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
ADAD2	161931	broad.mit.edu	37	16	84228111	84228111	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:84228111C>T	ENST00000268624.3	+	3	791	c.698C>T	c.(697-699)gCg>gTg	p.A233V	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.A161V	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	161					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCGGGCACTGCGAATAGCAAG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	36	37			NA	NA	16		NA											NA				84228111		2200	4300	6500	SO:0001583	missense			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955	161931	161931			30714	protein-coding gene	gene with protein product					NA		Standard	NM_139174	NM_139174	NA	Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000268624.3:c.698C>T	16.37:g.84228111C>T	ENSP00000268624:p.Ala233Val	NA	B2RCL6|Q8NA94	37	CCDS10944.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922921	0.33908	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.77098	-1.07;-1.07	4.15	0.639	0.17747	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.434885	0.19591	N	0.110615	T	0.72558	0.3475	L	0.29908	0.895	0.09310	N	1	D;P	0.61697	0.99;0.951	P;B	0.51945	0.685;0.32	T	0.66160	-0.5993	10	0.56958	D	0.05	-10.474	11.4451	0.50118	0.0:0.4186:0.5814:0.0	.	161;233	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	V	161;233	ENSP00000325153:A161V;ENSP00000268624:A233V	ENSP00000268624:A233V	A	+	2	0	ADAD2	82785612	0.040000	0.19996	0.001000	0.08648	0.003000	0.03518	0.694000	0.25512	0.449000	0.26747	0.511000	0.50034	GCG	ADAD2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269078.1		+	ENST00000268624.3	Missense_Mutation	SNP	16 : 84228111 - 84228111 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	120	11
ADCYAP1	116	broad.mit.edu	37	18	909532	909532	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr18:909532C>T	ENST00000579794.1	+	4	705	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	ADCYAP1_ENST00000450565.3_Missense_Mutation_p.R143C	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	143					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CAGCTACAGCCGCTACCGGAA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	100	94			NA	NA	18		NA											NA				909532		2203	4300	6503	SO:0001583	missense			S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433	116	116		Endogenous ligands	241	protein-coding gene	gene with protein product	prepro-PACAP	102980			NA	1730060	Standard	NM_001117	NM_001099733	NA	Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.427C>T	18.37:g.909532C>T	ENSP00000462647:p.Arg143Cys	NA	B2R7N4|Q52LQ0	37	CCDS11825.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334375	0.95758	.	.	ENSG00000141433	ENST00000450565;ENST00000400219;ENST00000269200	.	.	.	5.17	5.17	0.71159	Glucagon/GIP/secretin/VIP (4);	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88814	0.3294	9	0.87932	D	0	.	18.6597	0.91468	0.0:1.0:0.0:0.0	.	143	P18509	PACA_HUMAN	C	282;143;143	.	ENSP00000269200:R143C	R	+	1	0	ADCYAP1	899532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.011000	0.70760	2.391000	0.81399	0.650000	0.86243	CGC	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000440765.3		+	ENST00000579794.1	Missense_Mutation	SNP	18 : 909532 - 909532 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	715	24
APOB	338	broad.mit.edu	37	2	21233909	21233909	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:21233909T>C	ENST00000233242.1	-	26	5958	c.5831A>G	c.(5830-5832)cAt>cGt	p.H1944R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1944					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTGTAATCATGAGAGAAAGT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													177	166	170			NA	NA	2		NA											NA				21233909		2203	4300	6503	SO:0001583	missense			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674	338	338		Apolipoproteins	603	protein-coding gene	gene with protein product		107730	apolipoprotein B (including Ag(x) antigen)		NA		Standard		NM_000384	NA	Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5831A>G	2.37:g.21233909T>C	ENSP00000233242:p.His1944Arg	NA	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.130700	0.37630	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.03094	4.05	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000016	T	0.18130	0.0435	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.00239	-1.1888	10	0.62326	D	0.03	.	15.5233	0.75881	0.0:0.0:0.0:1.0	.	1944	P04114	APOB_HUMAN	R	1944	ENSP00000233242:H1944R	ENSP00000233242:H1944R	H	-	2	0	APOB	21087414	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.315000	0.51951	2.065000	0.61736	0.454000	0.30748	CAT	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207571.1		-	ENST00000233242.1	Missense_Mutation	SNP	2 : 21233909 - 21233909 C PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	768	32
ATP2B3	492	broad.mit.edu	37	X	152807149	152807149	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:152807149C>T	ENST00000370186.1	+	4	755	c.429C>T	c.(427-429)ggC>ggT	p.G143G	ATP2B3_ENST00000263519.4_Silent_p.G143G|ATP2B3_ENST00000370181.2_Silent_p.G143G|ATP2B3_ENST00000349466.2_Silent_p.G143G|ATP2B3_ENST00000393842.1_Silent_p.G143G|ATP2B3_ENST00000359149.3_Silent_p.G143G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	143					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCGGGAGGCGCAGAAGATG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	67	73			NA	NA	X		NA											NA				152807149		2203	4300	6503	SO:0001819	synonymous_variant			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	492	492	3.6.3.8	ATPases / P-type	816	protein-coding gene	gene with protein product	plasma membrane calcium-transporting ATPase 3, cilia and flagella associated protein 39	300014	spinocerebellar ataxia, X-linked 1, cerebellar ataxia 2 (X-linked)	SCAX1, CLA2	NA	8187550, 22912398	Standard	NM_021949	NM_021949	NA	Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000370186.1:c.429C>T	X.37:g.152807149C>T		NA	B7WNR8|B7WNY5|Q12995|Q16858	37																																																																																				ATP2B3-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000060956.1		+	ENST00000370186.1	Silent	SNP	X : 152807149 - 152807149 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	372	21
BMP8A	353500	broad.mit.edu	37	1	39988771	39988771	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:39988771C>T	ENST00000331593.5	+	6	1387	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	347					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCACCAACCACGCCATCCTGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													175	148	157			NA	NA	1		NA											NA				39988771		2203	4300	6503	SO:0001819	synonymous_variant			AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682	353500	353500		Bone morphogenetic proteins, Endogenous ligands	21650	protein-coding gene	gene with protein product					NA		Standard	NM_181809	NM_181809	NA	Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.1041C>T	1.37:g.39988771C>T		NA	Q5T3A5	37	CCDS437.1																																																																																			BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000023079.1		+	ENST00000331593.5	Silent	SNP	1 : 39988771 - 39988771 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	775	25
C16orf89	146556	broad.mit.edu	37	16	5112524	5112524	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr16:5112524G>A	ENST00000474471.3	-	2	322	c.260C>T	c.(259-261)cCg>cTg	p.P87L	C16orf89_ENST00000350219.4_Missense_Mutation_p.P125L|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.P125L|C16orf89_ENST00000315997.5_Missense_Mutation_p.P87L|C16orf89_ENST00000472572.3_Missense_Mutation_p.P87L			Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	87						extracellular region		p.P125L(2)|p.P87L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CAGGCTCAGCGGCTGCAGCAG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	lung(3)											53	57	55			NA	NA	16		NA											NA				5112524		1920	4138	6058	SO:0001583	missense				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446	146556	146556			28687	protein-coding gene	gene with protein product					NA	12975309, 20578903	Standard	NM_152459	NM_001098514	NA	Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000474471.3:c.260C>T	16.37:g.5112524G>A	ENSP00000417158:p.Pro87Leu	NA	B4DUM5|Q8N2I3|Q8N4T1	37		.	.	.	.	.	.	.	.	.	.	G	6.069	0.381079	0.11466	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.98	0.777	0.18538	.	0.331114	0.28268	N	0.015977	T	0.22936	0.0554	L	0.56769	1.78	0.23879	N	0.996585	B;B	0.30211	0.179;0.273	B;B	0.25140	0.026;0.058	T	0.14615	-1.0466	10	0.49607	T	0.09	-14.0929	4.1243	0.10119	0.266:0.0:0.5735:0.1606	.	87;125	Q6UX73;G3V0F0	CP089_HUMAN;.	L	87;87;87;125;125;87	ENSP00000417158:P87L;ENSP00000420566:P87L;ENSP00000390402:P125L;ENSP00000283478:P125L;ENSP00000324672:P87L	ENSP00000324672:P87L	P	-	2	0	C16orf89	5052525	0.000000	0.05858	0.119000	0.21687	0.049000	0.14656	-0.083000	0.11286	-0.062000	0.13088	-1.263000	0.01449	CCG	C16orf89-002	NOVEL	non_canonical_TEC|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000354525.2		-	ENST00000474471.3	Missense_Mutation	SNP	16 : 5112524 - 5112524 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	526	23
C7	730	broad.mit.edu	37	5	40947725	40947725	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:40947725G>A	ENST00000313164.9	+	8	1119	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	254	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					NA		Ovarian(839;0.0112)				GCTGGTTGTTGAGAACACTGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	55	56			NA	NA	5		NA											NA				40947725		1851	4102	5953	SO:0001583	missense			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936	730	730		Complement system	1346	protein-coding gene	gene with protein product		217070			NA		Standard		NM_000587	NA	Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.760G>A	5.37:g.40947725G>A	ENSP00000322061:p.Glu254Lys	NA	Q6P3T5|Q92489	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	0.158	-1.083866	0.01888	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.81821	-1.54	5.9	4.05	0.47172	Membrane attack complex component/perforin (MACPF) domain (3);	0.235442	0.44483	D	0.000452	T	0.50480	0.1618	N	0.01464	-0.85	0.25030	N	0.991275	B	0.10296	0.003	B	0.15052	0.012	T	0.39272	-0.9622	10	0.02654	T	1	-10.741	10.8024	0.46495	0.1164:0.5032:0.3804:0.0	.	254	P10643	CO7_HUMAN	K	254	ENSP00000322061:E254K	ENSP00000322061:E254K	E	+	1	0	C7	40983482	1.000000	0.71417	0.982000	0.44146	0.213000	0.24496	1.445000	0.35079	1.452000	0.47756	-0.219000	0.12488	GAG	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317680.1		+	ENST00000313164.9	Missense_Mutation	SNP	5 : 40947725 - 40947725 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	143	6
CA8	767	broad.mit.edu	37	8	61139438	61139438	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:61139438C>G	ENST00000317995.4	-	5	834	c.570G>C	c.(568-570)caG>caC	p.Q190H	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	190					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TTACCTTATACTGAATATCTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	60	59			NA	NA	8		NA											NA				61139438		2203	4300	6503	SO:0001583	missense			L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538	767	767		Carbonic anhydrases	1382	protein-coding gene	gene with protein product		114815		CALS	NA	17219437	Standard		NM_004056	NA	Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.570G>C	8.37:g.61139438C>G	ENSP00000314407:p.Gln190His	NA	A8K0A5|B3KQZ7|Q32MY2	37	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740653	0.49045	.	.	ENSG00000178538	ENST00000317995	T	0.68331	-0.32	5.83	2.55	0.30701	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.171104	0.53938	D	0.000047	T	0.56746	0.2006	M	0.66297	2.02	0.48830	D	0.999712	P	0.37525	0.598	B	0.32022	0.139	T	0.54186	-0.8331	10	0.87932	D	0	.	5.3935	0.16257	0.1324:0.6131:0.0:0.2545	.	190	P35219	CAH8_HUMAN	H	190	ENSP00000314407:Q190H	ENSP00000314407:Q190H	Q	-	3	2	CA8	61301992	0.975000	0.34042	1.000000	0.80357	0.997000	0.91878	0.168000	0.16622	0.195000	0.20347	0.650000	0.86243	CAG	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383445.1		-	ENST00000317995.4	Missense_Mutation	SNP	8 : 61139438 - 61139438 G PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	269	12
CCDC108	255101	broad.mit.edu	37	2	219890812	219890812	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:219890812C>T	ENST00000341552.5	-	14	2364	c.2281G>A	c.(2281-2283)Gca>Aca	p.A761T	CCDC108_ENST00000453220.1_Missense_Mutation_p.A761T|CCDC108_ENST00000441968.1_Missense_Mutation_p.A761T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	761						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCCTCGTGCCCGCACCGTC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	72	75			NA	NA	2		NA											NA				219890812		2203	4300	6503	SO:0001583	missense			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378	255101	255101			25325	protein-coding gene	gene with protein product		614270			NA	12477932	Standard	NM_194302	NM_194302	NA	Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2281G>A	2.37:g.219890812C>T	ENSP00000340776:p.Ala761Thr	NA	A2BDD8|Q6ZSR8|Q8NDJ3	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	7.441	0.640609	0.14386	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05580	3.42;3.42;3.42	4.87	3.09	0.35607	.	0.461082	0.18270	N	0.146344	T	0.04363	0.0120	L	0.38838	1.175	0.09310	N	1	B	0.28512	0.214	B	0.24701	0.055	T	0.42275	-0.9461	10	0.15952	T	0.53	-1.4645	3.8598	0.08991	0.1251:0.5849:0.1362:0.1538	.	761	Q6ZU64	CC108_HUMAN	T	761	ENSP00000340776:A761T;ENSP00000413377:A761T;ENSP00000409117:A761T	ENSP00000340776:A761T	A	-	1	0	CCDC108	219599056	0.004000	0.15560	0.001000	0.08648	0.273000	0.26683	1.552000	0.36244	0.671000	0.31185	-0.224000	0.12420	GCA	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256598.4		-	ENST00000341552.5	Missense_Mutation	SNP	2 : 219890812 - 219890812 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	261	10
CR1	1378	broad.mit.edu	37	1	207669664	207669664	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:207669664G>A	ENST00000367049.4	+	1	52	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	CR1_ENST00000400960.2_Missense_Mutation_p.G18S|CR1_ENST00000367053.1_Missense_Mutation_p.G18S|CR1_ENST00000367052.1_Missense_Mutation_p.G18S|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Missense_Mutation_p.G18S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	18					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCGGCGCCCGGTCTCCCCTT	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	24	22			NA	NA	1		NA											NA				207669664		1836	4070	5906	SO:0001583	missense			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710	1378	1378		CD molecules, Blood group antigens, Complement system	2334	protein-coding gene	gene with protein product		120620	complement component (3b/4b) receptor 1, including Knops blood group system		NA	1708809	Standard	NM_000573	XM_005273064	NA	Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.52G>A	1.37:g.207669664G>A	ENSP00000356016:p.Gly18Ser	NA	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	4.819	0.152215	0.09185	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000534202;ENST00000367049	T;T;T;T;T;T	0.30448	1.55;1.68;1.55;1.55;1.71;1.53	3.35	-6.11	0.02131	.	.	.	.	.	T	0.10723	0.0262	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.34725	-0.9817	9	0.10902	T	0.67	.	6.0568	0.19816	0.0:0.1689:0.4:0.4311	.	18;18;18;18	Q5SR44;E9PQN4;P17927;E9PDY4	.;.;CR1_HUMAN;.	S	18	ENSP00000356019:G18S;ENSP00000356018:G18S;ENSP00000356020:G18S;ENSP00000383744:G18S;ENSP00000436139:G18S;ENSP00000356016:G18S	ENSP00000356016:G18S	G	+	1	0	CR1	205736287	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.223000	0.01214	-1.493000	0.01835	-0.203000	0.12734	GGT	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382527.1		+	ENST00000367049.4	Missense_Mutation	SNP	1 : 207669664 - 207669664 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	180	14
DDB1	1642	broad.mit.edu	37	11	61091514	61091514	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:61091514C>T	ENST00000301764.7	-	7	1255	c.858G>A	c.(856-858)gaG>gaA	p.E286E	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	286	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTTCCTCCTTCTCCAAAAGCA	0.517		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	195	199			NA	NA	11		NA											NA				61091514		2203	4299	6502	SO:0001819	synonymous_variant			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986	1642	1642			2717	protein-coding gene	gene with protein product		600045	damage-specific DNA binding protein 1 (127kD)		NA	8530102, 10574459	Standard	NM_001923	NM_001923	NA	Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.858G>A	11.37:g.61091514C>T		NA	A6NG77|B2R648|O15176|Q13289|Q58F96	37	CCDS31576.1																																																																																			DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398816.1		-	ENST00000301764.7	Silent	SNP	11 : 61091514 - 61091514 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	797	24
DDB1	1642	broad.mit.edu	37	11	61091563	61091563	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:61091563C>G	ENST00000301764.7	-	7	1206	c.809G>C	c.(808-810)aGa>aCa	p.R270T	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	270	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGCAGGTATCTTGAGCCATT	0.493		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	161	162			NA	NA	11		NA											NA				61091563		2203	4299	6502	SO:0001583	missense			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986	1642	1642			2717	protein-coding gene	gene with protein product		600045	damage-specific DNA binding protein 1 (127kD)		NA	8530102, 10574459	Standard	NM_001923	NM_001923	NA	Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.809G>C	11.37:g.61091563C>G	ENSP00000301764:p.Arg270Thr	NA	A6NG77|B2R648|O15176|Q13289|Q58F96	37	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176730	0.94846	.	.	ENSG00000167986	ENST00000301764;ENST00000535174;ENST00000541513	T;T;T	0.44083	0.93;0.93;0.93	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.70868	0.3273	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.972;0.958;0.998	T	0.71234	-0.4653	10	0.40728	T	0.16	-16.3903	19.8965	0.96963	0.0:1.0:0.0:0.0	.	270;270;270	F5GY55;B7Z2A1;Q16531	.;.;DDB1_HUMAN	T	270;53;85	ENSP00000301764:R270T;ENSP00000446044:R53T;ENSP00000442660:R85T	ENSP00000301764:R270T	R	-	2	0	DDB1	60848139	1.000000	0.71417	0.613000	0.29037	0.952000	0.60782	7.818000	0.86416	2.717000	0.92951	0.655000	0.94253	AGA	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398816.1		-	ENST00000301764.7	Missense_Mutation	SNP	11 : 61091563 - 61091563 G PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	757	19
DKFZP761J1410	0	broad.mit.edu	37	19	11475041	11475041	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:11475041G>A	ENST00000251473.5	+	10	1394	c.1018G>A	c.(1018-1020)Gcc>Acc	p.A340T	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R320H	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2				NA											NA						AACTGCGCCCGCCGTGGCCAC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,THR/ALA	0,4404		0,0,2202	22	23	22		959,1018	1.9	1	19		22	1,8591		0,1,4295	no	missense,missense	LPPR2	NM_001170635.1,NM_022737.2	29,58	0,1,6497	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign	320/428,340/344	11475041	1,12995	2202	4296	6498	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000251473.5:c.1018G>A	19.37:g.11475041G>A	ENSP00000251473:p.Ala340Thr	NA		37	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899550	0.72754	0.0	1.16E-4	ENSG00000105520	ENST00000251473	T	0.32988	1.43	5.35	1.89	0.25635	.	1.228950	0.05412	N	0.542647	T	0.13970	0.0338	N	0.08118	0	0.29378	N	0.863555	P	0.35011	0.48	B	0.23275	0.045	T	0.20974	-1.0259	10	0.33141	T	0.24	-9.6269	6.2709	0.20953	0.0868:0.0:0.5892:0.324	.	340	Q96GM1	LPPR2_HUMAN	T	340	ENSP00000251473:A340T	ENSP00000251473:A340T	A	+	1	0	AC024575.1	11336041	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.037000	0.30241	0.207000	0.20607	0.467000	0.42956	GCC	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458779.1		+	ENST00000251473.5	Missense_Mutation	SNP	19 : 11475041 - 11475041 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	176	8
DLGAP3	58512	broad.mit.edu	37	1	35370343	35370343	+	Silent	SNP	C	C	T	rs142633506		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:35370343C>T	ENST00000373347.1	-	3	910	c.642G>A	c.(640-642)ccG>ccA	p.P214P	DLGAP3_ENST00000235180.4_Silent_p.P214P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	214					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTCCAGAGCCCGGGCCGGGGT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0										0,4406		0,0,2203	39	40	40		642	-5.5	0.2	1	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DLGAP3	NM_001080418.1		0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077		214/980	35370343	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544	58512	58512			30368	protein-coding gene	gene with protein product		611413			NA	8619474, 9110174	Standard	NM_021234	NM_001080418	NA	Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.642G>A	1.37:g.35370343C>T		NA	Q5TDD5|Q9H3X7	37	CCDS30670.1																																																																																			DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011554.1		-	ENST00000373347.1	Silent	SNP	1 : 35370343 - 35370343 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	374	27
DYRK2	8445	broad.mit.edu	37	12	68051338	68051338	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:68051338C>T	ENST00000344096.3	+	3	1064	c.651C>T	c.(649-651)caC>caT	p.H217H	DYRK2_ENST00000393555.3_Silent_p.H144H	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	217					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CCCACGATCACGTGGCTTACA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	57	62			NA	NA	12		NA											NA				68051338		2203	4300	6503	SO:0001819	synonymous_variant			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334	8445	8445			3093	protein-coding gene	gene with protein product		603496			NA	9748265	Standard		NM_003583	NA	Approved		uc001str.4	Q92630		ENST00000344096.3:c.651C>T	12.37:g.68051338C>T		NA	B2R9V9|Q9BRB5	37	CCDS8978.1																																																																																			DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402218.1		+	ENST00000344096.3	Silent	SNP	12 : 68051338 - 68051338 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	281	17
FAM122C	159091	broad.mit.edu	37	X	133948871	133948871	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:133948871C>T	ENST00000370785.3	+	2	586	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FAM122C_ENST00000414371.2_Missense_Mutation_p.R97C|FAM122C_ENST00000370784.4_Missense_Mutation_p.R61C|FAM122C_ENST00000445123.1_5'UTR	NM_138819.3	NP_620174.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	61								p.R61C(2)		endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TAGGAATCGACGCTCTCTGGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	endometrium(2)						C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3835		0,0,1632,571	113	110	111		181,289,181,181,181,181	4.5	0	X		111	1,6727		0,1,2427,1872	no	missense,missense,missense,missense,missense,missense	FAM122C	NM_001170779.1,NM_001170780.1,NM_001170782.1,NM_001170783.1,NM_001170784.1,NM_138819.3	180,180,180,180,180,180	0,1,4059,2443	TT,TC,CC,C	NA	0.0149,0.0,0.0095	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	61/196,97/116,61/97,61/80,61/80,61/153	133948871	1,10562	2203	4300	6503	SO:0001583	missense			BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500	159091	159091			25202	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_138819	NM_138819	NA	Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370785.3:c.181C>T	X.37:g.133948871C>T	ENSP00000359821:p.Arg61Cys	NA	Q8WVK9	37	CCDS14644.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523793	0.27299	0.0	1.49E-4	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	T;T;T	0.55588	0.51;0.51;0.51	5.37	4.5	0.54988	.	0.409996	0.29480	N	0.012036	T	0.26340	0.0643	N	0.08118	0	0.22571	N	0.998978	B;P;P;P	0.38048	0.386;0.616;0.616;0.616	B;B;B;B	0.19666	0.016;0.016;0.016;0.026	T	0.13899	-1.0492	10	0.66056	D	0.02	-9.8706	10.5203	0.44914	0.1931:0.8069:0.0:0.0	.	97;61;61;61	F5H036;Q6P4D5;Q6P4D5-2;Q6P187	.;F222C_HUMAN;.;.	C	97;61;61	ENSP00000402477:R97C;ENSP00000359820:R61C;ENSP00000359821:R61C	ENSP00000359820:R61C	R	+	1	0	FAM122C	133776537	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.685000	0.25378	1.031000	0.39867	0.579000	0.79373	CGC	FAM122C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058955.1		+	ENST00000370785.3	Missense_Mutation	SNP	X : 133948871 - 133948871 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	632	12
FN1	2335	broad.mit.edu	37	2	216271856	216271856	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:216271856G>A	ENST00000354785.4	-	18	3076	c.2707C>T	c.(2707-2709)Cgc>Tgc	p.R903C	FN1_ENST00000356005.4_Missense_Mutation_p.R903C|FN1_ENST00000359671.1_Missense_Mutation_p.R903C|FN1_ENST00000323926.6_Missense_Mutation_p.R903C|FN1_ENST00000346544.3_Missense_Mutation_p.R903C|FN1_ENST00000432072.2_Missense_Mutation_p.R903C|FN1_ENST00000357009.2_Missense_Mutation_p.R903C|FN1_ENST00000421182.1_Missense_Mutation_p.R903C|FN1_ENST00000345488.5_Missense_Mutation_p.R903C|FN1_ENST00000357867.4_Missense_Mutation_p.R903C|FN1_ENST00000446046.1_Missense_Mutation_p.R903C|FN1_ENST00000443816.1_Missense_Mutation_p.R903C|FN1_ENST00000336916.4_Missense_Mutation_p.R903C			P02751	FINC_HUMAN	fibronectin 1	903					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTACCTGAGCGTGGGGTGCCA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	111	112			NA	NA	2		NA											NA				216271856		2203	4300	6503	SO:0001583	missense				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414	2335	2335		Fibronectin type III domain containing, Endogenous ligands	3778	protein-coding gene	gene with protein product	migration-stimulating factor, cold-insoluble globulin	135600			NA	2992939, 3003095	Standard	NM_212476	NM_054034	NA	Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000354785.4:c.2707C>T	2.37:g.216271856G>A	ENSP00000346839:p.Arg903Cys	NA	O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	37	CCDS42814.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676889	0.29783	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.49139	0.79;2.17;2.35;0.88;2.42;2.06;2.39;2.05;2.35;2.09;1.56;0.87;1.46	5.47	4.59	0.56863	.	0.100271	0.45361	D	0.000372	T	0.61009	0.2313	L	0.47716	1.5	0.09310	N	0.999992	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0;0.987;1.0;1.0;0.976;0.996	P;P;D;D;P;P;D;D;P;P	0.70487	0.888;0.886;0.962;0.969;0.899;0.781;0.915;0.969;0.814;0.814	T	0.56920	-0.7899	10	0.87932	D	0	.	14.258	0.66065	0.0:0.0:0.7303:0.2697	.	903;903;903;903;903;903;903;903;903;903	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	C	903	ENSP00000394423:R903C;ENSP00000323534:R903C;ENSP00000338200:R903C;ENSP00000350534:R903C;ENSP00000346839:R903C;ENSP00000352696:R903C;ENSP00000265312:R903C;ENSP00000273049:R903C;ENSP00000349509:R903C;ENSP00000410422:R903C;ENSP00000415018:R903C;ENSP00000399538:R903C;ENSP00000348285:R903C	ENSP00000265313:R903C	R	-	1	0	FN1	215980101	0.331000	0.24713	0.660000	0.29694	0.056000	0.15407	2.273000	0.43381	1.272000	0.44329	0.655000	0.94253	CGC	FN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256667.2		-	ENST00000354785.4	Missense_Mutation	SNP	2 : 216271856 - 216271856 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	518	22
GAREM	64762	broad.mit.edu	37	18	29867104	29867104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr18:29867104G>A	ENST00000399218.4	-	4	1511	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	GAREM_ENST00000269209.6_Nonsense_Mutation_p.R486*	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1	NA											NA						CATTTGGATCGGACAGAACCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	134	138			NA	NA	18		NA											NA				29867104		2203	4300	6503	SO:0001587	stop_gained			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441	64762	64762			26136	protein-coding gene	gene with protein product	Grb2-associated and regulator of Erk/MAPK		chromosome 18 open reading frame 11, family with sequence similarity 59, member A	C18orf11, FAM59A	NA	19509291	Standard	NM_022751	NM_001242409	NA	Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000399218.4:c.1456C>T	18.37:g.29867104G>A	ENSP00000382165:p.Arg486*	NA		37	CCDS11905.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844341	0.91197	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	.	.	.	5.26	3.24	0.37175	.	0.227093	0.44483	D	0.000447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5531	9.5978	0.39584	0.0706:0.0:0.7444:0.1851	.	.	.	.	X	486	.	ENSP00000269209:R486X	R	-	1	2	FAM59A	28121102	0.993000	0.37304	0.179000	0.23059	0.324000	0.28378	3.758000	0.55220	0.691000	0.31592	-0.140000	0.14226	CGA	GAREM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255364.3		-	ENST00000399218.4	Nonsense_Mutation	SNP	18 : 29867104 - 29867104 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	611	19
GATAD2A	54815	broad.mit.edu	37	19	19609403	19609403	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:19609403C>A	ENST00000404158.1	+	10	1494	c.1076C>A	c.(1075-1077)aCg>aAg	p.T359K	GATAD2A_ENST00000252577.5_Missense_Mutation_p.T359K|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000358713.3_Missense_Mutation_p.T359K|GATAD2A_ENST00000360315.3_Missense_Mutation_p.T359K|GATAD2A_ENST00000429563.2_Missense_Mutation_p.T186K			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	359					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CTGGAGAAGACGCTACTCGAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	40	39			NA	NA	19		NA											NA				19609403		2203	4300	6503	SO:0001583	missense			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491	54815	54815		GATA zinc finger domain containing	29989	protein-coding gene	gene with protein product	p66 alpha	614997			NA	12183469	Standard	NM_017660	NM_017660	NA	Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000404158.1:c.1076C>A	19.37:g.19609403C>A	ENSP00000384899:p.Thr359Lys	NA	Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	37		.	.	.	.	.	.	.	.	.	.	C	31	5.086125	0.94100	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713;ENST00000429563	T;T;T;T	0.54279	1.11;1.04;1.11;0.58	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.74290	-0.3713	9	.	.	.	-12.7933	18.3542	0.90351	0.0:1.0:0.0:0.0	.	186;378;359	B4DKZ7;B5MC40;Q86YP4	.;.;P66A_HUMAN	K	359;359;378;359;186	ENSP00000353463:T359K;ENSP00000252577:T359K;ENSP00000351552:T359K;ENSP00000388416:T186K	.	T	+	2	0	GATAD2A	19470403	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	7.796000	0.85898	2.691000	0.91804	0.650000	0.86243	ACG	GATAD2A-002	NOVEL	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326672.4		+	ENST00000404158.1	Missense_Mutation	SNP	19 : 19609403 - 19609403 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	180	5
GRIK5	2901	broad.mit.edu	37	19	42563599	42563599	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:42563599G>A	ENST00000262895.3	-	5	588	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	GRIK5_ENST00000593562.1_Missense_Mutation_p.R197W|GRIK5_ENST00000301218.4_Missense_Mutation_p.R197W	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	197						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTGGGGTCCCGGCTGTCGTCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	115	126			NA	NA	19		NA											NA				42563599		2203	4300	6503	SO:0001583	missense				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737	2901	2901		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4583	protein-coding gene	gene with protein product		600283		GRIK2	NA	7527545	Standard		NM_002088	NA	Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.589C>T	19.37:g.42563599G>A	ENSP00000262895:p.Arg197Trp	NA	Q8WWG8	37	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894921	0.52121	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	D;D	0.83163	-1.69;-1.69	4.64	4.64	0.57946	Extracellular ligand-binding receptor (1);	0.635417	0.15154	N	0.277543	T	0.71005	0.3289	N	0.16478	0.41	0.40112	D	0.976504	B	0.18166	0.026	B	0.15052	0.012	T	0.69143	-0.5223	10	0.59425	D	0.04	.	10.6544	0.45667	0.0:0.0:0.6912:0.3088	.	197	Q16478	GRIK5_HUMAN	W	197	ENSP00000262895:R197W;ENSP00000301218:R197W	ENSP00000262895:R197W	R	-	1	2	GRIK5	47255439	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.442000	0.52900	2.289000	0.77006	0.561000	0.74099	CGG	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463453.1		-	ENST00000262895.3	Missense_Mutation	SNP	19 : 42563599 - 42563599 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	586	43
GSDMC	56169	broad.mit.edu	37	8	130789715	130789715	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:130789715C>T	ENST00000276708.4	-	2	1000	c.119G>A	c.(118-120)cGa>cAa	p.R40Q		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	40						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTCTTCTTTCGTAATATAAC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													153	141	145			NA	NA	8		NA											NA				130789715		2203	4300	6503	SO:0001583	missense			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697	56169	56169			7151	protein-coding gene	gene with protein product		608384	melanoma-derived leucine zipper, extra-nuclear factor	MLZE	NA	17350798	Standard		NM_031415	NA	Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.119G>A	8.37:g.130789715C>T	ENSP00000276708:p.Arg40Gln	NA	Q5XKF3|Q6P494	37	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	C	5.027	0.190676	0.09547	.	.	ENSG00000147697	ENST00000276708	T	0.23348	1.91	3.9	-0.272	0.12919	.	0.803958	0.10809	N	0.631858	T	0.07954	0.0199	N	0.11255	0.115	0.09310	N	1	P	0.35684	0.515	B	0.22753	0.041	T	0.26643	-1.0097	10	0.12430	T	0.62	.	3.0092	0.06039	0.1923:0.4599:0.0:0.3478	.	40	Q9BYG8	GSDMC_HUMAN	Q	40	ENSP00000276708:R40Q	ENSP00000276708:R40Q	R	-	2	0	GSDMC	130858897	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.989000	0.01480	-0.177000	0.10690	-0.424000	0.05967	CGA	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380586.1		-	ENST00000276708.4	Missense_Mutation	SNP	8 : 130789715 - 130789715 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	709	38
ITGB4	3691	broad.mit.edu	37	17	73728266	73728266	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:73728266G>T	ENST00000200181.3	+	12	1587	c.1400G>T	c.(1399-1401)cGc>cTc	p.R467L	ITGB4_ENST00000449880.2_Missense_Mutation_p.R467L|ITGB4_ENST00000579662.1_Missense_Mutation_p.R467L|ITGB4_ENST00000339591.3_Missense_Mutation_p.R467L|ITGB4_ENST00000450894.3_Missense_Mutation_p.R467L|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	467	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGTCAGCTCGCTGCAGCTTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	107	115			NA	NA	17		NA											NA				73728266		2203	4300	6503	SO:0001583	missense				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470	3691	3691		CD molecules, Integrins, Fibronectin type III domain containing	6158	protein-coding gene	gene with protein product		147557			NA	2070796	Standard		XM_005257309	NA	Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1400G>T	17.37:g.73728266G>T	ENSP00000200181:p.Arg467Leu	NA	O14690|O14691|O15339|O15340|O15341|Q9UIQ4	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	9.585	1.124722	0.20959	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.74737	-0.87;-0.81;-0.81	5.16	-6.43	0.01926	.	0.616465	0.14523	N	0.314320	T	0.43122	0.1233	N	0.11927	0.2	0.20196	N	0.999928	B;B;B;B;P	0.42735	0.015;0.109;0.432;0.306;0.788	B;B;B;B;B	0.37692	0.007;0.047;0.256;0.131;0.198	T	0.47018	-0.9149	10	0.49607	T	0.09	.	1.7767	0.03023	0.3493:0.0822:0.3089:0.2596	.	427;467;467;467;467	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	L	383;467;467;467	ENSP00000200181:R467L;ENSP00000344079:R467L;ENSP00000400217:R467L	ENSP00000200181:R467L	R	+	2	0	ITGB4	71239861	0.000000	0.05858	0.132000	0.22025	0.612000	0.37316	-0.551000	0.06027	-1.057000	0.03201	-0.136000	0.14681	CGC	ITGB4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448334.1		+	ENST00000200181.3	Missense_Mutation	SNP	17 : 73728266 - 73728266 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	519	13
IZUMO2	126123	broad.mit.edu	37	19	50666024	50666024	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:50666024C>T	ENST00000293405.3	-	2	279	c.279G>A	c.(277-279)acG>acA	p.T93T		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	93						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TTAAGTGCTGCGTTTGGTTCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	132	133			NA	NA	19		NA											NA				50666024		1993	4170	6163	SO:0001819	synonymous_variant			AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652	126123	126123		-	28518	protein-coding gene	gene with protein product			chromosome 19 open reading frame 41	C19orf41	NA	19658160, 22957301	Standard	NM_152358	XM_006723007	NA	Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.279G>A	19.37:g.50666024C>T		NA	Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	37	CCDS12792.2																																																																																			IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157232.1		-	ENST00000293405.3	Silent	SNP	19 : 50666024 - 50666024 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	378	32
JAKMIP1	152789	broad.mit.edu	37	4	6114531	6114531	+	Missense_Mutation	SNP	G	G	A	rs148302835	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:6114531G>A	ENST00000409021.3	-	2	496	c.47C>T	c.(46-48)aCg>aTg	p.T16M	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.T16M|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.T16M|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.T16M|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.T16M	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	16	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCGCGTCCGTCTCCATCTC	0.607		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	EXOME	NA	NA	0.0029	SNP								NA				0								G	MET/THR,MET/THR	6,4400	9.9+/-24.2	0,6,2197	127	101	110		47,47	0.9	0.1	4	dbSNP_134	110	0,8600		0,0,4300	yes	missense,missense	JAKMIP1	NM_001099433.1,NM_144720.3	81,81	0,6,6497	AA,AG,GG	NA	0.0,0.1362,0.0461	benign,benign	16/832,16/627	6114531	6,13000	2203	4300	6503	SO:0001583	missense			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969	152789	152789			26460	protein-coding gene	gene with protein product		611195			NA	18941173	Standard	NM_144720	NM_144720	NA	Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.47C>T	4.37:g.6114531G>A	ENSP00000386711:p.Thr16Met	NA	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	37	CCDS47005.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	4.194	0.034762	0.08101	0.001362	0.0	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.30448	1.94;1.53;1.94;1.94;1.53	3.94	0.904	0.19302	.	0.626666	0.14992	N	0.286656	T	0.10637	0.0260	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B	0.15719	0.014;0.002;0.014;0.014;0.005	B;B;B;B;B	0.09377	0.003;0.002;0.004;0.003;0.004	T	0.27020	-1.0086	10	0.33940	T	0.23	.	7.349	0.26680	0.507:0.0:0.493:0.0	.	16;16;16;16;16	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	M	16	ENSP00000386711:T16M;ENSP00000387042:T16M;ENSP00000282924:T16M;ENSP00000386925:T16M;ENSP00000386745:T16M	ENSP00000282924:T16M	T	-	2	0	JAKMIP1	6165432	0.008000	0.16893	0.117000	0.21633	0.587000	0.36485	1.445000	0.35079	0.316000	0.23135	0.591000	0.81541	ACG	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329747.1		-	ENST00000409021.3	Missense_Mutation	SNP	4 : 6114531 - 6114531 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	325	31
KCNA6	3742	broad.mit.edu	37	12	4919409	4919409	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:4919409G>A	ENST00000280684.3	+	1	1068	c.202G>A	c.(202-204)Gga>Aga	p.G68R	KCNA6_ENST00000433855.1_Missense_Mutation_p.G68R			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	68						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CACGCTGCTCGGAGACCCTGG	0.617		NA								HNSCC(72;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	45	45			NA	NA	12		NA											NA				4919409		2203	4300	6503	SO:0001583	missense			X17622	CCDS8534.1	12p13	2014-06-12					3742	3742		Potassium channels, Voltage-gated ion channels / Potassium channels	6225	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 96	176257			NA	16382104	Standard	NM_002235	NM_002235	NA	Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.202G>A	12.37:g.4919409G>A	ENSP00000280684:p.Gly68Arg	NA		37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075087	0.76415	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.78364	-1.17;-1.17	4.57	3.68	0.42216	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.056516	0.64402	D	0.000001	D	0.92750	0.7695	H	0.99368	4.535	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94196	0.7445	10	0.87932	D	0	.	11.8345	0.52316	0.085:0.0:0.915:0.0	.	68	P17658	KCNA6_HUMAN	R	68	ENSP00000408321:G68R;ENSP00000280684:G68R	ENSP00000280684:G68R	G	+	1	0	KCNA6	4789670	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	9.484000	0.97940	1.146000	0.42352	0.462000	0.41574	GGA	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398909.1		+	ENST00000280684.3	Missense_Mutation	SNP	12 : 4919409 - 4919409 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	345	10
KIAA0947	0	broad.mit.edu	37	5	5469027	5469027	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr5:5469027A>G	ENST00000296564.7	+	15	6370	c.6148A>G	c.(6148-6150)Atg>Gtg	p.M2050V		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN		2050										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAATAAAGCAATGCAGTTAGT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	125	127			NA	NA	5		NA											NA				5469027		1850	4088	5938	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000296564.7:c.6148A>G	5.37:g.5469027A>G	ENSP00000296564:p.Met2050Val	NA	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.909390	0.52439	.	.	ENSG00000164151	ENST00000296564	T	0.11169	2.8	5.86	5.86	0.93980	.	.	.	.	.	T	0.12220	0.0297	L	0.54323	1.7	0.36006	D	0.837716	P	0.42078	0.77	B	0.38683	0.279	T	0.11397	-1.0589	9	0.66056	D	0.02	-3.4778	9.5036	0.39033	0.8427:0.0:0.0:0.1573	.	2050	Q9Y2F5	K0947_HUMAN	V	2050	ENSP00000296564:M2050V	ENSP00000296564:M2050V	M	+	1	0	KIAA0947	5522027	0.998000	0.40836	0.931000	0.37212	0.985000	0.73830	4.050000	0.57404	2.244000	0.73946	0.528000	0.53228	ATG	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000365575.1		+	ENST00000296564.7	Missense_Mutation	SNP	5 : 5469027 - 5469027 G PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	473	22
KIAA1109	84162	broad.mit.edu	37	4	123168391	123168391	+	Silent	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:123168391G>A	ENST00000264501.4	+	35	5764	c.5391G>A	c.(5389-5391)aaG>aaA	p.K1797K	KIAA1109_ENST00000455637.1_Silent_p.K1797K|KIAA1109_ENST00000388738.3_Silent_p.K1797K			Q2LD37	K1109_HUMAN	KIAA1109	1797					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.K1797N(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGCCACAAAGATGCAGCCTC	0.393		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)											90	85	87			NA	NA	4		NA											NA				123168391		1890	4125	6015	SO:0001819	synonymous_variant			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688	84162	84162			26953	protein-coding gene	gene with protein product	fragile site-associated	611565			NA	16386706	Standard	NM_020797	NM_015312	NA	Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5391G>A	4.37:g.123168391G>A		NA	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	9.151	1.016388	0.19355	.	.	ENSG00000138688	ENST00000446180	.	.	.	5.77	3.8	0.43715	.	.	.	.	.	T	0.47930	0.1472	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43245	-0.9403	4	.	.	.	.	4.272	0.10791	0.4492:0.0:0.5508:0.0	.	.	.	.	K	370	.	.	R	+	2	0	KIAA1109	123387841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.004000	0.49513	1.449000	0.47699	0.585000	0.79938	AGA	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316415.1		+	ENST00000264501.4	Silent	SNP	4 : 123168391 - 123168391 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	360	12
KPRP	448834	broad.mit.edu	37	1	152732688	152732688	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:152732688C>T	ENST00000606109.1	+	1	652	c.624C>T	c.(622-624)ttC>ttT	p.F208F	KPRP_ENST00000368773.1_Silent_p.F208F			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	208	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCCCAGTTCCAGTTGAGGC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	160	160			NA	NA	1		NA											NA				152732688		2203	4300	6503	SO:0001819	synonymous_variant			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786	448834	448834			31823	protein-coding gene	gene with protein product		613260	chromosome 1 open reading frame 45	C1orf45	NA	16297201	Standard	NM_001025231	NM_001025231	NA	Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.624C>T	1.37:g.152732688C>T		NA		37	CCDS30862.1																																																																																			KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034522.2		+	ENST00000606109.1	Silent	SNP	1 : 152732688 - 152732688 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	836	55
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	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>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	161	15
KRT40	125115	broad.mit.edu	37	17	39137358	39137358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:39137358C>A	ENST00000398486.2	-	6	893	c.733G>T	c.(733-735)Gag>Tag	p.E245*	KRT40_ENST00000377755.4_Nonsense_Mutation_p.E245*	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	245	Linker 12.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTGTCCAGCTCCACACTGAGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	122	119			NA	NA	17		NA											NA				39137358		2065	4208	6273	SO:0001587	stop_gained			AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889	125115	125115		-, Intermediate filaments type I, keratins (acidic)	26707	protein-coding gene	gene with protein product					NA	16831889	Standard	NM_182497	NM_182497	NA	Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.733G>T	17.37:g.39137358C>A	ENSP00000381500:p.Glu245*	NA	Q6IFU5	37	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	C	36	5.889692	0.97068	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	.	.	.	5.4	5.4	0.78164	.	0.000000	0.34156	N	0.004215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	14.1854	0.65603	0.0:0.8505:0.1495:0.0	.	.	.	.	X	245	.	ENSP00000366984:E245X	E	-	1	0	KRT40	36390884	0.999000	0.42202	1.000000	0.80357	0.908000	0.53690	3.920000	0.56446	2.688000	0.91661	0.655000	0.94253	GAG	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257701.3		-	ENST00000398486.2	Nonsense_Mutation	SNP	17 : 39137358 - 39137358 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	747	76
KRT75	9119	broad.mit.edu	37	12	52827640	52827640	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:52827640C>T	ENST00000252245.5	-	1	669	c.449G>A	c.(448-450)cGc>cAc	p.R150H		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	150	Coil 1A.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GATCTGCTCGCGCTCCTCGGC	0.562		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8689	EXOME	NA	NA	3e-04	SNP								NA				0													147	148	148			NA	NA	12		NA											NA				52827640		2203	4300	6503	SO:0001583	missense			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454	9119	9119		-, Intermediate filaments type II, keratins (basic)	24431	protein-coding gene	gene with protein product		609025			NA	9856802, 10692104, 16831889	Standard	NM_004693	NM_004693	NA	Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.449G>A	12.37:g.52827640C>T	ENSP00000252245:p.Arg150His	NA	B4DQU4|Q9NSA9	37	CCDS8827.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.4	4.145521	0.77888	.	.	ENSG00000170454	ENST00000252245	D	0.90133	-2.62	5.74	4.72	0.59763	Filament (1);	0.164522	0.29692	N	0.011442	D	0.94785	0.8316	H	0.94808	3.585	0.30984	N	0.722149	P	0.50943	0.94	P	0.52793	0.709	D	0.94024	0.7295	10	0.87932	D	0	.	9.8904	0.41288	0.0:0.7972:0.0:0.2028	.	150	O95678	K2C75_HUMAN	H	150	ENSP00000252245:R150H	ENSP00000252245:R150H	R	-	2	0	KRT75	51113907	0.984000	0.35163	0.608000	0.28969	0.884000	0.51177	2.211000	0.42825	1.168000	0.42723	0.655000	0.94253	CGC	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404968.1		-	ENST00000252245.5	Missense_Mutation	SNP	12 : 52827640 - 52827640 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	684	30
KRT77	374454	broad.mit.edu	37	12	53097128	53097128	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:53097128T>C	ENST00000341809.3	-	1	119	c.91A>G	c.(91-93)Agt>Ggt	p.S31G	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	31	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACTGCCGGACTCCCACCACCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	88	86			NA	NA	12		NA											NA				53097128		2203	4300	6503	SO:0001583	missense			BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182	374454	374454		-, Intermediate filaments type II, keratins (basic)	20411	protein-coding gene	gene with protein product		611158	keratin 1B	KRT1B	NA	11683385, 16831889	Standard	NM_175078	NM_175078	NA	Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.91A>G	12.37:g.53097128T>C	ENSP00000342710:p.Ser31Gly	NA	Q7RTS8	37	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	T	9.588	1.125287	0.20959	.	.	ENSG00000189182	ENST00000341809	D	0.85629	-2.01	4.63	2.25	0.28309	.	.	.	.	.	T	0.77725	0.4173	L	0.46741	1.465	0.34255	D	0.679289	B	0.06786	0.001	B	0.06405	0.002	T	0.72367	-0.4315	9	0.35671	T	0.21	.	7.0093	0.24853	0.0:0.2621:0.0:0.7379	.	31	Q7Z794	K2C1B_HUMAN	G	31	ENSP00000342710:S31G	ENSP00000342710:S31G	S	-	1	0	KRT77	51383395	0.000000	0.05858	0.349000	0.25694	0.480000	0.33159	0.067000	0.14510	0.377000	0.24735	0.482000	0.46254	AGT	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404111.1		-	ENST00000341809.3	Missense_Mutation	SNP	12 : 53097128 - 53097128 C PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	282	8
LAMB3	3914	broad.mit.edu	37	1	209799234	209799234	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:209799234C>T	ENST00000356082.4	-	14	1869	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	LAMB3_ENST00000367030.3_Missense_Mutation_p.V579M|LAMB3_ENST00000391911.1_Missense_Mutation_p.V579M	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	579	Domain II.|Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGGCAGGCCACGCACACCGGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	32	32			NA	NA	1		NA											NA				209799234		2202	4300	6502	SO:0001583	missense			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878	3914	3914		Laminins	6490	protein-coding gene	gene with protein product		150310	laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))	LAMNB1	NA	8088808, 7774918	Standard	NM_000228	NM_001127641	NA	Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1735G>A	1.37:g.209799234C>T	ENSP00000348384:p.Val579Met	NA	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988775	0.35131	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.55588	0.51;0.51;0.51	5.24	3.17	0.36434	EGF-like, laminin (2);	0.654291	0.16212	N	0.224446	T	0.57080	0.2029	L	0.38953	1.18	0.22479	N	0.999064	D	0.89917	1.0	D	0.66602	0.945	T	0.41520	-0.9504	10	0.46703	T	0.11	.	8.3866	0.32503	0.0:0.6207:0.2998:0.0795	.	579	Q13751	LAMB3_HUMAN	M	579	ENSP00000375778:V579M;ENSP00000348384:V579M;ENSP00000355997:V579M	ENSP00000348384:V579M	V	-	1	0	LAMB3	207865857	0.030000	0.19436	0.901000	0.35422	0.169000	0.22640	0.404000	0.20999	1.160000	0.42584	0.456000	0.33151	GTG	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088525.2		-	ENST00000356082.4	Missense_Mutation	SNP	1 : 209799234 - 209799234 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	149	7
LRP2	4036	broad.mit.edu	37	2	170177381	170177381	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:170177381C>T	ENST00000443831.1	-	2	227	c.93G>A	c.(91-93)gcG>gcA	p.A31A	LRP2_ENST00000263816.3_Silent_p.A31A			P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	31	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.A31A(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCGAAAATGCGCACTGTCAC	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	breast(1)											113	96	102			NA	NA	2		NA											NA				170177381		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479	4036	4036		Low density lipoprotein receptors	6694	protein-coding gene	gene with protein product	megalin	600073			NA	7959795	Standard	NM_004525	NM_004525	NA	Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000443831.1:c.93G>A	2.37:g.170177381C>T		NA	O00711|Q16215	37																																																																																				LRP2-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000337306.1		-	ENST00000443831.1	Silent	SNP	2 : 170177381 - 170177381 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	421	19
LRRC43	254050	broad.mit.edu	37	12	122687867	122687867	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr12:122687867C>T	ENST00000339777.4	+	12	1877	c.1849C>T	c.(1849-1851)Ccg>Tcg	p.P617S	LRRC43_ENST00000425921.1_Missense_Mutation_p.P432S	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	617										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCAGAAAAGCCGAAAGCCGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	95	93			NA	NA	12		NA											NA				122687867		1915	4136	6051	SO:0001583	missense			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113	254050	254050			28562	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152759	NM_152759	NA	Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1849C>T	12.37:g.122687867C>T	ENSP00000344233:p.Pro617Ser	NA	Q6ZVT9	37	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	C	8.029	0.761252	0.15914	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.52526	0.66;1.08	4.59	-9.19	0.00685	.	3.517060	0.00721	N	0.000881	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34502	-0.9826	10	0.02654	T	1	0.2056	1.2819	0.02043	0.1967:0.3745:0.1692:0.2597	.	617	Q8N309	LRC43_HUMAN	S	617;488;432	ENSP00000344233:P617S;ENSP00000416628:P432S	ENSP00000289014:P488S	P	+	1	0	LRRC43	121253820	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.381000	0.02549	-2.550000	0.00480	-0.311000	0.09066	CCG	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401589.1		+	ENST00000339777.4	Missense_Mutation	SNP	12 : 122687867 - 122687867 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	500	26
MDGA2	161357	broad.mit.edu	37	14	47343251	47343251	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:47343251C>A	ENST00000426342.1	-	13	2442	c.1696G>T	c.(1696-1698)Gaa>Taa	p.E566*	MDGA2_ENST00000357362.3_Nonsense_Mutation_p.E566*|MDGA2_ENST00000399232.2_Nonsense_Mutation_p.E795*|MDGA2_ENST00000439988.3_Nonsense_Mutation_p.E864*|MDGA2_ENST00000399222.3_5'UTR	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	795	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCATACCTTCTTTGGAGCCA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	163	167			NA	NA	14		NA											NA				47343251		1837	4091	5928	SO:0001587	stop_gained			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915	161357	161357		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	19835	protein-coding gene	gene with protein product		611128	MAM domain containing 1	MAMDC1	NA	15019943	Standard	NM_182830	NM_001113498	NA	Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000426342.1:c.1696G>T	14.37:g.47343251C>A	ENSP00000405456:p.Glu566*	NA		37	CCDS41948.1	.	.	.	.	.	.	.	.	.	.	C	37	6.552354	0.97658	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.	.	.	5.17	5.17	0.71159	.	0.270115	0.25310	U	0.031594	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.0473	0.58933	0.0:0.8381:0.1619:0.0	.	.	.	.	X	795;566;864;566	.	ENSP00000349925:E566X	E	-	1	0	MDGA2	46413001	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.163000	0.71880	2.395000	0.81488	0.467000	0.42956	GAA	MDGA2-202	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277084.2		-	ENST00000426342.1	Nonsense_Mutation	SNP	14 : 47343251 - 47343251 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	794	11
MUC20	200958	broad.mit.edu	37	3	195453211	195453211	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:195453211C>T	ENST00000436408.1	+	2	1861	c.1737C>T	c.(1735-1737)gcC>gcT	p.A579A	MUC20_ENST00000447234.2_Silent_p.A579A|MUC20_ENST00000445522.2_Silent_p.A544A|MUC20_ENST00000320736.6_Silent_p.A408A			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	579	Involved in oligomerization.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCTCGGAAGCCGCCCTCAAGA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4069		0,1,2034	62	60	60		1119,1224	-1.7	0	3		60	0,8398		0,0,4199	no	coding-synonymous,coding-synonymous	MUC20	NM_001098516.1,NM_152673.2	,	0,1,6233	TT,TC,CC	NA	0.0,0.0246,0.0080	,	373/504,408/539	195453211	1,12467	2035	4199	6234	SO:0001819	synonymous_variant			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945	200958	200958		Mucins	23282	protein-coding gene	gene with protein product		610360			NA	14565953	Standard	NM_152673	NM_001282506	NA	Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000436408.1:c.1737C>T	3.37:g.195453211C>T		NA	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	37																																																																																				MUC20-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000341836.1		+	ENST00000436408.1	Silent	SNP	3 : 195453211 - 195453211 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	440	10
MYO16	23026	broad.mit.edu	37	13	109704657	109704657	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:109704657A>G	ENST00000357550.2	+	24	2857	c.2816A>G	c.(2815-2817)aAt>aGt	p.N939S	MYO16_ENST00000457511.2_Missense_Mutation_p.N451S|MYO16_ENST00000356711.2_Missense_Mutation_p.N939S	NM_001198950.1	NP_001185879.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	939	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCTAGTGAAAATGTCGTGATC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	92	97			NA	NA	13		NA											NA				109704657		2203	4300	6503	SO:0001583	missense				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515	23026	23026		Myosins / Myosin superfamily : Class XVI, Ankyrin repeat domain containing	29822	protein-coding gene	gene with protein product	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3, protein phosphatase 1, regulatory subunit 107	615479			NA	11588169, 17029291, 21946561	Standard	NM_015011	NM_001198950	NA	Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2816A>G	13.37:g.109704657A>G	ENSP00000350160:p.Asn939Ser	NA	A6H8Y0|A8MTX3|Q5VYX4|Q5VYX5|Q5VYX6|Q6ZS13|Q8N3C2|Q8N948	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904230	0.52333	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000375857;ENST00000457511	D;D;D	0.86627	-2.15;-2.15;-2.15	5.96	5.96	0.96718	Myosin head, motor domain (2);	0.000000	0.43260	U	0.000582	D	0.84005	0.5377	L	0.50993	1.605	0.51767	D	0.99993	P;B;P	0.40282	0.453;0.291;0.711	B;B;B	0.38056	0.172;0.1;0.264	T	0.83210	-0.0074	9	.	.	.	.	15.6089	0.76699	1.0:0.0:0.0:0.0	.	451;939;939	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	S	939;939;727;451	ENSP00000349145:N939S;ENSP00000350160:N939S;ENSP00000401633:N451S	.	N	+	2	0	MYO16	108502658	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.917000	0.69989	2.279000	0.76181	0.533000	0.62120	AAT	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045746.1		+	ENST00000357550.2	Missense_Mutation	SNP	13 : 109704657 - 109704657 G PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	567	69
MYOG	4656	broad.mit.edu	37	1	203054999	203054999	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:203054999C>T	ENST00000241651.4	-	1	165	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	31					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.E31K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CCTGGTGGTTCGAAGCCCTGG	0.637		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)											50	47	48			NA	NA	1		NA											NA				203054999		2203	4300	6503	SO:0001583	missense			BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180	4656	4656		Basic helix-loop-helix proteins	7612	protein-coding gene	gene with protein product		159980		MYF4	NA	10329008	Standard	NM_002479	NM_002479	NA	Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.91G>A	1.37:g.203054999C>T	ENSP00000241651:p.Glu31Lys	NA	Q53XW6	37	CCDS1433.1	.	.	.	.	.	.	.	.	.	.	c	26.8	4.774527	0.90108	.	.	ENSG00000122180	ENST00000241651	T	0.80214	-1.35	5.68	5.68	0.88126	Myogenic basic muscle-specific protein (2);	0.401828	0.27654	N	0.018407	T	0.78672	0.4320	M	0.74258	2.255	0.58432	D	0.999994	B	0.33612	0.419	B	0.27170	0.077	T	0.79926	-0.1597	10	0.66056	D	0.02	.	13.0541	0.58969	0.0:0.9267:0.0:0.0733	.	31	P15173	MYOG_HUMAN	K	31	ENSP00000241651:E31K	ENSP00000241651:E31K	E	-	1	0	MYOG	201321622	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	5.539000	0.67199	2.679000	0.91253	0.558000	0.71614	GAA	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000100279.1		-	ENST00000241651.4	Missense_Mutation	SNP	1 : 203054999 - 203054999 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	283	8
NDST3	9348	broad.mit.edu	37	4	119161830	119161830	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:119161830T>C	ENST00000296499.5	+	11	2673	c.2270T>C	c.(2269-2271)gTt>gCt	p.V757A		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	757	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGATGGCTTGTTTATTTCCCC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	76	78			NA	NA	4		NA											NA				119161830		2203	4300	6503	SO:0001583	missense			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100	9348	9348		Sulfotransferases, membrane-bound	7682	protein-coding gene	gene with protein product		603950			NA	9915799	Standard	NM_004784	NM_004784	NA	Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.2270T>C	4.37:g.119161830T>C	ENSP00000296499:p.Val757Ala	NA	Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	37	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	T	8.239	0.806313	0.16467	.	.	ENSG00000164100	ENST00000296499	T	0.50548	0.74	5.49	2.98	0.34508	Sulfotransferase domain (1);	0.452871	0.23700	N	0.045428	T	0.11067	0.0270	N	0.00595	-1.35	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27673	-1.0067	10	0.09084	T	0.74	.	1.7572	0.02984	0.2575:0.2262:0.0:0.5164	.	757	O95803	NDST3_HUMAN	A	757	ENSP00000296499:V757A	ENSP00000296499:V757A	V	+	2	0	NDST3	119381278	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	2.840000	0.48215	2.212000	0.71576	0.533000	0.62120	GTT	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256517.4		+	ENST00000296499.5	Missense_Mutation	SNP	4 : 119161830 - 119161830 C PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	375	26
NLRP5	126206	broad.mit.edu	37	19	56538511	56538511	+	Silent	SNP	G	G	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr19:56538511G>T	ENST00000390649.3	+	7	912	c.912G>T	c.(910-912)gcG>gcT	p.A304A		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	304	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGTGCTGGGCGCAAGGTGGAC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	54	52			NA	NA	19		NA											NA				56538511		2111	4222	6333	SO:0001819	synonymous_variant			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487	126206	126206		Nucleotide-binding domain and leucine rich repeat containing	21269	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5	609658	NACHT, leucine rich repeat and PYD containing 5	NALP5	NA	12563287, 11925379	Standard	NM_153447	NM_153447	NA	Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.912G>T	19.37:g.56538511G>T		NA	A8MTY4|Q86W29	37	CCDS12938.1																																																																																			NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313735.1		+	ENST00000390649.3	Silent	SNP	19 : 56538511 - 56538511 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	77	6
NTM	50863	broad.mit.edu	37	11	132180047	132180047	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr11:132180047G>A	ENST00000374786.1	+	5	1182	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	NTM_ENST00000374784.1_Missense_Mutation_p.V235M|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Missense_Mutation_p.V226M|NTM_ENST00000539799.1_Missense_Mutation_p.V235M|NTM_ENST00000425719.2_Missense_Mutation_p.V235M|NTM_ENST00000374791.3_Missense_Mutation_p.V235M	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	235	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGGTGTCCCCGTGGGACAAAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	142	142			NA	NA	11		NA											NA				132180047		2201	4297	6498	SO:0001583	missense			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667	50863	50863		Immunoglobulin superfamily / I-set domain containing	17941	protein-coding gene	gene with protein product	neurotrimin, IgLON family member 2	607938			NA	7891157	Standard	NM_016522	NM_001048209	NA	Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.703G>A	11.37:g.132180047G>A	ENSP00000363918:p.Val235Met	NA	A0MTT2|Q6UXJ3|Q86VJ9	37	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443598	0.83993	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75	6.07	6.07	0.98685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.053565	0.85682	D	0.000000	T	0.79741	0.4498	M	0.76938	2.355	0.58432	D	0.999997	D;P;P;P;P;P	0.57899	0.981;0.955;0.723;0.88;0.723;0.855	P;B;B;B;B;B	0.47786	0.557;0.418;0.216;0.418;0.294;0.294	T	0.80850	-0.1198	10	0.48119	T	0.1	-13.6786	16.051	0.80763	0.0:0.1333:0.8667:0.0	.	235;226;235;235;235;235	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	M	235;235;226;235;235;235	ENSP00000363923:V235M;ENSP00000437668:V235M;ENSP00000416320:V226M;ENSP00000363918:V235M;ENSP00000396722:V235M;ENSP00000363916:V235M	ENSP00000363916:V235M	V	+	1	0	NTM	131685257	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	3.772000	0.55325	2.884000	0.98904	0.655000	0.94253	GTG	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141937.1		+	ENST00000374786.1	Missense_Mutation	SNP	11 : 132180047 - 132180047 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	834	53
NTRK2	4915	broad.mit.edu	37	9	87635240	87635240	+	Silent	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr9:87635240C>A	ENST00000277120.3	+	18	2775	c.2292C>A	c.(2290-2292)acC>acA	p.T764T	NTRK2_ENST00000376213.1_Silent_p.T748T|NTRK2_ENST00000323115.4_Silent_p.T748T|NTRK2_ENST00000376214.1_Silent_p.T764T			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	748	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AGATTTTCACCTATGGCAAAC	0.557		NA								TSP Lung(25;0.17)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	118	122			NA	NA	9		NA											NA				87635240		2203	4300	6503	SO:0001819	synonymous_variant			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	4915	4915	2.7.10.1	Immunoglobulin superfamily / I-set domain containing	8032	protein-coding gene	gene with protein product		600456			NA	7789988	Standard		NM_001018065	NA	Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000277120.3:c.2292C>A	9.37:g.87635240C>A		NA	B1ANZ4|Q16675|Q8WXJ6	37	CCDS6671.1																																																																																			NTRK2-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052885.1		+	ENST00000277120.3	Silent	SNP	9 : 87635240 - 87635240 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	811	35
OR2T10	127069	broad.mit.edu	37	1	248756293	248756293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:248756293G>C	ENST00000330500.2	-	1	807	c.777C>G	c.(775-777)taC>taG	p.Y259*		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGGAGCATGTAGTTGTAAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	68	67			NA	NA	1		NA											NA				248756293		2050	4236	6286	SO:0001587	stop_gained				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022	127069	127069		GPCR / Class A : Olfactory receptors	19573	protein-coding gene	gene with protein product					NA		Standard	NM_001004693	NM_001004693	NA	Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.777C>G	1.37:g.248756293G>C	ENSP00000329210:p.Tyr259*	NA	B2RNK7	37	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	8.049	0.765657	0.15983	.	.	ENSG00000184022	ENST00000330500	.	.	.	2.35	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.48830	D	0.999716	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6709	0.12689	0.4638:0.0:0.5362:0.0	.	.	.	.	X	259	.	ENSP00000329210:Y259X	Y	-	3	2	OR2T10	246822916	0.000000	0.05858	0.755000	0.31263	0.104000	0.19210	-0.746000	0.04829	0.183000	0.20059	-0.409000	0.06214	TAC	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097139.1		-	ENST00000330500.2	Nonsense_Mutation	SNP	1 : 248756293 - 248756293 C PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	322	24
OR4Q3	441669	broad.mit.edu	37	14	20216249	20216249	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr14:20216249C>T	ENST00000331723.1	+	1	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTATGCTATCATCCTGATCA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	156	168			NA	NA	14		NA											NA				20216249		2203	4300	6503	SO:0001819	synonymous_variant			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652	441669	441669		GPCR / Class A : Olfactory receptors	15426	protein-coding gene	gene with protein product				OR4Q4	NA		Standard		NM_172194	NA	Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.663C>T	14.37:g.20216249C>T		NA	Q6IEX4	37	CCDS32020.1																																																																																			OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000409818.2		+	ENST00000331723.1	Silent	SNP	14 : 20216249 - 20216249 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	525	21
P2RY4	5030	broad.mit.edu	37	X	69478844	69478844	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:69478844C>T	ENST00000374519.2	-	1	810	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	211					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						AGGCAGGGCACGCCAAAGAGC	0.587		NA											C	1	6e-04	NA	NA	1659	NA	1	,	,	NA	2e-04	0.0017	NA	NA	5e-04	1	EXOME	NA	NA	4e-04	SNP								NA				0													79	71	74			NA	NA	X		NA											NA				69478844		2203	4300	6503	SO:0001583	missense			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912	5030	5030		Purinergic receptors, GPCR / Class A : Purinergic receptors, P2Y	8542	protein-coding gene	gene with protein product		300038			NA	8537336	Standard	NM_002565	NM_002565	NA	Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.631G>A	X.37:g.69478844C>T	ENSP00000363643:p.Val211Met	NA	Q4VBB7|Q4VBB8|Q502W2|Q5JT22	37	CCDS14398.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.92	2.081633	0.36758	.	.	ENSG00000186912	ENST00000374519	T	0.26373	1.74	4.43	-1.97	0.07503	GPCR, rhodopsin-like superfamily (1);	0.845492	0.10248	U	0.697532	T	0.20455	0.0492	L	0.38953	1.18	0.09310	N	1	P	0.47106	0.89	P	0.49421	0.61	T	0.11567	-1.0582	10	0.44086	T	0.13	.	0.2633	0.00221	0.2575:0.2715:0.2178:0.2532	.	211	P51582	P2RY4_HUMAN	M	211	ENSP00000363643:V211M	ENSP00000363643:V211M	V	-	1	0	P2RY4	69395569	0.000000	0.05858	0.069000	0.20011	0.928000	0.56348	-0.525000	0.06214	-0.351000	0.08249	-0.239000	0.12128	GTG	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057058.2		-	ENST00000374519.2	Missense_Mutation	SNP	X : 69478844 - 69478844 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	170	8
PBRM1	55193	broad.mit.edu	37	3	52649473	52649473	+	Splice_Site	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:52649473C>T	ENST00000409114.3	-	16	1866		c.e16-1		PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1	NA					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTATAAACCTACATTCCAA	0.338		NA	Mis, N, F, S, D, O		clear cell renal carcinoma, breast									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		3	3p21	55193	polybromo 1		E	0													78	74	75			NA	NA	3		NA											NA				52649473		2203	4300	6503	SO:0001630	splice_region_variant			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939	55193	55193			30064	protein-coding gene	gene with protein product		606083			NA	11078522, 11483580	Standard	NM_018165	NM_018313	NA	Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000409114.3:c.1864-1G>A	3.37:g.52649473C>T		NA	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	37		.	.	.	.	.	.	.	.	.	.	C	15.35	2.806869	0.50421	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8084	0.96538	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52624513	1.000000	0.71417	0.998000	0.56505	0.452000	0.32318	7.487000	0.81328	2.687000	0.91594	0.462000	0.41574	.	PBRM1-006	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327230.1	Intron	-	ENST00000409114.3	Splice_Site	SNP	3 : 52649473 - 52649473 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	316	24
PKD1L1	168507	broad.mit.edu	37	7	47944116	47944116	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:47944116G>A	ENST00000289672.2	-	12	1840	c.1790C>T	c.(1789-1791)aCg>aTg	p.T597M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	597	PKD 2.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAGGGGGACGTGAGCCGATT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	80	88			NA	NA	7		NA											NA				47944116		2203	4300	6503	SO:0001583	missense			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683	168507	168507			18053	protein-coding gene	gene with protein product	polycystin-1L1	609721			NA	11863367	Standard	NM_138295	NM_138295	NA	Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1790C>T	7.37:g.47944116G>A	ENSP00000289672:p.Thr597Met	NA	Q6UWK1	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	3.658	-0.070119	0.07228	.	.	ENSG00000158683	ENST00000289672	T	0.68181	-0.31	4.9	-3.89	0.04193	PKD/Chitinase domain (1);PKD domain (2);	3.200300	0.00966	N	0.003172	T	0.54447	0.1859	L	0.29908	0.895	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.41413	-0.9510	10	0.32370	T	0.25	0.1517	10.9535	0.47343	0.5301:0.0:0.4699:0.0	.	597	Q8TDX9	PK1L1_HUMAN	M	597	ENSP00000289672:T597M	ENSP00000289672:T597M	T	-	2	0	PKD1L1	47910641	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.434000	0.06939	-0.854000	0.04131	-1.177000	0.01723	ACG	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340974.1		-	ENST00000289672.2	Missense_Mutation	SNP	7 : 47944116 - 47944116 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	317	12
PKHD1L1	93035	broad.mit.edu	37	8	110457259	110457259	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr8:110457259C>A	ENST00000378402.5	+	38	5265	c.5161C>A	c.(5161-5163)Ctt>Att	p.L1721I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1721	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCCCAACAGCTTGTGGATGT	0.438		NA								HNSCC(38;0.096)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	192	195			NA	NA	8		NA											NA				110457259		1918	4133	6051	SO:0001583	missense			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038	93035	93035			20313	protein-coding gene	gene with protein product		607843			NA	12620974	Standard	NM_177531	NM_177531	NA	Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5161C>A	8.37:g.110457259C>A	ENSP00000367655:p.Leu1721Ile	NA	Q567P2|Q9UF27	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	7.230	0.599079	0.13939	.	.	ENSG00000205038	ENST00000378402	T	0.78003	-1.14	6.17	5.27	0.74061	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.524512	0.19441	N	0.114191	T	0.74816	0.3766	L	0.54323	1.7	0.09310	N	1	P	0.35527	0.507	B	0.40602	0.334	T	0.64647	-0.6358	10	0.22706	T	0.39	.	12.7395	0.57243	0.2809:0.7191:0.0:0.0	.	1721	Q86WI1	PKHL1_HUMAN	I	1721	ENSP00000367655:L1721I	ENSP00000367655:L1721I	L	+	1	0	PKHD1L1	110526435	0.000000	0.05858	0.659000	0.29680	0.463000	0.32649	-0.229000	0.09098	2.941000	0.99782	0.655000	0.94253	CTT	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381017.1		+	ENST00000378402.5	Missense_Mutation	SNP	8 : 110457259 - 110457259 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	1053	151
REG3A	5068	broad.mit.edu	37	2	79384703	79384703	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:79384703C>T	ENST00000409839.3	-	5	491	c.455G>A	c.(454-456)aGc>aAc	p.S152N	REG3A_ENST00000305165.2_Missense_Mutation_p.S152N|REG3A_ENST00000393878.1_Missense_Mutation_p.S152N	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	152	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CTTACCTGTGCTTCTCGACAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	108	107			NA	NA	2		NA											NA				79384703		2203	4300	6503	SO:0001583	missense			S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016	5068	5068			8601	protein-coding gene	gene with protein product		167805	pancreatitis-associated protein	PAP	NA	8188210	Standard	NM_002580	NM_002580	NA	Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.455G>A	2.37:g.79384703C>T	ENSP00000386630:p.Ser152Asn	NA		37	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	3.186	-0.166825	0.06461	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.18810	2.19;2.19;2.19	3.87	-7.73	0.01245	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	1.045080	0.07478	N	0.903419	T	0.11367	0.0277	L	0.38733	1.17	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19976	-1.0289	10	0.15499	T	0.54	.	4.6128	0.12411	0.0829:0.1018:0.2213:0.594	.	152	Q06141	REG3A_HUMAN	N	152	ENSP00000386630:S152N;ENSP00000377456:S152N;ENSP00000304311:S152N	ENSP00000304311:S152N	S	-	2	0	REG3A	79238211	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.756000	0.00374	-3.453000	0.00160	-1.185000	0.01705	AGC	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252290.2		-	ENST00000409839.3	Missense_Mutation	SNP	2 : 79384703 - 79384703 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	579	26
RS1	6247	broad.mit.edu	37	X	18674869	18674869	+	Missense_Mutation	SNP	C	C	T	rs146477940	byFrequency	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chrX:18674869C>T	ENST00000379984.3	-	3	128	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	30					cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CAGGGGTCCTCGCCTTCATCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	LYS/GLU	1,3834		0,1,0,1631,571	150	114	126		88	5.2	1	X	dbSNP_134	126	1,6727		0,0,1,2428,1871	no	missense	RS1	NM_000330.3	56	0,1,1,4059,2442	TT,TC,T,CC,C	NA	0.0149,0.0261,0.0189	benign	30/225	18674869	2,10561	2203	4300	6503	SO:0001583	missense			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104	6247	6247			10457	protein-coding gene	gene with protein product		300839	retinoschisis (X-linked, juvenile) 1	RS	NA	9326935, 17804407	Standard		NM_000330	NA	Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.88G>A	X.37:g.18674869C>T	ENSP00000369320:p.Glu30Lys	NA		37	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064013	0.20067	2.61E-4	1.49E-4	ENSG00000102104	ENST00000379984	D	0.98249	-4.82	5.15	5.15	0.70609	.	0.496244	0.22178	N	0.063545	D	0.94381	0.8193	L	0.46157	1.445	0.26249	N	0.978759	B	0.31040	0.305	B	0.19148	0.024	D	0.85724	0.1327	10	0.06625	T	0.88	.	8.4044	0.32605	0.1599:0.6651:0.175:0.0	.	30	O15537	XLRS1_HUMAN	K	30	ENSP00000369320:E30K	ENSP00000369320:E30K	E	-	1	0	RS1	18584790	0.808000	0.29022	0.995000	0.50966	0.113000	0.19764	1.244000	0.32778	2.264000	0.75181	0.600000	0.82982	GAG	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055949.1		-	ENST00000379984.3	Missense_Mutation	SNP	X : 18674869 - 18674869 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	567	39
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr3:38591931C>G	ENST00000455624.2	-	27	5857	c.5833G>C	c.(5833-5835)Gac>Cac	p.D1945H	SCN5A_ENST00000333535.4_Missense_Mutation_p.D1978H|SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGACACTGTCATAGGAGGGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	47	45			NA	NA	3		NA											NA				38591931		2022	4172	6194	SO:0001583	missense			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.5833G>C	3.37:g.38591931C>G	ENSP00000399524:p.Asp1945His	NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565807	0.65651	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96856	-4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08	4.95	4.95	0.65309	.	0.058474	0.64402	D	0.000003	D	0.95529	0.8547	N	0.08118	0	0.54753	D	0.999986	D;D;P;D;D;D	0.89917	0.959;1.0;0.64;0.999;0.958;1.0	P;D;B;D;P;D	0.85130	0.496;0.997;0.387;0.973;0.693;0.996	D	0.97067	0.9775	10	0.62326	D	0.03	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1924;1945;1960;1978;1977;1978	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1960;1977;1978;1924;1977;1960;1978;1945;1924;1924	ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H	ENSP00000328968:D1978H	D	-	1	0	SCN5A	38566935	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.781000	0.62389	2.573000	0.86826	0.655000	0.94253	GAC	SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Missense_Mutation	SNP	3 : 38591931 - 38591931 G PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	244	7
SLC44A5	204962	broad.mit.edu	37	1	75685021	75685021	+	Missense_Mutation	SNP	G	G	A	rs148437935	by1000genomes	TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr1:75685021G>A	ENST00000370855.5	-	16	1300	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	SLC44A5_ENST00000370859.3_Missense_Mutation_p.A396V|SLC44A5_ENST00000535611.1_Missense_Mutation_p.A266V	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	396						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A396V(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCCCGATGTCGCCAAGAAACT	0.393		NA											G	0	0	NA	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	0	0	EXOME	NA	NA	5e-04	SNP								NA				1	Substitution - Missense(1)	large_intestine(1)											86	80	82			NA	NA	1		NA											NA				75685021		2203	4300	6503	SO:0001583	missense			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968	204962	204962		Solute carriers	28524	protein-coding gene	gene with protein product					NA	15715662	Standard	NM_152697	NM_152697	NA	Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1187C>T	1.37:g.75685021G>A	ENSP00000359892:p.Ala396Val	NA	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	37	CCDS667.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.18	3.778685	0.70107	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.22945	1.93;1.93;1.93	5.04	5.04	0.67666	.	0.216170	0.47852	D	0.000216	T	0.40398	0.1115	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D	0.65815	0.99;0.991;0.99;0.995;0.988	P;P;P;P;P	0.57324	0.818;0.745;0.818;0.807;0.629	T	0.24941	-1.0146	10	0.27082	T	0.32	-12.0802	18.7654	0.91869	0.0:0.0:1.0:0.0	.	390;435;396;396;435	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	V	396;435;396;266;389	ENSP00000359896:A396V;ENSP00000359892:A396V;ENSP00000443090:A266V	ENSP00000359892:A396V	A	-	2	0	SLC44A5	75457609	1.000000	0.71417	0.998000	0.56505	0.103000	0.19146	7.142000	0.77339	2.504000	0.84457	0.655000	0.94253	GCG	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026921.1		-	ENST00000370855.5	Missense_Mutation	SNP	1 : 75685021 - 75685021 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	306	12
SVOPL	136306	broad.mit.edu	37	7	138341226	138341226	+	Silent	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:138341226C>T	ENST00000421622.1	-	4	383				SVOPL_ENST00000419765.3_Silent_p.T167T|SVOPL_ENST00000436657.1_Silent_p.T15T|SVOPL_ENST00000288513.5_Silent_p.T15T			Q8N434	SVOPL_HUMAN	SVOP-like	NA						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCGGTATTTCGTGGGCAAAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,	1,4405	2.1+/-5.4	0,1,2202	136	125	129		501,45	-6.6	1	7		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SVOPL	NM_001139456.1,NM_174959.2	,	0,2,6501	TT,TC,CC	NA	0.0116,0.0227,0.0154	,	167/493,15/341	138341226	2,13004	2203	4300	6503	SO:0001627	intron_variant			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703	136306	136306			27034	protein-coding gene	gene with protein product		611700	SV2 related protein homolog (rat)-like		NA		Standard	NM_174959	NM_001139456	NA	Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000421622.1:c.175-7344G>A	7.37:g.138341226C>T		NA		37																																																																																				SVOPL-004	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000342091.2		-	ENST00000421622.1	Intron	SNP	7 : 138341226 - 138341226 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	694	82
TMEM131	23505	broad.mit.edu	37	2	98430514	98430514	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:98430514G>T	ENST00000186436.5	-	15	1765	c.1537C>A	c.(1537-1539)Cac>Aac	p.H513N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	513						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTATCAATGTGCATGGATGAT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	70	72			NA	NA	2		NA											NA				98430514		1874	4110	5984	SO:0001583	missense			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568	23505	23505			30366	protein-coding gene	gene with protein product		615659			NA	9039502, 10996388	Standard	XM_371542	NM_015348	NA	Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1537C>A	2.37:g.98430514G>T	ENSP00000186436:p.His513Asn	NA		37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615698	0.87359	.	.	ENSG00000075568	ENST00000186436	T	0.29917	1.55	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	L	0.51422	1.61	0.80722	D	1	P	0.40578	0.722	B	0.42625	0.393	T	0.04635	-1.0937	10	0.08179	T	0.78	-7.5095	20.0784	0.97758	0.0:0.0:1.0:0.0	.	513	Q92545	TM131_HUMAN	N	513	ENSP00000186436:H513N	ENSP00000186436:H513N	H	-	1	0	TMEM131	97796946	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.022000	0.93678	2.736000	0.93811	0.655000	0.94253	CAC	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329285.2		-	ENST00000186436.5	Missense_Mutation	SNP	2 : 98430514 - 98430514 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	69	6
TMEM131	23505	broad.mit.edu	37	2	98430515	98430515	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr2:98430515C>A	ENST00000186436.5	-	15	1764	c.1536G>T	c.(1534-1536)atG>atT	p.M512I		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	512						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TATCAATGTGCATGGATGATG	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	70	72			NA	NA	2		NA											NA				98430515		1875	4111	5986	SO:0001583	missense			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568	23505	23505			30366	protein-coding gene	gene with protein product		615659			NA	9039502, 10996388	Standard	XM_371542	NM_015348	NA	Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1536G>T	2.37:g.98430515C>A	ENSP00000186436:p.Met512Ile	NA		37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	5.674	0.308987	0.10733	.	.	ENSG00000075568	ENST00000186436	T	0.28069	1.63	5.81	1.59	0.23543	.	0.265412	0.43919	N	0.000513	T	0.06234	0.0161	N	0.00926	-1.1	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30736	-0.9968	10	0.02654	T	1	-12.6824	1.8007	0.03071	0.2505:0.4248:0.1015:0.2232	.	512	Q92545	TM131_HUMAN	I	512	ENSP00000186436:M512I	ENSP00000186436:M512I	M	-	3	0	TMEM131	97796947	0.940000	0.31905	1.000000	0.80357	0.991000	0.79684	0.035000	0.13797	0.810000	0.34279	-0.126000	0.14955	ATG	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329285.2		-	ENST00000186436.5	Missense_Mutation	SNP	2 : 98430515 - 98430515 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	70	7
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		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	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	GRCh37	CM941329	TP53	M							102	91	94			NA	NA	17		NA											NA				7578263		2203	4300	6503	SO:0001587	stop_gained	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.586C>T	17.37:g.7578263G>A	ENSP00000391127:p.Arg196*	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	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Nonsense_Mutation	SNP	17 : 7578263 - 7578263 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	318	27
TRPC3	7222	broad.mit.edu	37	4	122853995	122853995	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr4:122853995C>T	ENST00000264811.5	-	1	617	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	TRPC3_ENST00000379645.3_Missense_Mutation_p.V140I|TRPC3_ENST00000513531.1_Missense_Mutation_p.V67I	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	55					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACGCAGTTGACGTTCAGCGTC	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	58	59			NA	NA	4		NA											NA				122853995		2203	4300	6503	SO:0001583	missense			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741	7222	7222		Voltage-gated ion channels / Transient receptor potential cation channels	12335	protein-coding gene	gene with protein product		602345			NA	8646775, 16382100	Standard	NM_003305	NM_003305	NA	Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000264811.5:c.199G>A	4.37:g.122853995C>T	ENSP00000264811:p.Val67Ile	NA	O00593|Q15660|Q52M35	37	CCDS3725.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344029	0.61073	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;T	0.70631	-0.5;-0.5;-0.5;0.24	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	N	0.11698	0.16	0.48395	D	0.999648	B;P	0.39404	0.322;0.672	B;B	0.41466	0.131;0.358	T	0.55321	-0.8159	10	0.06236	T	0.91	-30.807	20.3932	0.98965	0.0:1.0:0.0:0.0	.	67;140	E9PCJ9;Q5G1L5	.;.	I	67;140;67;67	ENSP00000264811:V67I;ENSP00000368966:V140I;ENSP00000426899:V67I;ENSP00000422214:V67I	ENSP00000264811:V67I	V	-	1	0	TRPC3	123073445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.313000	0.51935	2.824000	0.97209	0.655000	0.94253	GTC	TRPC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256709.1		-	ENST00000264811.5	Missense_Mutation	SNP	4 : 122853995 - 122853995 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	277	7
TRPV6	55503	broad.mit.edu	37	7	142569526	142569526	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr7:142569526C>A	ENST00000359396.3	-	15	2357	c.2112G>T	c.(2110-2112)agG>agT	p.R704S		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	704	Interaction with calmodulin.				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCAGGTCTCTCCTCAGGGTCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	70	70			NA	NA	7		NA											NA				142569526		2203	4300	6503	SO:0001583	missense			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125	55503	55503		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	14006	protein-coding gene	gene with protein product		606680	epithelial calcium channel 2	ECAC2	NA	11097838, 11549322, 16382100, 16717058	Standard	NM_014274	NM_018646	NA	Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.2112G>T	7.37:g.142569526C>A	ENSP00000352358:p.Arg704Ser	NA	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340406	0.24339	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.76968	-1.06	5.3	1.03	0.20045	.	0.665359	0.16004	N	0.234172	T	0.61286	0.2335	L	0.36672	1.1	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.40831	-0.9542	10	0.18710	T	0.47	-7.6958	4.8576	0.13566	0.142:0.5057:0.2751:0.0771	.	704	Q9H1D0	TRPV6_HUMAN	S	704;536	ENSP00000352358:R704S	ENSP00000310825:R536S	R	-	3	2	TRPV6	142279648	0.000000	0.05858	0.000000	0.03702	0.654000	0.38779	0.010000	0.13242	0.183000	0.20059	0.561000	0.74099	AGG	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347662.1		-	ENST00000359396.3	Missense_Mutation	SNP	7 : 142569526 - 142569526 A PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	512	34
UBASH3A	53347	broad.mit.edu	37	21	43838614	43838614	+	Silent	SNP	C	C	T	rs147873921		TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr21:43838614C>T	ENST00000319294.6	+	7	973	c.942C>T	c.(940-942)agC>agT	p.S314S	UBASH3A_ENST00000398367.1_Silent_p.S276S|UBASH3A_ENST00000291535.6_Silent_p.S276S	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	314	SH3.					cytosol|nucleus		p.S314R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGAAGCCAGCGAGGGCTGGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	71	71	71		828,942	-1.1	1	21	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	UBASH3A	NM_001001895.2,NM_018961.3	,	0,1,6502	TT,TC,CC	NA	0.0,0.0227,0.0077	,	276/624,314/662	43838614	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185	53347	53347			12462	protein-coding gene	gene with protein product		605736			NA	11281453	Standard	NM_001001895	NM_018961	NA	Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.942C>T	21.37:g.43838614C>T		NA	Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	37	CCDS13687.1																																																																																			UBASH3A-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195382.1		+	ENST00000319294.6	Silent	SNP	21 : 43838614 - 43838614 T PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	350	18
UGGT2	55757	broad.mit.edu	37	13	96592266	96592266	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7645-01A-22D-2201-08	TCGA-IB-7645-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	4b74b488-3cd3-4671-96b6-80e55d4f6d42	ff33181b-4653-4048-b933-5153a016c9c5	g.chr13:96592266T>C	ENST00000376747.3	-	16	1827	c.1757A>G	c.(1756-1758)cAt>cGt	p.H586R		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	586					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AATATTAGCATGAGGAAATGT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	113	114			NA	NA	13		NA											NA				96592266		2202	4300	6502	SO:0001583	missense			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595	55757	55757			15664	protein-coding gene	gene with protein product	UDP-glucose:glycoprotein glucosyltransferase 2	605898	UDP-glucose ceramide glucosyltransferase-like 2	UGCGL2	NA	10694380	Standard	NM_020121	NM_020121	NA	Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1757A>G	13.37:g.96592266T>C	ENSP00000365938:p.His586Arg	NA	Q08AD0|Q5JQR8|Q9UFC4	37	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011877	0.35511	.	.	ENSG00000102595	ENST00000376747	T	0.29917	1.55	5.64	4.45	0.53987	.	0.380232	0.32671	N	0.005790	T	0.26448	0.0646	L	0.48362	1.52	0.80722	D	1	B	0.14012	0.009	B	0.17098	0.017	T	0.04333	-1.0959	10	0.21014	T	0.42	-3.9518	11.5681	0.50818	0.0:0.0702:0.0:0.9298	.	586	Q9NYU1	UGGG2_HUMAN	R	586	ENSP00000365938:H586R	ENSP00000365938:H586R	H	-	2	0	UGGT2	95390267	1.000000	0.71417	0.970000	0.41538	0.974000	0.67602	3.189000	0.50965	0.960000	0.38005	0.459000	0.35465	CAT	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045507.1		-	ENST00000376747.3	Missense_Mutation	SNP	13 : 96592266 - 96592266 C PAAD-TCGA-IB-7645-Tumor-SM-2RBKA	816	116
