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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	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	X1000Genome_AA	X1000Genome_AC	X1000Genome_AF	X1000Genome_AFR_AF	X1000Genome_AMR_AF	X1000Genome_AN	X1000Genome_ASN_AF	X1000Genome_AVGPOST	X1000Genome_CIEND	X1000Genome_CIPOS	X1000Genome_END	X1000Genome_ERATE	X1000Genome_EUR_AF	X1000Genome_HOMLEN	X1000Genome_HOMSEQ	X1000Genome_LDAF	X1000Genome_RSQ	X1000Genome_SNPSOURCE	X1000Genome_SVLEN	X1000Genome_SVTYPE	X1000Genome_THETA	X1000Genome_VT	ACHILLES_Lineage_Results_Top_Genes	CGC_Cancer.Germline.Mut	CGC_Cancer.Molecular.Genetics	CGC_Cancer.Somatic.Mut	CGC_Cancer.Syndrome	CGC_Chr	CGC_Chr.Band	CGC_GeneID	CGC_Name	CGC_Other.Germline.Mut	CGC_Tissue.Type	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	COSMIC_overlapping_primary_sites	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	ESP_AA	ESP_AAC	ESP_AA_AC	ESP_AA_AGE	ESP_AA_GTC	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_CA	ESP_CDP	ESP_CG	ESP_CP	ESP_Chromosome	ESP_DBSNP	ESP_DP	ESP_EA_AC	ESP_EA_AGE	ESP_EA_GTC	ESP_EXOME_CHIP	ESP_FG	ESP_GL	ESP_GM	ESP_GS	ESP_GTC	ESP_GTS	ESP_GWAS_PUBMED	ESP_MAF	ESP_PH	ESP_PP	ESP_Position	ESP_TAC	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	HGNC_Accession.Numbers	HGNC_CCDS.IDs	HGNC_Chromosome	HGNC_Date.Modified	HGNC_Date.Name.Changed	HGNC_Date.Symbol.Changed	HGNC_Ensembl.Gene.ID	HGNC_Ensembl.ID.supplied.by.Ensembl.	HGNC_Entrez.Gene.ID	HGNC_Entrez.Gene.ID.supplied.by.NCBI.	HGNC_Enzyme.IDs	HGNC_Gene.family.description	HGNC_HGNC.ID	HGNC_Locus.Group	HGNC_Locus.Type	HGNC_Name.Synonyms	HGNC_OMIM.ID.supplied.by.NCBI.	HGNC_Previous.Names	HGNC_Previous.Symbols	HGNC_Primary.IDs	HGNC_Pubmed.IDs	HGNC_Record.Type	HGNC_RefSeq.IDs	HGNC_RefSeq.supplied.by.NCBI.	HGNC_Secondary.IDs	HGNC_Status	HGNC_Synonyms	HGNC_UCSC.ID.supplied.by.UCSC.	HGNC_UniProt.ID.supplied.by.UniProt.	HGNC_VEGA.IDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	ORegAnno_bin	UniProt_alt_uniprot_accessions	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP.._NR	dbNSFP_GERP.._RS	dbNSFP_GERP.._RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_fold.degenerate	dbNSFP_genename	dbNSFP_hg18_pos.1.coor.	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_id	gene_type	havana_transcript	secondary_variant_classification	strand	transcript_id	variant_classification	variant_type	key	t_ref_count	t_alt_count
ADORA3	140	broad.mit.edu	37	1	112043018	112043018	+	Missense_Mutation	SNP	C	C	T	rs139935750	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:112043018C>T	ENST00000241356.4	-	2	916	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	171					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATTCTCATGACGGAAACAAAT	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL,,	1,4405	2.1+/-5.4	0,1,2202	154	143	147		511,,	4.1	0	1	dbSNP_134	147	13,8587	9.8+/-36.6	0,13,4287	yes	missense,intron,intron	ADORA3	NM_000677.3,NM_001081976.1,NM_020683.6	29,,	0,14,6489	TT,TC,CC	NA	0.1512,0.0227,0.1076	probably-damaging,,	171/319,,	112043018	14,12992	2203	4300	6503	SO:0001583	missense			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933	140	140		GPCR / Class A : Adenosine receptors, Immunoglobulin superfamily / V-set domain containing	268	protein-coding gene	gene with protein product		600445			NA	7607699	Standard	NM_000677, NM_020683	NM_020683	NA	Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.511G>A	1.37:g.112043018C>T	ENSP00000241356:p.Val171Ile	NA	A2A3P4|Q6UWU0|Q9BYZ1	37	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147668	0.57151	2.27E-4	0.001512	ENSG00000121933	ENST00000241356	T	0.36520	1.25	5.01	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.43743	0.1261	M	0.71920	2.185	0.44816	D	0.997825	D	0.59767	0.986	P	0.61800	0.894	T	0.44143	-0.9347	9	0.46703	T	0.11	.	13.1322	0.59389	0.0:0.9212:0.0:0.0787	.	171	P33765	AA3R_HUMAN	I	171	ENSP00000241356:V171I	ENSP00000241356:V171I	V	-	1	0	ADORA3	111844541	1.000000	0.71417	0.014000	0.15608	0.066000	0.16364	4.978000	0.63799	1.241000	0.43820	0.655000	0.94253	GTC	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033065.1		-	ENST00000241356.4	Missense_Mutation	SNP	1 : 112043018 - 112043018 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	790	13
AURKA	6790	broad.mit.edu	37	20	54945655	54945655	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr20:54945655C>T	ENST00000347343.2	-	8	1182	c.915G>A	c.(913-915)atG>atA	p.M305I	AURKA_ENST00000395907.1_Missense_Mutation_p.M305I|AURKA_ENST00000395911.1_Missense_Mutation_p.M305I|AURKA_ENST00000312783.6_Missense_Mutation_p.M305I|AURKA_ENST00000395909.4_Missense_Mutation_p.M305I|AURKA_ENST00000395913.3_Missense_Mutation_p.M305I|AURKA_ENST00000395914.1_Missense_Mutation_p.M305I|AURKA_ENST00000371356.2_Missense_Mutation_p.M305I|AURKA_ENST00000395915.3_Missense_Mutation_p.M305I	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	305	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TCTCATCATGCATCCGACCTT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)							NA				0													70	68	69			NA	NA	20		NA											NA				54945655		2203	4300	6503	SO:0001583	missense			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586	6790	6790		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	11393	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 47, Aurora-A kinase	603072	serine/threonine kinase 15,  serine/threonine kinase 6	STK15, STK6	NA	9174055, 9771714	Standard	NM_003600	NM_003600	NA	Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.915G>A	20.37:g.54945655C>T	ENSP00000216911:p.Met305Ile	NA	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	37	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131488	0.37630	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907	T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059922	0.64402	D	0.000002	T	0.38374	0.1038	N	0.05510	-0.035	0.41098	D	0.985649	B;B;B;B	0.09022	0.0;0.0;0.002;0.002	B;B;B;B	0.09377	0.001;0.0;0.004;0.004	T	0.27971	-1.0058	10	0.21540	T	0.41	-16.2088	10.0328	0.42111	0.0:0.8739:0.0:0.1261	.	237;305;305;305	B4DX16;A3KFJ0;B2R6Z3;O14965	.;.;.;AURKA_HUMAN	I	305	ENSP00000379245:M305I;ENSP00000379250:M305I;ENSP00000216911:M305I;ENSP00000379251:M305I;ENSP00000321591:M305I;ENSP00000360407:M305I;ENSP00000379249:M305I;ENSP00000379247:M305I;ENSP00000379243:M305I	ENSP00000321591:M305I	M	-	3	0	AURKA	54379062	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.650000	0.24858	2.478000	0.83669	0.650000	0.86243	ATG	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079804.3		-	ENST00000347343.2	Missense_Mutation	SNP	20 : 54945655 - 54945655 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	395	35
CACNA1G	8913	broad.mit.edu	37	17	48678109	48678109	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:48678109C>T	ENST00000352832.5	+	17	4016	c.3644C>T	c.(3643-3645)gCg>gTg	p.A1215V	CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1215V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1238V|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A1238V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1215V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1215V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1215V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A1238V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1215V|CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1238V|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1238V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1238					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGGTCCGCGCGTGGATCCGA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	66	62			NA	NA	17		NA											NA				48678109		2079	4212	6291	SO:0001583	missense			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283	8913	8913		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1394	protein-coding gene	gene with protein product		604065			NA	9495342, 16382099	Standard	NM_018896	NM_001256334	NA	Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000352832.5:c.3644C>T	17.37:g.48678109C>T	ENSP00000339302:p.Ala1215Val	NA	O43498|O94770|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	37	CCDS45735.1	.	.	.	.	.	.	.	.	.	.	c	13.30	2.196796	0.38806	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97430	-4.02;-4.02;-4.18;-3.97;-4.02;-4.02;-4.06;-4.13;-4.08;-4.11;-4.12;-4.0;-4.0;-4.07;-4.02;-3.97;-4.05;-4.01;-4.0;-4.05;-4.02;-4.0;-4.05;-4.0;-4.05;-4.05;-4.38	5.46	4.46	0.54185	.	0.272836	0.36409	N	0.002620	D	0.96608	0.8893	L	0.39898	1.24	0.09310	N	0.999999	D;B;B;B;B;B;B;B;B;D;D;B;B;B;B;B;B;B;B;D;D;B;D;B;B;B	0.89917	0.998;0.002;0.001;0.002;0.002;0.003;0.004;0.001;0.004;0.977;0.99;0.001;0.001;0.002;0.002;0.001;0.001;0.003;0.002;0.99;1.0;0.002;0.99;0.001;0.052;0.001	D;B;B;B;B;B;B;B;B;P;P;B;B;B;B;B;B;B;B;P;D;B;P;B;B;B	0.71184	0.95;0.003;0.002;0.005;0.002;0.002;0.004;0.002;0.004;0.565;0.6;0.008;0.003;0.002;0.002;0.002;0.001;0.005;0.002;0.734;0.972;0.003;0.6;0.003;0.003;0.003	D	0.91165	0.4964	10	0.36615	T	0.2	.	8.4476	0.32852	0.1508:0.7688:0.0:0.0804	.	1215;1238;1238;1238;1238;1238;1238;1238;1238;1238;1238;1215;1238;1238;1238;1238;1238;1215;1238;1215;1215;1215;1215;1238;1215;1238	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	V	1215;1215;1238;1215;1215;1215;1238;1238;1215;1238;1238;1238;1238;1238;1238;1215;1238;1238;1238;1238;1215;1238;1238;1238;1238;1238;53	ENSP00000353990:A1215V;ENSP00000339302:A1215V;ENSP00000392390:A1238V;ENSP00000347078:A1215V;ENSP00000409759:A1215V;ENSP00000425522:A1215V;ENSP00000426261:A1238V;ENSP00000425451:A1238V;ENSP00000422407:A1215V;ENSP00000426814:A1238V;ENSP00000427238:A1238V;ENSP00000423112:A1238V;ENSP00000420918:A1238V;ENSP00000426172:A1238V;ENSP00000423045:A1238V;ENSP00000427173:A1215V;ENSP00000426098:A1238V;ENSP00000425698:A1238V;ENSP00000426232:A1238V;ENSP00000423317:A1238V;ENSP00000350979:A1215V;ENSP00000352011:A1238V;ENSP00000414388:A1238V;ENSP00000423155:A1238V;ENSP00000422268:A1238V;ENSP00000421518:A1238V;ENSP00000427697:A53V	ENSP00000339302:A1215V	A	+	2	0	CACNA1G	46033108	0.774000	0.28592	0.063000	0.19743	0.033000	0.12548	1.315000	0.33608	1.243000	0.43853	0.655000	0.94253	GCG	CACNA1G-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367893.2		+	ENST00000352832.5	Missense_Mutation	SNP	17 : 48678109 - 48678109 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	526	16
CASP8	841	broad.mit.edu	37	2	202131315	202131315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:202131315G>T	ENST00000358485.4	+	2	479	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	CASP8_ENST00000392266.3_Nonsense_Mutation_p.E36*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.E36*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.E36*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.E36*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.E36*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.E36*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.E36*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	36					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGGAAGCAAGAACCCATCAA	0.468		NA								HNSCC(4;0.00038)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(82;831 1348 20716 36952 40159)							NA				0													75	76	76			NA	NA	2		NA											NA				202131315		2203	4300	6503	SO:0001587	stop_gained			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012	841	841		Caspases	1509	protein-coding gene	gene with protein product		601763	caspase 8, apoptosis-related cysteine protease		NA	8681376, 8681377	Standard	NM_001228	NM_033355	NA	Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000358485.4:c.283G>T	2.37:g.202131315G>T	ENSP00000351273:p.Glu95*	NA	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	37	CCDS42798.1	.	.	.	.	.	.	.	.	.	.	G	35	5.515100	0.96402	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	.	.	.	5.47	4.56	0.56223	.	0.104160	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.3738	0.74587	0.0:0.1392:0.8607:0.0	.	.	.	.	X	36;36;36;36;36;36;36;36;36;95;36;36;36;36	.	ENSP00000264274:E36X	E	+	1	0	CASP8	201839560	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	5.578000	0.67450	2.554000	0.86153	0.561000	0.74099	GAA	CASP8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256278.3		+	ENST00000358485.4	Nonsense_Mutation	SNP	2 : 202131315 - 202131315 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	337	35
CCR4	1233	broad.mit.edu	37	3	32995416	32995416	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr3:32995416G>A	ENST00000330953.5	+	2	670	c.502G>A	c.(502-504)Gcc>Acc	p.A168T		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	168					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GGCTGTGTTCGCCTCCCTTCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	117	124			NA	NA	3		NA											NA				32995416		2203	4300	6503	SO:0001583	missense			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813	1233	1233		GPCR / Class A : Chemokine receptors : C-C motif, CD molecules	1605	protein-coding gene	gene with protein product		604836			NA	7642634, 8884276	Standard		NM_005508	NA	Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.502G>A	3.37:g.32995416G>A	ENSP00000332659:p.Ala168Thr	NA	Q9ULY6|Q9ULY7	37	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057611	0.76074	.	.	ENSG00000183813	ENST00000330953	T	0.72282	-0.64	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.100694	0.43747	D	0.000528	T	0.73521	0.3597	M	0.62266	1.93	0.51767	D	0.99993	D	0.61697	0.99	P	0.48815	0.591	T	0.76820	-0.2818	10	0.87932	D	0	.	13.2309	0.59943	0.0728:0.0:0.9272:0.0	.	168	P51679	CCR4_HUMAN	T	168	ENSP00000332659:A168T	ENSP00000332659:A168T	A	+	1	0	CCR4	32970420	1.000000	0.71417	0.957000	0.39632	0.843000	0.47879	5.479000	0.66813	2.824000	0.97209	0.655000	0.94253	GCC	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253252.2		+	ENST00000330953.5	Missense_Mutation	SNP	3 : 32995416 - 32995416 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	467	10
DNAH11	8701	broad.mit.edu	37	7	21659575	21659575	+	Splice_Site	SNP	T	T	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:21659575T>A	ENST00000409508.3	+	25	4410	c.4379T>A	c.(4378-4380)gTt>gAt	p.V1460D	DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000328843.6_Splice_Site_p.V1465D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1465	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTACTAGGTTATTACTGAA	0.294		NA							Kartagener syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	72	74			NA	NA	7		NA											NA				21659575		1801	4066	5867	SO:0001630	splice_region_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04				8701	8701		Axonemal dyneins	2942	protein-coding gene	gene with protein product	dynein, ciliary, heavy chain 11, dynein, heavy chain beta-like	603339	dynein, axonemal, heavy polypeptide 11		NA	9256245	Standard	NM_003777	NM_001277115	NA	Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4378-1T>A	7.37:g.21659575T>A		NA	Q9UJ82	37		.	.	.	.	.	.	.	.	.	.	T	18.63	3.665050	0.67700	.	.	ENSG00000105877	ENST00000328843	T	0.60299	0.2	5.47	4.32	0.51571	Dynein heavy chain, domain-2 (1);	0.385085	0.26631	N	0.023319	T	0.49406	0.1555	.	.	.	0.58432	D	0.999999	P	0.42518	0.782	P	0.46172	0.506	T	0.32824	-0.9892	9	0.13470	T	0.59	.	9.897	0.41324	0.0:0.1423:0.0:0.8577	.	1465	Q96DT5	DYH11_HUMAN	D	1465	ENSP00000330671:V1465D	ENSP00000330671:V1465D	V	+	2	0	DNAH11	21626100	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.373000	0.59537	0.910000	0.36722	0.460000	0.39030	GTT	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000326582.6	Missense_Mutation	+	ENST00000409508.3	Splice_Site	SNP	7 : 21659575 - 21659575 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	328	11
DSCAML1	57453	broad.mit.edu	37	11	117387200	117387200	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:117387200C>T	ENST00000321322.6	-	8	1946	c.1945G>A	c.(1945-1947)Gtt>Att	p.V649I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V379I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	589	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTACGTGAACGCTCTGGCTG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	79	86			NA	NA	11		NA											NA				117387200		2201	4296	6497	SO:0001583	missense				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103	57453	57453		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	14656	protein-coding gene	gene with protein product		611782			NA	11453658	Standard	NM_020693	NM_020693	NA	Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1945G>A	11.37:g.117387200C>T	ENSP00000315465:p.Val649Ile	NA	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	37	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098394	0.37048	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.77750	-1.12;-1.12	3.95	3.95	0.45737	Immunoglobulin-like fold (1);	.	.	.	.	T	0.70168	0.3193	L	0.39020	1.185	0.54753	D	0.999985	B	0.32918	0.39	B	0.33846	0.171	T	0.69847	-0.5034	9	0.33141	T	0.24	.	16.528	0.84336	0.0:1.0:0.0:0.0	.	589	Q8TD84	DSCL1_HUMAN	I	379;649;356	ENSP00000434335:V379I;ENSP00000315465:V649I	ENSP00000315465:V649I	V	-	1	0	DSCAML1	116892410	0.998000	0.40836	0.961000	0.40146	0.497000	0.33675	3.807000	0.55591	2.202000	0.70862	0.462000	0.41574	GTT	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392907.2		-	ENST00000321322.6	Missense_Mutation	SNP	11 : 117387200 - 117387200 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	393	18
DSP	1832	broad.mit.edu	37	6	7576570	7576570	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:7576570C>T	ENST00000379802.3	+	19	3015	c.2674C>T	c.(2674-2676)Cgt>Tgt	p.R892C	DSP_ENST00000418664.2_Missense_Mutation_p.R892C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	892	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGGAATTATCGTGATAACTA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	111	110			NA	NA	6		NA											NA				7576570		2203	4300	6503	SO:0001583	missense			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696	1832	1832			3052	protein-coding gene	gene with protein product		125647	desmoplakin (DPI, DPII)		NA	1889810	Standard	NM_004415	NM_004415	NA	Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2674C>T	6.37:g.7576570C>T	ENSP00000369129:p.Arg892Cys	NA	B2RTT2|O75993|Q14189|Q9UHN4	37	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886848	0.91814	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.35789	1.29;1.68	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000002	T	0.39009	0.1062	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	P;P	0.54706	0.642;0.759	T	0.19484	-1.0304	10	0.87932	D	0	.	15.2786	0.73764	0.1401:0.8599:0.0:0.0	.	939;892	Q4LE79;P15924	.;DESP_HUMAN	C	892;892;697	ENSP00000369129:R892C;ENSP00000396591:R892C	ENSP00000369129:R892C	R	+	1	0	DSP	7521569	0.993000	0.37304	0.991000	0.47740	0.937000	0.57800	3.174000	0.50847	2.865000	0.98341	0.655000	0.94253	CGT	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039786.2		+	ENST00000379802.3	Missense_Mutation	SNP	6 : 7576570 - 7576570 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	354	9
EFTUD2	9343	broad.mit.edu	37	17	42961062	42961062	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:42961062C>G	ENST00000426333.2	-	5	678	c.381G>C	c.(379-381)gaG>gaC	p.E127D	EFTUD2_ENST00000592576.1_Missense_Mutation_p.E127D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E92D|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E127D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	127						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTCTGATGAGCTCTGAGTTAT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(10;65 485 10258 29980 30707)							NA				0													125	117	120			NA	NA	17		NA											NA				42961062		2203	4300	6503	SO:0001583	missense			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883	9343	9343			30858	protein-coding gene	gene with protein product	U5 snRNP specific protein, 116 kD	603892			NA	9233818	Standard	NM_004247	NM_004247	NA	Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.381G>C	17.37:g.42961062C>G	ENSP00000392094:p.Glu127Asp	NA	D3DX58|Q9BUR0	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782446	0.31502	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.76839	-1.05;-1.05	5.23	2.11	0.27256	.	0.097934	0.64402	D	0.000002	T	0.63200	0.2491	L	0.37800	1.135	0.51233	D	0.999919	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.51450	-0.8704	10	0.15499	T	0.54	-30.6821	8.7092	0.34374	0.0:0.6381:0.0:0.3619	.	127;127	B4DMC0;Q15029	.;U5S1_HUMAN	D	127;117;92	ENSP00000392094:E127D;ENSP00000385873:E92D	ENSP00000262414:E117D	E	-	3	2	EFTUD2	40316588	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.674000	0.25218	0.778000	0.33520	-0.170000	0.13304	GAG	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448672.1		-	ENST00000426333.2	Missense_Mutation	SNP	17 : 42961062 - 42961062 G PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	460	34
FAM208B	54906	broad.mit.edu	37	10	5788328	5788328	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr10:5788328G>A	ENST00000328090.5	+	15	3569	c.2944G>A	c.(2944-2946)Gat>Aat	p.D982N		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	982											NA						CAGGACTTACGATGGGCCTGG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	90	90			NA	NA	10		NA											NA				5788328		1999	4175	6174	SO:0001583	missense			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021	54906	54906			23484	protein-coding gene	gene with protein product			chromosome 10 open reading frame 18	C10orf18	NA	12477932	Standard	NM_017782	NM_017782	NA	Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2944G>A	10.37:g.5788328G>A	ENSP00000328426:p.Asp982Asn	NA	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	37	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	9.402	1.078209	0.20227	.	.	ENSG00000108021	ENST00000328090	T	0.45276	0.9	4.78	0.349	0.16032	.	0.917993	0.09221	N	0.831886	T	0.37945	0.1022	M	0.68317	2.08	0.09310	N	1	B	0.24576	0.106	B	0.17979	0.02	T	0.29792	-1.0000	10	0.37606	T	0.19	.	7.2506	0.26148	0.4558:0.0:0.5442:0.0	.	982	Q5VWN6	F208B_HUMAN	N	982	ENSP00000328426:D982N	ENSP00000328426:D982N	D	+	1	0	C10orf18	5828334	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	0.206000	0.17375	-0.049000	0.13379	-0.345000	0.07892	GAT	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046571.2		+	ENST00000328090.5	Missense_Mutation	SNP	10 : 5788328 - 5788328 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	455	32
FBXO47	494188	broad.mit.edu	37	17	37119246	37119246	+	Missense_Mutation	SNP	C	C	G	rs140430888	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:37119246C>G	ENST00000378079.2	-	2	232	c.33G>C	c.(31-33)ttG>ttC	p.L11F		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	11										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GGTTGGGAATCAAAGTGAAAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	165	164			NA	NA	17		NA											NA				37119246		2202	4300	6502	SO:0001583	missense				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952	494188	494188		F-boxes /  other	31969	protein-coding gene	gene with protein product		609498			NA	15723337	Standard	NM_001008777	NM_001008777	NA	Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.33G>C	17.37:g.37119246C>G	ENSP00000367319:p.Leu11Phe	NA	B2RTZ4	37	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547742	0.27652	.	.	ENSG00000204952	ENST00000378079	T	0.48201	0.82	4.69	4.69	0.59074	.	0.532223	0.16454	N	0.213717	T	0.30572	0.0769	L	0.32530	0.975	0.35373	D	0.789263	P	0.39216	0.664	B	0.32289	0.143	T	0.29671	-1.0004	10	0.11485	T	0.65	-0.178	11.1322	0.48354	0.0:0.813:0.187:0.0	.	11	Q5MNV8	FBX47_HUMAN	F	11	ENSP00000367319:L11F	ENSP00000367319:L11F	L	-	3	2	FBXO47	34372772	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	1.816000	0.38992	2.151000	0.67156	0.313000	0.20887	TTG	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444073.1		-	ENST00000378079.2	Missense_Mutation	SNP	17 : 37119246 - 37119246 G PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	967	185
FLNA	2316	broad.mit.edu	37	X	153581753	153581753	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:153581753G>T	ENST00000344736.4	-	34	5855	c.5813C>A	c.(5812-5814)aCg>aAg	p.T1938K	FLNA_ENST00000369850.3_Missense_Mutation_p.T1978K|FLNA_ENST00000422373.1_Missense_Mutation_p.T1970K|FLNA_ENST00000369856.3_Missense_Mutation_p.T111K|FLNA_ENST00000360319.4_Missense_Mutation_p.T1970K			P21333	FLNA_HUMAN	filamin A, alpha	1978					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGAGATCCGTCTCTGAGAT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	61	59			NA	NA	X		NA											NA				153581753		2150	4221	6371	SO:0001583	missense			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924	NA	2316			3754	protein-coding gene	gene with protein product	actin binding protein 280	300017	filamin A, alpha (actin binding protein 280)	FLN1, FLN, OPD2, OPD1	NA	8406501, 12612583	Standard		NM_001456	NA	Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000344736.4:c.5813C>A	X.37:g.153581753G>T	ENSP00000358863:p.Thr1938Lys	NA	Q5HY53|Q5HY55|Q8NF52	37		.	.	.	.	.	.	.	.	.	.	G	13.45	2.240312	0.39598	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	T;T;T;T;T	0.73363	0.96;0.96;0.96;-0.74;0.96	5.69	5.69	0.88448	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.144833	0.46442	D	0.000290	T	0.81138	0.4760	L	0.58969	1.84	0.44603	D	0.99757	P;P;B;B	0.50617	0.924;0.937;0.059;0.059	P;P;B;B	0.53518	0.728;0.623;0.022;0.022	T	0.81854	-0.0741	10	0.54805	T	0.06	.	18.8633	0.92281	0.0:0.0:1.0:0.0	.	111;1970;1978;1978	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	K	1970;1970;1978;111;1938	ENSP00000353467:T1970K;ENSP00000416926:T1970K;ENSP00000358866:T1978K;ENSP00000358872:T111K;ENSP00000358863:T1938K	ENSP00000358863:T1938K	T	-	2	0	FLNA	153234947	1.000000	0.71417	0.883000	0.34634	0.592000	0.36648	4.226000	0.58606	2.402000	0.81655	0.436000	0.28706	ACG	FLNA-010	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000130295.1		-	ENST00000344736.4	Missense_Mutation	SNP	X : 153581753 - 153581753 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	447	31
FRMPD4	9758	broad.mit.edu	37	X	12735745	12735745	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:12735745C>T	ENST00000380682.1	+	16	3306	c.2800C>T	c.(2800-2802)Cgc>Tgc	p.R934C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	934					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAACCTCTCCCGCATGTTCTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	117	118			NA	NA	X		NA											NA				12735745		2203	4300	6503	SO:0001583	missense			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933	9758	9758			29007	protein-coding gene	gene with protein product		300838	PDZ domain containing 10	PDZK10, PDZD10	NA	9205841	Standard	XM_045712	NM_014728	NA	Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2800C>T	X.37:g.12735745C>T	ENSP00000370057:p.Arg934Cys	NA	A8K0X9|O15032	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441381	0.63067	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.08193	3.12	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	M	0.70595	2.14	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.00405	-1.1760	10	0.42905	T	0.14	-16.3375	19.1908	0.93666	0.0:1.0:0.0:0.0	.	926;934	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	C	934;925;923	ENSP00000370057:R934C	ENSP00000304583:R923C	R	+	1	0	FRMPD4	12645666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.781000	0.68964	2.483000	0.83821	0.600000	0.82982	CGC	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055771.1		+	ENST00000380682.1	Missense_Mutation	SNP	X : 12735745 - 12735745 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	903	92
GAD2	2572	broad.mit.edu	37	10	26508064	26508064	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr10:26508064G>A	ENST00000376261.3	+	4	882	c.379G>A	c.(379-381)Gat>Aat	p.D127N	GAD2_ENST00000259271.3_Missense_Mutation_p.D127N|GAD2_ENST00000376248.1_Missense_Mutation_p.D13N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	127					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GAAAAGTTTCGATAGATCAAC	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	121	122			NA	NA	10		NA											NA				26508064		2203	4300	6503	SO:0001583	missense			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	2572	2572	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)		NA	2039509	Standard	NM_000818	NM_000818	NA	Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.379G>A	10.37:g.26508064G>A	ENSP00000365437:p.Asp127Asn	NA	Q9UD87	37	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081306	0.94050	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517;ENST00000376248	T;T;T;T	0.59638	1.2;1.2;0.25;1.2	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	M	0.81497	2.545	0.80722	D	1	D;P	0.89917	1.0;0.903	D;B	0.87578	0.998;0.192	T	0.76691	-0.2866	10	0.37606	T	0.19	-20.8562	19.6436	0.95767	0.0:0.0:1.0:0.0	.	127;127	Q4G154;Q05329	.;DCE2_HUMAN	N	127;127;127;13	ENSP00000365437:D127N;ENSP00000259271:D127N;ENSP00000390434:D127N;ENSP00000365424:D13N	ENSP00000259271:D127N	D	+	1	0	GAD2	26548070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.621000	0.88768	0.650000	0.86243	GAT	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047255.1		+	ENST00000376261.3	Missense_Mutation	SNP	10 : 26508064 - 26508064 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	533	11
GDPD5	81544	broad.mit.edu	37	11	75152278	75152278	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:75152278G>A	ENST00000526177.1	-	10	2867	c.989C>T	c.(988-990)gCg>gTg	p.A330V	GDPD5_ENST00000533805.1_Missense_Mutation_p.A223V|GDPD5_ENST00000529721.1_Missense_Mutation_p.A468V|GDPD5_ENST00000336898.3_Missense_Mutation_p.A468V|GDPD5_ENST00000376282.3_Missense_Mutation_p.A349V|GDPD5_ENST00000533784.1_Missense_Mutation_p.A349V|GDPD5_ENST00000443276.2_3'UTR			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	468	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	p.A468V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TGGGACCCCCGCACACCACAG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											105	68	80			NA	NA	11		NA											NA				75152278		2200	4293	6493	SO:0001583	missense			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555	81544	81544			28804	protein-coding gene	gene with protein product		609632			NA	18667693, 17275818	Standard	NM_030792	NM_030792	NA	Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000526177.1:c.989C>T	11.37:g.75152278G>A	ENSP00000434050:p.Ala330Val	NA	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	37		.	.	.	.	.	.	.	.	.	.	g	12.44	1.938166	0.34189	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	4.84	3.93	0.45458	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.567129	0.19640	N	0.109472	T	0.36717	0.0977	L	0.32530	0.975	0.32212	N	0.576458	P;B	0.40360	0.714;0.15	B;B	0.34138	0.176;0.02	T	0.45862	-0.9232	10	0.25751	T	0.34	-13.6432	11.2242	0.48873	0.0897:0.0:0.9103:0.0	.	349;468	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	V	330;349;468;468;223;349;52	ENSP00000434050:A330V;ENSP00000437049:A349V;ENSP00000433214:A468V;ENSP00000337972:A468V;ENSP00000435196:A223V;ENSP00000365459:A349V;ENSP00000435728:A52V	ENSP00000337972:A468V	A	-	2	0	GDPD5	74829926	0.958000	0.32768	0.015000	0.15790	0.379000	0.30106	4.329000	0.59260	1.416000	0.47057	0.645000	0.84053	GCG	GDPD5-007	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000384405.1		-	ENST00000526177.1	Missense_Mutation	SNP	11 : 75152278 - 75152278 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	339	19
GJB1	2705	broad.mit.edu	37	X	70444246	70444246	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:70444246G>A	ENST00000374022.3	+	2	784	c.689G>A	c.(688-690)cGc>cAc	p.R230H	GJB1_ENST00000361726.6_Missense_Mutation_p.R230H|GJB1_ENST00000374029.1_Missense_Mutation_p.R230H	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	230			R -> C (in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques).|R -> L (in CMTX1; localized mainly on the cell membrane forming gap junction-like plaques).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					CCACCTTCCCGCAAGGGCTCG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM973190	GJB1	M							27	22	23			NA	NA	X		NA											NA				70444246		2202	4297	6499	SO:0001583	missense			X04325	CCDS14408.1	Xq13.1	2014-09-17	2007-01-16		ENSG00000169562	ENSG00000169562	2705	2705		Ion channels / Gap junction proteins (connexins)	4283	protein-coding gene	gene with protein product	Charcot-Marie-Tooth neuropathy, X-linked, connexin 32	304040	gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked), gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked), gap junction protein, beta 1, 32kDa (connexin 32)	CMTX1, CMTX	NA	1319395	Standard	NM_000166	NM_000166	NA	Approved	CX32	uc004dzf.3	P08034	OTTHUMG00000021797	ENST00000374022.3:c.689G>A	X.37:g.70444246G>A	ENSP00000363134:p.Arg230His	NA	B2R8R2|D3DVV2|Q5U0S4	37	CCDS14408.1	.	.	.	.	.	.	.	.	.	.	G	9.312	1.055748	0.19907	.	.	ENSG00000169562	ENST00000374029;ENST00000374022;ENST00000361726	D;D;D	0.97642	-4.47;-4.47;-4.47	4.9	4.9	0.64082	.	0.768330	0.12125	N	0.497315	D	0.93220	0.7840	N	0.14661	0.345	0.40423	D	0.979864	B	0.12013	0.005	B	0.08055	0.003	D	0.87941	0.2717	10	0.32370	T	0.25	.	17.2761	0.87115	0.0:0.0:1.0:0.0	.	230	P08034	CXB1_HUMAN	H	230	ENSP00000363141:R230H;ENSP00000363134:R230H;ENSP00000354900:R230H	ENSP00000354900:R230H	R	+	2	0	GJB1	70360971	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	4.144000	0.58057	2.260000	0.74910	0.592000	0.82586	CGC	GJB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057133.1		+	ENST00000374022.3	Missense_Mutation	SNP	X : 70444246 - 70444246 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	161	9
GPR179	440435	broad.mit.edu	37	17	36486065	36486065	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:36486065C>T	ENST00000342292.4	-	11	3407	c.3387G>A	c.(3385-3387)tcG>tcA	p.S1129S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1129						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTAGCCTGGGCGATCGGGAGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	74	73			NA	NA	17		NA											NA				36486065		2002	4169	6171	SO:0001819	synonymous_variant				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399	440435	440435		GPCR / Class C : Orphans	31371	protein-coding gene	gene with protein product		614515	GPR158-like 1, GPR179	GPR158L1	NA		Standard		NM_001004334	NA	Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3387G>A	17.37:g.36486065C>T		NA		37	CCDS42308.1																																																																																			GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255329.2		-	ENST00000342292.4	Silent	SNP	17 : 36486065 - 36486065 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	564	14
GRIN2B	2904	broad.mit.edu	37	12	13717016	13717016	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:13717016G>A	ENST00000609686.1	-	13	3365	c.3156C>T	c.(3154-3156)caC>caT	p.H1052H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	NA					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAAGTCGTCGTGGCCACTGT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	52	55			NA	NA	12		NA											NA				13717016		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079		2904	2904		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4586	protein-coding gene	gene with protein product		138252		NMDAR2B	NA	1350383	Standard		NM_000834	NA	Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3156C>T	12.37:g.13717016G>A		NA	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	37	CCDS8662.1																																																																																			GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268014.2		-	ENST00000609686.1	Silent	SNP	12 : 13717016 - 13717016 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	188	17
HOXD13	3239	broad.mit.edu	37	2	176959381	176959381	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:176959381C>T	ENST00000392539.3	+	2	955	c.955C>T	c.(955-957)Caa>Taa	p.Q319*		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	319					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		ATCTGAGAGACAAGTGACCAT	0.463		NA	T	NUP98	AML*									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		2	2q31-q32	3239	homeo box D13		L	0													89	83	85			NA	NA	2		NA											NA				176959381		2203	4300	6503	SO:0001587	stop_gained			AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714	3239	3239		Homeoboxes / ANTP class : HOXL subclass	5136	protein-coding gene	gene with protein product		142989	homeo box D13	HOX4I, SPD	NA	2574852, 1973146	Standard		NM_000523	NA	Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.955C>T	2.37:g.176959381C>T	ENSP00000376322:p.Gln319*	NA		37	CCDS2264.2	.	.	.	.	.	.	.	.	.	.	C	33	5.265300	0.95399	.	.	ENSG00000128714	ENST00000392539	.	.	.	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5076	0.90902	0.0:1.0:0.0:0.0	.	.	.	.	X	319	.	ENSP00000376322:Q319X	Q	+	1	0	HOXD13	176667627	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.609000	0.82925	2.687000	0.91594	0.655000	0.94253	CAA	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359256.1		+	ENST00000392539.3	Nonsense_Mutation	SNP	2 : 176959381 - 176959381 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	392	19
ITGA3	3675	broad.mit.edu	37	17	48151552	48151552	+	Silent	SNP	C	C	T	rs78768954	byFrequency	TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:48151552C>T	ENST00000320031.8	+	9	1620	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	ITGA3_ENST00000544892.1_Silent_p.F205F|ITGA3_ENST00000007722.7_Silent_p.F430F	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	430					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TGGCCACCTTCGGCTATTCCC	0.612		NA											C	2	9e-04	0.0041	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	9e-04	1	EXOME	NA	NA	7e-04	SNP								NA				0								C	,	14,4392	20.2+/-43.8	0,14,2189	104	99	101		1290,1290	-5.8	0.9	17	dbSNP_134	101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ITGA3	NM_002204.2,NM_005501.2	,	0,14,6489	TT,TC,CC	NA	0.0,0.3177,0.1076	,	430/1052,430/1067	48151552	14,12992	2203	4300	6503	SO:0001819	synonymous_variant			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884	3675	3675		CD molecules, Integrins	6139	protein-coding gene	gene with protein product		605025	antigen identified by monoclonal antibody J143	MSK18	NA	1655803, 9704023	Standard	NM_005501	NM_005501	NA	Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.1290C>T	17.37:g.48151552C>T		NA	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	37	CCDS11558.1																																																																																			ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366298.1		+	ENST00000320031.8	Silent	SNP	17 : 48151552 - 48151552 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	935	18
ITIH6	347365	broad.mit.edu	37	X	54784236	54784236	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:54784236C>T	ENST00000218436.6	-	8	2300	c.2271G>A	c.(2269-2271)agG>agA	p.R757R		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	757	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity				NA						GGACTTGTGTCCTGGAGTTCG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	111	114			NA	NA	X		NA											NA				54784236		2203	4300	6503	SO:0001819	synonymous_variant			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313	347365	347365			28907	protein-coding gene	gene with protein product			inter-alpha (globulin) inhibitor H5-like	ITIH5L	NA	12975309	Standard	NM_198510	NM_198510	NA	Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2271G>A	X.37:g.54784236C>T		NA	A6NN03	37	CCDS14361.1																																																																																			ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056814.2		-	ENST00000218436.6	Silent	SNP	X : 54784236 - 54784236 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	565	23
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:25380276T>C	ENST00000311936.3	-	3	373	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	141	Substitution - Missense(141)	large_intestine(63)|lung(27)|thyroid(14)|haematopoietic_and_lymphoid_tissue(9)|pancreas(6)|skin(5)|stomach(3)|cervix(3)|upper_aerodigestive_tract(2)|soft_tissue(1)|central_nervous_system(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|gastrointestinal_tract_(site_indeterminate)(1)|breast(1)|prostate(1)|kidney(1)											109	97	101			NA	NA	12		NA											NA				25380276		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.182A>G	12.37:g.25380276T>C	ENSP00000308495:p.Gln61Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022613	0.75275	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83673	-1.75;-1.75	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.88358	0.6415	M	0.92367	3.3	0.80722	D	1	B;B	0.26744	0.158;0.026	B;B	0.32805	0.135;0.153	D	0.87885	0.2680	10	0.66056	D	0.02	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	R	61	ENSP00000308495:Q61R;ENSP00000256078:Q61R	ENSP00000256078:Q61R	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25380276 - 25380276 C PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	0	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971102	31971102	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr21:31971102C>T	ENST00000334897.3	-	1	117	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	31						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						ATAGCCACAGCGCAGGCTTCC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	122	131			NA	NA	21		NA											NA				31971102		2203	4300	6503	SO:0001583	missense			AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930	337967	337967		Keratin associated proteins	18932	protein-coding gene	gene with protein product					NA	12359730	Standard		NM_181604	NA	Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.92G>A	21.37:g.31971102C>T	ENSP00000334560:p.Arg31His	NA		37	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	C	6.908	0.537123	0.13188	.	.	ENSG00000186930	ENST00000334897	T	0.31510	1.49	2.52	1.63	0.23807	.	.	.	.	.	T	0.19366	0.0465	.	.	.	0.09310	N	0.999999	B	0.28605	0.217	B	0.12837	0.008	T	0.19451	-1.0305	8	0.87932	D	0	.	5.1408	0.14957	0.0:0.8308:0.0:0.1692	.	31	Q3LI66	KRA62_HUMAN	H	31	ENSP00000334560:R31H	ENSP00000334560:R31H	R	-	2	0	KRTAP6-2	30892973	0.999000	0.42202	1.000000	0.80357	0.515000	0.34225	0.851000	0.27751	0.622000	0.30249	0.650000	0.86243	CGC	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128246.3		-	ENST00000334897.3	Missense_Mutation	SNP	21 : 31971102 - 31971102 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	367	31
LRFN2	57497	broad.mit.edu	37	6	40399611	40399611	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:40399611G>A	ENST00000338305.6	-	2	1784	c.1242C>T	c.(1240-1242)ggC>ggT	p.G414G		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	414						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGGCTCTCCGCCCCCACTGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	41	45	44		1242	-4.3	0.8	6		44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRFN2	NM_020737.1		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		414/790	40399611	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564	57497	57497		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	21226	protein-coding gene	gene with protein product	fibronectin type III, immunoglobulin and leucine rich repeat domains 2	612808	KIAA1246	KIAA1246, SALM1	NA	16495444, 16828986	Standard	XM_166372	NM_020737	NA	Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1242C>T	6.37:g.40399611G>A		NA	A5PKU3|Q5SYP9	37	CCDS34443.1																																																																																			LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040488.1		-	ENST00000338305.6	Silent	SNP	6 : 40399611 - 40399611 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	390	38
LRRK1	79705	broad.mit.edu	37	15	101593294	101593294	+	Splice_Site	SNP	G	G	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr15:101593294G>T	ENST00000388948.3	+	25	4215		c.e25+1		LRRK1_ENST00000284395.5_Splice_Site|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	NA					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTACCGGCAGGTAAGCGGGTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													35	42	40			NA	NA	15		NA											NA				101593294		2041	4179	6220	SO:0001630	splice_region_variant			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237	79705	79705			18608	protein-coding gene	gene with protein product		610986			NA	11347906, 14654223	Standard	NM_024652	XM_005254979	NA	Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3856+1G>T	15.37:g.101593294G>T		NA	Q6NVH5|Q6NYC0|Q6ZNL9|Q6ZNM9|Q96JN5|Q9H5S3	37	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	8.642	0.896292	0.17686	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0726	0.59070	0.0:0.0:0.8402:0.1598	.	.	.	.	.	-1	.	.	.	+	.	.	LRRK1	99410817	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	5.192000	0.65115	2.352000	0.79861	0.650000	0.86243	.	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000384567.2	Intron	+	ENST00000388948.3	Splice_Site	SNP	15 : 101593294 - 101593294 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	209	17
MICAL2	9645	broad.mit.edu	37	11	12278458	12278458	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr11:12278458C>T	ENST00000256194.4	+	24	3370	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C	MICAL2_ENST00000379612.3_Missense_Mutation_p.R802C|MICAL2_ENST00000537344.1_Missense_Mutation_p.R838C|MICAL2_ENST00000342902.5_Missense_Mutation_p.R1007C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R838C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1028	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GGAGTGTTTCCGCTGCAGCAT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	91	98			NA	NA	11		NA											NA				12278458		2201	4294	6495	SO:0001583	missense			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816	9645	9645			24693	protein-coding gene	gene with protein product		608881			NA	12110185	Standard	NM_014632	XM_005253249	NA	Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3082C>T	11.37:g.12278458C>T	ENSP00000256194:p.Arg1028Cys	NA	D3DQW5|Q7Z3A8	37	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832011	0.71258	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	5.17	3.13	0.36017	Zinc finger, LIM-type (5);	0.145385	0.40064	N	0.001192	D	0.89829	0.6828	M	0.69463	2.115	0.43734	D	0.996226	D;B;B;D;B;B	0.89917	1.0;0.015;0.019;0.977;0.019;0.024	D;B;B;P;B;B	0.65874	0.939;0.007;0.005;0.832;0.008;0.024	D	0.88234	0.2905	10	0.54805	T	0.06	.	5.9676	0.19334	0.4069:0.4919:0.0:0.1012	.	371;1007;838;781;802;1028	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	C	838;371;1028;838;1007;802	ENSP00000441689:R838C;ENSP00000256194:R1028C;ENSP00000433965:R838C;ENSP00000344894:R1007C;ENSP00000368932:R802C	ENSP00000256194:R1028C	R	+	1	0	MICAL2	12235034	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.222000	0.58580	1.180000	0.42898	0.655000	0.94253	CGC	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385993.1		+	ENST00000256194.4	Missense_Mutation	SNP	11 : 12278458 - 12278458 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	399	32
MYO10	4651	broad.mit.edu	37	5	16694499	16694499	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:16694499C>T	ENST00000513610.1	-	27	4235	c.3781G>A	c.(3781-3783)Gta>Ata	p.V1261I	MYO10_ENST00000515803.1_Missense_Mutation_p.V600I|MYO10_ENST00000274203.9_Missense_Mutation_p.V618I|MYO10_ENST00000505695.1_Missense_Mutation_p.V600I|MYO10_ENST00000427430.2_Missense_Mutation_p.V618I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1261	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGCACTTCTACGGTGCCCTTG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	ILE/VAL	0,4090		0,0,2045	149	151	150		3781	-6.1	0	5		150	1,8401		0,1,4200	no	missense	MYO10	NM_012334.2	29	0,1,6245	TT,TC,CC	NA	0.0119,0.0,0.0080	benign	1261/2059	16694499	1,12491	2045	4201	6246	SO:0001583	missense			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555	4651	4651		Myosins / Myosin superfamily : Class X, Pleckstrin homology (PH) domain containing	7593	protein-coding gene	gene with protein product		601481			NA	8884266	Standard	NM_012334	NM_012334	NA	Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3781G>A	5.37:g.16694499C>T	ENSP00000421280:p.Val1261Ile	NA	A7E2D1|O94893|Q9NYM7|Q9P110|Q9P111|Q9UHF6	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.452233	0.01080	0.0	1.19E-4	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.33	-6.13	0.02118	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.21307	0.0513	N	0.01800	-0.715	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.08055	0.0;0.0;0.003	T	0.32981	-0.9886	9	0.02654	T	1	.	2.5747	0.04803	0.5273:0.0964:0.1871:0.1893	.	140;902;1261	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	I	1261;600;618;600;618	ENSP00000421280:V1261I;ENSP00000425051:V600I;ENSP00000274203:V618I;ENSP00000421170:V600I;ENSP00000391106:V618I	ENSP00000274203:V618I	V	-	1	0	MYO10	16747499	0.003000	0.15002	0.024000	0.17045	0.416000	0.31233	-0.127000	0.10547	-0.714000	0.04975	-0.274000	0.10170	GTA	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366167.1		-	ENST00000513610.1	Missense_Mutation	SNP	5 : 16694499 - 16694499 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	907	65
NLRP8	126205	broad.mit.edu	37	19	56466562	56466562	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:56466562T>A	ENST00000291971.3	+	3	1209	c.1138T>A	c.(1138-1140)Ttg>Atg	p.L380M	NLRP8_ENST00000590542.1_Missense_Mutation_p.L380M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	380	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGACCAAGTCTTGAGTTTCGC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	78	80			NA	NA	19		NA											NA				56466562		2203	4300	6503	SO:0001583	missense			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709	126205	126205		Nucleotide-binding domain and leucine rich repeat containing	22940	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8	609659	NACHT, leucine rich repeat and PYD containing 8	NALP8	NA	12563287	Standard	NM_176811	NM_176811	NA	Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1138T>A	19.37:g.56466562T>A	ENSP00000291971:p.Leu380Met	NA	Q7RTR4	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	T	8.935	0.964412	0.18583	.	.	ENSG00000179709	ENST00000291971	T	0.77750	-1.12	2.04	-4.08	0.03963	.	.	.	.	.	T	0.80999	0.4732	M	0.70595	2.14	0.09310	N	1	D;D	0.76494	0.999;0.992	D;D	0.69824	0.966;0.957	T	0.69723	-0.5068	9	0.62326	D	0.03	.	1.0278	0.01531	0.1712:0.2645:0.3455:0.2188	.	380;380	Q86W28-2;Q86W28	.;NALP8_HUMAN	M	380	ENSP00000291971:L380M	ENSP00000291971:L380M	L	+	1	2	NLRP8	61158374	0.021000	0.18746	0.000000	0.03702	0.008000	0.06430	-0.103000	0.10940	-1.828000	0.01202	-1.436000	0.01078	TTG	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457462.1		+	ENST00000291971.3	Missense_Mutation	SNP	19 : 56466562 - 56466562 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	597	16
NLRP8	126205	broad.mit.edu	37	19	56466153	56466153	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:56466153C>A	ENST00000291971.3	+	3	800	c.729C>A	c.(727-729)ttC>ttA	p.F243L	NLRP8_ENST00000590542.1_Missense_Mutation_p.F243L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	243	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTTCTACTTCCATTGCCAAG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	117	121			NA	NA	19		NA											NA				56466153		2203	4300	6503	SO:0001583	missense			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709	126205	126205		Nucleotide-binding domain and leucine rich repeat containing	22940	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8	609659	NACHT, leucine rich repeat and PYD containing 8	NALP8	NA	12563287	Standard	NM_176811	NM_176811	NA	Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.729C>A	19.37:g.56466153C>A	ENSP00000291971:p.Phe243Leu	NA	Q7RTR4	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	1.476	-0.558500	0.03967	.	.	ENSG00000179709	ENST00000291971	T	0.76186	-1.0	2.04	2.04	0.26737	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.46347	0.1388	N	0.05050	-0.12	0.26881	N	0.967548	B;B	0.18610	0.029;0.007	B;B	0.20577	0.018;0.03	T	0.39375	-0.9617	9	0.02654	T	1	.	7.6199	0.28179	0.0:1.0:0.0:0.0	.	243;243	Q86W28-2;Q86W28	.;NALP8_HUMAN	L	243	ENSP00000291971:F243L	ENSP00000291971:F243L	F	+	3	2	NLRP8	61157965	0.000000	0.05858	0.039000	0.18376	0.132000	0.20833	-0.407000	0.07178	1.453000	0.47775	0.514000	0.50259	TTC	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457462.1		+	ENST00000291971.3	Missense_Mutation	SNP	19 : 56466153 - 56466153 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	847	145
NRDE2	55051	broad.mit.edu	37	14	90770393	90770393	+	Silent	SNP	G	G	A	rs147340971		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr14:90770393G>A	ENST00000354366.3	-	5	1123	c.891C>T	c.(889-891)gaC>gaT	p.D297D	NRDE2_ENST00000357904.3_Silent_p.D66D	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing	NA											NA						CTGGCTGTGCGTCTGGCTGCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4406		0,0,2203	158	145	149		891,198	0.4	0.1	14	dbSNP_134	149	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	C14orf102	NM_017970.3,NM_199043.1	,	0,4,6499	AA,AG,GG	NA	0.0465,0.0,0.0308	,	297/1165,66/934	90770393	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720	55051	55051			20186	protein-coding gene	gene with protein product			chromosome 14 open reading frame 102	C14orf102	NA		Standard	NM_017970	NM_017970	NA	Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.891C>T	14.37:g.90770393G>A		NA		37	CCDS9890.1																																																																																			NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411264.1		-	ENST00000354366.3	Silent	SNP	14 : 90770393 - 90770393 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	808	74
NTRK1	4914	broad.mit.edu	37	1	156849848	156849848	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:156849848C>T	ENST00000368196.3	+	15	2206	c.2086C>T	c.(2086-2088)Cgt>Tgt	p.R696C	NTRK1_ENST00000392302.2_Missense_Mutation_p.R666C|NTRK1_ENST00000524377.1_Missense_Mutation_p.R702C|NTRK1_ENST00000358660.3_Missense_Mutation_p.R699C|NTRK1_ENST00000531606.1_3'UTR	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	702	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CATCCTGTACCGTAAGTTCAC	0.637		NA	T	TPM3, TPR, TFG	papillary thyroid					TSP Lung(10;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		1	1q21-q22	4914	neurotrophic tyrosine kinase, receptor, type 1		E	0								C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	81	76	78		1996,2086,2104	4.2	1	1		78	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense,missense	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	180,180,180	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	666/761,696/791,702/797	156849848	2,13004	2203	4300	6503	SO:0001583	missense			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	4914	4914	2.7.10.1	Immunoglobulin superfamily / Immunoglobulin-like domain containing	8031	protein-coding gene	gene with protein product	high affinity nerve growth factor receptor	191315			NA	2869410	Standard	NM_002529	NM_001007792	NA	Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000368196.3:c.2086C>T	1.37:g.156849848C>T	ENSP00000357179:p.Arg696Cys	NA	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	37	CCDS30891.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490712	0.64074	0.0	2.33E-4	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	4.23	4.23	0.50019	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000030	D	0.85305	0.5666	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.921;0.938;0.99	D	0.86696	0.1926	10	0.87932	D	0	.	11.0171	0.47696	0.1861:0.8139:0.0:0.0	.	699;696;702;666	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	C	666;696;702;699	ENSP00000376120:R666C;ENSP00000357179:R696C;ENSP00000431418:R702C;ENSP00000351486:R699C	ENSP00000351486:R699C	R	+	1	0	NTRK1	155116472	0.981000	0.34729	1.000000	0.80357	0.912000	0.54170	0.138000	0.16016	2.362000	0.80069	0.561000	0.74099	CGT	NTRK1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000098979.1		+	ENST00000368196.3	Missense_Mutation	SNP	1 : 156849848 - 156849848 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	525	51
NUAK2	81788	broad.mit.edu	37	1	205273591	205273591	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:205273591C>T	ENST00000367157.3	-	7	1000	c.874G>A	c.(874-876)Gcc>Acc	p.A292T		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	292	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCCAGGGTGGCCCGGCGGGTG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	14			NA	NA	1		NA											NA				205273591		2196	4293	6489	SO:0001583	missense			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545	81788	81788			29558	protein-coding gene	gene with protein product	SNF1/AMP activated protein kinase	608131			NA	11230166	Standard	NM_030952	NM_030952	NA	Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.874G>A	1.37:g.205273591C>T	ENSP00000356125:p.Ala292Thr	NA		37	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319851	0.95682	.	.	ENSG00000163545	ENST00000367157	T	0.24908	1.83	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42172	D	0.000754	T	0.51483	0.1677	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54351	-0.8307	10	0.72032	D	0.01	.	18.1508	0.89674	0.0:1.0:0.0:0.0	.	292	Q9H093	NUAK2_HUMAN	T	292	ENSP00000356125:A292T	ENSP00000356125:A292T	A	-	1	0	NUAK2	203540214	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.474000	0.81024	2.375000	0.81037	0.511000	0.50034	GCC	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090390.1		-	ENST00000367157.3	Missense_Mutation	SNP	1 : 205273591 - 205273591 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	71	4
PADI3	51702	broad.mit.edu	37	1	17609365	17609365	+	Missense_Mutation	SNP	C	C	A	rs147308107		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:17609365C>A	ENST00000375460.3	+	16	1826	c.1786C>A	c.(1786-1788)Cac>Aac	p.H596N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	596					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCTGGGGAAGCACCTGGGCAT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	46	50			NA	NA	1		NA											NA				17609365		2203	4300	6503	SO:0001583	missense			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	51702	51702	3.5.3.15	Peptidyl arginine deiminases	18337	protein-coding gene	gene with protein product		606755			NA	11069618	Standard		NM_016233	NA	Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1786C>A	1.37:g.17609365C>A	ENSP00000364609:p.His596Asn	NA	Q58EY7|Q70SX5	37	CCDS179.1	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200613	0.22121	.	.	ENSG00000142619	ENST00000375460	T	0.21191	2.02	5.13	-0.204	0.13200	Protein-arginine deiminase, C-terminal (1);	0.384936	0.29172	N	0.012929	T	0.14399	0.0348	L	0.45228	1.405	0.33681	D	0.61211	B	0.30937	0.301	B	0.35727	0.209	T	0.29882	-0.9997	10	0.12103	T	0.63	-15.6138	5.9736	0.19367	0.0:0.2911:0.1484:0.5604	.	596	Q9ULW8	PADI3_HUMAN	N	596	ENSP00000364609:H596N	ENSP00000364609:H596N	H	+	1	0	PADI3	17481952	0.000000	0.05858	0.806000	0.32338	0.993000	0.82548	-1.294000	0.02767	-0.086000	0.12550	-0.143000	0.13931	CAC	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006805.1		+	ENST00000375460.3	Missense_Mutation	SNP	1 : 17609365 - 17609365 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	82	7
PCDHB1	29930	broad.mit.edu	37	5	140431928	140431928	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:140431928G>A	ENST00000306549.3	+	1	950	c.873G>A	c.(871-873)acG>acA	p.T291T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	291	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T291T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCAAGACGTTTCAGATTG	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											73	74	74			NA	NA	5		NA											NA				140431928		2203	4300	6503	SO:0001819	synonymous_variant			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815	29930	29930		Cadherins / Protocadherins : Clustered	8680	other	protocadherin		606327			NA	10380929	Standard	NM_013340	NM_013340	NA	Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.873G>A	5.37:g.140431928G>A		NA	Q2M257	37	CCDS4243.1																																																																																			PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251822.2		+	ENST00000306549.3	Silent	SNP	5 : 140431928 - 140431928 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	349	31
PCDHGA7	56108	broad.mit.edu	37	5	140764634	140764634	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:140764634G>A	ENST00000518325.1	+	1	2168	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1			protocadherin gamma subfamily A, 7	NA										NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAAGTCACGCCTGCTGCAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	59	57			NA	NA	5		NA											NA				140764634		2202	4300	6502	SO:0001583	missense			AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537	56108	56108		Cadherins / Protocadherins : Clustered	8705	other	protocadherin		606294			NA	10380929	Standard	NM_018920	NM_018920	NA	Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2168G>A	5.37:g.140764634G>A	ENSP00000430024:p.Arg723His	NA		37	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	12.76	2.033890	0.35893	.	.	ENSG00000253537	ENST00000518325	T	0.51574	0.7	4.73	0.789	0.18607	.	.	.	.	.	T	0.37461	0.1004	L	0.49699	1.58	0.09310	N	1	B;B	0.20550	0.013;0.046	B;B	0.18263	0.009;0.021	T	0.31861	-0.9928	9	0.49607	T	0.09	.	5.0984	0.14747	0.5194:0.0:0.3384:0.1421	.	723;723	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	H	723	ENSP00000430024:R723H	ENSP00000430024:R723H	R	+	2	0	PCDHGA7	140744818	0.000000	0.05858	0.001000	0.08648	0.147000	0.21601	0.046000	0.14035	0.155000	0.19261	0.563000	0.77884	CGC	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374744.1		+	ENST00000518325.1	Missense_Mutation	SNP	5 : 140764634 - 140764634 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	358	27
PPEF1	5475	broad.mit.edu	37	X	18797154	18797154	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chrX:18797154G>A	ENST00000361511.4	+	10	1079	c.585G>A	c.(583-585)ccG>ccA	p.P195P	PPEF1_ENST00000543630.1_Silent_p.P195P|PPEF1_ENST00000359763.6_Silent_p.P142P|PPEF1_ENST00000544635.1_Silent_p.P130P|PPEF1_ENST00000349874.5_Silent_p.P195P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	195	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGAGGAACCCGTATGTTTTTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	157	156			NA	NA	X		NA											NA				18797154		2203	4300	6503	SO:0001819	synonymous_variant			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717	5475	5475		Serine/threonine phosphatases / Protein phosphatase, catalytic subunits, EF-hand domain containing	9243	protein-coding gene	gene with protein product	protein phosphatase 7, catalytic subunit, alpha isozyme	300109		PPEF	NA	9215685, 9326663	Standard	NM_006240	NM_152224	NA	Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.585G>A	X.37:g.18797154G>A		NA	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	37	CCDS14188.1																																																																																			PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055953.3		+	ENST00000361511.4	Silent	SNP	X : 18797154 - 18797154 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	887	71
PRKRA	8575	broad.mit.edu	37	2	179300952	179300952	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:179300952C>A	ENST00000325748.4	-	7	904	c.704G>T	c.(703-705)aGt>aTt	p.S235I	PRKRA_ENST00000487082.1_Missense_Mutation_p.S210I|PRKRA_ENST00000432031.2_Missense_Mutation_p.S224I|PRKRA_ENST00000438687.3_Missense_Mutation_p.S122I|AC009948.5_ENST00000453026.2_RNA	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	235	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			ATTTGGAATACTAAGGAGGCT	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(200;68 3001 23825 48764)							NA				0													153	179	170			NA	NA	2		NA											NA				179300952		2203	4300	6503	SO:0001583	missense			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228	8575	8575			9438	protein-coding gene	gene with protein product	protein activator of the interferon-induced protein kinase	603424			NA	9687506, 10336432	Standard	NM_003690	NM_003690	NA	Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.704G>T	2.37:g.179300952C>A	ENSP00000318176:p.Ser235Ile	NA	A8K3I6|Q53G24|Q6X7T5|Q8NDK4	37	CCDS2279.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956621	0.92726	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.89086	0.6615	M	0.62723	1.935	0.52501	D	0.999959	D;P	0.67145	0.996;0.885	P;B	0.62382	0.901;0.31	D	0.89369	0.3673	10	0.72032	D	0.01	.	17.2511	0.87042	0.0:1.0:0.0:0.0	.	235;224	O75569;O75569-2	PRKRA_HUMAN;.	I	235;122;210;224	ENSP00000318176:S235I;ENSP00000398980:S122I;ENSP00000430604:S210I;ENSP00000393883:S224I	ENSP00000318176:S235I	S	-	2	0	PRKRA	179009198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.734000	0.55037	2.822000	0.97130	0.650000	0.86243	AGT	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255782.2		-	ENST00000325748.4	Missense_Mutation	SNP	2 : 179300952 - 179300952 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	1174	47
PTPN14	5784	broad.mit.edu	37	1	214556939	214556939	+	Silent	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:214556939G>A	ENST00000366956.5	-	13	2453	c.2259C>T	c.(2257-2259)ccC>ccT	p.P753P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	753					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCCTTGGACCGGGGTACTCAG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(92;557 1424 24372 34121 40073)							NA				0													31	36	34			NA	NA	1		NA											NA				214556939		2203	4299	6502	SO:0001819	synonymous_variant			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104	5784	5784		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9647	protein-coding gene	gene with protein product		603155			NA	7733990	Standard	NM_005401	NM_005401	NA	Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2259C>T	1.37:g.214556939G>A		NA	Q5VSI0	37	CCDS1514.1																																																																																			PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089918.2		-	ENST00000366956.5	Silent	SNP	1 : 214556939 - 214556939 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	343	10
PTPRU	10076	broad.mit.edu	37	1	29630479	29630479	+	Silent	SNP	G	G	A	rs145675393		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:29630479G>A	ENST00000373779.3	+	16	2718	c.2589G>A	c.(2587-2589)gcG>gcA	p.A863A	PTPRU_ENST00000356870.3_Silent_p.A863A|PTPRU_ENST00000428026.2_Silent_p.A863A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Silent_p.A863A|PTPRU_ENST00000345512.3_Silent_p.A873A|PTPRU_ENST00000323874.8_Silent_p.A863A	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	873	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCACCCTGCGGTGCGTGTCG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	52	51			NA	NA	1		NA											NA				29630479		2203	4300	6503	SO:0001819	synonymous_variant			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656	10076	10076		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9683	protein-coding gene	gene with protein product	pi R-PTP-Psi	602454			NA	8700514, 9434160	Standard		NM_133178	NA	Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000373779.3:c.2589G>A	1.37:g.29630479G>A		NA	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	37	CCDS335.1																																																																																			PTPRU-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010445.2		+	ENST00000373779.3	Silent	SNP	1 : 29630479 - 29630479 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	322	8
PTPRU	10076	broad.mit.edu	37	1	29630460	29630460	+	Missense_Mutation	SNP	C	C	T	rs146215972		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr1:29630460C>T	ENST00000373779.3	+	16	2699	c.2570C>T	c.(2569-2571)aCg>aTg	p.T857M	PTPRU_ENST00000356870.3_Missense_Mutation_p.T857M|PTPRU_ENST00000428026.2_Missense_Mutation_p.T857M|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Missense_Mutation_p.T857M|PTPRU_ENST00000345512.3_Missense_Mutation_p.T867M|PTPRU_ENST00000323874.8_Missense_Mutation_p.T857M	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	867	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCATACCACACGGGGCAGCTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	46	50	49		2570,2600,2570,2570	4.1	1	1	dbSNP_134	49	0,8600		0,0,4300	no	missense,missense,missense,missense	PTPRU	NM_001195001.1,NM_005704.4,NM_133177.3,NM_133178.3	81,81,81,81	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	857/1434,867/1447,857/1441,857/1437	29630460	1,13005	2203	4300	6503	SO:0001583	missense			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656	10076	10076		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9683	protein-coding gene	gene with protein product	pi R-PTP-Psi	602454			NA	8700514, 9434160	Standard		NM_133178	NA	Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000373779.3:c.2570C>T	1.37:g.29630460C>T	ENSP00000362884:p.Thr857Met	NA	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	37	CCDS335.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647094	0.87958	2.27E-4	0.0	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.35973	1.33;1.34;1.34;1.34;1.28;1.34	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	L	0.57536	1.79	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;P;P	0.66351	0.943;0.943;0.943;0.879;0.868	T	0.52079	-0.8623	9	.	.	.	.	16.6429	0.85134	0.0:1.0:0.0:0.0	.	857;857;857;857;867	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	M	867;857;857;857;857;857	ENSP00000334941:T867M;ENSP00000362884:T857M;ENSP00000349333:T857M;ENSP00000314987:T857M;ENSP00000392332:T857M;ENSP00000432906:T857M	.	T	+	2	0	PTPRU	29503047	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	7.535000	0.82014	2.592000	0.87571	0.561000	0.74099	ACG	PTPRU-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000010445.2		+	ENST00000373779.3	Missense_Mutation	SNP	1 : 29630460 - 29630460 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	384	17
SCN9A	6335	broad.mit.edu	37	2	167162315	167162315	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr2:167162315C>T	ENST00000409672.1	-	5	929	c.583G>A	c.(583-585)Gtc>Atc	p.V195I	SCN9A_ENST00000375387.4_Missense_Mutation_p.V196I|SCN9A_ENST00000303354.6_Missense_Mutation_p.V196I|SCN9A_ENST00000409435.1_Missense_Mutation_p.V195I	NM_002977.3	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	195						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V195I(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAAACAATGACGACAAAATCC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	urinary_tract(1)|central_nervous_system(1)											74	72	73			NA	NA	2		NA											NA				167162315		1856	4115	5971	SO:0001583	missense			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432	6335	6335		Sodium channels, Voltage-gated ion channels / Sodium channels	10597	protein-coding gene	gene with protein product		603415	sodium channel, voltage-gated, type IX, alpha polypeptide		NA	7720699, 10198179, 16382098	Standard	NM_002977	NM_002977	NA	Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409672.1:c.583G>A	2.37:g.167162315C>T	ENSP00000386306:p.Val195Ile	NA	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	37	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	c	15.78	2.932998	0.52866	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	6.16	4.38	0.52667	Ion transport (1);	0.626925	0.14981	N	0.287256	D	0.98210	0.9408	L	0.42487	1.325	0.48901	D	0.999722	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.962;0.996;0.99	D	0.97493	1.0055	10	0.87932	D	0	.	13.154	0.59505	0.0:0.871:0.0:0.129	.	195;195;196	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	I	195;196;196;195;60;60	ENSP00000386306:V195I;ENSP00000364536:V196I;ENSP00000304748:V196I;ENSP00000386330:V195I;ENSP00000413212:V60I;ENSP00000393141:V60I	ENSP00000304748:V196I	V	-	1	0	SCN9A	166870561	1.000000	0.71417	0.674000	0.29902	0.060000	0.15804	7.818000	0.86416	0.936000	0.37367	-0.157000	0.13467	GTC	SCN9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333636.1		-	ENST00000409672.1	Missense_Mutation	SNP	2 : 167162315 - 167162315 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	460	45
SDK1	221935	broad.mit.edu	37	7	4185418	4185418	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr7:4185418C>T	ENST00000389531.3	+	29	4293	c.4293C>T	c.(4291-4293)ggC>ggT	p.G1431G	SDK1_ENST00000404826.2_Silent_p.G1431G			Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1431	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGAGGTCGGCGCCACAGTGA	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	57	59			NA	NA	7		NA											NA				4185418		2203	4299	6502	SO:0001819	synonymous_variant			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555	221935	221935		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	19307	protein-coding gene	gene with protein product		607216	sidekick homolog 1 (chicken), sidekick homolog 1, cell adhesion molecule (chicken)		NA	12230981, 17307840, 15213259	Standard	NM_152744	NM_001079653	NA	Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000389531.3:c.4293C>T	7.37:g.4185418C>T		NA	Q8TEN9|Q8TEP5|Q96N44	37																																																																																				SDK1-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000323705.2		+	ENST00000389531.3	Silent	SNP	7 : 4185418 - 4185418 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	480	30
SMAD4	4089	broad.mit.edu	37	18	48575132	48575132	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr18:48575132T>A	ENST00000588745.1	+	2	326	c.326T>A	c.(325-327)cTa>cAa	p.L109Q	SMAD4_ENST00000452201.2_Missense_Mutation_p.L109Q|SMAD4_ENST00000342988.3_Missense_Mutation_p.L109Q|SMAD4_ENST00000398417.2_Missense_Mutation_p.L109Q|RP11-729L2.2_ENST00000590722.2_3'UTR			Q13485	SMAD4_HUMAN	SMAD family member 4	109	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AAAAATGAACTAAAACATGTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				40	Whole gene deletion(36)|Unknown(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)											165	150	155			NA	NA	18		NA											NA				48575132		2203	4300	6503	SO:0001583	missense			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646	4089	4089		SMADs	6770	protein-coding gene	gene with protein product		600993	MAD, mothers against decapentaplegic homolog 4 (Drosophila), SMAD, mothers against DPP homolog 4 (Drosophila)	MADH4	NA	8553070, 8774881	Standard	NM_005359	NM_005359	NA	Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000588745.1:c.326T>A	18.37:g.48575132T>A	ENSP00000464901:p.Leu109Gln	NA	A8K405	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799226	0.90538	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	D;D;D	0.82803	-1.65;-1.65;-1.65	5.48	5.48	0.80851	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.64402	D	0.000001	D	0.92906	0.7743	M	0.92833	3.35	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94459	0.7674	10	0.87932	D	0	.	14.5339	0.67947	0.0:0.0:0.0:1.0	.	109	Q13485	SMAD4_HUMAN	Q	109	ENSP00000409551:L109Q;ENSP00000341551:L109Q;ENSP00000381452:L109Q	ENSP00000341551:L109Q	L	+	2	0	SMAD4	46829130	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.014000	0.88676	2.053000	0.61076	0.477000	0.44152	CTA	SMAD4-004	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449729.1		+	ENST00000588745.1	Missense_Mutation	SNP	18 : 48575132 - 48575132 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	491	41
SPACA3	124912	broad.mit.edu	37	17	31322436	31322436	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:31322436C>T	ENST00000580599.1	+	0	246				SPACA3_ENST00000269053.3_Missense_Mutation_p.S15L|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Intron			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	NA					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			GGGGTGCACTCAAGCCCTGTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	73	72			NA	NA	17		NA											NA				31322436		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF216311, AF099029	CCDS11275.1	17q12	2014-07-23			ENSG00000141316	ENSG00000141316	124912	124912			16260	protein-coding gene	gene with protein product	cancer/testis antigen 54, sperm lyzozyme-like acrosomal protein 1	612749			NA	12606493	Standard	NM_173847	NM_173847	NA	Approved	ALLP17, SLLP1, LYC3, LYZL3, CT54	uc002hhs.1	Q8IXA5	OTTHUMG00000132886	ENST00000580599.1:c.-164C>T	17.37:g.31322436C>T		NA	Q7Z4Y5	37		.	.	.	.	.	.	.	.	.	.	c	12.96	2.094702	0.36952	.	.	ENSG00000141316	ENST00000269053;ENST00000394637	T	0.70282	-0.47	3.91	2.9	0.33743	.	3.623610	0.01194	N	0.007405	T	0.60340	0.2261	N	0.19112	0.55	0.09310	N	1	P	0.37061	0.58	B	0.34536	0.185	T	0.50440	-0.8828	10	0.72032	D	0.01	-4.9368	9.1863	0.37172	0.2182:0.7818:0.0:0.0	.	15	Q8IXA5	SACA3_HUMAN	L	15;16	ENSP00000269053:S15L	ENSP00000269053:S15L	S	+	2	0	SPACA3	28346549	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	1.526000	0.35964	-1.019000	0.03358	-0.640000	0.03970	TCA	SPACA3-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000447512.1		+	ENST00000580599.1	5'UTR	SNP	17 : 31322436 - 31322436 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	422	26
SYNE1	23345	broad.mit.edu	37	6	152763321	152763321	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr6:152763321C>T	ENST00000367255.5	-	31	4498	c.3897G>A	c.(3895-3897)gcG>gcA	p.A1299A	SYNE1_ENST00000367253.4_Silent_p.A1299A|SYNE1_ENST00000448038.1_Silent_p.A1306A|SYNE1_ENST00000413186.2_Silent_p.A1299A|SYNE1_ENST00000341594.5_Silent_p.A1365A|SYNE1_ENST00000423061.1_Silent_p.A1306A|SYNE1_ENST00000367248.3_Silent_p.A1289A|SYNE1_ENST00000265368.4_Silent_p.A1299A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1299					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.A1299A(2)|p.A1306A(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCCTGCTGCGCCTGCGCGA	0.567		NA								HNSCC(10;0.0054)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - coding silent(3)	lung(3)											76	68	71			NA	NA	6		NA											NA				152763321		2203	4300	6503	SO:0001819	synonymous_variant			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3897G>A	6.37:g.152763321C>T		NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2																																																																																			SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Silent	SNP	6 : 152763321 - 152763321 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	435	30
TENM3	55714	broad.mit.edu	37	4	183713474	183713474	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr4:183713474C>T	ENST00000511685.1	+	26	5772	c.5649C>T	c.(5647-5649)taC>taT	p.Y1883Y	TENM3_ENST00000406950.2_Silent_p.Y1883Y					teneurin transmembrane protein 3	NA											NA						TCTTCGAATACGATATGTGGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	96	95			NA	NA	4		NA											NA				183713474		2052	4181	6233	SO:0001819	synonymous_variant			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336	55714	55714			29944	protein-coding gene	gene with protein product		610083	odz, odd Oz/ten-m homolog 3 (Drosophila)	ODZ3	NA	10331952, 10625539	Standard		NM_001080477	NA	Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5649C>T	4.37:g.183713474C>T		NA		37	CCDS47165.1																																																																																			TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361734.1		+	ENST00000511685.1	Silent	SNP	4 : 183713474 - 183713474 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	481	33
TNC	3371	broad.mit.edu	37	9	117849313	117849313	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr9:117849313T>C	ENST00000341037.4	-	2	825	c.697A>G	c.(697-699)Aat>Gat	p.N233D	TNC_ENST00000346706.3_Missense_Mutation_p.N233D|TNC_ENST00000542877.1_Missense_Mutation_p.N233D|TNC_ENST00000345230.3_Missense_Mutation_p.N233D|TNC_ENST00000350763.4_Missense_Mutation_p.N233D|TNC_ENST00000537320.1_Missense_Mutation_p.N233D|TNC_ENST00000340094.3_Missense_Mutation_p.N233D|TNC_ENST00000535648.1_Missense_Mutation_p.N233D|TNC_ENST00000423613.2_Missense_Mutation_p.N233D			P24821	TENA_HUMAN	tenascin C	233	EGF-like 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGACTCCATTTACGCACTTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													93	76	82			NA	NA	9		NA											NA				117849313		2203	4300	6503	SO:0001583	missense				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982	3371	3371		Fibrinogen C domain containing, Fibronectin type III domain containing	5318	protein-coding gene	gene with protein product	hexabrachion (tenascin)	187380	hexabrachion (tenascin C, cytotactin), deafness, autosomal dominant 56	HXB, DFNA56	NA	1704365, 1707164, 23936043	Standard	NM_002160	NM_002160	NA	Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000341037.4:c.697A>G	9.37:g.117849313T>C	ENSP00000339553:p.Asn233Asp	NA	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	37		.	.	.	.	.	.	.	.	.	.	T	0.005	-2.143039	0.00332	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.01279	5.06;5.06;5.06;5.06;5.06;5.06;5.06;5.06;5.06	5.43	-5.81	0.02340	EGF, extracellular (1);Epidermal growth factor-like (1);	0.721338	0.14577	N	0.311092	T	0.00524	0.0017	N	0.04090	-0.28	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.15484	0.013;0.004	T	0.43605	-0.9381	10	0.02654	T	1	.	2.8079	0.05432	0.102:0.3463:0.2081:0.3436	.	233;233	E9PC84;P24821	.;TENA_HUMAN	D	233	ENSP00000344400:N233D;ENSP00000438152:N233D;ENSP00000344555:N233D;ENSP00000345861:N233D;ENSP00000265131:N233D;ENSP00000339553:N233D;ENSP00000411406:N233D;ENSP00000443478:N233D;ENSP00000442242:N233D	ENSP00000344400:N233D	N	-	1	0	TNC	116889134	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.053000	0.11846	-0.783000	0.04534	-0.456000	0.05471	AAT	TNC-011	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397659.2		-	ENST00000341037.4	Missense_Mutation	SNP	9 : 117849313 - 117849313 C PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	419	27
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656		TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		CCGGTTCATGCCGCCCATGCA	0.582		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	GRCh37	CM010464|CM900209	TP53	M	rs121912656						151	113	126			NA	NA	17		NA											NA				7577547		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.734G>T	17.37:g.7577547C>A	ENSP00000391127:p.Gly245Val	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563102	0.86335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245V;ENSP00000352610:G245V;ENSP00000269305:G245V;ENSP00000398846:G245V;ENSP00000391127:G245V;ENSP00000391478:G245V;ENSP00000425104:G113V;ENSP00000423862:G152V	ENSP00000269305:G245V	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577547 - 7577547 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	385	41
TRIM7	81786	broad.mit.edu	37	5	180622634	180622634	+	Silent	SNP	G	G	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:180622634G>T	ENST00000393315.1	-	7	1141	c.444C>A	c.(442-444)atC>atA	p.I148I	TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000393319.3_Silent_p.I174I|TRIM7_ENST00000274773.7_Silent_p.I356I|TRIM7_ENST00000422067.2_Silent_p.I148I|TRIM7_ENST00000361809.3_Silent_p.I148I	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	356						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	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)		CCAGAGAGAGGATGAGGCGCG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(128;2258 2308 35507 48647)							NA				0													46	53	51			NA	NA	5		NA											NA				180622634		2181	4225	6406	SO:0001819	synonymous_variant			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054	81786	81786		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	16278	protein-coding gene	gene with protein product	glycogenin-interacting protein, tripartite motif protein TRIM7	609315	tripartite motif-containing 7		NA	11331580	Standard	NM_203296	NM_203294	NA	Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000393315.1:c.444C>A	5.37:g.180622634G>T		NA	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	37	CCDS4463.1																																																																																			TRIM7-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368529.3		-	ENST00000393315.1	Silent	SNP	5 : 180622634 - 180622634 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	427	13
USP15	9958	broad.mit.edu	37	12	62715327	62715327	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr12:62715327C>T	ENST00000280377.5	+	5	616	c.558C>T	c.(556-558)aaC>aaT	p.N186N	USP15_ENST00000393654.3_Silent_p.N186N|USP15_ENST00000353364.3_Silent_p.N186N|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Silent_p.N186N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	186					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACATGAGTAACACATTTGAAC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(181;615 2041 39364 49691 50001)							NA				0													79	80	79			NA	NA	12		NA											NA				62715327		2203	4300	6503	SO:0001819	synonymous_variant			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08				9958	9958		Ubiquitin-specific peptidases	12613	protein-coding gene	gene with protein product		604731	ubiquitin specific protease 15		NA	12838346	Standard	NM_006313	NM_001252078	NA	Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.558C>T	12.37:g.62715327C>T		NA	Q9HCA6|Q9UNP0|Q9Y5B5	37	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	8.794	0.931159	0.18131	.	.	ENSG00000135655	ENST00000549237	.	.	.	5.42	0.448	0.16614	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49624	-0.8920	4	.	.	.	-16.2298	9.7353	0.40384	0.0:0.3589:0.0:0.6411	.	.	.	.	I	182	.	.	T	+	2	0	USP15	61001594	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	1.192000	0.32150	-0.160000	0.11002	-0.295000	0.09555	ACA	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000407831.2		+	ENST00000280377.5	Silent	SNP	12 : 62715327 - 62715327 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	308	31
WWC1	23286	broad.mit.edu	37	5	167881063	167881063	+	Silent	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr5:167881063C>T	ENST00000265293.4	+	18	3118	c.2616C>T	c.(2614-2616)acC>acT	p.T872T	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.T872T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	872	Glu-rich.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		aTGTTTTCACCGAGAAAGCCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	134	139			NA	NA	5		NA											NA				167881063		2203	4300	6503	SO:0001819	synonymous_variant			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645	23286	23286		WW, C2 and coiled-coil domain containing	29435	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 168	610533	WW, C2 and coiled-coil domain containing 1		NA	10048485, 12559952	Standard	NM_015238	NM_001161661	NA	Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2616C>T	5.37:g.167881063C>T		NA	O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	37	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	2.764	-0.257209	0.05791	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	4.64	-9.28	0.00656	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7003	0.17879	0.3508:0.4177:0.0:0.2315	.	.	.	.	X	834;649	.	.	R	+	1	2	WWC1	167813641	0.001000	0.12720	0.000000	0.03702	0.027000	0.11550	-1.067000	0.03451	-2.469000	0.00531	-3.152000	0.00058	CGA	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252791.2		+	ENST00000265293.4	Silent	SNP	5 : 167881063 - 167881063 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	935	39
XYLT1	64131	broad.mit.edu	37	16	17211716	17211716	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr16:17211716C>T	ENST00000261381.6	-	11	2428	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	782					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCCAAATGACGGTCACGGTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	155	166			NA	NA	16		NA											NA				17211716		2197	4300	6497	SO:0001583	missense			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	64131	64131	2.4.2.26	Glucosaminyl (N-acetyl) transferase and xylosyltransferase family	15516	protein-coding gene	gene with protein product	protein xylosyltransferase 1	608124			NA	11099377	Standard	NM_022166	NM_022166	NA	Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2344G>A	16.37:g.17211716C>T	ENSP00000261381:p.Val782Ile	NA	Q9H1B6	37	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690680	0.48097	.	.	ENSG00000103489	ENST00000261381	T	0.48201	0.82	4.98	1.94	0.25998	.	0.110450	0.64402	N	0.000009	T	0.28732	0.0712	N	0.21373	0.66	0.58432	D	0.999995	P	0.51933	0.949	B	0.41374	0.355	T	0.02797	-1.1109	10	0.21014	T	0.42	-34.163	9.245	0.37520	0.0:0.7638:0.0:0.2362	.	782	Q86Y38	XYLT1_HUMAN	I	782	ENSP00000261381:V782I	ENSP00000261381:V782I	V	-	1	0	XYLT1	17119217	0.996000	0.38824	0.294000	0.24946	0.888000	0.51559	3.356000	0.52269	0.222000	0.20900	0.462000	0.41574	GTC	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252241.2		-	ENST00000261381.6	Missense_Mutation	SNP	16 : 17211716 - 17211716 T PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	465	41
YJEFN3	374887	broad.mit.edu	37	19	19640211	19640211	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:19640211G>A	ENST00000514277.4	+	2	136	c.98G>A	c.(97-99)aGa>aAa	p.R33K	YJEFN3_ENST00000608404.1_Intron|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000512771.3_Missense_Mutation_p.R155K|YJEFN3_ENST00000436027.5_Intron|CTC-260F20.3_ENST00000555938.1_Intron	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	NA										NS(1)|breast(1)|lung(3)	5						GACATGGGAAGAGCGGAGCTT	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	52	51			NA	NA	19		NA											NA				19640211		1975	4146	6121	SO:0001583	missense				CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067	374887	374887			24785	protein-coding gene	gene with protein product					NA	17533573	Standard	NM_198537	NM_198537	NA	Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.98G>A	19.37:g.19640211G>A	ENSP00000426964:p.Arg33Lys	NA	A6XGK9|Q4G1C0	37	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534897	0.27475	.	.	ENSG00000250067	ENST00000397179;ENST00000514277	T	0.49139	0.79	1.49	1.49	0.22878	.	1.947900	0.03773	U	0.260052	T	0.21062	0.0507	N	0.08118	0	0.29350	N	0.865397	B;B	0.32425	0.371;0.219	B;B	0.19148	0.024;0.014	T	0.27905	-1.0060	10	0.02654	T	1	.	6.4775	0.22045	0.0:0.0:1.0:0.0	.	155;33	B4DF76;A6XGL0	.;YJEN3_HUMAN	K	33	ENSP00000426964:R33K	ENSP00000380364:R33K	R	+	2	0	YJEFN3	19501211	0.024000	0.19004	0.010000	0.14722	0.016000	0.09150	0.155000	0.16362	1.155000	0.42497	0.555000	0.69702	AGA	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368157.5		+	ENST00000514277.4	Missense_Mutation	SNP	19 : 19640211 - 19640211 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	217	20
ZNF486	90649	broad.mit.edu	37	19	20308264	20308264	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7891-01A-11D-2201-08	TCGA-IB-7891-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	232bda70-597f-4d12-b538-ae907bda8ba5	cceed9ba-fa58-465a-913a-928876675c22	g.chr19:20308264T>A	ENST00000335117.8	+	4	802	c.745T>A	c.(745-747)Tac>Aac	p.Y249N	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGTCTTTAAGTACTTCTCTAG	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	39	38			NA	NA	19		NA											NA				20308264		2144	4265	6409	SO:0001583	missense			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229	90649	90649		Zinc fingers, C2H2-type, -	20807	protein-coding gene	gene with protein product			KRAB domain only 2	KRBO2	NA		Standard	NM_052852	NM_052852	NA	Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.745T>A	19.37:g.20308264T>A	ENSP00000335042:p.Tyr249Asn	NA	Q0VG00	37	CCDS46029.1	.	.	.	.	.	.	.	.	.	.	a	6.041	0.376005	0.11466	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.47177	0.85	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33030	0.0849	L	0.28556	0.865	0.09310	N	1	B	0.29432	0.244	B	0.38755	0.281	T	0.35822	-0.9773	9	0.30854	T	0.27	.	2.0183	0.03503	0.4435:0.2683:0.0:0.2882	.	249	Q96H40	ZN486_HUMAN	N	288;249	ENSP00000335042:Y249N	ENSP00000335042:Y249N	Y	+	1	0	ZNF486	20169264	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.996000	0.01471	-1.290000	0.02372	-1.322000	0.01289	TAC	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447843.2		+	ENST00000335117.8	Missense_Mutation	SNP	19 : 20308264 - 20308264 A PAAD-TCGA-IB-7891-Tumor-SM-2RBKE	329	24
