423	8530	10	G	A	A	46	46	KIAA1279	A	2	2
MMRN2	79812	broad.mit.edu	37	10	88703344	88703344	+	Silent	SNP	C	T	T	rs140752811		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88703344C>T	uc001kea.2	-	6	1324	c.1197G>A	c.(1195-1197)GAG>GAA	p.E399E	MMRN2_uc010qmn.1_Silent_p.E42E|MMRN2_uc009xtb.2_Silent_p.E356E	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	399	Potential.					extracellular space				large_intestine(1)	1																		---	---	---	---	capture		Silent	SNP	88703344	88703344	10062	10	C	T	T	24	24	MMRN2	T	2	2
PIK3AP1	118788	broad.mit.edu	37	10	98469674	98469674	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98469674A>T	uc001kmq.2	-	2	208	c.80T>A	c.(79-81)CTG>CAG	p.L27Q		NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	27						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)														---	---	---	---	capture		Missense_Mutation	SNP	98469674	98469674	12332	10	A	T	T	7	7	PIK3AP1	T	4	4
COX15	1355	broad.mit.edu	37	10	101478160	101478160	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101478160G>T	uc001kqb.3	-	7	1547	c.930C>A	c.(928-930)CCC>CCA	p.P310P	COX15_uc001kqc.3_Silent_p.P310P|COX15_uc010qpj.1_Silent_p.P131P	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	310					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)														---	---	---	---	capture		Silent	SNP	101478160	101478160	3902	10	G	T	T	47	47	COX15	T	2	2
GBF1	8729	broad.mit.edu	37	10	104129063	104129063	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104129063C>A	uc001kux.1	+	24	3306	c.3066C>A	c.(3064-3066)ATC>ATA	p.I1022I	GBF1_uc001kuy.1_Silent_p.I1022I|GBF1_uc001kuz.1_Silent_p.I1023I	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1022					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)														---	---	---	---	capture		Silent	SNP	104129063	104129063	6537	10	C	A	A	30	30	GBF1	A	2	2
SORCS1	114815	broad.mit.edu	37	10	108923900	108923900	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:108923900G>T	uc001kym.2	-	1	393	c.385C>A	c.(385-387)CGG>AGG	p.R129R	SORCS1_uc001kyl.2_Silent_p.R129R|SORCS1_uc009xxs.2_Silent_p.R129R|SORCS1_uc001kyn.1_Silent_p.R129R|SORCS1_uc001kyo.2_Silent_p.R129R	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	129	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)														---	---	---	---	capture		Silent	SNP	108923900	108923900	15430	10	G	T	T	39	39	SORCS1	T	1	1
GRK5	2869	broad.mit.edu	37	10	121189946	121189946	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:121189946G>T	uc001led.2	+	7	826	c.593G>T	c.(592-594)GGG>GTG	p.G198V	GRK5_uc009xzh.2_Missense_Mutation_p.G93V|GRK5_uc010qta.1_Missense_Mutation_p.G93V	NM_005308	NP_005299	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	198	Protein kinase.|ATP (By similarity).				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			lung(2)|stomach(1)	3		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)														---	---	---	---	capture		Missense_Mutation	SNP	121189946	121189946	7071	10	G	T	T	43	43	GRK5	T	2	2
C10orf88	80007	broad.mit.edu	37	10	124712423	124712423	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124712423C>G	uc001lgw.2	-	2	515	c.290G>C	c.(289-291)AGA>ACA	p.R97T	C10orf88_uc001lgx.2_5'UTR	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	hypothetical protein LOC80007	97											0		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)														---	---	---	---	capture		Missense_Mutation	SNP	124712423	124712423	1659	10	C	G	G	32	32	C10orf88	G	3	3
BUB3	9184	broad.mit.edu	37	10	124915190	124915190	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124915190G>T	uc001lhe.2	+	3	454	c.212G>T	c.(211-213)TGG>TTG	p.W71L	BUB3_uc009yah.2_Missense_Mutation_p.W23L|BUB3_uc001lhf.3_Missense_Mutation_p.W71L|BUB3_uc001lhd.2_Missense_Mutation_p.W71L|BUB3_uc010qud.1_5'UTR	NM_004725	NP_004716	O43684	BUB3_HUMAN	budding uninhibited by benzimidazoles 3 isoform	71	WD 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			ovary(1)	1		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)																---	---	---	---	capture		Missense_Mutation	SNP	124915190	124915190	1606	10	G	T	T	47	47	BUB3	T	2	2
MKI67	4288	broad.mit.edu	37	10	129903515	129903515	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129903515A>C	uc001lke.2	-	13	6784	c.6589T>G	c.(6589-6591)TTG>GTG	p.L2197V	MKI67_uc001lkf.2_Missense_Mutation_p.L1837V|MKI67_uc009yav.1_Missense_Mutation_p.L1772V|MKI67_uc009yaw.1_Missense_Mutation_p.L1347V	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2197	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	129903515	129903515	9988	10	A	C	C	3	3	MKI67	C	4	4
PHRF1	57661	broad.mit.edu	37	11	611692	611692	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:611692C>G	uc001lqe.2	+	18	4996	c.4865C>G	c.(4864-4866)GCG>GGG	p.A1622G	PHRF1_uc010qwc.1_Missense_Mutation_p.A1621G|PHRF1_uc010qwd.1_Missense_Mutation_p.A1620G|PHRF1_uc010qwe.1_Missense_Mutation_p.A1618G|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1622							RNA polymerase binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	611692	611692	12285	11	C	G	G	27	27	PHRF1	G	3	3
MUC5B	727897	broad.mit.edu	37	11	1266003	1266003	+	Silent	SNP	A	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1266003A>T	uc009ycr.1	+	48	9933	c.9807A>T	c.(9805-9807)CCA>CCT	p.P3269P	MUC5B_uc001ltb.2_Silent_p.P2634P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2631	7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)														---	---	---	---	capture		Silent	SNP	1266003	1266003	10373	11	A	T	T	7	7	MUC5B	T	4	4
TOLLIP	54472	broad.mit.edu	37	11	1311618	1311618	+	Missense_Mutation	SNP	C	T	T	rs143130045		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1311618C>T	uc001lte.2	-	3	316	c.205G>A	c.(205-207)GGC>AGC	p.G69S	TOLLIP_uc001ltd.2_5'UTR|TOLLIP_uc009ycu.2_Intron|TOLLIP_uc001ltf.2_Missense_Mutation_p.G19S	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	toll interacting protein	69	C2.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding				0		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)														---	---	---	---	capture		Missense_Mutation	SNP	1311618	1311618	16891	11	C	T	T	23	23	TOLLIP	T	1	1
NUP98	4928	broad.mit.edu	37	11	3727819	3727819	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3727819C>A	uc001lyh.2	-	21	3072	c.2781G>T	c.(2779-2781)GTG>GTT	p.V927V	NUP98_uc001lyi.2_Silent_p.V927V|NUP98_uc001lyg.2_5'UTR	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	944					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)				T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								---	---	---	---	capture		Silent	SNP	3727819	3727819	11178	11	C	A	A	21	21	NUP98	A	2	2
OR51G2	81282	broad.mit.edu	37	11	4936660	4936660	+	Silent	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4936660G>A	uc001lzr.1	-	1	234	c.234C>T	c.(232-234)CTC>CTT	p.L78L		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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		Silent	SNP	4936660	4936660	11509	11	G	A	A	33	33	OR51G2	A	2	2
HBE1	3046	broad.mit.edu	37	11	5289729	5289729	+	Silent	SNP	G	C	C	rs145809569	by1000genomes	TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5289729G>C	uc001mal.1	-	3	667	c.414C>G	c.(412-414)GTC>GTG	p.V138V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.V138V	NM_005330	NP_005321	P02100	HBE_HUMAN	epsilon globin	138					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Silent	SNP	5289729	5289729	7262	11	G	C	C	37	37	HBE1	C	3	3
OR51B2	79345	broad.mit.edu	37	11	5344621	5344621	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5344621G>T	uc001mao.1	-	1	962	c.907C>A	c.(907-909)CGC>AGC	p.R303S	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	5344621	5344621	11499	11	G	T	T	39	39	OR51B2	T	1	1
OR51B2	79345	broad.mit.edu	37	11	5344990	5344990	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5344990G>T	uc001mao.1	-	1	593	c.538C>A	c.(538-540)CAA>AAA	p.Q180K	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	5344990	5344990	11499	11	G	T	T	47	47	OR51B2	T	2	2
OR51Q1	390061	broad.mit.edu	37	11	5444070	5444070	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5444070C>G	uc010qzd.1	+	1	640	c.640C>G	c.(640-642)CTG>GTG	p.L214V	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	5444070	5444070	11514	11	C	G	G	32	32	OR51Q1	G	3	3
OR52E4	390081	broad.mit.edu	37	11	5905886	5905886	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5905886T>A	uc010qzs.1	+	1	364	c.364T>A	c.(364-366)TAT>AAT	p.Y122N	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	122	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	5905886	5905886	11526	11	T	A	A	61	61	OR52E4	A	4	4
OR52E4	390081	broad.mit.edu	37	11	5906038	5906038	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5906038G>T	uc010qzs.1	+	1	516	c.516G>T	c.(514-516)GGG>GGT	p.G172G	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Silent	SNP	5906038	5906038	11526	11	G	T	T	42	42	OR52E4	T	2	2
CNGA4	1262	broad.mit.edu	37	11	6262865	6262865	+	Nonsense_Mutation	SNP	T	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6262865T>A	uc001mco.2	+	5	1229	c.1122T>A	c.(1120-1122)TAT>TAA	p.Y374*	CNGA4_uc010raa.1_Nonsense_Mutation_p.Y143*|CNGA4_uc001mcn.2_Nonsense_Mutation_p.Y334*	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	374	cNMP.|Cytoplasmic (Potential).				response to stimulus|sensory perception of smell		cAMP binding			skin(1)	1		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Nonsense_Mutation	SNP	6262865	6262865	3737	11	T	A	A	51	51	CNGA4	A	5	4
DCHS1	8642	broad.mit.edu	37	11	6643179	6643179	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6643179C>T	uc001mem.1	-	21	10138	c.9728G>A	c.(9727-9729)GGC>GAC	p.G3243D	TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	3243	Cytoplasmic (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	6643179	6643179	4458	11	C	T	T	26	26	DCHS1	T	2	2
EIF4G2	1982	broad.mit.edu	37	11	10822354	10822354	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10822354G>T	uc001mjc.2	-	16	1985	c.1568C>A	c.(1567-1569)CCA>CAA	p.P523Q	EIF4G2_uc001mjb.2_Missense_Mutation_p.P317Q|EIF4G2_uc009ygf.2_Missense_Mutation_p.P317Q|EIF4G2_uc001mjd.2_Missense_Mutation_p.P485Q	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	523					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)														---	---	---	---	capture		Missense_Mutation	SNP	10822354	10822354	5228	11	G	T	T	47	47	EIF4G2	T	2	2
USP47	55031	broad.mit.edu	37	11	11970068	11970068	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:11970068G>C	uc001mjs.2	+	22	4074	c.3311G>C	c.(3310-3312)AGA>ACA	p.R1104T	USP47_uc001mjr.2_Missense_Mutation_p.R1036T|USP47_uc009ygi.2_5'Flank	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	ubiquitin specific protease 47	1124					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			ovary(1)|skin(1)	2				Epithelial(150;0.000339)														---	---	---	---	capture		Missense_Mutation	SNP	11970068	11970068	17642	11	G	C	C	33	33	USP47	C	3	3
NELL1	4745	broad.mit.edu	37	11	20907010	20907010	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20907010A>G	uc001mqe.2	+	5	680	c.527A>G	c.(526-528)GAC>GGC	p.D176G	NELL1_uc001mqf.2_Missense_Mutation_p.D176G|NELL1_uc009yid.2_Missense_Mutation_p.D204G|NELL1_uc010rdo.1_Missense_Mutation_p.D119G|NELL1_uc010rdp.1_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	176	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	20907010	20907010	10732	11	A	G	G	10	10	NELL1	G	4	4
CAT	847	broad.mit.edu	37	11	34477609	34477609	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34477609C>A	uc001mvm.2	+	7	846	c.763C>A	c.(763-765)CAG>AAG	p.Q255K	CAT_uc009ykc.1_RNA	NM_001752	NP_001743	P04040	CATA_HUMAN	catalase	255					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			ovary(2)|pancreas(1)	3		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)													---	---	---	---	capture		Missense_Mutation	SNP	34477609	34477609	2805	11	C	A	A	21	21	CAT	A	2	2
FNBP4	23360	broad.mit.edu	37	11	47746060	47746060	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47746060G>T	uc009ylv.2	-	13	2432	c.2279C>A	c.(2278-2280)CCT>CAT	p.P760H	FNBP4_uc001ngi.2_Missense_Mutation_p.P74H|FNBP4_uc001ngj.2_Missense_Mutation_p.P667H|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	760										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	47746060	47746060	6209	11	G	T	T	35	35	FNBP4	T	2	2
OR5F1	338674	broad.mit.edu	37	11	55761502	55761502	+	Silent	SNP	A	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55761502A>T	uc010riv.1	-	1	600	c.600T>A	c.(598-600)TCT>TCA	p.S200S		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	200	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)																	---	---	---	---	capture		Silent	SNP	55761502	55761502	11568	11	A	T	T	15	15	OR5F1	T	4	4
OR5T1	390155	broad.mit.edu	37	11	56043843	56043843	+	Silent	SNP	T	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56043843T>A	uc001nio.1	+	1	729	c.729T>A	c.(727-729)GCT>GCA	p.A243A		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	243	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)																	---	---	---	---	capture		Silent	SNP	56043843	56043843	11591	11	T	A	A	55	55	OR5T1	A	4	4
ZDHHC5	25921	broad.mit.edu	37	11	57466569	57466569	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57466569C>T	uc001nkx.1	+	11	2917	c.1661C>T	c.(1660-1662)TCA>TTA	p.S554L	ZDHHC5_uc001nky.1_Missense_Mutation_p.S501L|ZDHHC5_uc001nkz.1_Missense_Mutation_p.S368L	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	554						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	57466569	57466569	18206	11	C	T	T	29	29	ZDHHC5	T	2	2
FAM111B	374393	broad.mit.edu	37	11	58893612	58893612	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58893612T>C	uc001nnl.2	+	4	2285	c.2042T>C	c.(2041-2043)ATT>ACT	p.I681T	FAM111B_uc001nnm.2_Missense_Mutation_p.I651T|FAM111B_uc010rko.1_Missense_Mutation_p.I651T	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	681							catalytic activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	58893612	58893612	5597	11	T	C	C	52	52	FAM111B	C	4	4
PATL1	219988	broad.mit.edu	37	11	59420425	59420425	+	Silent	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59420425G>C	uc001noe.3	-	10	1331	c.1188C>G	c.(1186-1188)CTC>CTG	p.L396L	PATL1_uc009yms.1_Silent_p.L366L|PATL1_uc010rkw.1_Silent_p.L101L	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	396	Region H.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	59420425	59420425	11894	11	G	C	C	41	41	PATL1	C	3	3
AHNAK	79026	broad.mit.edu	37	11	62294858	62294858	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62294858G>T	uc001ntl.2	-	5	7331	c.7031C>A	c.(7030-7032)CCA>CAA	p.P2344Q	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2344					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	62294858	62294858	417	11	G	T	T	47	47	AHNAK	T	2	2
NRXN2	9379	broad.mit.edu	37	11	64417926	64417926	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64417926G>T	uc001oar.2	-	16	3542	c.3103C>A	c.(3103-3105)CTC>ATC	p.L1035I	NRXN2_uc001oas.2_Missense_Mutation_p.L995I|NRXN2_uc001oaq.2_Missense_Mutation_p.L702I	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:Variant_position_missing_in_P58401_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	64417926	64417926	11071	11	G	T	T	33	33	NRXN2	T	2	2
LRP5	4041	broad.mit.edu	37	11	68171124	68171124	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68171124C>A	uc001ont.2	+	8	1833	c.1758C>A	c.(1756-1758)CCC>CCA	p.P586P	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	586	Beta-propeller 2.|LDL-receptor class B 10.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7																		---	---	---	---	capture		Silent	SNP	68171124	68171124	9333	11	C	A	A	23	23	LRP5	A	1	1
LRP5	4041	broad.mit.edu	37	11	68201264	68201264	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68201264G>A	uc001ont.2	+	18	4033	c.3958G>A	c.(3958-3960)GAG>AAG	p.E1320K	LRP5_uc009ysg.2_Missense_Mutation_p.E730K	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1320	LDL-receptor class A 2.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	68201264	68201264	9333	11	G	A	A	37	37	LRP5	A	1	1
NUMA1	4926	broad.mit.edu	37	11	71724063	71724063	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71724063G>A	uc001orl.1	-	15	4658	c.4486C>T	c.(4486-4488)CGA>TGA	p.R1496*	NUMA1_uc009ysw.1_Nonsense_Mutation_p.R1059*|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Nonsense_Mutation_p.R1496*|NUMA1_uc001orn.2_Nonsense_Mutation_p.R1059*|NUMA1_uc009ysx.1_Nonsense_Mutation_p.R1496*|NUMA1_uc001oro.1_Nonsense_Mutation_p.R1496*	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1496	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8								T	RARA	APL								---	---	---	---	capture		Nonsense_Mutation	SNP	71724063	71724063	11155	11	G	A	A	38	38	NUMA1	A	5	1
FAT3	120114	broad.mit.edu	37	11	92088060	92088060	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92088060G>A	uc001pdj.3	+	1	2799	c.2782G>A	c.(2782-2784)GAT>AAT	p.D928N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	928	Cadherin 8.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---	capture		Missense_Mutation	SNP	92088060	92088060	5927	11	G	A	A	45	45	FAT3	A	2	2
CWF19L2	143884	broad.mit.edu	37	11	107299540	107299540	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107299540T>C	uc010rvp.1	-	8	1448	c.1418A>G	c.(1417-1419)AAG>AGG	p.K473R	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	473							catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)														---	---	---	---	capture		Missense_Mutation	SNP	107299540	107299540	4232	11	T	C	C	56	56	CWF19L2	C	4	4
TMEM136	219902	broad.mit.edu	37	11	120198201	120198201	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120198201C>T	uc001pxh.1	+	2	114	c.51C>T	c.(49-51)CTC>CTT	p.L17L	TMEM136_uc001pxg.2_Silent_p.L39L|TMEM136_uc010rzm.1_Silent_p.L17L|TMEM136_uc001pxj.2_Silent_p.L39L|TMEM136_uc009zas.1_5'UTR|TMEM136_uc001pxi.1_Intron	NM_174926	NP_777586	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	17	Helical; (Potential).					integral to membrane		p.W17*(1)		ovary(1)	1		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)														---	---	---	---	capture		Silent	SNP	120198201	120198201	16584	11	C	T	T	32	32	TMEM136	T	2	2
ARHGEF12	23365	broad.mit.edu	37	11	120352085	120352085	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120352085C>G	uc001pxl.1	+	39	4361	c.4354C>G	c.(4354-4356)CAC>GAC	p.H1452D	ARHGEF12_uc009zau.1_Missense_Mutation_p.H1349D	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1452					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|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	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)				T	MLL	AML								---	---	---	---	capture		Missense_Mutation	SNP	120352085	120352085	911	11	C	G	G	21	21	ARHGEF12	G	3	3
SORL1	6653	broad.mit.edu	37	11	121440877	121440877	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121440877C>G	uc001pxx.2	+	23	3315	c.3235C>G	c.(3235-3237)CTT>GTT	p.L1079V		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1079	Extracellular (Potential).|LDL-receptor class A 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---	capture		Missense_Mutation	SNP	121440877	121440877	15434	11	C	G	G	32	32	SORL1	G	3	3
VWA5A	4013	broad.mit.edu	37	11	123995012	123995012	+	Silent	SNP	A	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123995012A>G	uc001pzu.2	+	11	1442	c.1233A>G	c.(1231-1233)AGA>AGG	p.R411R	VWA5A_uc001pzr.2_Silent_p.R411R|VWA5A_uc001pzs.2_Silent_p.R411R|VWA5A_uc010sae.1_Silent_p.R427R|VWA5A_uc001pzt.2_Silent_p.R411R	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN	BCSC-1 isoform 1	411	VWFA.									upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---	capture		Silent	SNP	123995012	123995012	17811	11	A	G	G	10	10	VWA5A	G	4	4
OR8A1	390275	broad.mit.edu	37	11	124440254	124440254	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124440254A>G	uc010san.1	+	1	290	c.290A>G	c.(289-291)AAG>AGG	p.K97R		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	97	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)														---	---	---	---	capture		Missense_Mutation	SNP	124440254	124440254	11636	11	A	G	G	3	3	OR8A1	G	4	4
C12orf5	57103	broad.mit.edu	37	12	4460527	4460527	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4460527G>C	uc001qmp.2	+	5	444	c.365G>C	c.(364-366)GGA>GCA	p.G122A		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	TP53-induced glycolysis and apoptosis regulator	122						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			skin(1)	1			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)															---	---	---	---	capture		Missense_Mutation	SNP	4460527	4460527	1738	12	G	C	C	41	41	C12orf5	C	3	3
ATN1	1822	broad.mit.edu	37	12	7045484	7045484	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7045484C>G	uc001qrw.1	+	5	1291	c.1054C>G	c.(1054-1056)CTG>GTG	p.L352V	ATN1_uc001qrx.1_Missense_Mutation_p.L352V|ATN1_uc001qry.1_Missense_Mutation_p.L351V	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	352					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	7045484	7045484	1130	12	C	G	G	32	32	ATN1	G	3	3
PRH2	5555	broad.mit.edu	37	12	11081919	11081919	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11081919C>A	uc009zhr.2	+	1	85	c.47C>A	c.(46-48)GCT>GAT	p.A16D	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH2_uc001qzh.2_Missense_Mutation_p.A16D|PRH2_uc001qzi.3_Missense_Mutation_p.A16D	NM_001110213	NP_001103683	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 2	16						extracellular space	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	11081919	11081919	12926	12	C	A	A	28	28	PRH2	A	2	2
TAS2R30	259293	broad.mit.edu	37	12	11286001	11286001	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11286001C>A	uc009zhs.1	-	1	843	c.843G>T	c.(841-843)TTG>TTT	p.L281F	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_001097643	NP_001091112			type 2 taste receptor member 30												0																		---	---	---	---	capture		Missense_Mutation	SNP	11286001	11286001	16095	12	C	A	A	21	21	TAS2R30	A	2	2
PRB3	5544	broad.mit.edu	37	12	11420147	11420147	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11420147G>T	uc001qzs.2	-	4	947	c.909C>A	c.(907-909)CCC>CCA	p.P303P	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	303	Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)															---	---	---	---	capture		Silent	SNP	11420147	11420147	12886	12	G	T	T	43	43	PRB3	T	2	2
LRP6	4040	broad.mit.edu	37	12	12278319	12278319	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:12278319C>T	uc001rah.3	-	21	4502	c.4360G>A	c.(4360-4362)GGA>AGA	p.G1454R	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G1409R	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	1454	Cytoplasmic (Potential).				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)																---	---	---	---	capture		Missense_Mutation	SNP	12278319	12278319	9335	12	C	T	T	22	22	LRP6	T	2	2
LRP6	4040	broad.mit.edu	37	12	12291458	12291458	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:12291458C>T	uc001rah.3	-	16	3550	c.3408G>A	c.(3406-3408)CGG>CGA	p.R1136R	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.R1136R	NM_002336	NP_002327	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein	1136	Extracellular (Potential).|LDL-receptor class B 19.|Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12		Prostate(47;0.0865)																---	---	---	---	capture		Silent	SNP	12291458	12291458	9335	12	C	T	T	30	30	LRP6	T	2	2
KCNH3	23416	broad.mit.edu	37	12	49933230	49933230	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49933230C>T	uc001ruh.1	+	1	291	c.31C>T	c.(31-33)CAG>TAG	p.Q11*	KCNH3_uc010smj.1_5'UTR	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	11	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	49933230	49933230	8338	12	C	T	T	25	25	KCNH3	T	5	2
KRT73	319101	broad.mit.edu	37	12	53012206	53012206	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53012206C>A	uc001sas.2	-	1	138	c.103G>T	c.(103-105)GGG>TGG	p.G35W		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	35	Head.|Gly-rich.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---	capture		Missense_Mutation	SNP	53012206	53012206	8801	12	C	A	A	24	24	KRT73	A	2	2
TENC1	23371	broad.mit.edu	37	12	53448097	53448097	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53448097G>C	uc001sbp.2	+	7	529	c.394G>C	c.(394-396)GAC>CAC	p.D132H	uc001sbk.1_Intron|TENC1_uc001sbl.2_Missense_Mutation_p.D8H|TENC1_uc001sbm.2_Missense_Mutation_p.D142H|TENC1_uc001sbn.2_Missense_Mutation_p.D142H|TENC1_uc001sbo.1_Missense_Mutation_p.D132H	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	132	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	53448097	53448097	16285	12	G	C	C	33	33	TENC1	C	3	3
TARBP2	6895	broad.mit.edu	37	12	53899577	53899577	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53899577C>T	uc001sdo.2	+	8	1374	c.886C>T	c.(886-888)CGT>TGT	p.R296C	TARBP2_uc001sdp.2_Missense_Mutation_p.R275C|TARBP2_uc001sdq.2_Missense_Mutation_p.R152C|TARBP2_uc001sdr.2_Missense_Mutation_p.R152C|TARBP2_uc001sds.2_Missense_Mutation_p.P253L|TARBP2_uc001sdt.2_Missense_Mutation_p.R275C|TARBP2_uc001sdu.2_Missense_Mutation_p.R152C|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	296	Sufficient for interaction with DICER1.|DRBM 3.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	53899577	53899577	16077	12	C	T	T	23	23	TARBP2	T	1	1
KIAA0748	9840	broad.mit.edu	37	12	55356381	55356381	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55356381C>G	uc001sgn.3	-	9	1411	c.1301G>C	c.(1300-1302)AGA>ACA	p.R434T	KIAA0748_uc001sgl.3_Missense_Mutation_p.R296T|KIAA0748_uc001sgm.3_Missense_Mutation_p.R181T|KIAA0748_uc010spb.1_Missense_Mutation_p.R181T|KIAA0748_uc010spc.1_Missense_Mutation_p.R296T|KIAA0748_uc010spd.1_Missense_Mutation_p.R434T|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	434										ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	55356381	55356381	8497	12	C	G	G	32	32	KIAA0748	G	3	3
GLI1	2735	broad.mit.edu	37	12	57857822	57857822	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57857822G>A	uc001snx.2	+	3	219	c.141G>A	c.(139-141)ATG>ATA	p.M47I	GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_Intron|GLI1_uc009zpr.1_Intron	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	47					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)															---	---	---	---	capture		Missense_Mutation	SNP	57857822	57857822	6705	12	G	A	A	48	48	GLI1	A	2	2
TSPAN31	6302	broad.mit.edu	37	12	58139669	58139669	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58139669A>T	uc001spt.2	+	2	359	c.205A>T	c.(205-207)AAC>TAC	p.N69Y	TSPAN31_uc009zqb.2_Intron|TSPAN31_uc010ssa.1_5'UTR	NM_005981	NP_005972	Q12999	TSN31_HUMAN	sarcoma amplified sequence	69	Cytoplasmic (Potential).				positive regulation of cell proliferation	integral to plasma membrane|membrane fraction					0	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)															---	---	---	---	capture		Missense_Mutation	SNP	58139669	58139669	17197	12	A	T	T	5	5	TSPAN31	T	4	4
PTPRR	5801	broad.mit.edu	37	12	71286540	71286540	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:71286540C>A	uc001swi.1	-	2	692	c.276G>T	c.(274-276)CCG>CCT	p.P92P		NM_002849	NP_002840	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	92	Extracellular (Potential).				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			skin(2)|ovary(1)	3			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)														---	---	---	---	capture		Silent	SNP	71286540	71286540	13268	12	C	A	A	19	19	PTPRR	A	1	1
TPH2	121278	broad.mit.edu	37	12	72338230	72338230	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72338230C>G	uc009zrw.1	+	3	553	c.412C>G	c.(412-414)CCA>GCA	p.P138A	TPH2_uc001swy.2_Missense_Mutation_p.P48A	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	138					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)													---	---	---	---	capture		Missense_Mutation	SNP	72338230	72338230	16946	12	C	G	G	30	30	TPH2	G	3	3
TRHDE	29953	broad.mit.edu	37	12	73015517	73015517	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:73015517C>A	uc001sxa.2	+	15	2556	c.2526C>A	c.(2524-2526)TCC>TCA	p.S842S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	842	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	73015517	73015517	17023	12	C	A	A	21	21	TRHDE	A	2	2
OSBPL8	114882	broad.mit.edu	37	12	76767175	76767175	+	Silent	SNP	T	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:76767175T>A	uc001sye.1	-	18	2346	c.1866A>T	c.(1864-1866)TCA>TCT	p.S622S	OSBPL8_uc001syf.1_Silent_p.S580S|OSBPL8_uc001syg.1_Silent_p.S580S|OSBPL8_uc001syh.1_Silent_p.S597S	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	622					lipid transport		lipid binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	76767175	76767175	11694	12	T	A	A	55	55	OSBPL8	A	4	4
E2F7	144455	broad.mit.edu	37	12	77417881	77417881	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:77417881C>T	uc001sym.3	-	13	2886	c.2650G>A	c.(2650-2652)GTC>ATC	p.V884I	E2F7_uc009zse.2_3'UTR	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	884					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	77417881	77417881	5058	12	C	T	T	17	17	E2F7	T	2	2
ANKS1B	56899	broad.mit.edu	37	12	99640592	99640592	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:99640592C>A	uc001tge.1	-	13	2224	c.1807G>T	c.(1807-1809)GGG>TGG	p.G603W	ANKS1B_uc001tgf.1_Missense_Mutation_p.G183W|ANKS1B_uc001tgk.2_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.G569W	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	603						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)														---	---	---	---	capture		Missense_Mutation	SNP	99640592	99640592	697	12	C	A	A	21	21	ANKS1B	A	2	2
RBM19	9904	broad.mit.edu	37	12	114386801	114386801	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114386801G>T	uc009zwi.2	-	10	1257	c.1113C>A	c.(1111-1113)CCC>CCA	p.P371P	RBM19_uc001tvn.3_Silent_p.P371P|RBM19_uc001tvm.2_Silent_p.P371P	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	371					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)																	---	---	---	---	capture		Silent	SNP	114386801	114386801	13582	12	G	T	T	47	47	RBM19	T	2	2
TBX3	6926	broad.mit.edu	37	12	115114128	115114128	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:115114128C>T	uc001tvt.1	-	6	2053	c.1089G>A	c.(1087-1089)TCG>TCA	p.S363S	TBX3_uc001tvu.1_Silent_p.S343S	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	363					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)														---	---	---	---	capture		Silent	SNP	115114128	115114128	16185	12	C	T	T	31	31	TBX3	T	1	1
TMED2	10959	broad.mit.edu	37	12	124074954	124074954	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124074954G>T	uc001ufg.2	+	3	547	c.439G>T	c.(439-441)GAA>TAA	p.E147*		NM_006815	NP_006806	Q15363	TMED2_HUMAN	coated vesicle membrane protein precursor	147	Lumenal (Potential).				protein transport|vesicle-mediated transport	COPI coated vesicle membrane|ER-Golgi intermediate compartment|integral to membrane|microsome|zymogen granule membrane	protein binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)														---	---	---	---	capture		Nonsense_Mutation	SNP	124074954	124074954	16534	12	G	T	T	37	37	TMED2	T	5	1
NCOR2	9612	broad.mit.edu	37	12	124915226	124915226	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124915226G>T	uc010tba.1	-	9	1107	c.990C>A	c.(988-990)CGC>CGA	p.R330R	NCOR2_uc010tay.1_Silent_p.R330R|NCOR2_uc010taz.1_Silent_p.R330R|NCOR2_uc010tbb.1_Silent_p.R330R|NCOR2_uc010tbc.1_Silent_p.R330R|NCOR2_uc001ugj.1_Silent_p.R330R|NCOR2_uc001ugk.1_Silent_p.R330R	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	330					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)														---	---	---	---	capture		Silent	SNP	124915226	124915226	10635	12	G	T	T	38	38	NCOR2	T	1	1
ATP7B	540	broad.mit.edu	37	13	52511767	52511767	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52511767C>A	uc001vfw.2	-	18	3905	c.3748G>T	c.(3748-3750)GCC>TCC	p.A1250S	ATP7B_uc010adv.2_Missense_Mutation_p.A820S|ATP7B_uc001vfx.2_Missense_Mutation_p.A1043S|ATP7B_uc001vfy.2_Missense_Mutation_p.A1139S|ATP7B_uc010tgt.1_Missense_Mutation_p.A1185S|ATP7B_uc010tgu.1_Missense_Mutation_p.A1202S|ATP7B_uc010tgv.1_Missense_Mutation_p.A1172S|ATP7B_uc001vfv.2_Missense_Mutation_p.A522S|ATP7B_uc010tgs.1_Missense_Mutation_p.A461S	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1250	Cytoplasmic (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)										Wilson_disease				---	---	---	---	capture		Missense_Mutation	SNP	52511767	52511767	1210	13	C	A	A	26	26	ATP7B	A	2	2
MYCBP2	23077	broad.mit.edu	37	13	77844568	77844568	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77844568T>A	uc001vkf.2	-	7	1028	c.937A>T	c.(937-939)ATG>TTG	p.M313L	MYCBP2_uc010aev.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)														---	---	---	---	capture		Missense_Mutation	SNP	77844568	77844568	10413	13	T	A	A	52	52	MYCBP2	A	4	4
ITGBL1	9358	broad.mit.edu	37	13	102220101	102220101	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:102220101G>T	uc001vpb.2	+	3	587	c.368G>T	c.(367-369)GGG>GTG	p.G123V	ITGBL1_uc010agb.2_Intron|ITGBL1_uc001vpc.3_5'UTR	NM_004791	NP_004782	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat	123	II.|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			ovary(1)|skin(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---	capture		Missense_Mutation	SNP	102220101	102220101	8206	13	G	T	T	43	43	ITGBL1	T	2	2
TPP2	7174	broad.mit.edu	37	13	103279418	103279418	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:103279418G>A	uc001vpi.3	+	7	944	c.841G>A	c.(841-843)GAA>AAA	p.E281K		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	281					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---	capture		Missense_Mutation	SNP	103279418	103279418	16956	13	G	A	A	45	45	TPP2	A	2	2
TUBGCP3	10426	broad.mit.edu	37	13	113213655	113213655	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113213655G>T	uc001vse.1	-	4	498	c.311C>A	c.(310-312)CCA>CAA	p.P104Q	TUBGCP3_uc010tjq.1_Missense_Mutation_p.P104Q|TUBGCP3_uc001vsf.2_Missense_Mutation_p.P104Q|TUBGCP3_uc001vsg.1_Missense_Mutation_p.P104Q	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	104					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)																	---	---	---	---	capture		Missense_Mutation	SNP	113213655	113213655	17322	13	G	T	T	47	47	TUBGCP3	T	2	2
RASA3	22821	broad.mit.edu	37	13	114778663	114778663	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114778663G>T	uc001vui.2	-	15	1598	c.1467C>A	c.(1465-1467)CCC>CCA	p.P489P	RASA3_uc010tkk.1_Silent_p.P457P|RASA3_uc001vuj.2_Silent_p.P106P	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	489	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	114778663	114778663	13522	13	G	T	T	39	39	RASA3	T	1	1
TEP1	7011	broad.mit.edu	37	14	20857439	20857439	+	Missense_Mutation	SNP	G	T	T	rs145088591		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20857439G>T	uc001vxe.2	-	17	2523	c.2483C>A	c.(2482-2484)CCC>CAC	p.P828H	TEP1_uc010ahk.2_Missense_Mutation_p.P178H|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.P720H	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	828					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---	capture		Missense_Mutation	SNP	20857439	20857439	16286	14	G	T	T	43	43	TEP1	T	2	2
LRP10	26020	broad.mit.edu	37	14	23346451	23346451	+	Silent	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23346451G>A	uc001whd.2	+	7	2410	c.1857G>A	c.(1855-1857)AAG>AAA	p.K619K	LRP10_uc001whe.2_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	619	Pro-rich.|Cytoplasmic (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)														---	---	---	---	capture		Silent	SNP	23346451	23346451	9325	14	G	A	A	35	35	LRP10	A	2	2
MYH7	4625	broad.mit.edu	37	14	23901920	23901920	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23901920C>T	uc001wjx.2	-	5	536	c.430G>A	c.(430-432)GGC>AGC	p.G144S		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	144	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)														---	---	---	---	capture		Missense_Mutation	SNP	23901920	23901920	10434	14	C	T	T	22	22	MYH7	T	2	2
ADCY4	196883	broad.mit.edu	37	14	24788418	24788418	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24788418C>G	uc001wov.2	-	23	2848	c.2842G>C	c.(2842-2844)GAT>CAT	p.D948H	ADCY4_uc001wow.2_Missense_Mutation_p.D948H|ADCY4_uc010toh.1_Missense_Mutation_p.D634H|ADCY4_uc001wox.2_Missense_Mutation_p.D948H|ADCY4_uc001woy.2_Missense_Mutation_p.D948H	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	948	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)														---	---	---	---	capture		Missense_Mutation	SNP	24788418	24788418	297	14	C	G	G	30	30	ADCY4	G	3	3
PRKD1	5587	broad.mit.edu	37	14	30105516	30105516	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:30105516C>T	uc001wqh.2	-	7	1351	c.1170G>A	c.(1168-1170)GAG>GAA	p.E390E		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	390					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)														---	---	---	---	capture		Silent	SNP	30105516	30105516	12961	14	C	T	T	24	24	PRKD1	T	2	2
LRFN5	145581	broad.mit.edu	37	14	42356690	42356690	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:42356690C>G	uc001wvm.2	+	3	2060	c.862C>G	c.(862-864)CTC>GTC	p.L288V	LRFN5_uc010ana.2_Missense_Mutation_p.L288V	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	288	Extracellular (Potential).|Ig-like.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)											HNSCC(30;0.082)			---	---	---	---	capture		Missense_Mutation	SNP	42356690	42356690	9314	14	C	G	G	32	32	LRFN5	G	3	3
L2HGDH	79944	broad.mit.edu	37	14	50736049	50736049	+	Splice_Site	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50736049C>A	uc001wxu.2	-	7	818	c.739_splice	c.e7-1	p.G247_splice	L2HGDH_uc010tqn.1_Splice_Site_p.G247_splice|L2HGDH_uc010tqo.1_Splice_Site_p.G247_splice	NM_024884	NP_079160			L-2-hydroxyglutarate dehydrogenase precursor						2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			ovary(2)	2	all_epithelial(31;0.000599)|Breast(41;0.0102)																	---	---	---	---	capture		Splice_Site	SNP	50736049	50736049	8913	14	C	A	A	24	24	L2HGDH	A	5	2
PTGDR	5729	broad.mit.edu	37	14	52735220	52735220	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52735220C>A	uc001wzq.2	+	1	790	c.688C>A	c.(688-690)CGG>AGG	p.R230R		NM_000953	NP_000944	Q13258	PD2R_HUMAN	prostaglandin D2 receptor	230	Cytoplasmic (Potential).					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)													---	---	---	---	capture		Silent	SNP	52735220	52735220	13195	14	C	A	A	23	23	PTGDR	A	1	1
TXNDC16	57544	broad.mit.edu	37	14	52907400	52907400	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52907400G>T	uc001wzs.2	-	19	2334	c.1885C>A	c.(1885-1887)CAG>AAG	p.Q629K	TXNDC16_uc010tqu.1_Missense_Mutation_p.Q624K|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	629					cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---	capture		Missense_Mutation	SNP	52907400	52907400	17351	14	G	T	T	45	45	TXNDC16	T	2	2
C14orf135	64430	broad.mit.edu	37	14	60581998	60581998	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60581998C>T	uc001xer.3	+	3	996	c.474C>T	c.(472-474)GGC>GGT	p.G158G	C14orf135_uc001xeq.2_Silent_p.G158G	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	hepatitis C virus F protein-binding protein 2	392	Helical; (Potential).					integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)														---	---	---	---	capture		Silent	SNP	60581998	60581998	1793	14	C	T	T	28	28	C14orf135	T	2	2
MTHFD1	4522	broad.mit.edu	37	14	64909106	64909106	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64909106G>T	uc001xhb.2	+	21	2509	c.2122G>T	c.(2122-2124)GGG>TGG	p.G708W	MTHFD1_uc010aqf.2_Missense_Mutation_p.G764W	NM_005956	NP_005947	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase 1	708	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)													---	---	---	---	capture		Missense_Mutation	SNP	64909106	64909106	10320	14	G	T	T	39	39	MTHFD1	T	1	1
ADAM20	8748	broad.mit.edu	37	14	70991102	70991102	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70991102G>A	uc001xme.2	-	2	768	c.523C>T	c.(523-525)CTT>TTT	p.L175F		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	125					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)														---	---	---	---	capture		Missense_Mutation	SNP	70991102	70991102	243	14	G	A	A	35	35	ADAM20	A	2	2
PROX2	283571	broad.mit.edu	37	14	75329373	75329373	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75329373G>A	uc001xqr.1	-	1	1165	c.1165C>T	c.(1165-1167)CCA>TCA	p.P389S	PROX2_uc001xqq.1_Intron	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	389					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)														---	---	---	---	capture		Missense_Mutation	SNP	75329373	75329373	13004	14	G	A	A	44	44	PROX2	A	2	2
KCNK10	54207	broad.mit.edu	37	14	88707111	88707111	+	Silent	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88707111G>A	uc001xwo.2	-	3	898	c.441C>T	c.(439-441)AAC>AAT	p.N147N	KCNK10_uc001xwm.2_Silent_p.N152N|KCNK10_uc001xwn.2_Silent_p.N152N	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	147					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5																		---	---	---	---	capture		Silent	SNP	88707111	88707111	8364	14	G	A	A	48	48	KCNK10	A	2	2
CPSF2	53981	broad.mit.edu	37	14	92600506	92600506	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92600506C>G	uc001yah.1	+	4	538	c.301C>G	c.(301-303)CTT>GTT	p.L101V		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	101					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)														---	---	---	---	capture		Missense_Mutation	SNP	92600506	92600506	3963	14	C	G	G	32	32	CPSF2	G	3	3
RTL1	388015	broad.mit.edu	37	14	101348272	101348272	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101348272C>T	uc010txj.1	-	1	2913	c.2854G>A	c.(2854-2856)GAG>AAG	p.E952K	MIR433_hsa-mir-433|MI0001723_RNA|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	952										pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	101348272	101348272	14204	14	C	T	T	32	32	RTL1	T	2	2
LCMT2	9836	broad.mit.edu	37	15	43621302	43621302	+	Silent	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43621302C>G	uc001zrg.2	-	1	1590	c.1386G>C	c.(1384-1386)CTG>CTC	p.L462L	LCMT2_uc010udn.1_Silent_p.L41L|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	462					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)													---	---	---	---	capture		Silent	SNP	43621302	43621302	9003	15	C	G	G	29	29	LCMT2	G	3	3
FBN1	2200	broad.mit.edu	37	15	48787692	48787692	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48787692A>G	uc001zwx.1	-	21	2841	c.2513T>C	c.(2512-2514)TTG>TCG	p.L838S		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	838	EGF-like 13; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---	capture		Missense_Mutation	SNP	48787692	48787692	5938	15	A	G	G	5	5	FBN1	G	4	4
FEM1B	10116	broad.mit.edu	37	15	68582855	68582855	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68582855C>T	uc002arg.2	+	2	1774	c.1159C>T	c.(1159-1161)CGA>TGA	p.R387*	FEM1B_uc002arh.2_Nonsense_Mutation_p.R307*	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	fem-1 homolog b	387					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	68582855	68582855	6047	15	C	T	T	31	31	FEM1B	T	5	1
HCN4	10021	broad.mit.edu	37	15	73617643	73617643	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73617643C>A	uc002avp.2	-	5	2727	c.1733G>T	c.(1732-1734)CGG>CTG	p.R578L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	578	Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)														---	---	---	---	capture		Missense_Mutation	SNP	73617643	73617643	7281	15	C	A	A	23	23	HCN4	A	1	1
KIAA1024	23251	broad.mit.edu	37	15	79750082	79750082	+	Silent	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79750082T>C	uc002bew.1	+	2	1668	c.1593T>C	c.(1591-1593)AGT>AGC	p.S531S	KIAA1024_uc010unk.1_Silent_p.S531S	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	531						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---	capture		Silent	SNP	79750082	79750082	8512	15	T	C	C	59	59	KIAA1024	C	4	4
MEX3B	84206	broad.mit.edu	37	15	82335546	82335546	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:82335546C>A	uc002bgq.1	-	2	1980	c.1665G>T	c.(1663-1665)CCG>CCT	p.P555P		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	555	RING-type.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2																		---	---	---	---	capture		Silent	SNP	82335546	82335546	9900	15	C	A	A	23	23	MEX3B	A	1	1
CACNA1H	8912	broad.mit.edu	37	16	1260849	1260849	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1260849G>T	uc002cks.2	+	21	4349	c.4101G>T	c.(4099-4101)CTG>CTT	p.L1367L	CACNA1H_uc002ckt.2_Silent_p.L1367L|CACNA1H_uc002cku.2_Silent_p.L73L|CACNA1H_uc010brj.2_Silent_p.L73L|CACNA1H_uc002ckv.2_Silent_p.L73L	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1367	Helical; Name=S3 of repeat III; (Potential).|III.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)													---	---	---	---	capture		Silent	SNP	1260849	1260849	2661	16	G	T	T	47	47	CACNA1H	T	2	2
BAIAP3	8938	broad.mit.edu	37	16	1397706	1397706	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1397706C>T	uc002clk.1	+	31	3014	c.3014C>T	c.(3013-3015)ACC>ATC	p.T1005I	BAIAP3_uc002clj.2_Missense_Mutation_p.T987I|BAIAP3_uc010uuz.1_Missense_Mutation_p.T970I|BAIAP3_uc010uva.1_Missense_Mutation_p.T942I|BAIAP3_uc010uvc.1_Missense_Mutation_p.T934I	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1005					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)																---	---	---	---	capture		Missense_Mutation	SNP	1397706	1397706	1325	16	C	T	T	18	18	BAIAP3	T	2	2
TBL3	10607	broad.mit.edu	37	16	2024958	2024958	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2024958G>A	uc002cnu.1	+	7	596	c.494G>A	c.(493-495)CGC>CAC	p.R165H	TBL3_uc002cnv.1_Missense_Mutation_p.R51H|TBL3_uc010bsb.1_5'UTR|TBL3_uc010bsc.1_Missense_Mutation_p.R51H|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	165	WD 3.				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	2024958	2024958	16169	16	G	A	A	38	38	TBL3	A	1	1
PKD1	5310	broad.mit.edu	37	16	2152826	2152826	+	Silent	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2152826G>A	uc002cos.1	-	24	9146	c.8937C>T	c.(8935-8937)TTC>TTT	p.F2979F	PKD1_uc002cot.1_Silent_p.F2979F|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2979	Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	2152826	2152826	12387	16	G	A	A	45	45	PKD1	A	2	2
TBC1D24	57465	broad.mit.edu	37	16	2550850	2550850	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2550850G>T	uc002cql.2	+	8	1711	c.1571G>T	c.(1570-1572)CGG>CTG	p.R524L	TBC1D24_uc002cqk.2_Missense_Mutation_p.R518L|TBC1D24_uc002cqm.2_Intron|TBC1D24_uc010bsm.2_RNA	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	524	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0																OREG0023552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	2550850	2550850	16136	16	G	T	T	39	39	TBC1D24	T	1	1
CLDN6	9074	broad.mit.edu	37	16	3065490	3065490	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3065490C>A	uc002csu.3	-	2	593	c.533G>T	c.(532-534)GGG>GTG	p.G178V		NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	178	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	3065490	3065490	3626	16	C	A	A	22	22	CLDN6	A	2	2
ABCC1	4363	broad.mit.edu	37	16	16219669	16219669	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16219669C>T	uc010bvi.2	+	26	3895	c.3720C>T	c.(3718-3720)GTC>GTT	p.V1240V	ABCC1_uc010bvj.2_Silent_p.V1181V|ABCC1_uc010bvk.2_Silent_p.V1184V|ABCC1_uc010bvl.2_Silent_p.V1240V|ABCC1_uc010bvm.2_Silent_p.V1125V|ABCC1_uc002del.3_Silent_p.V1134V	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1240	Helical; Name=17.|ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)													---	---	---	---	capture		Silent	SNP	16219669	16219669	50	16	C	T	T	29	29	ABCC1	T	2	2
POLR3E	55718	broad.mit.edu	37	16	22325429	22325429	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22325429G>A	uc002dkk.2	+	8	658	c.502G>A	c.(502-504)GAC>AAC	p.D168N	POLR3E_uc002dkj.1_Missense_Mutation_p.D168N|POLR3E_uc002dkm.2_Missense_Mutation_p.D132N|POLR3E_uc010vbr.1_Missense_Mutation_p.D168N|POLR3E_uc002dkl.2_Missense_Mutation_p.D168N|POLR3E_uc010vbs.1_Missense_Mutation_p.D132N|POLR3E_uc010vbt.1_Missense_Mutation_p.D112N	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	168					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)														---	---	---	---	capture		Missense_Mutation	SNP	22325429	22325429	12660	16	G	A	A	33	33	POLR3E	A	2	2
LCMT1	51451	broad.mit.edu	37	16	25186343	25186343	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:25186343G>T	uc002dnx.1	+	10	1128	c.970G>T	c.(970-972)GGA>TGA	p.G324*	LCMT1_uc002dny.1_Nonsense_Mutation_p.G269*|LCMT1_uc002dnz.1_Nonsense_Mutation_p.G224*|LCMT1_uc002doa.1_Nonsense_Mutation_p.G169*	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1 isoform a	324							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity				0				GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)													---	---	---	---	capture		Nonsense_Mutation	SNP	25186343	25186343	9002	16	G	T	T	35	35	LCMT1	T	5	2
VPS35	55737	broad.mit.edu	37	16	46710571	46710571	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46710571T>A	uc002eef.3	-	8	937	c.838A>T	c.(838-840)AAT>TAT	p.N280Y	VPS35_uc002eed.2_Missense_Mutation_p.N101Y|VPS35_uc002eee.2_Missense_Mutation_p.N241Y	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35	280					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding				0		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)																---	---	---	---	capture		Missense_Mutation	SNP	46710571	46710571	17770	16	T	A	A	62	62	VPS35	A	4	4
PHKB	5257	broad.mit.edu	37	16	47732384	47732384	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47732384T>A	uc002eev.3	+	30	3081	c.3029T>A	c.(3028-3030)CTG>CAG	p.L1010Q	PHKB_uc002eeu.3_Missense_Mutation_p.L1003Q|PHKB_uc002eew.3_Missense_Mutation_p.L251Q	NM_000293	NP_000284	Q93100	KPBB_HUMAN	phosphorylase kinase, beta isoform a	1010					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)																---	---	---	---	capture		Missense_Mutation	SNP	47732384	47732384	12269	16	T	A	A	55	55	PHKB	A	4	4
NOD2	64127	broad.mit.edu	37	16	50745378	50745378	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50745378A>C	uc002egm.1	+	4	1661	c.1556A>C	c.(1555-1557)CAG>CCG	p.Q519P	NOD2_uc010cbk.1_Missense_Mutation_p.Q492P|NOD2_uc002egl.1_Missense_Mutation_p.Q297P|NOD2_uc010cbl.1_Missense_Mutation_p.Q297P|NOD2_uc010cbm.1_Missense_Mutation_p.Q297P|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	519	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)																---	---	---	---	capture		Missense_Mutation	SNP	50745378	50745378	10920	16	A	C	C	7	7	NOD2	C	4	4
NUDT21	11051	broad.mit.edu	37	16	56473653	56473653	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56473653C>A	uc002eja.2	-	4	534	c.387G>T	c.(385-387)CTG>CTT	p.L129L	NUDT21_uc002eiz.2_Silent_p.L54L	NM_007006	NP_008937	O43809	CPSF5_HUMAN	cleavage and polyadenylation specific factor 5	129	Nudix hydrolase.|Nudix box.|Necessary for interactions with PAPOLA and PABPN1.|Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity				0																		---	---	---	---	capture		Silent	SNP	56473653	56473653	11143	16	C	A	A	21	21	NUDT21	A	2	2
CA7	766	broad.mit.edu	37	16	66881002	66881002	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66881002C>A	uc002eqi.2	+	2	219	c.110C>A	c.(109-111)TCC>TAC	p.S37Y	uc002eqh.2_Intron|CA7_uc002eqj.2_5'UTR	NM_005182	NP_005173	P43166	CAH7_HUMAN	carbonic anhydrase VII isoform 1	37					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)														---	---	---	---	capture		Missense_Mutation	SNP	66881002	66881002	2638	16	C	A	A	30	30	CA7	A	2	2
MARVELD3	91862	broad.mit.edu	37	16	71674862	71674862	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71674862A>G	uc002fau.2	+	3	1228	c.1165A>G	c.(1165-1167)AAA>GAA	p.K389E	PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 1	392	Cytoplasmic (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)																---	---	---	---	capture		Missense_Mutation	SNP	71674862	71674862	9703	16	A	G	G	5	5	MARVELD3	G	4	4
CNTNAP4	85445	broad.mit.edu	37	16	76513408	76513408	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:76513408C>A	uc002feu.1	+	14	2240	c.1855C>A	c.(1855-1857)CCA>ACA	p.P619T	CNTNAP4_uc002fev.1_Missense_Mutation_p.P483T|CNTNAP4_uc010chb.1_Missense_Mutation_p.P546T|CNTNAP4_uc002fex.1_Missense_Mutation_p.P622T|CNTNAP4_uc002few.2_Missense_Mutation_p.P594T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	619	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	76513408	76513408	3787	16	C	A	A	18	18	CNTNAP4	A	2	2
ATMIN	23300	broad.mit.edu	37	16	81077565	81077565	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81077565G>T	uc002ffz.1	+	4	1480	c.1462G>T	c.(1462-1464)GGG>TGG	p.G488W	ATMIN_uc002fga.2_Missense_Mutation_p.G330W|ATMIN_uc010vnn.1_Missense_Mutation_p.G259W|ATMIN_uc002fgb.1_Missense_Mutation_p.G330W	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	488					response to DNA damage stimulus	nucleus	zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	81077565	81077565	1129	16	G	T	T	47	47	ATMIN	T	2	2
OSGIN1	29948	broad.mit.edu	37	16	83999366	83999366	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83999366C>T	uc002fha.2	+	7	1820	c.1437C>T	c.(1435-1437)ATC>ATT	p.I479I	NECAB2_uc002fhd.2_5'Flank|OSGIN1_uc002fhb.2_Silent_p.I396I|OSGIN1_uc002fhc.2_Silent_p.I396I	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	479					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0																		---	---	---	---	capture		Silent	SNP	83999366	83999366	11700	16	C	T	T	31	31	OSGIN1	T	1	1
SLC7A5	8140	broad.mit.edu	37	16	87902863	87902863	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:87902863C>A	uc002fkm.2	-	1	238	c.166G>T	c.(166-168)GTG>TTG	p.V56L		NM_003486	NP_003477	Q01650	LAT1_HUMAN	solute carrier family 7 (cationic amino acid	56	Helical; (Potential).				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding				0				BRCA - Breast invasive adenocarcinoma(80;0.049)														---	---	---	---	capture		Missense_Mutation	SNP	87902863	87902863	15197	16	C	A	A	19	19	SLC7A5	A	1	1
RAP1GAP2	23108	broad.mit.edu	37	17	2898755	2898755	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2898755C>A	uc010ckd.2	+	13	1129	c.1039C>A	c.(1039-1041)CAG>AAG	p.Q347K	RAP1GAP2_uc010cke.2_Missense_Mutation_p.Q332K	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2 isoform 1	347	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	2898755	2898755	13498	17	C	A	A	21	21	RAP1GAP2	A	2	2
TP53	7157	broad.mit.edu	37	17	7578202	7578202	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578202A>T	uc002gim.2	-	6	841	c.647T>A	c.(646-648)GTG>GAG	p.V216E	TP53_uc002gig.1_Missense_Mutation_p.V216E|TP53_uc002gih.2_Missense_Mutation_p.V216E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V84E|TP53_uc010cng.1_Missense_Mutation_p.V84E|TP53_uc002gii.1_Missense_Mutation_p.V84E|TP53_uc010cnh.1_Missense_Mutation_p.V216E|TP53_uc010cni.1_Missense_Mutation_p.V216E|TP53_uc002gij.2_Missense_Mutation_p.V216E|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123E|TP53_uc002gio.2_Missense_Mutation_p.V84E|TP53_uc010vug.1_Missense_Mutation_p.V177E	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	216	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> M (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(49)|p.V216del(8)|p.0?(7)|p.V216L(7)|p.V216E(4)|p.V216G(3)|p.V216A(3)|p.V216fs*31(2)|p.H214fs*5(2)|p.V216fs*6(2)|p.K164_P219del(1)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V216insX(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	7578202	7578202	16923	17	A	T	T	6	6	TP53	T	4	4
PFAS	5198	broad.mit.edu	37	17	8167591	8167591	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8167591C>A	uc002gkr.2	+	16	1994	c.1853C>A	c.(1852-1854)CCG>CAG	p.P618Q	PFAS_uc010vuv.1_Missense_Mutation_p.P194Q|PFAS_uc010cnw.1_Missense_Mutation_p.P118Q|PFAS_uc002gks.2_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	618					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	SNP	8167591	8167591	12176	17	C	A	A	23	23	PFAS	A	1	1
PFAS	5198	broad.mit.edu	37	17	8170927	8170927	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8170927G>A	uc002gkr.2	+	26	3467	c.3326G>A	c.(3325-3327)CGT>CAT	p.R1109H	PFAS_uc010vuv.1_Missense_Mutation_p.R685H|PFAS_uc002gks.2_Missense_Mutation_p.R188H	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1109	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	SNP	8170927	8170927	12176	17	G	A	A	40	40	PFAS	A	1	1
MYH8	4626	broad.mit.edu	37	17	10293781	10293781	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10293781C>A	uc002gmm.2	-	40	5899	c.5804G>T	c.(5803-5805)AGT>ATT	p.S1935I	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1935	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11														Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				---	---	---	---	capture		Missense_Mutation	SNP	10293781	10293781	10436	17	C	A	A	20	20	MYH8	A	2	2
MYH8	4626	broad.mit.edu	37	17	10315780	10315780	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10315780C>A	uc002gmm.2	-	14	1418	c.1323G>T	c.(1321-1323)TGG>TGT	p.W441C	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	441	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11														Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				---	---	---	---	capture		Missense_Mutation	SNP	10315780	10315780	10436	17	C	A	A	30	30	MYH8	A	2	2
MYH2	4620	broad.mit.edu	37	17	10433009	10433009	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10433009T>C	uc010coi.2	-	24	3117	c.2989A>G	c.(2989-2991)AAG>GAG	p.K997E	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.K997E|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	997	Potential.				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	10433009	10433009	10430	17	T	C	C	61	61	MYH2	C	4	4
MYO15A	51168	broad.mit.edu	37	17	18044424	18044424	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18044424C>A	uc010vxh.1	+	21	5836	c.5498C>A	c.(5497-5499)CCA>CAA	p.P1833Q		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	1833	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)															OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	18044424	18044424	10458	17	C	A	A	21	21	MYO15A	A	2	2
PIP4K2B	8396	broad.mit.edu	37	17	36927314	36927314	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36927314C>A	uc002hqs.2	-	8	1500	c.1019G>T	c.(1018-1020)GGG>GTG	p.G340V	PIP4K2B_uc010cvp.2_5'Flank	NM_003559	NP_003550	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	340	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	36927314	36927314	12361	17	C	A	A	22	22	PIP4K2B	A	2	2
MED1	5469	broad.mit.edu	37	17	37564270	37564270	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37564270G>T	uc002hrv.3	-	17	4416	c.4204C>A	c.(4204-4206)CCT>ACT	p.P1402T	MED1_uc010wee.1_Missense_Mutation_p.P1230T|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1402	Ser-rich.|Interaction with TP53.				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	37564270	37564270	9814	17	G	T	T	43	43	MED1	T	2	2
MED24	9862	broad.mit.edu	37	17	38209742	38209742	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38209742C>A	uc002htt.2	-	2	423	c.110G>T	c.(109-111)TGG>TTG	p.W37L	MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.W62L|MED24_uc002htu.2_Missense_Mutation_p.W37L|MED24_uc010cwn.2_Missense_Mutation_p.W37L|MED24_uc010weu.1_5'UTR|MED24_uc010wev.1_Intron|MED24_uc010wew.1_Intron|MED24_uc010wex.1_5'Flank|MED24_uc010wfa.1_5'Flank|MED24_uc010wfb.1_Missense_Mutation_p.W62L|MED24_uc010wfc.1_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	37					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		Missense_Mutation	SNP	38209742	38209742	9831	17	C	A	A	21	21	MED24	A	2	2
KRT14	3861	broad.mit.edu	37	17	39740083	39740083	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39740083C>A	uc002hxf.1	-	4	917	c.856G>T	c.(856-858)GAG>TAG	p.E286*	JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Nonsense_Mutation_p.E286*	NM_000526	NP_000517	P02533	K1C14_HUMAN	keratin 14	286	Rod.|Coil 2.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.000307)																---	---	---	---	capture		Nonsense_Mutation	SNP	39740083	39740083	8766	17	C	A	A	31	31	KRT14	A	5	1
CNTNAP1	8506	broad.mit.edu	37	17	40836080	40836080	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40836080G>T	uc002iay.2	+	3	412	c.196G>T	c.(196-198)GGG>TGG	p.G66W	CCR10_uc002iax.3_5'Flank|CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	66	Extracellular (Potential).|F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---	capture		Missense_Mutation	SNP	40836080	40836080	3784	17	G	T	T	47	47	CNTNAP1	T	2	2
B4GALNT2	124872	broad.mit.edu	37	17	47241536	47241536	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47241536G>T	uc002ion.2	+	8	1092	c.1033G>T	c.(1033-1035)GAG>TAG	p.E345*	B4GALNT2_uc010wlt.1_Nonsense_Mutation_p.E259*|B4GALNT2_uc010wlu.1_Nonsense_Mutation_p.E285*	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	345	Lumenal (Potential).				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			large_intestine(1)|ovary(1)	2			all cancers(6;0.000316)															---	---	---	---	capture		Nonsense_Mutation	SNP	47241536	47241536	1288	17	G	T	T	33	33	B4GALNT2	T	5	2
ANKFN1	162282	broad.mit.edu	37	17	54451996	54451996	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54451996G>T	uc002iun.1	+	7	875	c.840G>T	c.(838-840)ATG>ATT	p.M280I		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	280	Fibronectin type-III.									large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	54451996	54451996	628	17	G	T	T	47	47	ANKFN1	T	2	2
TRIM37	4591	broad.mit.edu	37	17	57109409	57109409	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57109409C>G	uc002iwy.3	-	18	2240	c.1796G>C	c.(1795-1797)AGA>ACA	p.R599T	TRIM37_uc002iwz.3_Missense_Mutation_p.R599T|TRIM37_uc002ixa.3_Missense_Mutation_p.R477T|TRIM37_uc010woc.1_Missense_Mutation_p.R565T	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	599						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)													Mulibrey_Nanism				---	---	---	---	capture		Missense_Mutation	SNP	57109409	57109409	17055	17	C	G	G	32	32	TRIM37	G	3	3
EFCAB3	146779	broad.mit.edu	37	17	60460380	60460380	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60460380C>G	uc002izu.1	+	2	118	c.40C>G	c.(40-42)CCT>GCT	p.P14A	EFCAB3_uc010wpc.1_Missense_Mutation_p.P66A	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3 isoform b	14							calcium ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)															---	---	---	---	capture		Missense_Mutation	SNP	60460380	60460380	5122	17	C	G	G	30	30	EFCAB3	G	3	3
OTOP2	92736	broad.mit.edu	37	17	72926394	72926394	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72926394G>T	uc010wrp.1	+	7	753	c.664G>T	c.(664-666)GGA>TGA	p.G222*		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	222						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)																	---	---	---	---	capture		Nonsense_Mutation	SNP	72926394	72926394	11718	17	G	T	T	39	39	OTOP2	T	5	1
ST6GALNAC1	55808	broad.mit.edu	37	17	74625750	74625750	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74625750G>T	uc002jsh.2	-	2	349	c.175C>A	c.(175-177)CTG>ATG	p.L59M	ST6GALNAC1_uc002jsi.2_Translation_Start_Site|ST6GALNAC1_uc002jsj.2_RNA	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	sialyltransferase 7A	59	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	74625750	74625750	15741	17	G	T	T	35	35	ST6GALNAC1	T	2	2
MGAT5B	146664	broad.mit.edu	37	17	74921168	74921168	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74921168C>G	uc002jti.2	+	8	1282	c.1179C>G	c.(1177-1179)TTC>TTG	p.F393L	MGAT5B_uc002jth.2_Missense_Mutation_p.F382L	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	N-acetylglucosaminyltranferase VB isoform 2	382	Lumenal (Potential).					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	74921168	74921168	9939	17	C	G	G	29	29	MGAT5B	G	3	3
USP36	57602	broad.mit.edu	37	17	76831437	76831437	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76831437T>C	uc002jvz.1	-	4	725	c.400A>G	c.(400-402)AAT>GAT	p.N134D	USP36_uc002jwa.1_Missense_Mutation_p.N134D|USP36_uc002jwd.1_Missense_Mutation_p.N134D	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	134					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)															---	---	---	---	capture		Missense_Mutation	SNP	76831437	76831437	17631	17	T	C	C	63	63	USP36	C	4	4
ZNF750	79755	broad.mit.edu	37	17	80789097	80789097	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80789097G>T	uc002kga.2	-	2	1545	c.1234C>A	c.(1234-1236)CCA>ACA	p.P412T	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	412						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)															---	---	---	---	capture		Missense_Mutation	SNP	80789097	80789097	18730	17	G	T	T	43	43	ZNF750	T	2	2
EMILIN2	84034	broad.mit.edu	37	18	2892310	2892310	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2892310G>T	uc002kln.2	+	4	2344	c.2185G>T	c.(2185-2187)GGG>TGG	p.G729W		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	729					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)														---	---	---	---	capture		Missense_Mutation	SNP	2892310	2892310	5286	18	G	T	T	43	43	EMILIN2	T	2	2
SPIRE1	56907	broad.mit.edu	37	18	12463419	12463419	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12463419G>T	uc002kre.2	-	12	1616	c.1569C>A	c.(1567-1569)TCC>TCA	p.S523S	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Silent_p.S389S|SPIRE1_uc010wzx.1_Silent_p.S312S|SPIRE1_uc010wzy.1_Silent_p.S509S	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	523						cytoskeleton|perinuclear region of cytoplasm	actin binding				0																		---	---	---	---	capture		Silent	SNP	12463419	12463419	15584	18	G	T	T	47	47	SPIRE1	T	2	2
LAMA3	3909	broad.mit.edu	37	18	21424984	21424984	+	Silent	SNP	A	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21424984A>G	uc002kuq.2	+	30	3701	c.3615A>G	c.(3613-3615)CTA>CTG	p.L1205L	LAMA3_uc002kur.2_Silent_p.L1205L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1205	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---	capture		Silent	SNP	21424984	21424984	8930	18	A	G	G	15	15	LAMA3	G	4	4
CXXC1	30827	broad.mit.edu	37	18	47812290	47812290	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47812290C>G	uc002leq.3	-	5	1201	c.468G>C	c.(466-468)CAG>CAC	p.Q156H	CXXC1_uc002lep.3_Missense_Mutation_p.Q13H|CXXC1_uc002ler.3_Missense_Mutation_p.Q156H|CXXC1_uc010doy.2_Missense_Mutation_p.Q156H|CXXC1_uc002les.2_Missense_Mutation_p.Q156H	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	156					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	47812290	47812290	4257	18	C	G	G	28	28	CXXC1	G	3	3
ATP8B1	5205	broad.mit.edu	37	18	55361814	55361814	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:55361814C>T	uc002lgw.2	-	10	1029	c.1029G>A	c.(1027-1029)ACG>ACA	p.T343T	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	343	Helical; (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)												Byler_disease				---	---	---	---	capture		Silent	SNP	55361814	55361814	1213	18	C	T	T	23	23	ATP8B1	T	1	1
SOCS6	9306	broad.mit.edu	37	18	67992780	67992780	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67992780C>A	uc002lkr.1	+	2	1192	c.876C>A	c.(874-876)ACC>ACA	p.T292T	SOCS6_uc010dqq.2_Silent_p.T292T	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	292					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)																---	---	---	---	capture		Silent	SNP	67992780	67992780	15418	18	C	A	A	21	21	SOCS6	A	2	2
PLIN4	729359	broad.mit.edu	37	19	4512463	4512463	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4512463G>T	uc002mar.1	-	3	1467	c.1467C>A	c.(1465-1467)TCC>TCA	p.S489S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	489	27 X 33 AA approximate tandem repeat.|12.					lipid particle|plasma membrane					0																		---	---	---	---	capture		Silent	SNP	4512463	4512463	12518	19	G	T	T	47	47	PLIN4	T	2	2
MUC16	94025	broad.mit.edu	37	19	9011435	9011435	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9011435G>T	uc002mkp.2	-	36	39002	c.38798C>A	c.(38797-38799)CCC>CAC	p.P12933H	MUC16_uc010xki.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12935	SEA 6.|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	9011435	9011435	10367	19	G	T	T	43	43	MUC16	T	2	2
MUC16	94025	broad.mit.edu	37	19	9072615	9072615	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9072615T>C	uc002mkp.2	-	3	15035	c.14831A>G	c.(14830-14832)GAT>GGT	p.D4944G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4946	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	9072615	9072615	10367	19	T	C	C	50	50	MUC16	C	4	4
RGL3	57139	broad.mit.edu	37	19	11515847	11515847	+	Silent	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11515847G>C	uc002mrp.2	-	9	1225	c.1161C>G	c.(1159-1161)CTC>CTG	p.L387L	RGL3_uc002mrn.2_Silent_p.L151L|RGL3_uc002mrm.2_Silent_p.L151L|RGL3_uc002mro.2_Silent_p.L387L	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	387	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	11515847	11515847	13751	19	G	C	C	45	45	RGL3	C	3	3
RGL3	57139	broad.mit.edu	37	19	11515889	11515889	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11515889G>C	uc002mrp.2	-	9	1183	c.1119C>G	c.(1117-1119)TTC>TTG	p.F373L	RGL3_uc002mrn.2_Missense_Mutation_p.F137L|RGL3_uc002mrm.2_Missense_Mutation_p.F137L|RGL3_uc002mro.2_Missense_Mutation_p.F373L	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	373	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	11515889	11515889	13751	19	G	C	C	45	45	RGL3	C	3	3
ZNF564	163050	broad.mit.edu	37	19	12638156	12638156	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12638156G>A	uc002mty.2	-	4	976	c.766C>T	c.(766-768)CAG>TAG	p.Q256*	ZNF709_uc002mtx.3_Intron	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	256	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	12638156	12638156	18590	19	G	A	A	45	45	ZNF564	A	5	2
ZNF791	163049	broad.mit.edu	37	19	12739643	12739643	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12739643C>A	uc002mua.2	+	4	1462	c.1300C>A	c.(1300-1302)CAC>AAC	p.H434N	ZNF791_uc010xml.1_Missense_Mutation_p.H402N|ZNF791_uc010dyu.1_Missense_Mutation_p.H325N|ZNF791_uc010xmm.1_Missense_Mutation_p.H325N	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	434	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	12739643	12739643	18761	19	C	A	A	21	21	ZNF791	A	2	2
MAST1	22983	broad.mit.edu	37	19	12969501	12969501	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12969501C>T	uc002mvm.2	+	12	1442	c.1314C>T	c.(1312-1314)TTC>TTT	p.F438F	MAST1_uc002mvk.2_Silent_p.F434F	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	438	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7																		---	---	---	---	capture		Silent	SNP	12969501	12969501	9708	19	C	T	T	32	32	MAST1	T	2	2
SIN3B	23309	broad.mit.edu	37	19	16988391	16988391	+	Silent	SNP	C	A	A	rs146672332		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16988391C>A	uc002ney.1	+	18	3005	c.2991C>A	c.(2989-2991)ACC>ACA	p.T997T	SIN3B_uc002nez.1_Silent_p.T965T|SIN3B_uc010xpi.1_Silent_p.T555T|SIN3B_uc010eaj.1_5'UTR	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	997					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	16988391	16988391	14821	19	C	A	A	23	23	SIN3B	A	1	1
MAP1S	55201	broad.mit.edu	37	19	17835935	17835935	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17835935G>T	uc002nhe.1	+	4	390	c.381G>T	c.(379-381)GAG>GAT	p.E127D	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Missense_Mutation_p.E127D|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.E101D	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	127	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17835935	17835935	9617	19	G	T	T	34	34	MAP1S	T	2	2
ZNF714	148206	broad.mit.edu	37	19	21299686	21299686	+	Silent	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21299686G>A	uc002npo.3	+	5	576	c.216G>A	c.(214-216)CTG>CTA	p.L72L	ZNF714_uc002npl.2_5'UTR|ZNF714_uc010ecp.1_Silent_p.L24L|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	21299686	21299686	18714	19	G	A	A	45	45	ZNF714	A	2	2
ATP4A	495	broad.mit.edu	37	19	36050025	36050025	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36050025C>A	uc002oal.1	-	8	1154	c.1125G>T	c.(1123-1125)GTG>GTT	p.V375V	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	375	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)													---	---	---	---	capture		Silent	SNP	36050025	36050025	1164	19	C	A	A	21	21	ATP4A	A	2	2
LGALS4	3960	broad.mit.edu	37	19	39297206	39297206	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39297206C>T	uc002ojg.2	-	4	583	c.369G>A	c.(367-369)GAG>GAA	p.E123E	LGALS4_uc010xuj.1_Silent_p.E123E	NM_006149	NP_006140	P56470	LEG4_HUMAN	galectin-4	123	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)															---	---	---	---	capture		Silent	SNP	39297206	39297206	9070	19	C	T	T	20	20	LGALS4	T	2	2
PSG9	5678	broad.mit.edu	37	19	43762593	43762593	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43762593G>T	uc002owd.3	-	5	1103	c.1004C>A	c.(1003-1005)CCC>CAC	p.P335H	PSG9_uc002owe.3_Missense_Mutation_p.P242H|PSG9_uc010xwm.1_Missense_Mutation_p.P242H|PSG9_uc002owf.3_Missense_Mutation_p.P149H|PSG9_uc002owg.2_Missense_Mutation_p.P242H|PSG9_uc002owh.2_Missense_Mutation_p.P149H	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	335	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)																---	---	---	---	capture		Missense_Mutation	SNP	43762593	43762593	13115	19	G	T	T	43	43	PSG9	T	2	2
IRGC	56269	broad.mit.edu	37	19	44223137	44223137	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44223137C>G	uc002oxh.2	+	2	574	c.427C>G	c.(427-429)CGC>GGC	p.R143G		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	143						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)																---	---	---	---	capture		Missense_Mutation	SNP	44223137	44223137	8141	19	C	G	G	23	23	IRGC	G	3	3
DHX34	9704	broad.mit.edu	37	19	47883023	47883023	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47883023G>T	uc010xyn.1	+	14	3104	c.2763G>T	c.(2761-2763)GTG>GTT	p.V921V	DHX34_uc010xyo.1_Silent_p.V50V	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	921						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)														---	---	---	---	capture		Silent	SNP	47883023	47883023	4686	19	G	T	T	47	47	DHX34	T	2	2
CCDC155	147872	broad.mit.edu	37	19	49910146	49910146	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49910146G>A	uc002pnm.1	+	10	976	c.802G>A	c.(802-804)GGG>AGG	p.G268R	CCDC155_uc010emx.1_Missense_Mutation_p.G241R	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	268	Potential.					integral to membrane	calcium ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	49910146	49910146	2910	19	G	A	A	39	39	CCDC155	A	1	1
KLK1	3816	broad.mit.edu	37	19	51323551	51323551	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51323551G>T	uc002ptk.1	-	3	394	c.355C>A	c.(355-357)CAC>AAC	p.H119N	KLK1_uc010ycg.1_RNA	NM_002257	NP_002248	P06870	KLK1_HUMAN	kallikrein 1 preproprotein	119	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity				0		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---	capture		Missense_Mutation	SNP	51323551	51323551	8711	19	G	T	T	47	47	KLK1	T	2	2
SIGLEC9	27180	broad.mit.edu	37	19	51628368	51628368	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51628368C>A	uc002pvu.2	+	1	204	c.137C>A	c.(136-138)CCC>CAC	p.P46H	SIGLEC9_uc010yct.1_Missense_Mutation_p.P46H	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	46	Extracellular (Potential).|Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)														---	---	---	---	capture		Missense_Mutation	SNP	51628368	51628368	14810	19	C	A	A	22	22	SIGLEC9	A	2	2
SIGLEC12	89858	broad.mit.edu	37	19	52003549	52003549	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52003549G>T	uc002pwx.1	-	2	489	c.433C>A	c.(433-435)CAG>AAG	p.Q145K	SIGLEC12_uc002pww.1_Missense_Mutation_p.Q27K|SIGLEC12_uc010eoy.1_Intron	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	145	Ig-like V-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)														---	---	---	---	capture		Missense_Mutation	SNP	52003549	52003549	14803	19	G	T	T	47	47	SIGLEC12	T	2	2
ZNF614	80110	broad.mit.edu	37	19	52520455	52520455	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52520455C>G	uc002pyj.2	-	5	798	c.396G>C	c.(394-396)TTG>TTC	p.L132F	ZNF614_uc002pyi.3_Missense_Mutation_p.L132F|ZNF614_uc010epj.2_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)														---	---	---	---	capture		Missense_Mutation	SNP	52520455	52520455	18634	19	C	G	G	17	17	ZNF614	G	3	3
ZNF765	91661	broad.mit.edu	37	19	53912075	53912075	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53912075C>A	uc010ydx.1	+	6	1594	c.1267C>A	c.(1267-1269)CAG>AAG	p.Q423K	ZNF765_uc002qbm.2_Missense_Mutation_p.Q423K|ZNF765_uc002qbn.2_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	423	C2H2-type 8; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.00379)														---	---	---	---	capture		Missense_Mutation	SNP	53912075	53912075	18737	19	C	A	A	25	25	ZNF765	A	2	2
LILRA4	23547	broad.mit.edu	37	19	54849797	54849797	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54849797C>A	uc002qfj.2	-	3	282	c.225G>T	c.(223-225)CTG>CTT	p.L75L	LILRA4_uc002qfi.2_Silent_p.L9L	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	75	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)														---	---	---	---	capture		Silent	SNP	54849797	54849797	9113	19	C	A	A	21	21	LILRA4	A	2	2
LILRA2	11027	broad.mit.edu	37	19	55087554	55087554	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55087554C>A	uc002qgg.3	+	6	1322	c.1233C>A	c.(1231-1233)GAC>GAA	p.D411E	LILRA2_uc010ern.2_Missense_Mutation_p.D411E|LILRA2_uc002qgf.2_Missense_Mutation_p.D411E|LILRA2_uc010yfe.1_Missense_Mutation_p.D411E|LILRA2_uc010yff.1_Missense_Mutation_p.D399E|LILRA2_uc010ero.2_Missense_Mutation_p.D399E|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	411	Ig-like C2-type 4.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)														---	---	---	---	capture		Missense_Mutation	SNP	55087554	55087554	9111	19	C	A	A	18	18	LILRA2	A	2	2
TNNT1	7138	broad.mit.edu	37	19	55658520	55658520	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55658520C>A	uc002qjb.3	-	2	95	c.6G>T	c.(4-6)TCG>TCT	p.S2S	TNNT1_uc002qiz.3_5'Flank|TNNT1_uc002qja.3_5'Flank|TNNT1_uc002qjc.3_Silent_p.S2S|TNNT1_uc002qje.3_Silent_p.S2S|TNNT1_uc002qjd.3_Silent_p.S2S|TNNT1_uc002qjf.2_Silent_p.S2S	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	2					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)														---	---	---	---	capture		Silent	SNP	55658520	55658520	16871	19	C	A	A	23	23	TNNT1	A	1	1
BRSK1	84446	broad.mit.edu	37	19	55813535	55813535	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55813535C>T	uc002qkg.2	+	9	1133	c.856C>T	c.(856-858)CTA>TTA	p.L286L	BRSK1_uc002qkf.2_Silent_p.L302L|BRSK1_uc002qkh.2_5'UTR	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	286					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)												OREG0025680	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	55813535	55813535	1554	19	C	T	T	24	24	BRSK1	T	2	2
NLRP11	204801	broad.mit.edu	37	19	56297101	56297101	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56297101G>T	uc010ygf.1	-	12	3703	c.2992C>A	c.(2992-2994)CAG>AAG	p.Q998K	NLRP11_uc002qlz.2_Missense_Mutation_p.Q845K|NLRP11_uc002qmb.2_Missense_Mutation_p.Q899K|NLRP11_uc002qmc.2_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	998							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---	capture		Missense_Mutation	SNP	56297101	56297101	10876	19	G	T	T	45	45	NLRP11	T	2	2
USP29	57663	broad.mit.edu	37	19	57640914	57640914	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57640914G>A	uc002qny.2	+	4	1227	c.871G>A	c.(871-873)GGA>AGA	p.G291R		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	291					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	57640914	57640914	17623	19	G	A	A	43	43	USP29	A	2	2
ZNF773	374928	broad.mit.edu	37	19	58017861	58017861	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58017861C>A	uc002qox.2	+	4	538	c.398C>A	c.(397-399)CCA>CAA	p.P133Q	ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Missense_Mutation_p.P132Q|ZNF773_uc002qoz.2_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	zinc finger protein 773	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)														---	---	---	---	capture		Missense_Mutation	SNP	58017861	58017861	18744	19	C	A	A	21	21	ZNF773	A	2	2
ZNF550	162972	broad.mit.edu	37	19	58059041	58059041	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58059041C>A	uc002qpe.1	-	2	448	c.448G>T	c.(448-450)GGG>TGG	p.G150W	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	zinc finger protein 550	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	58059041	58059041	18577	19	C	A	A	24	24	ZNF550	A	2	2
MATN3	4148	broad.mit.edu	37	2	20200307	20200307	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20200307C>A	uc002rdl.2	-	5	1126	c.1063G>T	c.(1063-1065)GGT>TGT	p.G355C	MATN3_uc010exu.1_Missense_Mutation_p.G313C	NM_002381	NP_002372	O15232	MATN3_HUMAN	matrilin 3 precursor	355	EGF-like 3.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Missense_Mutation	SNP	20200307	20200307	9719	2	C	A	A	22	22	MATN3	A	2	2
TMEM214	54867	broad.mit.edu	37	2	27260448	27260448	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27260448C>G	uc002ria.3	+	9	1140	c.1030C>G	c.(1030-1032)CAG>GAG	p.Q344E	TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.Q299E	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	transmembrane protein 214 isoform 1	344						integral to membrane	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	27260448	27260448	16673	2	C	G	G	29	29	TMEM214	G	3	3
CGREF1	10669	broad.mit.edu	37	2	27325395	27325395	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27325395C>A	uc010eys.1	-	3	287	c.145G>T	c.(145-147)GGA>TGA	p.G49*	CGREF1_uc010ylf.1_5'UTR|CGREF1_uc002rip.1_Silent_p.S26S|CGREF1_uc002riq.2_Nonsense_Mutation_p.G49*|CGREF1_uc010eyr.1_Nonsense_Mutation_p.G171*|CGREF1_uc002rir.1_Nonsense_Mutation_p.G49*|CGREF1_uc002ris.2_Nonsense_Mutation_p.G49*	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	49					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Nonsense_Mutation	SNP	27325395	27325395	3438	2	C	A	A	23	23	CGREF1	A	5	1
ALK	238	broad.mit.edu	37	2	29430083	29430083	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29430083G>T	uc002rmy.2	-	26	4799	c.3892C>A	c.(3892-3894)CCA>ACA	p.P1298T	ALK_uc010ymo.1_Missense_Mutation_p.P230T	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor	1298	Protein kinase.|Cytoplasmic (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				---	---	---	---	capture		Missense_Mutation	SNP	29430083	29430083	528	2	G	T	T	43	43	ALK	T	2	2
BIRC6	57448	broad.mit.edu	37	2	32712731	32712731	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32712731G>T	uc010ezu.2	+	41	7965	c.7831G>T	c.(7831-7833)GGA>TGA	p.G2611*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2611					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		Nonsense_Mutation	SNP	32712731	32712731	1463	2	G	T	T	47	47	BIRC6	T	5	2
BIRC6	57448	broad.mit.edu	37	2	32832614	32832614	+	Silent	SNP	A	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32832614A>T	uc010ezu.2	+	72	14297	c.14163A>T	c.(14161-14163)ACA>ACT	p.T4721T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4721					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	32832614	32832614	1463	2	A	T	T	6	6	BIRC6	T	4	4
SLC8A1	6546	broad.mit.edu	37	2	40656932	40656932	+	Silent	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:40656932T>C	uc002rrx.2	-	1	513	c.489A>G	c.(487-489)GCA>GCG	p.A163A	SLC8A1_uc002rry.2_Silent_p.A163A|SLC8A1_uc002rrz.2_Silent_p.A163A|SLC8A1_uc002rsa.2_Silent_p.A163A|SLC8A1_uc002rsd.3_Silent_p.A163A|SLC8A1_uc002rsb.1_Silent_p.A163A|SLC8A1_uc010fan.1_Silent_p.A163A|SLC8A1_uc002rsc.1_Silent_p.A163A	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	163	Extracellular (Potential).|Alpha-1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)													---	---	---	---	capture		Silent	SNP	40656932	40656932	15203	2	T	C	C	55	55	SLC8A1	C	4	4
PLEKHH2	130271	broad.mit.edu	37	2	43986038	43986038	+	Splice_Site	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43986038G>A	uc010yny.1	+	27	4025	c.3942_splice	c.e27-1	p.R1314_splice		NM_172069	NP_742066			pleckstrin homology domain containing, family H							cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)																---	---	---	---	capture		Splice_Site	SNP	43986038	43986038	12503	2	G	A	A	35	35	PLEKHH2	A	5	2
SRBD1	55133	broad.mit.edu	37	2	45826850	45826850	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:45826850C>A	uc002rus.2	-	4	462	c.386G>T	c.(385-387)AGG>ATG	p.R129M		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	129					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	45826850	45826850	15647	2	C	A	A	24	24	SRBD1	A	2	2
GMCL1	64395	broad.mit.edu	37	2	70064701	70064701	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70064701A>G	uc002sfu.2	+	2	490	c.283A>G	c.(283-285)AAA>GAA	p.K95E		NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN	germ cell-less	95					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	70064701	70064701	6754	2	A	G	G	13	13	GMCL1	G	4	4
CYP26B1	56603	broad.mit.edu	37	2	72359529	72359529	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:72359529C>A	uc002sih.1	-	6	1366	c.1366G>T	c.(1366-1368)GTG>TTG	p.V456L	CYP26B1_uc010yra.1_Missense_Mutation_p.V439L|CYP26B1_uc010yrb.1_Missense_Mutation_p.V381L	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	456					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	72359529	72359529	4321	2	C	A	A	18	18	CYP26B1	A	2	2
CTNNA2	1496	broad.mit.edu	37	2	79878739	79878739	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79878739C>G	uc010ysh.1	+	1	62	c.57C>G	c.(55-57)ATC>ATG	p.I19M	CTNNA2_uc010yse.1_Missense_Mutation_p.I19M|CTNNA2_uc010ysf.1_Missense_Mutation_p.I19M|CTNNA2_uc010ysg.1_Missense_Mutation_p.I19M|hsa-mir-4264|MI0015877_5'Flank	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	19					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	79878739	79878739	4172	2	C	G	G	30	30	CTNNA2	G	3	3
FAHD2A	51011	broad.mit.edu	37	2	96076693	96076693	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96076693G>T	uc002sur.2	+	5	783	c.604G>T	c.(604-606)GGG>TGG	p.G202W	FAHD2A_uc002sus.2_Missense_Mutation_p.G202W	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing	202							hydrolase activity|metal ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	96076693	96076693	5570	2	G	T	T	47	47	FAHD2A	T	2	2
CNTNAP5	129684	broad.mit.edu	37	2	124979288	124979288	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:124979288G>T	uc002tno.2	+	2	453	c.89G>T	c.(88-90)TGT>TTT	p.C30F	CNTNAP5_uc010flu.2_Missense_Mutation_p.C30F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	30	F5/8 type C.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---	capture		Missense_Mutation	SNP	124979288	124979288	3788	2	G	T	T	48	48	CNTNAP5	T	2	2
THSD7B	80731	broad.mit.edu	37	2	137814720	137814720	+	Silent	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:137814720G>C	uc002tva.1	+	2	777	c.777G>C	c.(775-777)TCG>TCC	p.S259S	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Silent_p.S149S	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		Silent	SNP	137814720	137814720	16408	2	G	C	C	37	37	THSD7B	C	3	3
SLC4A10	57282	broad.mit.edu	37	2	162751233	162751233	+	Missense_Mutation	SNP	G	T	T	rs61748241		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162751233G>T	uc002ubx.3	+	11	1423	c.1239G>T	c.(1237-1239)TTG>TTT	p.L413F	SLC4A10_uc010fpa.1_Missense_Mutation_p.L425F|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.L383F|SLC4A10_uc010zcs.1_Missense_Mutation_p.L394F	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	413	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	162751233	162751233	15148	2	G	T	T	47	47	SLC4A10	T	2	2
TTN	7273	broad.mit.edu	37	2	179416645	179416645	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179416645G>T	uc010zfg.1	-	284	83502	c.83278C>A	c.(83278-83280)CCA>ACA	p.P27760T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P21455T|TTN_uc010zfi.1_Missense_Mutation_p.P21388T|TTN_uc010zfj.1_Missense_Mutation_p.P21263T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28687							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	179416645	179416645	17290	2	G	T	T	43	43	TTN	T	2	2
CCDC141	285025	broad.mit.edu	37	2	179702022	179702022	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179702022C>G	uc002unf.1	-	13	2256	c.2199G>C	c.(2197-2199)AAG>AAC	p.K733N	CCDC141_uc002une.1_Missense_Mutation_p.K183N	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	733							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	179702022	179702022	2895	2	C	G	G	32	32	CCDC141	G	3	3
SATB2	23314	broad.mit.edu	37	2	200137136	200137136	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:200137136C>A	uc002uuy.1	-	11	2817	c.2000G>T	c.(1999-2001)CGG>CTG	p.R667L	SATB2_uc010fsq.1_Missense_Mutation_p.R549L|SATB2_uc002uuz.1_Missense_Mutation_p.R667L|SATB2_uc002uva.1_Missense_Mutation_p.R667L	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	667	Homeobox.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	200137136	200137136	14335	2	C	A	A	23	23	SATB2	A	1	1
PARD3B	117583	broad.mit.edu	37	2	206023503	206023503	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206023503G>T	uc002var.1	+	11	1699	c.1492G>T	c.(1492-1494)GAG>TAG	p.E498*	PARD3B_uc010fub.1_Nonsense_Mutation_p.E498*|PARD3B_uc002vao.1_Nonsense_Mutation_p.E498*|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Nonsense_Mutation_p.E498*	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	498	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)														---	---	---	---	capture		Nonsense_Mutation	SNP	206023503	206023503	11861	2	G	T	T	45	45	PARD3B	T	5	2
PIKFYVE	200576	broad.mit.edu	37	2	209200098	209200098	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209200098C>T	uc002vcz.2	+	25	4369	c.4211C>T	c.(4210-4212)CCA>CTA	p.P1404L	PIKFYVE_uc002vcy.1_Missense_Mutation_p.P1348L	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1404					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	209200098	209200098	12348	2	C	T	T	21	21	PIKFYVE	T	2	2
FN1	2335	broad.mit.edu	37	2	216251681	216251681	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216251681C>T	uc002vfa.2	-	28	4609	c.4343G>A	c.(4342-4344)GGT>GAT	p.G1448D	FN1_uc002vfb.2_Missense_Mutation_p.G1357D|FN1_uc002vfc.2_Missense_Mutation_p.G1357D|FN1_uc002vfd.2_Missense_Mutation_p.G1448D|FN1_uc002vfe.2_Missense_Mutation_p.G1357D|FN1_uc002vff.2_Missense_Mutation_p.G1357D|FN1_uc002vfg.2_Missense_Mutation_p.G1357D|FN1_uc002vfh.2_Missense_Mutation_p.G1357D|FN1_uc002vfi.2_Missense_Mutation_p.G1448D|FN1_uc002vfj.2_Missense_Mutation_p.G1448D|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Missense_Mutation_p.G75D	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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	216251681	216251681	6204	2	C	T	T	18	18	FN1	T	2	2
SLC23A2	9962	broad.mit.edu	37	20	4866555	4866555	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4866555C>A	uc002wlg.1	-	7	858	c.483G>T	c.(481-483)AGG>AGT	p.R161S	SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Missense_Mutation_p.R161S|SLC23A2_uc002wli.2_Missense_Mutation_p.R160S	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	161					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	4866555	4866555	14960	20	C	A	A	18	18	SLC23A2	A	2	2
HAO1	54363	broad.mit.edu	37	20	7866369	7866369	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:7866369C>A	uc002wmw.1	-	6	980	c.956G>T	c.(955-957)TGG>TTG	p.W319L	HAO1_uc010gbu.2_Missense_Mutation_p.W319L	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	319	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	7866369	7866369	7233	20	C	A	A	21	21	HAO1	A	2	2
SEC23B	10483	broad.mit.edu	37	20	18529360	18529360	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18529360C>T	uc002wqz.1	+	16	2294	c.1851C>T	c.(1849-1851)TCC>TCT	p.S617S	SEC23B_uc002wra.1_Silent_p.S617S|SEC23B_uc002wrb.1_Silent_p.S617S|SEC23B_uc010zsb.1_Silent_p.S599S|SEC23B_uc002wrc.1_Silent_p.S617S	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	617					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	18529360	18529360	14478	20	C	T	T	22	22	SEC23B	T	2	2
PAX1	5075	broad.mit.edu	37	20	21687637	21687637	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21687637C>A	uc002wsj.2	+	2	902	c.848C>A	c.(847-849)CCG>CAG	p.P283Q	PAX1_uc010zsl.1_Missense_Mutation_p.P283Q|PAX1_uc010zsm.1_Missense_Mutation_p.P259Q	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	283					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	21687637	21687637	11898	20	C	A	A	23	23	PAX1	A	1	1
PPDPF	79144	broad.mit.edu	37	20	62153023	62153023	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62153023C>G	uc002yff.2	+	4	276	c.136C>G	c.(136-138)CTC>GTC	p.L46V		NM_024299	NP_077275	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and	46					cell differentiation|multicellular organismal development						0																		---	---	---	---	capture		Missense_Mutation	SNP	62153023	62153023	12736	20	C	G	G	32	32	PPDPF	G	3	3
GMEB2	26205	broad.mit.edu	37	20	62223387	62223387	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62223387G>T	uc002yfp.1	-	8	1419	c.940C>A	c.(940-942)CGG>AGG	p.R314R	GMEB2_uc002yfo.1_Silent_p.R236R|GMEB2_uc002yfq.1_Silent_p.R314R	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	314	Potential.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)															---	---	---	---	capture		Silent	SNP	62223387	62223387	6757	20	G	T	T	39	39	GMEB2	T	1	1
CLDN8	9073	broad.mit.edu	37	21	31588225	31588225	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31588225C>G	uc002ynu.1	-	1	94	c.19G>C	c.(19-21)GAA>CAA	p.E7Q		NM_199328	NP_955360	P56748	CLD8_HUMAN	claudin 8	7	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	31588225	31588225	3628	21	C	G	G	32	32	CLDN8	G	3	3
KRTAP19-3	337970	broad.mit.edu	37	21	31864183	31864183	+	Silent	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31864183G>A	uc002yog.1	-	1	93	c.93C>T	c.(91-93)AGC>AGT	p.S31S		NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	31						intermediate filament					0																		---	---	---	---	capture		Silent	SNP	31864183	31864183	8845	21	G	A	A	34	34	KRTAP19-3	A	2	2
COL18A1	80781	broad.mit.edu	37	21	46897366	46897366	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46897366G>T	uc011afs.1	+	6	2236	c.2215G>T	c.(2215-2217)GGG>TGG	p.G739W	COL18A1_uc002zhg.2_Missense_Mutation_p.G324W|COL18A1_uc002zhi.2_Missense_Mutation_p.G504W	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	739	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)														---	---	---	---	capture		Missense_Mutation	SNP	46897366	46897366	3813	21	G	T	T	39	39	COL18A1	T	1	1
PCNT	5116	broad.mit.edu	37	21	47754536	47754536	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47754536C>A	uc002zji.3	+	3	600	c.493C>A	c.(493-495)CCA>ACA	p.P165T	PCNT_uc002zjj.2_Missense_Mutation_p.P47T|PCNT_uc010gqk.1_RNA	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	165					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)																	---	---	---	---	capture		Missense_Mutation	SNP	47754536	47754536	12010	21	C	A	A	22	22	PCNT	A	2	2
SLC25A18	83733	broad.mit.edu	37	22	18064177	18064177	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18064177G>A	uc002zmp.1	+	5	691	c.197G>A	c.(196-198)CGA>CAA	p.R66Q	SLC25A18_uc010gqx.2_Missense_Mutation_p.R66Q|SLC25A18_uc002zmq.1_Missense_Mutation_p.R66Q	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	solute carrier	66	Solcar 1.|Helical; Name=2; (Potential).					integral to membrane|mitochondrial inner membrane	binding|symporter activity				0				Lung(27;0.124)	L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	18064177	18064177	14977	22	G	A	A	37	37	SLC25A18	A	1	1
TCN2	6948	broad.mit.edu	37	22	31003382	31003382	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31003382G>T	uc003aip.1	+	1	222	c.64G>T	c.(64-66)GAA>TAA	p.E22*	PES1_uc003ain.1_5'Flank|PES1_uc003aio.1_5'Flank|TCN2_uc003aiq.1_Nonsense_Mutation_p.E22*|TCN2_uc003air.1_Nonsense_Mutation_p.E22*	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	22					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---	capture		Nonsense_Mutation	SNP	31003382	31003382	16233	22	G	T	T	47	47	TCN2	T	5	2
DEPDC5	9681	broad.mit.edu	37	22	32241209	32241209	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32241209G>T	uc003als.2	+	30	3122	c.2980G>T	c.(2980-2982)GAT>TAT	p.D994Y	DEPDC5_uc011als.1_Missense_Mutation_p.D925Y|DEPDC5_uc011alu.1_Missense_Mutation_p.D1003Y|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.D994Y|DEPDC5_uc003alu.2_Missense_Mutation_p.D443Y|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.D324Y|DEPDC5_uc003alw.2_Missense_Mutation_p.D292Y|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'UTR	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	994					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	32241209	32241209	4621	22	G	T	T	41	41	DEPDC5	T	2	2
SLC5A1	6523	broad.mit.edu	37	22	32477933	32477933	+	Silent	SNP	A	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32477933A>G	uc003amc.2	+	6	790	c.558A>G	c.(556-558)GCA>GCG	p.A186A	SLC5A1_uc011alz.1_Silent_p.A59A	NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	186	Helical; (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	32477933	32477933	15158	22	A	G	G	5	5	SLC5A1	G	4	4
TMPRSS6	164656	broad.mit.edu	37	22	37466994	37466994	+	Missense_Mutation	SNP	C	A	A	rs150953057		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37466994C>A	uc003aqs.1	-	14	1775	c.1661G>T	c.(1660-1662)CGG>CTG	p.R554L	TMPRSS6_uc003aqt.1_Missense_Mutation_p.R545L	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	554	LDL-receptor class A 3.|Extracellular (Potential).				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(4)|ovary(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	37466994	37466994	16792	22	C	A	A	23	23	TMPRSS6	A	1	1
CYTH4	27128	broad.mit.edu	37	22	37707538	37707538	+	Silent	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37707538G>A	uc003arf.2	+	11	1043	c.927G>A	c.(925-927)TCG>TCA	p.S309S	CYTH4_uc011amw.1_Silent_p.S252S|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	309	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	37707538	37707538	4371	22	G	A	A	39	39	CYTH4	A	1	1
TTLL8	164714	broad.mit.edu	37	22	50479696	50479696	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50479696C>A	uc011ark.1	-	8	841	c.841G>T	c.(841-843)GGG>TGG	p.G281W		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)														---	---	---	---	capture		Missense_Mutation	SNP	50479696	50479696	17288	22	C	A	A	22	22	TTLL8	A	2	2
TUBGCP6	85378	broad.mit.edu	37	22	50662625	50662625	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50662625G>A	uc003bkb.1	-	13	2727	c.2215C>T	c.(2215-2217)CGA>TGA	p.R739*	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Nonsense_Mutation_p.R739*|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'UTR|TUBGCP6_uc003bkd.1_Nonsense_Mutation_p.R93*	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	739					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)														---	---	---	---	capture		Nonsense_Mutation	SNP	50662625	50662625	17325	22	G	A	A	39	39	TUBGCP6	A	5	1
BHLHE40	8553	broad.mit.edu	37	3	5023083	5023083	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:5023083G>T	uc003bqf.2	+	4	572	c.265G>T	c.(265-267)GGT>TGT	p.G89C	uc003bqe.1_5'Flank|uc010hce.1_5'Flank|BHLHE40_uc011asw.1_5'UTR	NM_003670	NP_003661	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	89	Helix-loop-helix motif.					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	5023083	5023083	1448	3	G	T	T	43	43	BHLHE40	T	2	2
GRIP2	80852	broad.mit.edu	37	3	14549198	14549198	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14549198T>A	uc011avi.1	-	19	2383	c.2383A>T	c.(2383-2385)ATC>TTC	p.I795F	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.I326F	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	697	PDZ 6.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	14549198	14549198	7067	3	T	A	A	51	51	GRIP2	A	4	4
RPL15	6138	broad.mit.edu	37	3	23960882	23960882	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:23960882C>A	uc003ccn.2	+	4	541	c.505C>A	c.(505-507)CGA>AGA	p.R169R	NKIRAS1_uc003cck.2_Intron|NKIRAS1_uc003ccj.2_5'Flank|NKIRAS1_uc003ccl.2_5'Flank|NKIRAS1_uc003ccm.2_5'Flank|RPL15_uc011awi.1_3'UTR|RPL15_uc011awj.1_Missense_Mutation_p.P113Q|RPL15_uc003cco.2_Intron|RPL15_uc003ccp.2_Silent_p.R169R|RPL15_uc003ccq.2_Silent_p.R169R|RPL15_uc003ccr.2_Silent_p.R169R	NM_002948	NP_002939	P61313	RL15_HUMAN	ribosomal protein L15	169					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	23960882	23960882	14041	3	C	A	A	23	23	RPL15	A	1	1
QRICH1	54870	broad.mit.edu	37	3	49094466	49094466	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49094466C>G	uc010hkq.2	-	4	1463	c.1167G>C	c.(1165-1167)ATG>ATC	p.M389I	QRICH1_uc003cvu.2_Missense_Mutation_p.M389I|QRICH1_uc003cvv.2_Missense_Mutation_p.M389I	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	389	Gln-rich.									ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)														---	---	---	---	capture		Missense_Mutation	SNP	49094466	49094466	13337	3	C	G	G	29	29	QRICH1	G	3	3
HYAL1	3373	broad.mit.edu	37	3	50338437	50338437	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50338437C>T	uc003czp.2	-	3	1104	c.972G>A	c.(970-972)TGG>TGA	p.W324*	HYAL3_uc003czc.1_5'Flank|HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czi.2_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Nonsense_Mutation_p.W142*|HYAL1_uc003czo.2_Nonsense_Mutation_p.W65*|HYAL1_uc003czq.2_Intron|HYAL1_uc003czr.2_Nonsense_Mutation_p.W324*|HYAL1_uc003czn.2_5'UTR|HYAL1_uc003czs.2_Nonsense_Mutation_p.W324*|HYAL1_uc003czt.2_Nonsense_Mutation_p.W324*	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	324						extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)													---	---	---	---	capture		Nonsense_Mutation	SNP	50338437	50338437	7763	3	C	T	T	22	22	HYAL1	T	5	2
DNAH12	201625	broad.mit.edu	37	3	57528591	57528591	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57528591C>G	uc003dit.2	-	2	188	c.7G>C	c.(7-9)GAT>CAT	p.D3H	DNAH12_uc003diu.2_Missense_Mutation_p.D3H	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	dynein heavy chain domain 2 isoform 1	3	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			pancreas(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	57528591	57528591	4782	3	C	G	G	32	32	DNAH12	G	3	3
PDZRN3	23024	broad.mit.edu	37	3	73437214	73437214	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73437214C>T	uc003dpl.1	-	8	1519	c.1423G>A	c.(1423-1425)GGG>AGG	p.G475R	PDZRN3_uc011bgh.1_Missense_Mutation_p.G132R|PDZRN3_uc010hoe.1_Missense_Mutation_p.G173R|PDZRN3_uc011bgf.1_Missense_Mutation_p.G192R|PDZRN3_uc011bgg.1_Missense_Mutation_p.G195R	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	475	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)														---	---	---	---	capture		Missense_Mutation	SNP	73437214	73437214	12130	3	C	T	T	21	21	PDZRN3	T	2	2
EPHA6	285220	broad.mit.edu	37	3	96533764	96533764	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:96533764A>T	uc010how.1	+	1	340	c.297A>T	c.(295-297)GAA>GAT	p.E99D	EPHA6_uc003drp.1_Missense_Mutation_p.E99D	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	5						integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16																		---	---	---	---	capture		Missense_Mutation	SNP	96533764	96533764	5364	3	A	T	T	3	3	EPHA6	T	4	4
OR5K3	403277	broad.mit.edu	37	3	98109533	98109533	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98109533G>C	uc011bgw.1	+	1	24	c.24G>C	c.(22-24)TTG>TTC	p.L8F		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	8	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	98109533	98109533	11578	3	G	C	C	45	45	OR5K3	C	3	3
TFG	10342	broad.mit.edu	37	3	100432536	100432536	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100432536G>T	uc003due.2	+	2	456	c.7G>T	c.(7-9)GGA>TGA	p.G3*	TFG_uc003duf.2_Nonsense_Mutation_p.G3*|TFG_uc003dug.2_Nonsense_Mutation_p.G3*|TFG_uc003duh.2_Nonsense_Mutation_p.G3*|TFG_uc003dui.2_Nonsense_Mutation_p.G3*	NM_006070	NP_006061	Q92734	TFG_HUMAN	TRK-fused	3					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/ALK(7)	haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11								T	NTRK1|ALK	papillary thyroid|ALCL|NSCLC								---	---	---	---	capture		Nonsense_Mutation	SNP	100432536	100432536	16334	3	G	T	T	39	39	TFG	T	5	1
IMPG2	50939	broad.mit.edu	37	3	100994577	100994577	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100994577C>T	uc003duq.1	-	6	799	c.596G>A	c.(595-597)AGT>AAT	p.S199N	IMPG2_uc011bhe.1_Missense_Mutation_p.S62N	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	199	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	100994577	100994577	8030	3	C	T	T	20	20	IMPG2	T	2	2
ILDR1	286676	broad.mit.edu	37	3	121712684	121712684	+	Silent	SNP	A	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121712684A>T	uc003ees.2	-	7	1018	c.912T>A	c.(910-912)CCT>CCA	p.P304P	ILDR1_uc003eeq.2_Silent_p.P272P|ILDR1_uc003eer.2_Silent_p.P260P|ILDR1_uc010hrg.2_Silent_p.P215P	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor	304	Cytoplasmic (Potential).					cytosol|integral to membrane|plasma membrane	receptor activity			skin(1)	1				GBM - Glioblastoma multiforme(114;0.156)														---	---	---	---	capture		Silent	SNP	121712684	121712684	8010	3	A	T	T	7	7	ILDR1	T	4	4
ADCY5	111	broad.mit.edu	37	3	123044199	123044199	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123044199G>T	uc003egh.1	-	8	2058	c.2058C>A	c.(2056-2058)GGC>GGA	p.G686G	ADCY5_uc003egg.1_Silent_p.G319G|ADCY5_uc003egi.1_Silent_p.G245G	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	686	Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)														---	---	---	---	capture		Silent	SNP	123044199	123044199	298	3	G	T	T	46	46	ADCY5	T	2	2
KBTBD12	166348	broad.mit.edu	37	3	127649097	127649097	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127649097C>G	uc010hsr.2	+	3	1466	c.1463C>G	c.(1462-1464)GCT>GGT	p.A488G	KBTBD12_uc003ejy.3_Missense_Mutation_p.A95G|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Missense_Mutation_p.A63G	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	kelch domain containing 6	488	Kelch 2.									ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	127649097	127649097	8296	3	C	G	G	28	28	KBTBD12	G	3	3
AGTR1	185	broad.mit.edu	37	3	148459737	148459737	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148459737G>T	uc003ewg.2	+	4	1361	c.915G>T	c.(913-915)CTG>CTT	p.L305L	AGTR1_uc003ewh.2_Silent_p.L305L|AGTR1_uc003ewi.2_Silent_p.L305L|AGTR1_uc003ewj.2_Silent_p.L305L|AGTR1_uc003ewk.2_Silent_p.L305L	NM_031850	NP_114038	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	305	Cytoplasmic (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)													---	---	---	---	capture		Silent	SNP	148459737	148459737	404	3	G	T	T	47	47	AGTR1	T	2	2
SI	6476	broad.mit.edu	37	3	164780248	164780248	+	Missense_Mutation	SNP	T	C	C	rs148454534		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164780248T>C	uc003fei.2	-	9	993	c.931A>G	c.(931-933)ATA>GTA	p.I311V		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	311	Lumenal.|Isomaltase.				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	164780248	164780248	14792	3	T	C	C	52	52	SI	C	4	4
SERPINI2	5276	broad.mit.edu	37	3	167189518	167189518	+	Silent	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167189518T>C	uc003fer.1	-	1	163	c.105A>G	c.(103-105)CAA>CAG	p.Q35Q	SERPINI2_uc003fes.1_Silent_p.Q45Q|SERPINI2_uc003fet.1_Silent_p.Q35Q	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	35					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3																		---	---	---	---	capture		Silent	SNP	167189518	167189518	14607	3	T	C	C	56	56	SERPINI2	C	4	4
PHC3	80012	broad.mit.edu	37	3	169846593	169846593	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169846593G>A	uc010hws.1	-	8	1695	c.1631C>T	c.(1630-1632)TCA>TTA	p.S544L	PHC3_uc003fgl.2_Missense_Mutation_p.S556L|PHC3_uc011bpq.1_Missense_Mutation_p.S503L|PHC3_uc011bpr.1_Missense_Mutation_p.S470L	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	polyhomeotic like 3	544	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)															---	---	---	---	capture		Missense_Mutation	SNP	169846593	169846593	12241	3	G	A	A	45	45	PHC3	A	2	2
FNDC3B	64778	broad.mit.edu	37	3	172028654	172028654	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172028654C>A	uc003fhy.2	+	11	1409	c.1237C>A	c.(1237-1239)CTT>ATT	p.L413I	FNDC3B_uc003fhz.3_Missense_Mutation_p.L413I|FNDC3B_uc003fia.2_Missense_Mutation_p.L344I	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	413	Fibronectin type-III 2.					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		Missense_Mutation	SNP	172028654	172028654	6212	3	C	A	A	24	24	FNDC3B	A	2	2
ECT2	1894	broad.mit.edu	37	3	172479422	172479422	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172479422C>A	uc003fii.2	+	7	752	c.614C>A	c.(613-615)CCA>CAA	p.P205Q	ECT2_uc010hwv.1_Missense_Mutation_p.P236Q|ECT2_uc003fih.2_Missense_Mutation_p.P204Q|ECT2_uc003fij.1_Missense_Mutation_p.P205Q|ECT2_uc003fik.1_Missense_Mutation_p.P205Q|ECT2_uc003fil.1_Missense_Mutation_p.P236Q	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	205	BRCT 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)															---	---	---	---	capture		Missense_Mutation	SNP	172479422	172479422	5088	3	C	A	A	21	21	ECT2	A	2	2
NLGN1	22871	broad.mit.edu	37	3	173998368	173998368	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:173998368C>A	uc003fio.1	+	7	2170	c.1747C>A	c.(1747-1749)CAA>AAA	p.Q583K	NLGN1_uc003fip.1_Missense_Mutation_p.Q583K	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	600	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)															---	---	---	---	capture		Missense_Mutation	SNP	173998368	173998368	10864	3	C	A	A	21	21	NLGN1	A	2	2
PSMD2	5708	broad.mit.edu	37	3	184020467	184020467	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184020467G>T	uc003fnn.1	+	7	897	c.864G>T	c.(862-864)GTG>GTT	p.V288V	PSMD2_uc011brj.1_Silent_p.V129V|PSMD2_uc011brk.1_Silent_p.V158V	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	288					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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)													---	---	---	---	capture		Silent	SNP	184020467	184020467	13151	3	G	T	T	43	43	PSMD2	T	2	2
PCDH7	5099	broad.mit.edu	37	4	31144416	31144416	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:31144416G>T	uc011bxx.1	+	3	4697	c.3689G>T	c.(3688-3690)GGG>GTG	p.G1230V	PCDH7_uc011bxw.1_Missense_Mutation_p.G1183V	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	Error:Variant_position_missing_in_O60245_after_alignment					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	31144416	31144416	11936	4	G	T	T	43	43	PCDH7	T	2	2
KLF3	51274	broad.mit.edu	37	4	38691456	38691456	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38691456C>T	uc003gth.3	+	4	983	c.651C>T	c.(649-651)CCC>CCT	p.P217P	KLF3_uc003gtg.2_Silent_p.P217P	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	217	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2																		---	---	---	---	capture		Silent	SNP	38691456	38691456	8659	4	C	T	T	22	22	KLF3	T	2	2
PDS5A	23244	broad.mit.edu	37	4	39839563	39839563	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39839563C>A	uc003guv.3	-	32	4463	c.3923G>T	c.(3922-3924)GGT>GTT	p.G1308V	PDS5A_uc010ifo.2_Missense_Mutation_p.G1268V	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1308					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	39839563	39839563	12112	4	C	A	A	18	18	PDS5A	A	2	2
CORIN	10699	broad.mit.edu	37	4	47746482	47746482	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47746482G>T	uc003gxm.2	-	5	829	c.736C>A	c.(736-738)CAA>AAA	p.Q246K	CORIN_uc011bzf.1_Missense_Mutation_p.Q107K|CORIN_uc011bzg.1_Missense_Mutation_p.Q179K|CORIN_uc011bzh.1_Missense_Mutation_p.Q246K|CORIN_uc011bzi.1_Missense_Mutation_p.Q246K|CORIN_uc003gxn.3_Missense_Mutation_p.Q246K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	246	Extracellular (Potential).|FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	47746482	47746482	3890	4	G	T	T	47	47	CORIN	T	2	2
AREG	374	broad.mit.edu	37	4	75312497	75312497	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:75312497G>T	uc011cbl.1	+	2	518	c.308G>T	c.(307-309)AGA>ATA	p.R103I		NM_001657	NP_001648	P15514	AREG_HUMAN	amphiregulin preproprotein	103					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity				0			Lung(101;0.196)															---	---	---	---	capture		Missense_Mutation	SNP	75312497	75312497	854	4	G	T	T	33	33	AREG	T	2	2
MTTP	4547	broad.mit.edu	37	4	100504545	100504545	+	Silent	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100504545T>C	uc003hvc.3	+	4	520	c.264T>C	c.(262-264)AAT>AAC	p.N88N	MTTP_uc011cej.1_Silent_p.N115N|MTTP_uc003hvb.2_Silent_p.N88N	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	88	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)													---	---	---	---	capture		Silent	SNP	100504545	100504545	10357	4	T	C	C	51	51	MTTP	C	4	4
DKK2	27123	broad.mit.edu	37	4	107847083	107847083	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:107847083C>A	uc003hyi.2	-	2	951	c.246G>T	c.(244-246)AAG>AAT	p.K82N	DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.K82N	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	82	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)														---	---	---	---	capture		Missense_Mutation	SNP	107847083	107847083	4725	4	C	A	A	24	24	DKK2	A	2	2
QRFPR	84109	broad.mit.edu	37	4	122261669	122261669	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122261669C>T	uc010inj.1	-	2	816	c.437G>A	c.(436-438)GGA>GAA	p.G146E	QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.G146E|QRFPR_uc010inl.1_Missense_Mutation_p.G146E	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	146	Cytoplasmic (Potential).					plasma membrane	neuropeptide Y receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	122261669	122261669	13336	4	C	T	T	30	30	QRFPR	T	2	2
FBXW7	55294	broad.mit.edu	37	4	153245437	153245437	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:153245437C>G	uc003ims.2	-	11	1903	c.1754G>C	c.(1753-1755)AGT>ACT	p.S585T	FBXW7_uc011cii.1_Missense_Mutation_p.S585T|FBXW7_uc003imt.2_Missense_Mutation_p.S585T|FBXW7_uc011cih.1_Missense_Mutation_p.S409T|FBXW7_uc003imq.2_Missense_Mutation_p.S505T|FBXW7_uc003imr.2_Missense_Mutation_p.S467T	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	585	WD 6.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)						Mis|N|D|F		colorectal|endometrial|T-ALL								---	---	---	---	capture		Missense_Mutation	SNP	153245437	153245437	6006	4	C	G	G	20	20	FBXW7	G	3	3
WDR17	116966	broad.mit.edu	37	4	177052851	177052851	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177052851G>T	uc003iuj.2	+	8	1288	c.1132G>T	c.(1132-1134)GAT>TAT	p.D378Y	WDR17_uc003iuk.2_Missense_Mutation_p.D354Y|WDR17_uc003ium.3_Missense_Mutation_p.D354Y|WDR17_uc003iul.1_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	378										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)														---	---	---	---	capture		Missense_Mutation	SNP	177052851	177052851	17850	4	G	T	T	45	45	WDR17	T	2	2
SNX25	83891	broad.mit.edu	37	4	186263206	186263206	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186263206C>G	uc003ixh.2	+	12	1820	c.1631C>G	c.(1630-1632)ACT>AGT	p.T544S	SNX25_uc010ish.2_Missense_Mutation_p.T315S|SNX25_uc003ixi.2_Missense_Mutation_p.T48S	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	sorting nexin 25	544	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			ovary(2)|breast(2)|pancreas(1)	5		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)														---	---	---	---	capture		Missense_Mutation	SNP	186263206	186263206	15396	4	C	G	G	20	20	SNX25	G	3	3
SLC6A18	348932	broad.mit.edu	37	5	1232344	1232344	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1232344C>T	uc003jby.1	+	2	294	c.171C>T	c.(169-171)CTC>CTT	p.L57L		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	solute carrier family 6, member 18	57	Helical; Name=2; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)															---	---	---	---	capture		Silent	SNP	1232344	1232344	15178	5	C	T	T	29	29	SLC6A18	T	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33527362	33527362	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33527362G>T	uc003jia.1	-	24	4879	c.4716C>A	c.(4714-4716)CCC>CCA	p.P1572P	ADAMTS12_uc010iuq.1_Silent_p.P1487P	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1572	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9															HNSCC(64;0.19)			---	---	---	---	capture		Silent	SNP	33527362	33527362	258	5	G	T	T	43	43	ADAMTS12	T	2	2
CARD6	84674	broad.mit.edu	37	5	40852313	40852313	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40852313G>C	uc003jmg.2	+	3	954	c.879G>C	c.(877-879)TTG>TTC	p.L293F		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	293					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	40852313	40852313	2769	5	G	C	C	45	45	CARD6	C	3	3
C7	730	broad.mit.edu	37	5	40964946	40964946	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40964946G>T	uc003jmh.2	+	14	1967	c.1853G>T	c.(1852-1854)CGG>CTG	p.R618L	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	618	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)																---	---	---	---	capture		Missense_Mutation	SNP	40964946	40964946	2482	5	G	T	T	39	39	C7	T	1	1
BDP1	55814	broad.mit.edu	37	5	70835476	70835476	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70835476G>T	uc003kbp.1	+	28	6285	c.6022G>T	c.(6022-6024)GTA>TTA	p.V2008L	BDP1_uc003kbo.2_Missense_Mutation_p.V2008L|BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_Intron	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2008					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---	capture		Missense_Mutation	SNP	70835476	70835476	1417	5	G	T	T	47	47	BDP1	T	2	2
BDP1	55814	broad.mit.edu	37	5	70855849	70855849	+	Silent	SNP	A	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70855849A>C	uc003kbp.1	+	37	7544	c.7281A>C	c.(7279-7281)GGA>GGC	p.G2427G	BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2427					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---	capture		Silent	SNP	70855849	70855849	1417	5	A	C	C	9	9	BDP1	C	4	4
MRPS27	23107	broad.mit.edu	37	5	71521968	71521968	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:71521968C>T	uc003kbz.3	-	9	789	c.753G>A	c.(751-753)TGG>TGA	p.W251*	MRPS27_uc003kca.3_Nonsense_Mutation_p.W195*|MRPS27_uc011cse.1_Nonsense_Mutation_p.W265*|MRPS27_uc011csd.1_Nonsense_Mutation_p.W32*|MRPS27_uc010iyz.1_RNA	NM_015084	NP_055899	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	251						mitochondrion|ribosome					0		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)														---	---	---	---	capture		Nonsense_Mutation	SNP	71521968	71521968	10231	5	C	T	T	30	30	MRPS27	T	5	2
HMGCR	3156	broad.mit.edu	37	5	74654482	74654482	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74654482G>T	uc003kdp.2	+	16	2143	c.1987G>T	c.(1987-1989)GGT>TGT	p.G663C	HMGCR_uc011cst.1_Missense_Mutation_p.G683C|HMGCR_uc003kdq.2_Missense_Mutation_p.G610C|HMGCR_uc010izo.2_5'UTR|HMGCR_uc010izp.2_5'UTR	NM_000859	NP_000850	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-Coenzyme A reductase	663	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			ovary(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)													---	---	---	---	capture		Missense_Mutation	SNP	74654482	74654482	7522	5	G	T	T	43	43	HMGCR	T	2	2
DMGDH	29958	broad.mit.edu	37	5	78350026	78350026	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78350026G>T	uc003kfs.2	-	4	527	c.521C>A	c.(520-522)CCT>CAT	p.P174H	DMGDH_uc011cte.1_Missense_Mutation_p.P24H|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase precursor	174					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			ovary(2)|liver(1)|skin(1)	4		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)														---	---	---	---	capture		Missense_Mutation	SNP	78350026	78350026	4761	5	G	T	T	35	35	DMGDH	T	2	2
BHMT	635	broad.mit.edu	37	5	78423633	78423633	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78423633C>A	uc003kfu.3	+	7	969	c.864C>A	c.(862-864)GCC>GCA	p.A288A	BHMT_uc011cti.1_Silent_p.A135A	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	betaine-homocysteine methyltransferase	288	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)													---	---	---	---	capture		Silent	SNP	78423633	78423633	1450	5	C	A	A	24	24	BHMT	A	2	2
HAPLN1	1404	broad.mit.edu	37	5	82948608	82948608	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:82948608G>T	uc003kim.2	-	2	207	c.136C>A	c.(136-138)CAA>AAA	p.Q46K	HAPLN1_uc003kin.2_Missense_Mutation_p.Q46K	NM_001884	NP_001875	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	46	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			large_intestine(3)|ovary(1)|skin(1)	5		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)														---	---	---	---	capture		Missense_Mutation	SNP	82948608	82948608	7236	5	G	T	T	46	46	HAPLN1	T	2	2
PPIP5K2	23262	broad.mit.edu	37	5	102513644	102513644	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102513644T>C	uc003kod.3	+	23	3236	c.2717T>C	c.(2716-2718)TTG>TCG	p.L906S	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.L906S|PPIP5K2_uc003kof.2_Missense_Mutation_p.L207S	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	906					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	102513644	102513644	12768	5	T	C	C	63	63	PPIP5K2	C	4	4
ADAMTS19	171019	broad.mit.edu	37	5	129015459	129015459	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:129015459C>A	uc003kvb.1	+	17	2491	c.2491C>A	c.(2491-2493)CTC>ATC	p.L831I	ADAMTS19_uc010jdh.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	831	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)														---	---	---	---	capture		Missense_Mutation	SNP	129015459	129015459	265	5	C	A	A	32	32	ADAMTS19	A	2	2
REEP2	51308	broad.mit.edu	37	5	137780462	137780462	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137780462C>T	uc003lcz.2	+	5	445	c.323C>T	c.(322-324)ACG>ATG	p.T108M	REEP2_uc003lda.2_Missense_Mutation_p.T108M|REEP2_uc011cyt.1_Missense_Mutation_p.T69M	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	108						integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---	capture		Missense_Mutation	SNP	137780462	137780462	13674	5	C	T	T	19	19	REEP2	T	1	1
PCDHB10	56126	broad.mit.edu	37	5	140572150	140572150	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140572150C>A	uc003lix.2	+	1	199	c.25C>A	c.(25-27)CCA>ACA	p.P9T		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	9					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Missense_Mutation	SNP	140572150	140572150	11955	5	C	A	A	22	22	PCDHB10	A	2	2
PCDHGA9	56107	broad.mit.edu	37	5	140784058	140784058	+	Silent	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140784058G>C	uc003lkh.1	+	1	1539	c.1539G>C	c.(1537-1539)GTG>GTC	p.V513V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.V513V	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	513	Extracellular (Potential).|Cadherin 5.				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		Silent	SNP	140784058	140784058	11981	5	G	C	C	46	46	PCDHGA9	C	3	3
PCDHGC5	56097	broad.mit.edu	37	5	140870258	140870258	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140870258G>T	uc003lla.1	+	1	1451	c.1451G>T	c.(1450-1452)GGG>GTG	p.G484V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.G484V	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	484	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140870258	140870258	11991	5	G	T	T	43	43	PCDHGC5	T	2	2
PLAC8L1	153770	broad.mit.edu	37	5	145465043	145465043	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145465043C>A	uc003lnv.2	-	3	446	c.374G>T	c.(373-375)AGG>ATG	p.R125M	PLAC8L1_uc011dbp.1_RNA	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	125											0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---	capture		Missense_Mutation	SNP	145465043	145465043	12442	5	C	A	A	24	24	PLAC8L1	A	2	2
PDE6A	5145	broad.mit.edu	37	5	149276332	149276332	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149276332C>A	uc003lrg.3	-	11	1535	c.1415G>T	c.(1414-1416)AGA>ATA	p.R472I		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	472					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)															---	---	---	---	capture		Missense_Mutation	SNP	149276332	149276332	12066	5	C	A	A	32	32	PDE6A	A	2	2
HMMR	3161	broad.mit.edu	37	5	162910151	162910151	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:162910151G>C	uc003lzf.2	+	14	1837	c.1655G>C	c.(1654-1656)AGA>ACA	p.R552T	HMMR_uc003lzh.2_Missense_Mutation_p.R553T|HMMR_uc003lzg.2_Missense_Mutation_p.R537T|HMMR_uc011dem.1_Missense_Mutation_p.R466T|uc003lzi.2_RNA	NM_012484	NP_036616	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor isoform b	552						cell surface|cytoplasm	hyaluronic acid binding				0	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)														---	---	---	---	capture		Missense_Mutation	SNP	162910151	162910151	7534	5	G	C	C	33	33	HMMR	C	3	3
SLC22A23	63027	broad.mit.edu	37	6	3287237	3287237	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3287237C>T	uc003mvm.3	-	7	1402	c.1402G>A	c.(1402-1404)GAC>AAC	p.D468N	uc003mvi.1_RNA|SLC22A23_uc003mvn.3_Missense_Mutation_p.D187N|SLC22A23_uc003mvo.3_Missense_Mutation_p.D187N|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Missense_Mutation_p.D468N|SLC22A23_uc003mvq.1_RNA	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	468	Helical; (Potential).				ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)																---	---	---	---	capture		Missense_Mutation	SNP	3287237	3287237	14949	6	C	T	T	29	29	SLC22A23	T	2	2
HIST1H4H	8365	broad.mit.edu	37	6	26285637	26285637	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26285637T>C	uc003nhm.2	-	1	91	c.91A>G	c.(91-93)ACT>GCT	p.T31A	HIST1H4H_uc003nhl.1_RNA	NM_003543	NP_003534	P62805	H4_HUMAN	histone cluster 1, H4h	31					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2															HNSCC(76;0.23)			---	---	---	---	capture		Missense_Mutation	SNP	26285637	26285637	7457	6	T	C	C	59	59	HIST1H4H	C	4	4
HIST1H4I	8294	broad.mit.edu	37	6	27107140	27107140	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27107140G>T	uc003niy.1	+	1	53	c.53G>T	c.(52-54)CGC>CTC	p.R18L	HIST1H2BK_uc003nix.1_Intron	NM_003495	NP_003486	P62805	H4_HUMAN	histone cluster 1, H4i	18					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1								T	BCL6	NHL								---	---	---	---	capture		Missense_Mutation	SNP	27107140	27107140	7458	6	G	T	T	38	38	HIST1H4I	T	1	1
ZNF192	7745	broad.mit.edu	37	6	28121095	28121095	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28121095G>T	uc003nkn.1	+	6	1221	c.1037G>T	c.(1036-1038)GGG>GTG	p.G346V	ZNF192_uc010jqx.1_Missense_Mutation_p.G346V|ZNF192_uc010jqy.1_Missense_Mutation_p.G159V|ZNF192_uc011dkz.1_Missense_Mutation_p.G159V	NM_006298	NP_006289	Q15776	ZN192_HUMAN	zinc finger protein 192	346					viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	28121095	28121095	18347	6	G	T	T	43	43	ZNF192	T	2	2
CDSN	1041	broad.mit.edu	37	6	31084839	31084839	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31084839C>A	uc003nsm.1	-	2	580	c.553G>T	c.(553-555)GGA>TGA	p.G185*	PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin precursor	185	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	31084839	31084839	3308	6	C	A	A	23	23	CDSN	A	5	1
BAT1	7919	broad.mit.edu	37	6	31507020	31507020	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31507020C>A	uc003ntt.2	-	3	874	c.243G>T	c.(241-243)CTG>CTT	p.L81L	BAT1_uc003nts.2_Silent_p.L81L|BAT1_uc011dnn.1_Intron|BAT1_uc003ntu.2_Silent_p.L81L|BAT1_uc003ntv.2_Silent_p.L81L|BAT1_uc003ntw.2_Silent_p.L81L|BAT1_uc003ntx.2_Silent_p.L81L|BAT1_uc011dno.1_Intron|BAT1_uc011dnp.1_Intron|SNORD117_uc003nty.1_5'Flank|BAT1_uc011dnq.1_RNA	NM_004640	NP_004631	Q13838	DX39B_HUMAN	HLA-B associated transcript 1	81	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding				0																		---	---	---	---	capture		Silent	SNP	31507020	31507020	1339	6	C	A	A	21	21	BAT1	A	2	2
BAT4	7918	broad.mit.edu	37	6	31630476	31630476	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31630476G>T	uc003nvn.2	-	3	1283	c.638C>A	c.(637-639)CCC>CAC	p.P213H	C6orf47_uc003nvm.1_5'Flank|BAT4_uc003nvo.3_Missense_Mutation_p.P213H|BAT4_uc003nvp.3_Missense_Mutation_p.P213H|BAT4_uc003nvq.2_Missense_Mutation_p.P213H	NM_033177	NP_149417	O95872	GPAN1_HUMAN	HLA-B associated transcript 4	213						intracellular	nucleic acid binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	31630476	31630476	1344	6	G	T	T	43	43	BAT4	T	2	2
MSH5	4439	broad.mit.edu	37	6	31721156	31721156	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31721156C>A	uc003nwv.1	+	11	970	c.891C>A	c.(889-891)CCC>CCA	p.P297P	MSH5_uc003nwt.1_Silent_p.P314P|MSH5_uc003nwu.1_Silent_p.P297P|MSH5_uc003nww.1_Silent_p.P297P|MSH5_uc003nwx.1_Silent_p.P314P|MSH5_uc011dof.1_5'UTR|MSH5_uc003nwy.1_5'Flank	NM_172166	NP_751898	O43196	MSH5_HUMAN	mutS homolog 5 isoform c	297					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			ovary(2)|breast(1)	3													Direct_reversal_of_damage|MMR					---	---	---	---	capture		Silent	SNP	31721156	31721156	10266	6	C	A	A	22	22	MSH5	A	2	2
EHMT2	10919	broad.mit.edu	37	6	31864517	31864517	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31864517G>T	uc003nxz.1	-	3	204	c.194C>A	c.(193-195)TCA>TAA	p.S65*	EHMT2_uc003nxy.1_5'UTR|EHMT2_uc011don.1_Nonsense_Mutation_p.S122*|EHMT2_uc003nya.1_Nonsense_Mutation_p.S65*|EHMT2_uc003nyb.1_Nonsense_Mutation_p.S65*|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	65					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	31864517	31864517	5173	6	G	T	T	45	45	EHMT2	T	5	2
SKIV2L	6499	broad.mit.edu	37	6	31937152	31937152	+	Silent	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31937152G>A	uc003nyn.1	+	27	3884	c.3495G>A	c.(3493-3495)CTG>CTA	p.L1165L	SKIV2L_uc011dou.1_Silent_p.L1007L|SKIV2L_uc011dov.1_Silent_p.L972L|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	1165						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4																		---	---	---	---	capture		Silent	SNP	31937152	31937152	14854	6	G	A	A	45	45	SKIV2L	A	2	2
ATF6B	1388	broad.mit.edu	37	6	32085122	32085122	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32085122G>T	uc003nzn.2	-	14	1625	c.1592C>A	c.(1591-1593)CCT>CAT	p.P531H	TNXB_uc010jts.1_5'UTR|ATF6B_uc003nzm.1_Missense_Mutation_p.P104H|ATF6B_uc003nzo.2_Missense_Mutation_p.P528H|ATF6B_uc003nzp.1_Missense_Mutation_p.P220H	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	531	Lumenal (Potential).				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	32085122	32085122	1104	6	G	T	T	35	35	ATF6B	T	2	2
AGER	177	broad.mit.edu	37	6	32149210	32149210	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32149210C>A	uc003oal.1	-	10	1060	c.1036G>T	c.(1036-1038)GGG>TGG	p.G346W	AGER_uc003oak.1_Missense_Mutation_p.G75W|AGER_uc003oar.2_Missense_Mutation_p.G245W|AGER_uc011dpm.1_Missense_Mutation_p.G236W|AGER_uc011dpn.1_Intron|AGER_uc010jtv.1_Intron|AGER_uc011dpo.1_Intron|AGER_uc003oam.1_RNA|AGER_uc003oan.1_Missense_Mutation_p.G294V|AGER_uc003oap.1_Missense_Mutation_p.G362W|AGER_uc003oat.1_Intron|AGER_uc003oao.1_RNA|AGER_uc003oaq.1_Missense_Mutation_p.G332W|AGER_uc010jtw.1_RNA|AGER_uc003oas.1_Intron|AGER_uc003oau.1_Intron	NM_001136	NP_001127	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific	346	Helical; (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	32149210	32149210	382	6	C	A	A	22	22	AGER	A	2	2
PSMB9	5698	broad.mit.edu	37	6	32827218	32827218	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32827218G>T	uc003sga.2	+	7	608	c.533G>T	c.(532-534)GGG>GTG	p.G178V		NM_148954	NP_683756	P28065	PSB9_HUMAN	proteasome beta 9 subunit isoform 2 proprotein	190					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	threonine-type endopeptidase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	32827218	32827218	13137	6	G	T	T	43	43	PSMB9	T	2	2
RGL2	5863	broad.mit.edu	37	6	33262491	33262491	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33262491C>G	uc003odv.2	-	11	1460	c.1327G>C	c.(1327-1329)GAT>CAT	p.D443H	RGL2_uc003odu.2_Missense_Mutation_p.D3H|RGL2_uc010jur.2_Missense_Mutation_p.D3H|RGL2_uc003odw.2_Missense_Mutation_p.D361H|RGL2_uc011drb.1_Missense_Mutation_p.D361H	NM_004761	NP_004752	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation	443	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			skin(3)|lung(1)|breast(1)|pancreas(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	33262491	33262491	13750	6	C	G	G	30	30	RGL2	G	3	3
KIF6	221458	broad.mit.edu	37	6	39330271	39330271	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39330271G>A	uc003oot.2	-	17	1980	c.1885C>T	c.(1885-1887)CCT>TCT	p.P629S	KIF6_uc003oos.2_Missense_Mutation_p.P80S|KIF6_uc010jwz.1_Missense_Mutation_p.P4S|KIF6_uc010jxa.1_Missense_Mutation_p.P420S|KIF6_uc011dua.1_Missense_Mutation_p.P612S|KIF6_uc010jxb.1_Missense_Mutation_p.P573S	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	629	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3																OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	39330271	39330271	8619	6	G	A	A	42	42	KIF6	A	2	2
GPR116	221395	broad.mit.edu	37	6	46847578	46847578	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46847578T>C	uc003oyo.3	-	9	1302	c.1013A>G	c.(1012-1014)CAC>CGC	p.H338R	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.H338R|GPR116_uc010jzi.1_Missense_Mutation_p.H10R|GPR116_uc003oyr.2_Missense_Mutation_p.H338R	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	338	Ig-like 1.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---	capture		Missense_Mutation	SNP	46847578	46847578	6907	6	T	C	C	59	59	GPR116	C	4	4
TFAP2B	7021	broad.mit.edu	37	6	50791271	50791271	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:50791271C>A	uc003pag.2	+	2	399	c.233C>A	c.(232-234)CCC>CAC	p.P78H		NM_003221	NP_003212	Q92481	AP2B_HUMAN	transcription factor AP-2 beta	78	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0	Lung NSC(77;0.156)																	---	---	---	---	capture		Missense_Mutation	SNP	50791271	50791271	16316	6	C	A	A	22	22	TFAP2B	A	2	2
PAQR8	85315	broad.mit.edu	37	6	52268164	52268164	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52268164C>T	uc003pao.3	+	2	327	c.153C>T	c.(151-153)ATC>ATT	p.I51I		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	51	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)																	---	---	---	---	capture		Silent	SNP	52268164	52268164	11858	6	C	T	T	30	30	PAQR8	T	2	2
C6orf167	253714	broad.mit.edu	37	6	97676876	97676876	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:97676876G>A	uc003ppb.2	-	14	2199	c.1933C>T	c.(1933-1935)CAT>TAT	p.H645Y	C6orf167_uc011eaf.1_Missense_Mutation_p.H605Y	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	645					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)														---	---	---	---	capture		Missense_Mutation	SNP	97676876	97676876	2447	6	G	A	A	47	47	C6orf167	A	2	2
MCHR2	84539	broad.mit.edu	37	6	100390823	100390823	+	Splice_Site	SNP	A	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100390823A>C	uc003pqh.1	-	4	902	c.587_splice	c.e4+1	p.W196_splice	MCHR2_uc003pqi.1_Splice_Site_p.W196_splice	NM_001040179	NP_001035269			melanin-concentrating hormone receptor 2							integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)														---	---	---	---	capture		Splice_Site	SNP	100390823	100390823	9772	6	A	C	C	14	14	MCHR2	C	5	4
SIM1	6492	broad.mit.edu	37	6	100838803	100838803	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100838803C>A	uc003pqj.3	-	11	1942	c.1735G>T	c.(1735-1737)GAG>TAG	p.E579*	SIM1_uc010kcu.2_Nonsense_Mutation_p.E579*	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	579	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E579D(1)		ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)														---	---	---	---	capture		Nonsense_Mutation	SNP	100838803	100838803	14818	6	C	A	A	32	32	SIM1	A	5	2
LAMA4	3910	broad.mit.edu	37	6	112506499	112506499	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112506499G>C	uc003pvu.2	-	9	1326	c.1017C>G	c.(1015-1017)ATC>ATG	p.I339M	LAMA4_uc003pvv.2_Missense_Mutation_p.I332M|LAMA4_uc003pvt.2_Missense_Mutation_p.I332M	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	339	Potential.|Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)														---	---	---	---	capture		Missense_Mutation	SNP	112506499	112506499	8931	6	G	C	C	45	45	LAMA4	C	3	3
ROS1	6098	broad.mit.edu	37	6	117681035	117681035	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117681035C>A	uc003pxp.1	-	23	3784	c.3585G>T	c.(3583-3585)ATG>ATT	p.M1195I	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	1195	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)				T	GOPC|ROS1	glioblastoma|NSCLC								---	---	---	---	capture		Missense_Mutation	SNP	117681035	117681035	14010	6	C	A	A	21	21	ROS1	A	2	2
ROS1	6098	broad.mit.edu	37	6	117707019	117707019	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117707019C>T	uc003pxp.1	-	15	2330	c.2131G>A	c.(2131-2133)GAT>AAT	p.D711N	ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	proto-oncogene c-ros-1 protein precursor	711	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)				T	GOPC|ROS1	glioblastoma|NSCLC								---	---	---	---	capture		Missense_Mutation	SNP	117707019	117707019	14010	6	C	T	T	30	30	ROS1	T	2	2
GPR126	57211	broad.mit.edu	37	6	142764490	142764490	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142764490C>T	uc010khc.2	+	26	4048	c.3637C>T	c.(3637-3639)CAA>TAA	p.Q1213*	GPR126_uc010khd.2_Nonsense_Mutation_p.Q1185*|GPR126_uc010khe.2_Silent_p.D1197D|GPR126_uc010khf.2_Silent_p.D1169D|GPR126_uc011edv.1_Silent_p.D257D	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	1213	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)														---	---	---	---	capture		Nonsense_Mutation	SNP	142764490	142764490	6914	6	C	T	T	17	17	GPR126	T	5	2
HIVEP2	3097	broad.mit.edu	37	6	143090845	143090845	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:143090845G>T	uc003qjd.2	-	5	5774	c.5031C>A	c.(5029-5031)TCC>TCA	p.S1677S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1677					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)														---	---	---	---	capture		Silent	SNP	143090845	143090845	7478	6	G	T	T	35	35	HIVEP2	T	2	2
ARID1B	57492	broad.mit.edu	37	6	157528347	157528347	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157528347G>T	uc003qqn.2	+	20	6170	c.6018G>T	c.(6016-6018)ACG>ACT	p.T2006T	ARID1B_uc003qqo.2_Silent_p.T1966T|ARID1B_uc003qqp.2_Silent_p.T1953T	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2011					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		Silent	SNP	157528347	157528347	929	6	G	T	T	40	40	ARID1B	T	1	1
C6orf35	729515	broad.mit.edu	37	6	157743751	157743751	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157743751C>G	uc003sih.3	-	2	438	c.175G>C	c.(175-177)GAA>CAA	p.E59Q		NM_018452	NP_060922	Q9NWH2	CF035_HUMAN	hypothetical protein LOC729515	59						integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	157743751	157743751	2468	6	C	G	G	29	29	C6orf35	G	3	3
MAS1	4142	broad.mit.edu	37	6	160328351	160328351	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160328351C>T	uc003qsz.2	+	1	378	c.364C>T	c.(364-366)CTG>TTG	p.L122L		NM_002377	NP_002368	P04201	MAS_HUMAN	MAS1 oncogene	122	Helical; Name=3; (Potential).				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			ovary(2)|lung(2)	4		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)														---	---	---	---	capture		Silent	SNP	160328351	160328351	9704	6	C	T	T	32	32	MAS1	T	2	2
SMOC2	64094	broad.mit.edu	37	6	169053880	169053880	+	Missense_Mutation	SNP	C	G	G	rs151010390		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:169053880C>G	uc003qws.1	+	11	1277	c.1257C>G	c.(1255-1257)GAC>GAG	p.D419E	SMOC2_uc003qwr.1_Missense_Mutation_p.D430E|SMOC2_uc011egu.1_Missense_Mutation_p.D96E	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	419	EF-hand 2.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)														---	---	---	---	capture		Missense_Mutation	SNP	169053880	169053880	15302	6	C	G	G	19	19	SMOC2	G	3	3
ANKMY2	57037	broad.mit.edu	37	7	16644386	16644386	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:16644386C>A	uc003sti.2	-	8	1171	c.971G>T	c.(970-972)GGA>GTA	p.G324V	ANKMY2_uc010ktz.2_RNA	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	324	MYND-type.					cilium	zinc ion binding			central_nervous_system(1)	1	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)														---	---	---	---	capture		Missense_Mutation	SNP	16644386	16644386	638	7	C	A	A	30	30	ANKMY2	A	2	2
DNAH11	8701	broad.mit.edu	37	7	21721271	21721271	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21721271G>T	uc003svc.2	+	31	5482	c.5451G>T	c.(5449-5451)GTG>GTT	p.V1817V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1817	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		Silent	SNP	21721271	21721271	4781	7	G	T	T	47	47	DNAH11	T	2	2
DNAH11	8701	broad.mit.edu	37	7	21805045	21805045	+	Splice_Site	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21805045G>T	uc003svc.2	+	56	8993	c.8962_splice	c.e56-1	p.I2988_splice		NM_003777	NP_003768			dynein, axonemal, heavy chain 11						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		Splice_Site	SNP	21805045	21805045	4781	7	G	T	T	33	33	DNAH11	T	5	2
ADCY1	107	broad.mit.edu	37	7	45649987	45649987	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45649987C>A	uc003tne.3	+	3	817	c.799C>A	c.(799-801)CTC>ATC	p.L267I	ADCY1_uc003tnd.2_Missense_Mutation_p.L42I	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	267	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---	capture		Missense_Mutation	SNP	45649987	45649987	293	7	C	A	A	24	24	ADCY1	A	2	2
SBDS	51119	broad.mit.edu	37	7	66453478	66453478	+	Silent	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:66453478C>G	uc003tvm.1	-	5	817	c.633G>C	c.(631-633)CTG>CTC	p.L211L		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	211					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			ovary(1)	1								Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome				---	---	---	---	capture		Silent	SNP	66453478	66453478	14338	7	C	G	G	29	29	SBDS	G	3	3
STYXL1	51657	broad.mit.edu	37	7	75634626	75634626	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75634626C>T	uc003uej.3	-	6	723	c.550G>A	c.(550-552)GAC>AAC	p.D184N	STYXL1_uc003uef.2_5'UTR|STYXL1_uc011kgf.1_Missense_Mutation_p.D46N|STYXL1_uc011kgg.1_Missense_Mutation_p.D36N|STYXL1_uc003ueh.2_Missense_Mutation_p.D46N|STYXL1_uc003uek.3_Missense_Mutation_p.D88N|STYXL1_uc003uel.2_Missense_Mutation_p.D184N|STYXL1_uc003uem.2_Missense_Mutation_p.D184N|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.D184N|STYXL1_uc003uen.1_Missense_Mutation_p.D184N	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	184	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	75634626	75634626	15881	7	C	T	T	30	30	STYXL1	T	2	2
SEMA3E	9723	broad.mit.edu	37	7	82997159	82997159	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82997159G>A	uc003uhy.1	-	17	2537	c.2071C>T	c.(2071-2073)CAT>TAT	p.H691Y		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	691					axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)																---	---	---	---	capture		Missense_Mutation	SNP	82997159	82997159	14514	7	G	A	A	46	46	SEMA3E	A	2	2
GRM3	2913	broad.mit.edu	37	7	86468972	86468972	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86468972C>T	uc003uid.2	+	4	3241	c.2142C>T	c.(2140-2142)ACC>ACT	p.T714T	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Silent_p.T586T|GRM3_uc010leh.2_Silent_p.T306T	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	714	Extracellular (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		Silent	SNP	86468972	86468972	7077	7	C	T	T	21	21	GRM3	T	2	2
RUNDC3B	154661	broad.mit.edu	37	7	87459208	87459208	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87459208G>A	uc003ujb.2	+	12	1696	c.1285G>A	c.(1285-1287)GAT>AAT	p.D429N	RUNDC3B_uc011khe.1_Missense_Mutation_p.D412N|RUNDC3B_uc003ujc.2_Missense_Mutation_p.D363N|RUNDC3B_uc003ujd.2_Missense_Mutation_p.D285N	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	429										skin(1)	1	Esophageal squamous(14;0.00164)																	---	---	---	---	capture		Missense_Mutation	SNP	87459208	87459208	14225	7	G	A	A	33	33	RUNDC3B	A	2	2
AKAP9	10142	broad.mit.edu	37	7	91709170	91709170	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91709170C>T	uc003ulg.2	+	31	7948	c.7723C>T	c.(7723-7725)CAA>TAA	p.Q2575*	AKAP9_uc003ulf.2_Nonsense_Mutation_p.Q2567*|AKAP9_uc003uli.2_Nonsense_Mutation_p.Q2198*|AKAP9_uc003ulj.2_Nonsense_Mutation_p.Q345*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2587	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)					T	BRAF	papillary thyroid								---	---	---	---	capture		Nonsense_Mutation	SNP	91709170	91709170	462	7	C	T	T	29	29	AKAP9	T	5	2
PON2	5445	broad.mit.edu	37	7	95034736	95034736	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95034736C>A	uc003unv.2	-	9	1092	c.971G>T	c.(970-972)GGG>GTG	p.G324V	PON2_uc003unu.2_Missense_Mutation_p.G312V|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Missense_Mutation_p.G237V	NM_000305	NP_000296	Q15165	PON2_HUMAN	paraoxonase 2 isoform 1	324					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding				0	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)															---	---	---	---	capture		Missense_Mutation	SNP	95034736	95034736	12678	7	C	A	A	22	22	PON2	A	2	2
MUC17	140453	broad.mit.edu	37	7	100676099	100676099	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100676099G>C	uc003uxp.1	+	3	1455	c.1402G>C	c.(1402-1404)GAG>CAG	p.E468Q	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	468	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|5.					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	100676099	100676099	10368	7	G	C	C	45	45	MUC17	C	3	3
GPR85	54329	broad.mit.edu	37	7	112724255	112724255	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:112724255G>C	uc010ljv.2	-	2	1039	c.522C>G	c.(520-522)TTC>TTG	p.F174L	GPR85_uc003vgp.1_Missense_Mutation_p.F174L|GPR85_uc003vgq.2_Missense_Mutation_p.F174L|GPR85_uc010ljw.1_Missense_Mutation_p.F174L	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	174	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	112724255	112724255	6990	7	G	C	C	41	41	GPR85	C	3	3
ZC3HAV1	56829	broad.mit.edu	37	7	138764611	138764611	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138764611C>A	uc003vun.2	-	4	1464	c.1076G>T	c.(1075-1077)TGG>TTG	p.W359L	ZC3HAV1_uc003vuo.2_5'Flank|ZC3HAV1_uc003vup.2_Missense_Mutation_p.W359L	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	359					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	138764611	138764611	18163	7	C	A	A	21	21	ZC3HAV1	A	2	2
SSPO	23145	broad.mit.edu	37	7	149481129	149481129	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149481129G>A	uc010lpk.2	+	18	2611	c.2611G>A	c.(2611-2613)GAG>AAG	p.E871K	SSPO_uc010lpl.1_Missense_Mutation_p.E206K	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	871	TIL 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---	capture		Missense_Mutation	SNP	149481129	149481129	15705	7	G	A	A	45	45	SSPO	A	2	2
BLK	640	broad.mit.edu	37	8	11412353	11412353	+	Silent	SNP	C	A	A	rs141947199	byFrequency	TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11412353C>A	uc003wty.2	+	7	1155	c.574C>A	c.(574-576)CGG>AGG	p.R192R	BLK_uc003wtz.2_Silent_p.R121R	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	192	SH2.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)														---	---	---	---	capture		Silent	SNP	11412353	11412353	1469	8	C	A	A	23	23	BLK	A	1	1
SLC7A2	6542	broad.mit.edu	37	8	17409474	17409474	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17409474C>G	uc011kyc.1	+	6	1203	c.1034C>G	c.(1033-1035)TCT>TGT	p.S345C	SLC7A2_uc011kyd.1_Missense_Mutation_p.S385C|SLC7A2_uc011kye.1_Missense_Mutation_p.S385C|SLC7A2_uc011kyf.1_Missense_Mutation_p.S345C	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	345	Helical; (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---	capture		Missense_Mutation	SNP	17409474	17409474	15194	8	C	G	G	32	32	SLC7A2	G	3	3
ADRA1A	148	broad.mit.edu	37	8	26722361	26722361	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26722361C>A	uc003xfh.1	-	1	562	c.126G>T	c.(124-126)CTG>CTT	p.L42L	ADRA1A_uc003xfc.1_Silent_p.L42L|ADRA1A_uc010lul.1_Silent_p.L42L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Silent_p.L42L|ADRA1A_uc010lum.1_Silent_p.L42L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Silent_p.L42L	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	42	Helical; Name=1; (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)													---	---	---	---	capture		Silent	SNP	26722361	26722361	335	8	C	A	A	21	21	ADRA1A	A	2	2
FNTA	2339	broad.mit.edu	37	8	42932394	42932394	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42932394G>T	uc003xps.2	+	6	717	c.669G>T	c.(667-669)GTG>GTT	p.V223V	FNTA_uc003xpt.2_Silent_p.V132V|FNTA_uc003xpu.2_Silent_p.V156V|FNTA_uc003xpv.2_RNA	NM_002027	NP_002018	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha isoform a	223	PFTA 4.				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			ovary(1)	1	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)															---	---	---	---	capture		Silent	SNP	42932394	42932394	6219	8	G	T	T	47	47	FNTA	T	2	2
RP1	6101	broad.mit.edu	37	8	55542765	55542765	+	Missense_Mutation	SNP	T	A	A	rs145297510		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55542765T>A	uc003xsd.1	+	4	6471	c.6323T>A	c.(6322-6324)ATT>AAT	p.I2108N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	2108					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---	capture		Missense_Mutation	SNP	55542765	55542765	14011	8	T	A	A	52	52	RP1	A	4	4
CHD7	55636	broad.mit.edu	37	8	61736458	61736458	+	Silent	SNP	T	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61736458T>A	uc003xue.2	+	13	3738	c.3261T>A	c.(3259-3261)ATT>ATA	p.I1087I	CHD7_uc003xuf.2_Silent_p.I200I	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1087	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---	capture		Silent	SNP	61736458	61736458	3464	8	T	A	A	64	64	CHD7	A	4	4
ZFHX4	79776	broad.mit.edu	37	8	77766782	77766782	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77766782C>G	uc003yav.2	+	10	7877	c.7490C>G	c.(7489-7491)CCC>CGC	p.P2497R	ZFHX4_uc003yau.1_Missense_Mutation_p.P2542R|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2497R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2497						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	77766782	77766782	18223	8	C	G	G	22	22	ZFHX4	G	3	3
IMPA1	3612	broad.mit.edu	37	8	82571595	82571595	+	Silent	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82571595G>A	uc003ych.2	-	9	952	c.825C>T	c.(823-825)GAC>GAT	p.D275D	IMPA1_uc011lfq.1_Silent_p.D334D|IMPA1_uc011lfr.1_3'UTR	NM_005536	NP_005527	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1 isoform	275					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			skin(1)	1					Lithium(DB01356)													---	---	---	---	capture		Silent	SNP	82571595	82571595	8023	8	G	A	A	40	40	IMPA1	A	1	1
LRRCC1	85444	broad.mit.edu	37	8	86044014	86044014	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:86044014G>T	uc003ycw.2	+	12	1940	c.1786G>T	c.(1786-1788)GAG>TAG	p.E596*	LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Nonsense_Mutation_p.E297*|LRRCC1_uc003ycx.2_Nonsense_Mutation_p.E503*|LRRCC1_uc003ycy.2_Nonsense_Mutation_p.E576*	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	596	Potential.				cell division|mitosis	centriole|nucleus					0																		---	---	---	---	capture		Nonsense_Mutation	SNP	86044014	86044014	9402	8	G	T	T	41	41	LRRCC1	T	5	2
CPNE3	8895	broad.mit.edu	37	8	87556995	87556995	+	Missense_Mutation	SNP	G	T	T	rs145882934		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87556995G>T	uc003ydv.2	+	9	823	c.661G>T	c.(661-663)GGG>TGG	p.G221W	CPNE3_uc003ydw.1_5'Flank	NM_003909	NP_003900	O75131	CPNE3_HUMAN	copine III	221	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	87556995	87556995	3951	8	G	T	T	47	47	CPNE3	T	2	2
TMEM67	91147	broad.mit.edu	37	8	94792820	94792820	+	Splice_Site	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94792820G>T	uc011lgk.1	+	8	786	c.715_splice	c.e8-1	p.V239_splice	TMEM67_uc010mat.1_Splice_Site_p.V154_splice|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.3_Splice_Site_p.V158_splice	NM_153704	NP_714915			meckelin isoform 1						cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)															---	---	---	---	capture		Splice_Site	SNP	94792820	94792820	16735	8	G	T	T	35	35	TMEM67	T	5	2
SLC30A8	169026	broad.mit.edu	37	8	118184913	118184913	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:118184913G>A	uc003yoh.2	+	8	1333	c.1103G>A	c.(1102-1104)TGT>TAT	p.C368Y	SLC30A8_uc010mcz.2_Missense_Mutation_p.C319Y|SLC30A8_uc011lia.1_Missense_Mutation_p.C319Y|SLC30A8_uc003yog.2_Missense_Mutation_p.C319Y	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	368	Cytoplasmic (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)															---	---	---	---	capture		Missense_Mutation	SNP	118184913	118184913	15058	8	G	A	A	48	48	SLC30A8	A	2	2
BAI1	575	broad.mit.edu	37	8	143624969	143624969	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143624969T>A	uc003ywm.2	+	29	4640	c.4457T>A	c.(4456-4458)ATG>AAG	p.M1486K		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1486	Cytoplasmic (Potential).|Necessary for interaction with MAGI1.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	143624969	143624969	1319	8	T	A	A	51	51	BAI1	A	4	4
RPS6	6194	broad.mit.edu	37	9	19376297	19376297	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19376297C>A	uc003znv.1	-	6	786	c.744G>T	c.(742-744)CAG>CAT	p.Q248H	RPS6_uc003znu.1_Missense_Mutation_p.Q217H	NM_001010	NP_001001	P62753	RS6_HUMAN	ribosomal protein S6	248					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			ovary(1)	1		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)														---	---	---	---	capture		Missense_Mutation	SNP	19376297	19376297	14129	9	C	A	A	32	32	RPS6	A	2	2
NFX1	4799	broad.mit.edu	37	9	33318767	33318767	+	Nonsense_Mutation	SNP	G	T	T	rs142065044		TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33318767G>T	uc003zsq.2	+	8	1688	c.1627G>T	c.(1627-1629)GGA>TGA	p.G543*	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Nonsense_Mutation_p.G543*|NFX1_uc003zso.2_Nonsense_Mutation_p.G543*|NFX1_uc003zsp.1_Nonsense_Mutation_p.G543*|NFX1_uc010mjr.1_Nonsense_Mutation_p.G543*|NFX1_uc003zsr.2_Nonsense_Mutation_p.G543*	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	543					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)														---	---	---	---	capture		Nonsense_Mutation	SNP	33318767	33318767	10787	9	G	T	T	47	47	NFX1	T	5	2
PRSS3	5646	broad.mit.edu	37	9	33797929	33797929	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33797929G>T	uc003ztj.3	+	3	474	c.474G>T	c.(472-474)AGG>AGT	p.R158S	uc003ztk.1_Intron|PRSS3_uc003zti.3_Missense_Mutation_p.R115S|PRSS3_uc003ztl.3_Missense_Mutation_p.R101S	NM_007343	NP_031369	P35030	TRY3_HUMAN	mesotrypsin isoform 1 preproprotein	158	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity				0			LUSC - Lung squamous cell carcinoma(29;0.0176)															---	---	---	---	capture		Missense_Mutation	SNP	33797929	33797929	13072	9	G	T	T	43	43	PRSS3	T	2	2
C9orf131	138724	broad.mit.edu	37	9	35045327	35045327	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35045327C>A	uc003zvw.2	+	2	2730	c.2701C>A	c.(2701-2703)CAA>AAA	p.Q901K	C9orf131_uc003zvu.2_Missense_Mutation_p.Q853K|C9orf131_uc003zvv.2_Missense_Mutation_p.Q828K|C9orf131_uc003zvx.2_Missense_Mutation_p.Q866K	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	hypothetical protein LOC138724 isoform A	901											0	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)															---	---	---	---	capture		Missense_Mutation	SNP	35045327	35045327	2570	9	C	A	A	21	21	C9orf131	A	2	2
CD72	971	broad.mit.edu	37	9	35618056	35618056	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35618056C>A	uc003zxb.2	-	2	269	c.145G>T	c.(145-147)GGG>TGG	p.G49W	CD72_uc003zxc.1_Translation_Start_Site|CD72_uc010mkt.1_Translation_Start_Site|CD72_uc010mku.2_Missense_Mutation_p.G49W|CD72_uc010mkv.2_Missense_Mutation_p.G49W|CD72_uc010mkw.1_RNA	NM_001782	NP_001773	P21854	CD72_HUMAN	CD72 molecule	49	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity				0			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---	capture		Missense_Mutation	SNP	35618056	35618056	3162	9	C	A	A	24	24	CD72	A	2	2
C9orf79	286234	broad.mit.edu	37	9	90501472	90501472	+	Silent	SNP	T	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90501472T>C	uc004app.3	+	4	2105	c.2070T>C	c.(2068-2070)GAT>GAC	p.D690D	C9orf79_uc004apo.1_Silent_p.D502D	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	690						integral to membrane				ovary(3)	3																		---	---	---	---	capture		Silent	SNP	90501472	90501472	2613	9	T	C	C	51	51	C9orf79	C	4	4
SH2D3C	10044	broad.mit.edu	37	9	130536443	130536443	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130536443G>T	uc004bsc.2	-	2	483	c.341C>A	c.(340-342)CCC>CAC	p.P114H	SH2D3C_uc004bsa.2_5'Flank|SH2D3C_uc004bsb.2_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.P58H	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	114					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	130536443	130536443	14725	9	G	T	T	43	43	SH2D3C	T	2	2
FUBP3	8939	broad.mit.edu	37	9	133507392	133507392	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133507392C>A	uc004bzr.1	+	15	1524	c.1416C>A	c.(1414-1416)CCC>CCA	p.P472P	FUBP3_uc004bzs.1_Silent_p.P385P	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	472					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;0.000279)														---	---	---	---	capture		Silent	SNP	133507392	133507392	6344	9	C	A	A	22	22	FUBP3	A	2	2
ABO	28	broad.mit.edu	37	9	136131307	136131307	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136131307C>A	uc004cda.1	-	8	836	c.811G>T	c.(811-813)GGG>TGG	p.G271W	ABO_uc010naf.1_Missense_Mutation_p.G130W|ABO_uc011mcz.1_Missense_Mutation_p.G130W|ABO_uc010nag.1_Missense_Mutation_p.G130W	NM_020469	NP_065202	P16442	BGAT_HUMAN	ABO blood group (alpha	271	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding				0				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)														---	---	---	---	capture		Missense_Mutation	SNP	136131307	136131307	98	9	C	A	A	23	23	ABO	A	1	1
ABCA2	20	broad.mit.edu	37	9	139916916	139916916	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139916916G>C	uc011mem.1	-	5	599	c.451C>G	c.(451-453)CTG>GTG	p.L151V	ABCA2_uc011mel.1_Missense_Mutation_p.L152V|ABCA2_uc004ckl.1_Missense_Mutation_p.L82V|ABCA2_uc004ckm.1_Missense_Mutation_p.L182V|ABCA2_uc004cko.1_5'UTR|ABCA2_uc010nca.2_Missense_Mutation_p.L82V	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	151					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)														---	---	---	---	capture		Missense_Mutation	SNP	139916916	139916916	33	9	G	C	C	33	33	ABCA2	C	3	3
CSF2RA	1438	broad.mit.edu	37	X	1424405	1424405	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1424405T>A	uc010nct.2	+	13	1432	c.1110T>A	c.(1108-1110)CAT>CAA	p.H370Q	CSF2RA_uc011mhb.1_Missense_Mutation_p.H370Q|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Missense_Mutation_p.H370Q|CSF2RA_uc004cpo.2_Missense_Mutation_p.H370Q|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.H237Q|CSF2RA_uc004cpp.2_Intron|CSF2RA_uc010ncv.2_Missense_Mutation_p.H404Q|CSF2RA_uc004cpr.2_3'UTR	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	370	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)													---	---	---	---	capture		Missense_Mutation	SNP	1424405	1424405	4075	23	T	A	A	51	51	CSF2RA	A	4	4
IL3RA	3563	broad.mit.edu	37	X	1499943	1499943	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1499943C>A	uc004cps.2	+	11	1357	c.1008C>A	c.(1006-1008)CCC>CCA	p.P336P	IL3RA_uc011mhd.1_Silent_p.P258P	NM_002183	NP_002174	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha precursor	336	Cytoplasmic (Potential).|Box 1 motif.					integral to membrane|plasma membrane	interleukin-3 receptor activity			skin(2)|lung(1)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)													---	---	---	---	capture		Silent	SNP	1499943	1499943	7996	23	C	A	A	22	22	IL3RA	A	2	2
NLGN4X	57502	broad.mit.edu	37	X	5811256	5811256	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:5811256G>C	uc010ndh.2	-	6	2554	c.2053C>G	c.(2053-2055)CTC>GTC	p.L685V	NLGN4X_uc004crp.2_Missense_Mutation_p.L705V|NLGN4X_uc004crq.2_Missense_Mutation_p.L685V|NLGN4X_uc010ndi.2_Missense_Mutation_p.L722V|NLGN4X_uc004crr.2_Missense_Mutation_p.L685V|NLGN4X_uc010ndj.2_Missense_Mutation_p.L685V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	685	Helical; (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	5811256	5811256	10867	23	G	C	C	34	34	NLGN4X	C	3	3
XAGE3	170626	broad.mit.edu	37	X	52893869	52893869	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:52893869C>G	uc004dre.2	-	4	308	c.248G>C	c.(247-249)GGA>GCA	p.G83A	XAGE3_uc004drf.2_Missense_Mutation_p.G83A	NM_130776	NP_570132	Q8WTP9	GAGD4_HUMAN	XAGE-3 protein	83											0																		---	---	---	---	capture		Missense_Mutation	SNP	52893869	52893869	18001	23	C	G	G	30	30	XAGE3	G	3	3
FAM123B	139285	broad.mit.edu	37	X	63412922	63412922	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63412922C>A	uc004dvo.2	-	2	518	c.245G>T	c.(244-246)GGG>GTG	p.G82V		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	82					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112																		---	---	---	---	capture		Missense_Mutation	SNP	63412922	63412922	5620	23	C	A	A	22	22	FAM123B	A	2	2
ATRX	546	broad.mit.edu	37	X	76889176	76889176	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:76889176G>C	uc004ecp.3	-	18	5066	c.4834C>G	c.(4834-4836)CTT>GTT	p.L1612V	ATRX_uc004ecq.3_Missense_Mutation_p.L1574V|ATRX_uc004eco.3_Missense_Mutation_p.L1397V	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1612	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						---	---	---	---	capture		Missense_Mutation	SNP	76889176	76889176	1227	23	G	C	C	33	33	ATRX	C	3	3
ATP7A	538	broad.mit.edu	37	X	77287017	77287017	+	Silent	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77287017G>T	uc004ecx.3	+	16	3391	c.3231G>T	c.(3229-3231)GTG>GTT	p.V1077V		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1077	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0																		---	---	---	---	capture		Silent	SNP	77287017	77287017	1209	23	G	T	T	47	47	ATP7A	T	2	2
TBX22	50945	broad.mit.edu	37	X	79282782	79282782	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79282782C>G	uc010nmg.1	+	7	960	c.826C>G	c.(826-828)CCT>GCT	p.P276A	TBX22_uc004edi.1_Missense_Mutation_p.P156A|TBX22_uc004edj.1_Missense_Mutation_p.P276A	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	276	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15																		---	---	---	---	capture		Missense_Mutation	SNP	79282782	79282782	16184	23	C	G	G	30	30	TBX22	G	3	3
BRWD3	254065	broad.mit.edu	37	X	79971739	79971739	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79971739C>T	uc004edt.2	-	20	2505	c.2242G>A	c.(2242-2244)GAA>AAA	p.E748K	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.E344K|BRWD3_uc004edp.2_Missense_Mutation_p.E577K|BRWD3_uc004edq.2_Missense_Mutation_p.E344K|BRWD3_uc010nmj.1_Missense_Mutation_p.E344K|BRWD3_uc004edr.2_Missense_Mutation_p.E418K|BRWD3_uc004eds.2_Missense_Mutation_p.E344K|BRWD3_uc004edu.2_Missense_Mutation_p.E418K|BRWD3_uc004edv.2_Missense_Mutation_p.E344K|BRWD3_uc004edw.2_Missense_Mutation_p.E344K|BRWD3_uc004edx.2_Missense_Mutation_p.E344K|BRWD3_uc004edy.2_Missense_Mutation_p.E344K|BRWD3_uc004edz.2_Missense_Mutation_p.E418K|BRWD3_uc004eea.2_Missense_Mutation_p.E418K|BRWD3_uc004eeb.2_Missense_Mutation_p.E344K	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	748										ovary(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	79971739	79971739	1557	23	C	T	T	32	32	BRWD3	T	2	2
CYLC1	1538	broad.mit.edu	37	X	83128726	83128726	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83128726C>G	uc004eei.1	+	4	1031	c.1010C>G	c.(1009-1011)TCT>TGT	p.S337C	CYLC1_uc004eeh.1_Missense_Mutation_p.S336C	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	337	2.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	83128726	83128726	4306	23	C	G	G	32	32	CYLC1	G	3	3
GPRASP1	9737	broad.mit.edu	37	X	101910444	101910444	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101910444G>T	uc004ejj.3	+	5	2404	c.1603G>T	c.(1603-1605)GGG>TGG	p.G535W	GPRASP1_uc004eji.3_Missense_Mutation_p.G535W|GPRASP1_uc010nod.2_Missense_Mutation_p.G535W	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	535	Glu-rich.					cytoplasm	protein binding			ovary(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	101910444	101910444	6998	23	G	T	T	47	47	GPRASP1	T	2	2
NRK	203447	broad.mit.edu	37	X	105152885	105152885	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105152885C>A	uc004emd.2	+	13	1555	c.1252C>A	c.(1252-1254)CCA>ACA	p.P418T	NRK_uc010npc.1_Missense_Mutation_p.P86T	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	418	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14															HNSCC(51;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	105152885	105152885	11060	23	C	A	A	26	26	NRK	A	2	2
RGAG1	57529	broad.mit.edu	37	X	109694758	109694758	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109694758G>T	uc004eor.1	+	3	1159	c.913G>T	c.(913-915)GGA>TGA	p.G305*	RGAG1_uc011msr.1_Nonsense_Mutation_p.G305*	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	305										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	109694758	109694758	13747	23	G	T	T	47	47	RGAG1	T	5	2
AMOT	154796	broad.mit.edu	37	X	112058618	112058618	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:112058618C>A	uc004epr.2	-	2	1360	c.1360G>T	c.(1360-1362)GGA>TGA	p.G454*	AMOT_uc004eps.2_Nonsense_Mutation_p.G45*|AMOT_uc004ept.1_Nonsense_Mutation_p.G454*	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	454	Potential.				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	112058618	112058618	585	23	C	A	A	24	24	AMOT	A	5	2
PLS3	5358	broad.mit.edu	37	X	114868381	114868381	+	Silent	SNP	C	A	A			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:114868381C>A	uc004eqd.2	+	6	960	c.570C>A	c.(568-570)CCC>CCA	p.P190P	PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Silent_p.P168P|PLS3_uc004eqe.2_Silent_p.P190P|PLS3_uc011mtg.1_Silent_p.P163P|PLS3_uc011mth.1_Silent_p.P145P	NM_005032	NP_005023	P13797	PLST_HUMAN	plastin 3	190	Actin-binding 1.|CH 1.					cytoplasm	actin binding|calcium ion binding			lung(1)|breast(1)	2																		---	---	---	---	capture		Silent	SNP	114868381	114868381	12534	23	C	A	A	24	24	PLS3	A	2	2
OPN1LW	5956	broad.mit.edu	37	X	153416411	153416411	+	Silent	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153416411C>T	uc004fjz.3	+	2	429	c.396C>T	c.(394-396)ACC>ACT	p.T132T		NM_020061	NP_064445	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	132	Helical; Name=3; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---	capture		Silent	SNP	153416411	153416411	11283	23	C	T	T	23	23	OPN1LW	T	1	1
F8	2157	broad.mit.edu	37	X	154185447	154185447	+	Splice_Site	SNP	C	T	T			TCGA-18-3406-01	TCGA-18-3406-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154185447C>T	uc004fmt.2	-	11	1709	c.1538_splice	c.e11-1	p.G513_splice		NM_000132	NP_000123			coagulation factor VIII isoform a precursor						acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---	capture		Splice_Site	SNP	154185447	154185447	5544	23	C	T	T	24	24	F8	T	5	2
