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	ref_context	gc_content	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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	newbase	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	context_orig	context65	categ	categ_ignoring_null_categ	gene_idx	pat_idx
IL28RA	163702	broad.mit.edu	37	1	24507335	24507335	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:24507335C>T	uc001bis.2	-	2	81	c.68G>A	c.(67-69)CGT>CAT	p.R23H	IL28RA_uc001bir.2_Missense_Mutation_p.R23H|IL28RA_uc001bit.2_Missense_Mutation_p.R23H|IL28RA_uc001biu.2_Intron|IL28RA_uc001biv.2_Missense_Mutation_p.R23H	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	interleukin 28 receptor, alpha isoform 1	23	Extracellular (Potential).|Fibronectin type-III.				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		AGGGGCCAGACGGGGCCTCCC	0.612													32	45	---	---	---	---	capture	Missense_Mutation	SNP	24507335	24507335	IL28RA	1	C	T	T	T	1	0	0	0	0	1	0	0	0	247	19	1	1	7607	117
C1orf177	163747	broad.mit.edu	37	1	55273597	55273597	+	Missense_Mutation	SNP	A	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:55273597A>T	uc001cyb.3	+	4	447	c.393A>T	c.(391-393)AAA>AAT	p.K131N	C1orf177_uc001cya.3_Missense_Mutation_p.K131N	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	131											0						ACAACCTCAAAGACTTCTTAG	0.547													115	126	---	---	---	---	capture	Missense_Mutation	SNP	55273597	55273597	C1orf177	1	A	T	T	T	1	0	0	0	0	1	0	0	0	37	3	4	4	1999	117
CELSR2	1952	broad.mit.edu	37	1	109801473	109801473	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:109801473G>A	uc001dxa.3	+	2	3791	c.3730G>A	c.(3730-3732)GTG>ATG	p.V1244M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1244	EGF-like 1; calcium-binding.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATGCGCTGCGTGTCGGTGCT	0.692													7	10	---	---	---	---	capture	Missense_Mutation	SNP	109801473	109801473	CELSR2	1	G	A	A	A	1	0	0	0	0	1	0	0	0	520	40	1	1	3190	117
MOV10	4343	broad.mit.edu	37	1	113239252	113239252	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:113239252G>A	uc001eck.2	+	14	2252	c.1982G>A	c.(1981-1983)GGG>GAG	p.G661E	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.G661E|MOV10_uc001ecm.2_Missense_Mutation_p.G601E	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	661					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGCTTCCCAGGGCTGATGGAA	0.602													17	8	---	---	---	---	capture	Missense_Mutation	SNP	113239252	113239252	MOV10	1	G	A	A	A	1	0	0	0	0	1	0	0	0	559	43	2	2	9630	117
TCHHL1	126637	broad.mit.edu	37	1	152060548	152060548	+	Silent	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:152060548G>A	uc001ezo.1	-	2	137	c.72C>T	c.(70-72)AAC>AAT	p.N24N		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	24							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGTTGCCCCGTTACTGTCCT	0.473													204	135	---	---	---	---	capture	Silent	SNP	152060548	152060548	TCHHL1	1	G	A	A	A	1	0	0	0	0	0	0	0	1	516	40	1	1	15586	117
FLG	2312	broad.mit.edu	37	1	152278705	152278705	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:152278705C>T	uc001ezu.1	-	3	8693	c.8657G>A	c.(8656-8658)CGC>CAC	p.R2886H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2886	Ser-rich.|Filaggrin 17.				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)			GGATCCCTGGCGCCTGCTTCT	0.562									Ichthyosis				61	368	---	---	---	---	capture	Missense_Mutation	SNP	152278705	152278705	FLG	1	C	T	T	T	1	0	0	0	0	1	0	0	0	351	27	1	1	5867	117
KPRP	448834	broad.mit.edu	37	1	152733665	152733665	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:152733665G>T	uc001fal.1	+	2	1659	c.1601G>T	c.(1600-1602)AGT>ATT	p.S534I		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	534						cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCATCCAGTTACAACCAG	0.582													63	134	---	---	---	---	capture	Missense_Mutation	SNP	152733665	152733665	KPRP	1	G	T	T	T	1	0	0	0	0	1	0	0	0	468	36	4	4	8356	117
DDR2	4921	broad.mit.edu	37	1	162749984	162749984	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:162749984G>A	uc001gcf.2	+	19	2981	c.2516G>A	c.(2515-2517)CGT>CAT	p.R839H	DDR2_uc001gcg.2_Missense_Mutation_p.R839H|uc001gch.1_5'Flank	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	839	Cytoplasmic (Potential).|Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACGAAGAACCGTCCCTCATTC	0.498													239	162	---	---	---	---	capture	Missense_Mutation	SNP	162749984	162749984	DDR2	1	G	A	A	A	1	0	0	0	0	1	0	0	0	520	40	1	1	4296	117
KIFAP3	22920	broad.mit.edu	37	1	170007466	170007466	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:170007466C>T	uc001ggv.2	-	5	753	c.482G>A	c.(481-483)CGA>CAA	p.R161Q	KIFAP3_uc010ply.1_Missense_Mutation_p.R83Q|KIFAP3_uc001ggw.1_Missense_Mutation_p.R117Q	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	161					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCAGGATTTCGAGCAAGCTG	0.308													54	84	---	---	---	---	capture	Missense_Mutation	SNP	170007466	170007466	KIFAP3	1	C	T	T	T	1	0	0	0	0	1	0	0	0	403	31	1	1	8233	117
FAM5B	57795	broad.mit.edu	37	1	177199272	177199272	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr1:177199272G>A	uc001glf.2	+	2	572	c.260G>A	c.(259-261)AGG>AAG	p.R87K		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	87						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						ACCAGGTACAGGATTTATAGG	0.612													64	128	---	---	---	---	capture	Missense_Mutation	SNP	177199272	177199272	FAM5B	1	G	A	A	A	1	0	0	0	0	1	0	0	0	455	35	2	2	5541	117
FAM13C	220965	broad.mit.edu	37	10	61023889	61023889	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr10:61023889A>G	uc001jkn.2	-	10	1114	c.980T>C	c.(979-981)CTG>CCG	p.L327P	FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.L244P|FAM13C_uc010qie.1_Missense_Mutation_p.L244P|FAM13C_uc010qif.1_Missense_Mutation_p.L349P|FAM13C_uc001jkp.2_Missense_Mutation_p.L244P	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	327										ovary(2)	2						CATCCATTTCAGGACTTCAGG	0.289													4	101	---	---	---	---	capture	Missense_Mutation	SNP	61023889	61023889	FAM13C	10	A	G	G	G	1	0	0	0	0	1	0	0	0	91	7	3	3	5408	117
DCHS1	8642	broad.mit.edu	37	11	6655171	6655171	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr11:6655171C>G	uc001mem.1	-	4	2477	c.2067G>C	c.(2065-2067)GAG>GAC	p.E689D		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	689	Cadherin 7.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGCATACTCCCGTGGAT	0.557													45	88	---	---	---	---	capture	Missense_Mutation	SNP	6655171	6655171	DCHS1	11	C	G	G	G	1	0	0	0	0	1	0	0	0	259	20	4	4	4246	117
WT1	7490	broad.mit.edu	37	11	32450114	32450114	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr11:32450114G>A	uc001mtn.1	-	2	894	c.698C>T	c.(697-699)TCG>TTG	p.S233L	WT1_uc001mtl.1_Missense_Mutation_p.S21L|WT1_uc001mtm.1_Missense_Mutation_p.S21L|WT1_uc001mto.1_Missense_Mutation_p.S233L|WT1_uc001mtp.1_Missense_Mutation_p.S233L|WT1_uc001mtq.1_Missense_Mutation_p.S233L|WT1_uc009yjs.1_RNA	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	165					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CGCATGGTGCGAGGGCGTGTG	0.632			D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				33	32	---	---	---	---	capture	Missense_Mutation	SNP	32450114	32450114	WT1	11	G	A	A	A	1	0	0	0	0	1	0	0	0	481	37	1	1	17289	117
SLC22A25	387601	broad.mit.edu	37	11	62948177	62948177	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr11:62948177C>T	uc001nwr.1	-	6	1025	c.1025G>A	c.(1024-1026)CGC>CAC	p.R342H	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Missense_Mutation_p.R342H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	putative UST1-like organic anion transporter	342	Cytoplasmic (Potential).				transmembrane transport	integral to membrane				ovary(3)|skin(1)	4						GTTGGGTATGCGGAGCAATTC	0.383													83	99	---	---	---	---	capture	Missense_Mutation	SNP	62948177	62948177	SLC22A25	11	C	T	T	T	1	0	0	0	0	1	0	0	0	351	27	1	1	14346	117
ARAP1	116985	broad.mit.edu	37	11	72423533	72423533	+	Silent	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr11:72423533G>A	uc001osu.2	-	6	1017	c.828C>T	c.(826-828)GAC>GAT	p.D276D	ARAP1_uc001osv.2_Silent_p.D276D|ARAP1_uc001osr.2_Silent_p.D36D|ARAP1_uc001oss.2_Silent_p.D31D|ARAP1_uc009yth.2_Silent_p.D31D|ARAP1_uc010rre.1_Silent_p.D31D	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	276					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			skin(1)	1						CCCCTTGGTCGTCCCCAGACA	0.682													163	158	---	---	---	---	capture	Silent	SNP	72423533	72423533	ARAP1	11	G	A	A	A	1	0	0	0	0	0	0	0	1	516	40	1	1	831	117
PRCP	5547	broad.mit.edu	37	11	82564244	82564244	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr11:82564244A>G	uc001ozs.2	-	3	499	c.386T>C	c.(385-387)CTC>CCC	p.L129P	PRCP_uc001ozr.2_Missense_Mutation_p.L150P	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	129					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						ACCAAAGGGGAGAGACTCTCC	0.363													3	64	---	---	---	---	capture	Missense_Mutation	SNP	82564244	82564244	PRCP	11	A	G	G	G	1	0	0	0	0	1	0	0	0	143	11	3	3	12345	117
TMEM19	55266	broad.mit.edu	37	12	72092727	72092727	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr12:72092727G>A	uc001sws.2	+	5	1268	c.685G>A	c.(685-687)GGT>AGT	p.G229S	TMEM19_uc001swr.1_Missense_Mutation_p.G215S|TMEM19_uc009zru.1_RNA	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	transmembrane protein 19	229	Helical; (Potential).					integral to membrane					0		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CAGTCTCCTTGGTGGTACCTT	0.443													88	144	---	---	---	---	capture	Missense_Mutation	SNP	72092727	72092727	TMEM19	12	G	A	A	A	1	0	0	0	0	1	0	0	0	611	47	2	2	15996	117
SOCS2	8835	broad.mit.edu	37	12	93968661	93968661	+	Silent	SNP	C	T	T	rs148086876		TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr12:93968661C>T	uc001tcw.1	+	3	893	c.303C>T	c.(301-303)GAC>GAT	p.D101D	SOCS2_uc001tcx.1_Silent_p.D101D|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Silent_p.D101D|SOCS2_uc001tcz.2_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	suppressor of cytokine signaling-2	101	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			lung(1)	1						AATACCAAGACGGAAAATTCA	0.378													46	74	---	---	---	---	capture	Silent	SNP	93968661	93968661	SOCS2	12	C	T	T	T	1	0	0	0	0	0	0	0	1	246	19	1	1	14806	117
RIC8B	55188	broad.mit.edu	37	12	107208579	107208579	+	Missense_Mutation	SNP	T	G	G			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr12:107208579T>G	uc001tlx.2	+	3	363	c.238T>G	c.(238-240)TTA>GTA	p.L80V	RIC8B_uc001tlw.2_Missense_Mutation_p.L80V|RIC8B_uc001tly.2_Missense_Mutation_p.L40V|RIC8B_uc001tlz.2_RNA	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	resistance to inhibitors of cholinesterase 8	80					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			ovary(1)	1						CAAAAAGGTTTTAGTTCCTGT	0.413													69	82	---	---	---	---	capture	Missense_Mutation	SNP	107208579	107208579	RIC8B	12	T	G	G	G	1	0	0	0	0	1	0	0	0	829	64	4	4	13248	117
MLXIP	22877	broad.mit.edu	37	12	122613736	122613736	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr12:122613736G>A	uc001ubq.2	+	4	659	c.659G>A	c.(658-660)CGG>CAG	p.R220Q	MLXIP_uc001ubr.2_5'UTR|MLXIP_uc001ubs.1_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	MLX interacting protein	220	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			ovary(2)	2	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATTGTGATCCGGGAGTATCAC	0.557													9	23	---	---	---	---	capture	Missense_Mutation	SNP	122613736	122613736	MLXIP	12	G	A	A	A	1	0	0	0	0	1	0	0	0	507	39	1	1	9548	117
NUBP1	4682	broad.mit.edu	37	16	10837884	10837884	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr16:10837884G>A	uc002daa.1	+	2	109	c.86G>A	c.(85-87)CGG>CAG	p.R29Q	NUBP1_uc010bum.1_5'UTR|NUBP1_uc002dab.1_Missense_Mutation_p.R29Q	NM_002484	NP_002475	P53384	NUBP1_HUMAN	nucleotide binding protein 1	29					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			ovary(1)|skin(1)	2						CCCAACCAGCGGCTGTGCGCT	0.657													12	9	---	---	---	---	capture	Missense_Mutation	SNP	10837884	10837884	NUBP1	16	G	A	A	A	1	0	0	0	0	1	0	0	0	507	39	1	1	10622	117
ANKRD11	29123	broad.mit.edu	37	16	89341552	89341552	+	Silent	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr16:89341552C>T	uc002fmx.1	-	10	7979	c.7518G>A	c.(7516-7518)AGG>AGA	p.R2506R	ANKRD11_uc002fmy.1_Silent_p.R2506R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2506						nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCCTGCTGCCTGAACAGCT	0.662													3	27	---	---	---	---	capture	Silent	SNP	89341552	89341552	ANKRD11	16	C	T	T	T	1	0	0	0	0	0	0	0	1	337	26	2	2	636	117
C17orf74	201243	broad.mit.edu	37	17	7330635	7330635	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:7330635C>T	uc002ggw.2	+	3	1398	c.1325C>T	c.(1324-1326)CCG>CTG	p.P442L	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	442						integral to membrane					0		Prostate(122;0.157)				GCCCCTCCCCCGACCATGTTT	0.647													42	56	---	---	---	---	capture	Missense_Mutation	SNP	7330635	7330635	C17orf74	17	C	T	T	T	1	0	0	0	0	1	0	0	0	299	23	1	1	1864	117
PIK3R5	23533	broad.mit.edu	37	17	8792082	8792082	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:8792082G>A	uc002glt.2	-	10	1089	c.1022C>T	c.(1021-1023)GCC>GTC	p.A341V	PIK3R5_uc010vuz.1_Missense_Mutation_p.A341V|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.P290S|PIK3R5_uc010cob.1_5'UTR	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	341				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						ATCTCTCTCGGCACAGTGCCC	0.502													3	62	---	---	---	---	capture	Missense_Mutation	SNP	8792082	8792082	PIK3R5	17	G	A	A	A	1	0	0	0	0	1	0	0	0	546	42	2	2	11825	117
FBXW10	10517	broad.mit.edu	37	17	18651317	18651317	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:18651317C>T	uc002guk.2	+	2	801	c.569C>T	c.(568-570)GCG>GTG	p.A190V	FBXW10_uc002guj.2_Missense_Mutation_p.A190V|FBXW10_uc002gul.2_Missense_Mutation_p.A190V|FBXW10_uc010cqh.1_Missense_Mutation_p.A190V	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	190	WD 1.									ovary(1)	1						TCCAAGTCTGCGACCTCACAA	0.478													27	61	---	---	---	---	capture	Missense_Mutation	SNP	18651317	18651317	FBXW10	17	C	T	T	T	1	0	0	0	0	1	0	0	0	351	27	1	1	5709	117
PIPOX	51268	broad.mit.edu	37	17	27380567	27380567	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:27380567G>C	uc002hdr.1	+	4	940	c.614G>C	c.(613-615)TGG>TCG	p.W205S		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	205					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity				0	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GCAGGTCCTTGGACCAACCAG	0.517													75	127	---	---	---	---	capture	Missense_Mutation	SNP	27380567	27380567	PIPOX	17	G	C	C	C	1	0	0	0	0	1	0	0	0	611	47	4	4	11846	117
SLC35B1	10237	broad.mit.edu	37	17	47780551	47780551	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:47780551T>C	uc002iph.1	-	7	848	c.761A>G	c.(760-762)CAG>CGG	p.Q254R	SLC35B1_uc002ipi.1_Missense_Mutation_p.Q187R|SLC35B1_uc002ipj.1_Missense_Mutation_p.Q130R	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1	254	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0						AGCACTCACCTGACCCAGGGC	0.547													3	134	---	---	---	---	capture	Missense_Mutation	SNP	47780551	47780551	SLC35B1	17	T	C	C	C	1	0	0	0	0	1	0	0	0	715	55	3	3	14467	117
KCNH6	81033	broad.mit.edu	37	17	61613122	61613122	+	Silent	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:61613122G>A	uc002jay.2	+	6	1274	c.1194G>A	c.(1192-1194)GCG>GCA	p.A398A	KCNH6_uc002jax.1_Silent_p.A398A|KCNH6_uc010wpl.1_Silent_p.A275A|KCNH6_uc010wpm.1_Silent_p.A398A|KCNH6_uc002jaz.1_Silent_p.A398A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	398	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	AGTATGGGGCGGCTGTGCTCT	0.617													5	107	---	---	---	---	capture	Silent	SNP	61613122	61613122	KCNH6	17	G	A	A	A	1	0	0	0	0	0	0	0	1	496	39	1	1	7958	117
TMEM105	284186	broad.mit.edu	37	17	79287573	79287573	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr17:79287573C>T	uc002kad.1	-	3	818	c.268G>A	c.(268-270)GGG>AGG	p.G90R		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	transmembrane protein 105	90						integral to membrane				ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CCAGACTGCCCCCAGGCAGGC	0.662													5	146	---	---	---	---	capture	Missense_Mutation	SNP	79287573	79287573	TMEM105	17	C	T	T	T	1	0	0	0	0	1	0	0	0	286	22	2	2	15904	117
LAMA1	284217	broad.mit.edu	37	18	7010303	7010303	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr18:7010303G>C	uc002knm.2	-	26	3863	c.3769C>G	c.(3769-3771)CAA>GAA	p.Q1257E	LAMA1_uc010wzj.1_Missense_Mutation_p.Q733E	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1257	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGAGAACTTGAGGCTCAAAA	0.463													75	86	---	---	---	---	capture	Missense_Mutation	SNP	7010303	7010303	LAMA1	18	G	C	C	C	1	0	0	0	0	1	0	0	0	585	45	4	4	8525	117
MIDN	90007	broad.mit.edu	37	19	1250466	1250466	+	Silent	SNP	C	G	G			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:1250466C>G	uc002lrp.2	+	2	686	c.171C>G	c.(169-171)CGC>CGG	p.R57R		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	57	Ubiquitin-like.					nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGCTGCGCAAGCGGTTGT	0.493													13	9	---	---	---	---	capture	Silent	SNP	1250466	1250466	MIDN	19	C	G	G	G	1	0	0	0	0	0	0	0	1	314	25	4	4	9491	117
RAVER1	125950	broad.mit.edu	37	19	10444148	10444148	+	Silent	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:10444148C>T	uc002moa.2	-	1	167	c.87G>A	c.(85-87)CCG>CCA	p.P29P		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	12						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TAGGGCTCAGCGGGGGCCGGT	0.692													3	51	---	---	---	---	capture	Silent	SNP	10444148	10444148	RAVER1	19	C	T	T	T	1	0	0	0	0	0	0	0	1	340	27	1	1	12989	117
USHBP1	83878	broad.mit.edu	37	19	17366376	17366376	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:17366376G>A	uc002nfs.1	-	10	1623	c.1510C>T	c.(1510-1512)CGG>TGG	p.R504W	USHBP1_uc002nfr.1_Missense_Mutation_p.R130W|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.R440W	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	504	Potential.						PDZ domain binding			ovary(1)	1						TTCTCACGCCGCACCAGCTGC	0.647													3	15	---	---	---	---	capture	Missense_Mutation	SNP	17366376	17366376	USHBP1	19	G	A	A	A	1	0	0	0	0	1	0	0	0	493	38	1	1	16919	117
ZAP70	7535	broad.mit.edu	37	2	98354224	98354224	+	Missense_Mutation	SNP	G	A	A	rs150631046		TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr2:98354224G>A	uc002syd.1	+	12	1694	c.1487G>A	c.(1486-1488)CGC>CAC	p.R496H	ZAP70_uc002sye.1_Missense_Mutation_p.R386H|ZAP70_uc002syf.1_Missense_Mutation_p.R189H	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	496	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						CCCCAGGCCCGCTCAGCAGGG	0.627													82	31	---	---	---	---	capture	Missense_Mutation	SNP	98354224	98354224	ZAP70	2	G	A	A	A	1	0	0	0	0	1	0	0	0	494	38	1	1	17395	117
SCN7A	6332	broad.mit.edu	37	2	167262324	167262324	+	Silent	SNP	T	C	C			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr2:167262324T>C	uc002udu.1	-	25	4942	c.4815A>G	c.(4813-4815)TTA>TTG	p.L1605L		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1605					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						AAGGGTTGGCTAACAAAAACC	0.368													95	152	---	---	---	---	capture	Silent	SNP	167262324	167262324	SCN7A	2	T	C	C	C	1	0	0	0	0	0	0	0	1	686	53	3	3	13816	117
DNAH7	56171	broad.mit.edu	37	2	196741332	196741332	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr2:196741332A>G	uc002utj.3	-	37	6154	c.6053T>C	c.(6052-6054)ATT>ACT	p.I2018T		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2018	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TGACATGACAATATTCTGAGT	0.363													46	77	---	---	---	---	capture	Missense_Mutation	SNP	196741332	196741332	DNAH7	2	A	G	G	G	1	0	0	0	0	1	0	0	0	52	4	3	3	4562	117
AAMP	14	broad.mit.edu	37	2	219131281	219131281	+	Silent	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr2:219131281G>A	uc002vhk.2	-	5	648	c.564C>T	c.(562-564)GTC>GTT	p.V188V	AAMP_uc002vhj.2_Silent_p.V169V|AAMP_uc010fvo.2_Silent_p.V188V|AAMP_uc002vhl.2_Silent_p.V189V	NM_001087	NP_001078	Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	188	WD 3.				angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCCAACAGGACAGGTGCCC	0.642													18	37	---	---	---	---	capture	Silent	SNP	219131281	219131281	AAMP	2	G	A	A	A	1	0	0	0	0	0	0	0	1	522	41	2	2	17	117
PROKR2	128674	broad.mit.edu	37	20	5282952	5282952	+	Missense_Mutation	SNP	C	T	T	rs139399061	byFrequency	TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr20:5282952C>T	uc010zqw.1	-	2	889	c.889G>A	c.(889-891)GTT>ATT	p.V297I	PROKR2_uc010zqx.1_Missense_Mutation_p.V297I|PROKR2_uc010zqy.1_Missense_Mutation_p.V297I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	297	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						AAGTCACGAACGATGGTGAAA	0.562										HNSCC(71;0.22)			55	75	---	---	---	---	capture	Missense_Mutation	SNP	5282952	5282952	PROKR2	20	C	T	T	T	1	0	0	0	0	1	0	0	0	247	19	1	1	12449	117
PCSK2	5126	broad.mit.edu	37	20	17389925	17389925	+	Silent	SNP	C	T	T	rs139215444	byFrequency	TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr20:17389925C>T	uc002wpm.2	+	6	881	c.561C>T	c.(559-561)TAC>TAT	p.Y187Y	PCSK2_uc002wpl.2_Silent_p.Y168Y|PCSK2_uc010zrm.1_Silent_p.Y152Y	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	187	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGCAAGTTACGACTTCAGCA	0.483													113	182	---	---	---	---	capture	Silent	SNP	17389925	17389925	PCSK2	20	C	T	T	T	1	0	0	0	0	0	0	0	1	246	19	1	1	11504	117
OPRL1	4987	broad.mit.edu	37	20	62729348	62729348	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr20:62729348G>A	uc002yic.2	+	4	829	c.427G>A	c.(427-429)GCC>ACC	p.A143T	OPRL1_uc002yid.2_Missense_Mutation_p.A143T|OPRL1_uc002yif.3_Missense_Mutation_p.A138T	NM_182647	NP_872588	P41146	OPRX_HUMAN	opiate receptor-like 1	143	Helical; Name=3; (Potential).				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CACCCTAACTGCCATGAGTGT	0.572													78	75	---	---	---	---	capture	Missense_Mutation	SNP	62729348	62729348	OPRL1	20	G	A	A	A	1	0	0	0	0	1	0	0	0	598	46	2	2	10790	117
TMPRSS15	5651	broad.mit.edu	37	21	19775931	19775931	+	Silent	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr21:19775931C>T	uc002ykw.2	-	1	40	c.9G>A	c.(7-9)TCG>TCA	p.S3S		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	3	Cytoplasmic (Potential).				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						TGCCTCTTTTCGACCCCATTT	0.353													43	62	---	---	---	---	capture	Silent	SNP	19775931	19775931	TMPRSS15	21	C	T	T	T	1	0	0	0	0	0	0	0	1	392	31	1	1	16129	117
CLDN17	26285	broad.mit.edu	37	21	31538845	31538845	+	Missense_Mutation	SNP	T	C	C			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr21:31538845T>C	uc011acv.1	-	1	91	c.91A>G	c.(91-93)AGA>GGA	p.R31G		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	31	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						GCTGATACTCTCCACTGAGGC	0.507													64	81	---	---	---	---	capture	Missense_Mutation	SNP	31538845	31538845	CLDN17	21	T	C	C	C	1	0	0	0	0	1	0	0	0	700	54	3	3	3443	117
MX2	4600	broad.mit.edu	37	21	42762561	42762561	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr21:42762561G>C	uc002yzf.1	+	6	906	c.802G>C	c.(802-804)GTG>CTG	p.V268L	MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	268					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCCCTGTAACGTGGACATTGC	0.507													89	153	---	---	---	---	capture	Missense_Mutation	SNP	42762561	42762561	MX2	21	G	C	C	C	1	0	0	0	0	1	0	0	0	520	40	4	4	9908	117
CELSR1	9620	broad.mit.edu	37	22	46930786	46930786	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr22:46930786G>A	uc003bhw.1	-	1	2282	c.2282C>T	c.(2281-2283)GCG>GTG	p.A761V		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	761	Extracellular (Potential).|Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCTGTCACCGCCAGCACGTA	0.602													37	35	---	---	---	---	capture	Missense_Mutation	SNP	46930786	46930786	CELSR1	22	G	A	A	A	1	0	0	0	0	1	0	0	0	494	38	1	1	3189	117
SHISA5	51246	broad.mit.edu	37	3	48538580	48538580	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:48538580G>A	uc003ctp.1	-	2	357	c.223C>T	c.(223-225)CCT>TCT	p.P75S	SHISA5_uc003cto.1_Missense_Mutation_p.P44S|SHISA5_uc003ctq.1_Intron|SHISA5_uc003ctr.1_Missense_Mutation_p.P44S|SHISA5_uc003cts.1_Missense_Mutation_p.P44S	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	scotin precursor	75	Extracellular (Potential).				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding				0						CTGGCCTCAGGCACAGCACAC	0.572													15	45	---	---	---	---	capture	Missense_Mutation	SNP	48538580	48538580	SHISA5	3	G	A	A	A	1	0	0	0	0	1	0	0	0	546	42	2	2	14176	117
ERC2	26059	broad.mit.edu	37	3	56468977	56468977	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:56468977C>T	uc003dhr.1	-	2	315	c.59G>A	c.(58-60)CGT>CAT	p.R20H		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	20						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTGGCAAACGAGGGGATCT	0.468													33	115	---	---	---	---	capture	Missense_Mutation	SNP	56468977	56468977	ERC2	3	C	T	T	T	1	0	0	0	0	1	0	0	0	247	19	1	1	5166	117
FAM19A1	407738	broad.mit.edu	37	3	68055847	68055847	+	Silent	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:68055847C>T	uc003dnd.2	+	2	294	c.78C>T	c.(76-78)TCC>TCT	p.S26S	FAM19A1_uc003dne.2_Silent_p.S26S|FAM19A1_uc003dng.2_Silent_p.S26S|FAM19A1_uc003dnf.1_RNA	NM_213609	NP_998774	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine	26						endoplasmic reticulum|extracellular region				ovary(1)	1		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCCATGGATCCCTTCAGCACA	0.502													92	260	---	---	---	---	capture	Silent	SNP	68055847	68055847	FAM19A1	3	C	T	T	T	1	0	0	0	0	0	0	0	1	275	22	2	2	5483	117
CNTN3	5067	broad.mit.edu	37	3	74316462	74316462	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:74316462C>A	uc003dpm.1	-	20	2852	c.2772G>T	c.(2770-2772)GAG>GAT	p.E924D		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	924	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTTAACTTGCTCCCAATTAA	0.358													66	216	---	---	---	---	capture	Missense_Mutation	SNP	74316462	74316462	CNTN3	3	C	A	A	A	1	0	0	0	0	1	0	0	0	363	28	4	4	3607	117
ARL13B	200894	broad.mit.edu	37	3	93761891	93761891	+	Missense_Mutation	SNP	C	A	A	rs139997243		TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:93761891C>A	uc003drc.2	+	7	1117	c.831C>A	c.(829-831)AAC>AAA	p.N277K	ARL13B_uc010hop.2_Missense_Mutation_p.N128K|ARL13B_uc003drd.2_Missense_Mutation_p.N170K|ARL13B_uc003dre.2_Missense_Mutation_p.N262K|ARL13B_uc003drf.2_Missense_Mutation_p.N277K|ARL13B_uc003drg.2_Missense_Mutation_p.N174K	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	277							GTP binding				0						AGAAAAAAAACCAAAAAATGG	0.333													17	51	---	---	---	---	capture	Missense_Mutation	SNP	93761891	93761891	ARL13B	3	C	A	A	A	1	0	0	0	0	1	0	0	0	233	18	4	4	922	117
LEPREL1	55214	broad.mit.edu	37	3	189700930	189700930	+	Splice_Site	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr3:189700930C>T	uc011bsk.1	-	8	1618	c.1230_splice	c.e8-1	p.R410_splice	LEPREL1_uc003fsg.2_Splice_Site_p.R229_splice	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	leprecan-like 1 isoform a						collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGAAGGGACCCTGCCCATTCA	0.393													78	186	---	---	---	---	capture	Splice_Site	SNP	189700930	189700930	LEPREL1	3	C	T	T	T	1	0	0	0	0	0	0	1	0	312	24	5	2	8650	117
FRYL	285527	broad.mit.edu	37	4	48622786	48622786	+	Missense_Mutation	SNP	A	C	C			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr4:48622786A>C	uc003gyh.1	-	6	789	c.184T>G	c.(184-186)TCT>GCT	p.S62A	FRYL_uc003gyk.2_Missense_Mutation_p.S62A|FRYL_uc003gyl.1_Missense_Mutation_p.S113A|FRYL_uc003gym.1_Missense_Mutation_p.S62A	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GAGCTCATAGAGCTTATCAAC	0.363													47	55	---	---	---	---	capture	Missense_Mutation	SNP	48622786	48622786	FRYL	4	A	C	C	C	1	0	0	0	0	1	0	0	0	143	11	4	4	6007	117
SFRP2	6423	broad.mit.edu	37	4	154702675	154702675	+	Silent	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr4:154702675C>T	uc003inv.1	-	3	1057	c.816G>A	c.(814-816)TCG>TCA	p.S272S		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2 precursor	272	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	p.S272S(1)		ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.093)	Renal(120;0.117)				ACCGCTTCACCGAGGTGATCA	0.592													54	82	---	---	---	---	capture	Silent	SNP	154702675	154702675	SFRP2	4	C	T	T	T	1	0	0	0	0	0	0	0	1	288	23	1	1	14055	117
VCAN	1462	broad.mit.edu	37	5	82815367	82815367	+	Silent	SNP	T	C	C			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr5:82815367T>C	uc003kii.3	+	7	1598	c.1242T>C	c.(1240-1242)GCT>GCC	p.A414A	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.A414A|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	414	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACCTCAGGCTATCACAGATA	0.463													3	129	---	---	---	---	capture	Silent	SNP	82815367	82815367	VCAN	5	T	C	C	C	1	0	0	0	0	0	0	0	1	678	53	3	3	17020	117
TRIM7	81786	broad.mit.edu	37	5	180622296	180622296	+	Missense_Mutation	SNP	A	G	G			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr5:180622296A>G	uc003mmz.1	-	7	1473	c.1406T>C	c.(1405-1407)GTG>GCG	p.V469A	TRIM7_uc003mmv.1_Missense_Mutation_p.V287A|TRIM7_uc003mmw.1_Missense_Mutation_p.V261A|TRIM7_uc003mmx.1_Missense_Mutation_p.V261A|TRIM7_uc003mmy.1_Missense_Mutation_p.V261A	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	469	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CACGGCTCCCACCTCCAGGTC	0.672													3	8	---	---	---	---	capture	Missense_Mutation	SNP	180622296	180622296	TRIM7	5	A	G	G	G	1	0	0	0	0	1	0	0	0	78	6	3	3	16426	117
ANKS1A	23294	broad.mit.edu	37	6	34935028	34935028	+	Silent	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr6:34935028G>A	uc003ojx.3	+	2	352	c.210G>A	c.(208-210)GGG>GGA	p.G70G	ANKS1A_uc011dss.1_Silent_p.G70G|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	70						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						TGTGGAGAGGGCCAAATGTGA	0.423													5	194	---	---	---	---	capture	Silent	SNP	34935028	34935028	ANKS1A	6	G	A	A	A	1	0	0	0	0	0	0	0	1	535	42	2	2	682	117
GLP1R	2740	broad.mit.edu	37	6	39033981	39033981	+	Silent	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr6:39033981G>A	uc003ooj.3	+	5	471	c.411G>A	c.(409-411)CCG>CCA	p.P137P	GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	NM_002062	NP_002053	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor precursor	137	Extracellular (Potential).			P -> R (in Ref. 4; no nucleotide entry).|SP -> WG (in Ref. 1; AAA03614).	activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			lung(3)|breast(1)|pancreas(1)	5					Exenatide(DB01276)|Glucagon recombinant(DB00040)	AGAGCTCCCCGGAGGAGCAGC	0.597													22	40	---	---	---	---	capture	Silent	SNP	39033981	39033981	GLP1R	6	G	A	A	A	1	0	0	0	0	0	0	0	1	496	39	1	1	6388	117
RNF217	154214	broad.mit.edu	37	6	125379096	125379096	+	Silent	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr6:125379096C>T	uc003pzs.2	+	5	587	c.249C>T	c.(247-249)TGC>TGT	p.C83C	RNF217_uc003pzr.2_Silent_p.C140C|RNF217_uc003pzt.2_RNA	NM_152553	NP_689766	Q8TC41	RN217_HUMAN	ring finger protein 217	83	IBR-type.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGATCCAGTGCCCTACCTGCC	0.388													54	37	---	---	---	---	capture	Silent	SNP	125379096	125379096	RNF217	6	C	T	T	T	1	0	0	0	0	0	0	0	1	337	26	2	2	13373	117
HECA	51696	broad.mit.edu	37	6	139495543	139495543	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr6:139495543C>T	uc003qin.2	+	3	1619	c.1334C>T	c.(1333-1335)GCC>GTC	p.A445V		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	445					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CATCTGTATGCCGTGTGCGTG	0.502													5	137	---	---	---	---	capture	Missense_Mutation	SNP	139495543	139495543	HECA	6	C	T	T	T	1	0	0	0	0	1	0	0	0	338	26	2	2	6964	117
SEPT14	346288	broad.mit.edu	37	7	55874801	55874801	+	Missense_Mutation	SNP	G	C	C			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr7:55874801G>C	uc003tqz.2	-	8	1085	c.968C>G	c.(967-969)CCA>CGA	p.P323R		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	323					cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGTTGTTTGGACCCACATC	0.368													606	329	---	---	---	---	capture	Missense_Mutation	SNP	55874801	55874801	SEPT14	7	G	C	C	C	1	0	0	0	0	1	0	0	0	611	47	4	4	13956	117
TRIM4	89122	broad.mit.edu	37	7	99507253	99507253	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr7:99507253C>T	uc003usd.2	-	3	632	c.502G>A	c.(502-504)GTG>ATG	p.V168M	TRIM4_uc003use.2_Missense_Mutation_p.V142M|TRIM4_uc011kjc.1_Translation_Start_Site|TRIM4_uc003usf.2_Missense_Mutation_p.V142M	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	tripartite motif protein TRIM4 isoform alpha	168					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			ovary(1)|kidney(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				ATCTTGGCCACGAGATTACGC	0.408													21	58	---	---	---	---	capture	Missense_Mutation	SNP	99507253	99507253	TRIM4	7	C	T	T	T	1	0	0	0	0	1	0	0	0	247	19	1	1	16397	117
ATP6V0A4	50617	broad.mit.edu	37	7	138447096	138447096	+	Silent	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr7:138447096G>A	uc003vuf.2	-	6	739	c.501C>T	c.(499-501)ACC>ACT	p.T167T	ATP6V0A4_uc003vug.2_Silent_p.T167T|ATP6V0A4_uc003vuh.2_Silent_p.T167T	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	167	Cytoplasmic (Potential).				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1						CCAACTTTCCGGTCATATATG	0.458													4	138	---	---	---	---	capture	Silent	SNP	138447096	138447096	ATP6V0A4	7	G	A	A	A	1	0	0	0	0	0	0	0	1	496	39	1	1	1161	117
SGK223	157285	broad.mit.edu	37	8	8239066	8239066	+	Silent	SNP	A	G	G			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr8:8239066A>G	uc003wsh.3	-	1	192	c.192T>C	c.(190-192)CCT>CCC	p.P64P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	64							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GGCAGTTCTCAGGCCTGGGAG	0.652													3	109	---	---	---	---	capture	Silent	SNP	8239066	8239066	SGK223	8	A	G	G	G	1	0	0	0	0	0	0	0	1	80	7	3	3	14103	117
VCPIP1	80124	broad.mit.edu	37	8	67546807	67546807	+	Nonsense_Mutation	SNP	C	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr8:67546807C>A	uc003xwn.2	-	3	3857	c.3598G>T	c.(3598-3600)GAG>TAG	p.E1200*		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex	1200					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1)	8		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCAAGCTCCTCCACGGAATTT	0.428													111	144	---	---	---	---	capture	Nonsense_Mutation	SNP	67546807	67546807	VCPIP1	8	C	A	A	A	1	0	0	0	0	0	1	0	0	390	30	5	4	17023	117
SLC25A32	81034	broad.mit.edu	37	8	104412724	104412724	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr8:104412724C>G	uc003yll.2	-	7	1166	c.863G>C	c.(862-864)AGA>ACA	p.R288T	SLC25A32_uc011lhr.1_Missense_Mutation_p.R156T	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	solute carrier family 25, member 32	288	Solcar 3.|Helical; Name=6; (Potential).				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TGGAGTCACTCTAATCAAATT	0.368													88	135	---	---	---	---	capture	Missense_Mutation	SNP	104412724	104412724	SLC25A32	8	C	G	G	G	1	0	0	0	0	1	0	0	0	416	32	4	4	14388	117
RECK	8434	broad.mit.edu	37	9	36060144	36060144	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr9:36060144C>G	uc003zyv.2	+	4	349	c.263C>G	c.(262-264)TCT>TGT	p.S88C	RECK_uc010mld.2_Missense_Mutation_p.S88C|RECK_uc003zyu.3_Missense_Mutation_p.S88C|RECK_uc003zyw.2_Translation_Start_Site|RECK_uc010mle.1_Intron|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	88	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATGAATTCATCTTTGCCAGGT	0.299													73	122	---	---	---	---	capture	Missense_Mutation	SNP	36060144	36060144	RECK	9	C	G	G	G	1	0	0	0	0	1	0	0	0	416	32	4	4	13095	117
TMEM2	23670	broad.mit.edu	37	9	74345061	74345061	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr9:74345061C>T	uc011lsa.1	-	9	2422	c.1882G>A	c.(1882-1884)GGT>AGT	p.G628S	TMEM2_uc010mos.2_Missense_Mutation_p.G565S|TMEM2_uc011lsb.1_RNA	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2 isoform a	628						integral to membrane				ovary(2)	2		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAGAGTACCCGGCTTGGTG	0.458													83	121	---	---	---	---	capture	Missense_Mutation	SNP	74345061	74345061	TMEM2	9	C	T	T	T	1	0	0	0	0	1	0	0	0	286	22	2	2	16004	117
WNK2	65268	broad.mit.edu	37	9	96030055	96030055	+	Missense_Mutation	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr9:96030055G>A	uc004ati.1	+	16	3724	c.3724G>A	c.(3724-3726)GAG>AAG	p.E1242K	WNK2_uc011lud.1_Missense_Mutation_p.E1242K|WNK2_uc004atj.2_Missense_Mutation_p.E1242K|WNK2_uc004atk.2_Missense_Mutation_p.E879K	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1242					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						CCTGCAGGCCGAGCGGGAAAC	0.577													9	10	---	---	---	---	capture	Missense_Mutation	SNP	96030055	96030055	WNK2	9	G	A	A	A	1	0	0	0	0	1	0	0	0	481	37	1	1	17259	117
NANS	54187	broad.mit.edu	37	9	100823174	100823174	+	Silent	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr9:100823174C>T	uc004ayb.2	+	3	885	c.243C>T	c.(241-243)TAC>TAT	p.Y81Y	NANS_uc004ayc.2_Silent_p.Y81Y	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid phosphate synthase	81					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				GGAAGACGTACGGGGAGCACA	0.527													152	222	---	---	---	---	capture	Silent	SNP	100823174	100823174	NANS	9	C	T	T	T	1	0	0	0	0	0	0	0	1	246	19	1	1	10063	117
SVEP1	79987	broad.mit.edu	37	9	113173811	113173811	+	Silent	SNP	G	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr9:113173811G>T	uc010mtz.2	-	37	6517	c.6180C>A	c.(6178-6180)CTC>CTA	p.L2060L	SVEP1_uc010mty.2_Translation_Start_Site	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2060	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GGGCATTGCAGAGAAGCTGGG	0.512													32	35	---	---	---	---	capture	Silent	SNP	113173811	113173811	SVEP1	9	G	T	T	T	1	0	0	0	0	0	0	0	1	418	33	4	4	15308	117
MXRA5	25878	broad.mit.edu	37	X	3228536	3228536	+	Missense_Mutation	SNP	G	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:3228536G>T	uc004crg.3	-	7	7865	c.7708C>A	c.(7708-7710)CCG>ACG	p.P2570T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2570	Ig-like C2-type 10.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGGTGTCGGGGTCCCCGCG	0.622													8	16	---	---	---	---	capture	Missense_Mutation	SNP	3228536	3228536	MXRA5	23	G	T	T	T	1	0	0	0	0	1	0	0	0	559	43	4	4	9913	117
WWC3	55841	broad.mit.edu	37	X	10066544	10066544	+	Splice_Site	SNP	A	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:10066544A>T	uc004csx.3	+	8	856	c.658_splice	c.e8-2	p.F220_splice	WWC3_uc010nds.2_Splice_Site|WWC3_uc010ndt.2_Splice_Site	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3											ovary(4)	4						TGTTCCGGAAAGTTTGTCTTT	0.348													46	69	---	---	---	---	capture	Splice_Site	SNP	10066544	10066544	WWC3	23	A	T	T	T	1	0	0	0	0	0	0	1	0	39	3	5	4	17294	117
IL1RAPL1	11141	broad.mit.edu	37	X	29973596	29973596	+	Missense_Mutation	SNP	C	G	G			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:29973596C>G	uc004dby.2	+	11	2258	c.1750C>G	c.(1750-1752)CTG>GTG	p.L584V		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	584	Cytoplasmic (Potential).|Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						TTTTGGGGAGCTGCAGACTGT	0.507													20	42	---	---	---	---	capture	Missense_Mutation	SNP	29973596	29973596	IL1RAPL1	23	C	G	G	G	1	0	0	0	0	1	0	0	0	363	28	4	4	7584	117
CXorf59	286464	broad.mit.edu	37	X	36103484	36103484	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:36103484C>T	uc004ddk.1	+	5	656	c.470C>T	c.(469-471)TCC>TTC	p.S157F		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	157						integral to membrane				central_nervous_system(1)	1						CAAAAGTTTTCCAGACAGAAT	0.328													63	75	---	---	---	---	capture	Missense_Mutation	SNP	36103484	36103484	CXorf59	23	C	T	T	T	1	0	0	0	0	1	0	0	0	390	30	2	2	4075	117
TEX13A	56157	broad.mit.edu	37	X	104463874	104463874	+	Silent	SNP	G	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:104463874G>A	uc004ema.2	-	5	1114	c.1002C>T	c.(1000-1002)TCC>TCT	p.S334S	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.P335L	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	334						intracellular	zinc ion binding			ovary(2)	2						CCTCCCAGTCGGAAGGCAGCT	0.537													74	88	---	---	---	---	capture	Silent	SNP	104463874	104463874	TEX13A	23	G	A	A	A	1	0	0	0	0	0	0	0	1	507	39	1	1	15661	117
ODZ1	10178	broad.mit.edu	37	X	123514489	123514489	+	Missense_Mutation	SNP	C	A	A			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:123514489C>A	uc004euj.2	-	31	8139	c.8075G>T	c.(8074-8076)GGT>GTT	p.G2692V	ODZ1_uc011muj.1_Missense_Mutation_p.G2698V|ODZ1_uc010nqy.2_Missense_Mutation_p.G2699V	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2692	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CCCATCGTAACCTTGTACCCG	0.463													150	246	---	---	---	---	capture	Missense_Mutation	SNP	123514489	123514489	ODZ1	23	C	A	A	A	1	0	0	0	0	1	0	0	0	234	18	4	4	10739	117
PDZD4	57595	broad.mit.edu	37	X	153069052	153069052	+	Missense_Mutation	SNP	C	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chrX:153069052C>T	uc004fiz.1	-	8	2316	c.2066G>A	c.(2065-2067)CGT>CAT	p.R689H	PDZD4_uc004fiy.1_Missense_Mutation_p.R614H|PDZD4_uc004fix.2_Missense_Mutation_p.R593H|PDZD4_uc004fja.1_Missense_Mutation_p.R695H|PDZD4_uc011mze.1_Missense_Mutation_p.R580H	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	689						cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCTGCTCACGGGCCCGGAT	0.647													63	115	---	---	---	---	capture	Missense_Mutation	SNP	153069052	153069052	PDZD4	23	C	T	T	T	1	0	0	0	0	1	0	0	0	247	19	1	1	11606	117
DUXA	503835	broad.mit.edu	37	19	57669765	57669766	+	Frame_Shift_Ins	INS	-	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr19:57669765_57669766insT	uc002qoa.1	-	4	413_414	c.368_369insA	c.(367-369)AACfs	p.N123fs		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	double homeobox A	123	Homeobox 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		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;0.0123)		CAGGATATGGGTTTTTCATAAA	0.470													115	167	---	---	---	---	capture_indel	Frame_Shift_Ins	INS	57669765	57669766	DUXA	19	-	T	T	T	1	0	1	1	0	0	0	0	0	568	44	5	5	4789	117
WDR1	9948	broad.mit.edu	37	4	10086069	10086070	+	Frame_Shift_Ins	INS	-	T	T			TCGA-12-0615-01	TCGA-12-0615-01									Unknown	Unspecified	Unspecified				Unspecified	g.chr4:10086069_10086070insT	uc003gmf.2	-	9	1319_1320	c.1036_1037insA	c.(1036-1038)ATTfs	p.I346fs	WDR1_uc003gmg.2_Frame_Shift_Ins_p.I206fs|WDR1_uc003gmh.1_RNA|WDR1_uc011bwu.1_Frame_Shift_Ins_p.I181fs|WDR1_uc010idm.2_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	346	WD 6.				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AAGGATATTAATGTGTCCGTCG	0.550													16	36	---	---	---	---	capture_indel	Frame_Shift_Ins	INS	10086069	10086070	WDR1	4	-	T	T	T	1	0	1	1	0	0	0	0	0	52	4	5	5	17153	117
