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
ABCA1	19	broad.mit.edu	37	9	107620844	107620844	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:107620844G>A	ENST00000374736.3	-	7	1073	c.679C>T	c.(679-681)Cga>Tga	p.R227*	ABCA1_ENST00000423487.2_Nonsense_Mutation_p.R227*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	227					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CGAAGTACTCGCTCTGCTGCA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	160	161			NA	NA	9		NA											NA				107620844		2203	4300	6503	SO:0001587	stop_gained			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029	19	19		ATP binding cassette transporters / subfamily A	29	protein-coding gene	gene with protein product	Tangier disease	600046		ABC1, HDLDT1	NA	8088782, 10431236, 10431237, 10431238	Standard	NM_005502	NM_005502	NA	Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.679C>T	9.37:g.107620844G>A	ENSP00000363868:p.Arg227*	NA	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915688	0.92178	.	.	ENSG00000165029	ENST00000374736;ENST00000423487	.	.	.	6.17	3.26	0.37387	.	1.116260	0.06418	N	0.721847	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	8.0132	0.30365	0.0726:0.0:0.5413:0.3861	.	.	.	.	X	227	.	ENSP00000363868:R227X	R	-	1	2	ABCA1	106660665	0.015000	0.18098	0.018000	0.16275	0.002000	0.02628	0.895000	0.28363	0.924000	0.37069	0.655000	0.94253	CGA	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053491.1		-	ENST00000374736.3	Nonsense_Mutation	SNP	9 : 107620844 - 107620844 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	482	96
ADAMTS20	80070	broad.mit.edu	37	12	43860592	43860592	+	Silent	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:43860592A>G	ENST00000389420.3	-	9	1229	c.1230T>C	c.(1228-1230)ggT>ggC	p.G410G	ADAMTS20_ENST00000553158.1_Silent_p.G410G	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	410	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATGTTGAACACCAAGTCTAA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	83	82			NA	NA	12		NA											NA				43860592		2202	4299	6501	SO:0001819	synonymous_variant			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157	80070	80070		ADAM metallopeptidases with thrombospondin type 1 motif	17178	protein-coding gene	gene with protein product		611681	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20		NA	12514189, 12562771	Standard	NM_025003	NM_025003	NA	Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1230T>C	12.37:g.43860592A>G		NA	A6NNC9	37	CCDS31778.2																																																																																			ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403643.1		-	ENST00000389420.3	Silent	SNP	12 : 43860592 - 43860592 G PAAD-TCGA-RB-A7B8-Tumor-SM-54377	242	23
AKAP12	9590	broad.mit.edu	37	6	151671678	151671678	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:151671678G>A	ENST00000253332.1	+	3	2341	c.2152G>A	c.(2152-2154)Gga>Aga	p.G718R	AKAP12_ENST00000402676.2_Missense_Mutation_p.G718R|AKAP12_ENST00000354675.6_Missense_Mutation_p.G620R|AKAP12_ENST00000359755.5_Missense_Mutation_p.G613R			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	718					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGATGAGGCCGGAAAAGACAA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(141;1616 1805 10049 24534 51979)							NA				0													98	108	105			NA	NA	6		NA											NA				151671678		2203	4300	6503	SO:0001583	missense			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016	9590	9590		A-kinase anchor proteins	370	protein-coding gene	gene with protein product	gravin, Src-Suppressed C Kinase Substrate	604698	A kinase (PRKA) anchor protein (gravin) 12		NA	9000000	Standard		NM_144497	NA	Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2152G>A	6.37:g.151671678G>A	ENSP00000253332:p.Gly718Arg	NA	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573780	0.45902	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	5.52	4.64	0.57946	.	0.395578	0.18765	N	0.131771	T	0.12135	0.0295	M	0.70595	2.14	0.23845	N	0.996688	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68621	0.959;0.959;0.91	T	0.15549	-1.0433	10	0.16420	T	0.52	.	13.4509	0.61169	0.076:0.0:0.924:0.0	.	613;620;718	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	R	718;718;620;613	ENSP00000384537:G718R;ENSP00000253332:G718R;ENSP00000346702:G620R;ENSP00000352794:G613R	ENSP00000253332:G718R	G	+	1	0	AKAP12	151713371	0.995000	0.38212	0.005000	0.12908	0.034000	0.12701	5.006000	0.63978	1.305000	0.44909	0.655000	0.94253	GGA	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042712.1		+	ENST00000253332.1	Missense_Mutation	SNP	6 : 151671678 - 151671678 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	739	5
ALOX15B	247	broad.mit.edu	37	17	7948584	7948584	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:7948584G>A	ENST00000572022.1	+	7	1000	c.878G>A	c.(877-879)gGc>gAc	p.G293D	ALOX15B_ENST00000380183.4_Missense_Mutation_p.G293D|ALOX15B_ENST00000573359.1_Missense_Mutation_p.G293D|ALOX15B_ENST00000380173.2_Missense_Mutation_p.G293D			O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	293	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GTGGATCACGGCATCCTCTCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	92	91			NA	NA	17		NA											NA				7948584		2203	4300	6503	SO:0001583	missense			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	247	247	1.13.11.33	Arachidonate lipoxygenases	434	protein-coding gene	gene with protein product		603697	arachidonate 15-lipoxygenase, second type		NA	9177185	Standard		NM_001039130	NA	Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000572022.1:c.878G>A	17.37:g.7948584G>A	ENSP00000458749:p.Gly293Asp	NA	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	37		.	.	.	.	.	.	.	.	.	.	G	7.544	0.661307	0.14645	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	D;D	0.89617	-2.54;-2.54	4.09	-0.69	0.11309	Lipoxygenase, C-terminal (3);	0.404263	0.26700	N	0.022951	T	0.74943	0.3783	L	0.31926	0.97	0.09310	N	1	B;B;B;B	0.10296	0.003;0.002;0.002;0.003	B;B;B;B	0.12837	0.008;0.005;0.005;0.008	T	0.55283	-0.8165	10	0.15499	T	0.54	-6.6648	0.4088	0.00437	0.2487:0.1455:0.3088:0.297	.	293;293;293;293	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	D	293	ENSP00000369520:G293D;ENSP00000369530:G293D	ENSP00000344337:G293D	G	+	2	0	ALOX15B	7889309	0.108000	0.22018	0.015000	0.15790	0.466000	0.32739	3.128000	0.50492	-0.297000	0.08934	0.467000	0.42956	GGC	ALOX15B-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000441172.1		+	ENST00000572022.1	Missense_Mutation	SNP	17 : 7948584 - 7948584 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	631	5
ALX3	257	broad.mit.edu	37	1	110607330	110607330	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:110607330G>A	ENST00000369792.4	-	2	560	c.473C>T	c.(472-474)aCg>aTg	p.T158M		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTGAAGGTCGTGCGGTTACG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	108	109			NA	NA	1		NA											NA				110607330		2203	4300	6503	SO:0001583	missense			AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150	257	257		Homeoboxes / PRD class	449	protein-coding gene	gene with protein product		606014	aristaless-like homeobox 3, frontonasal dysplasia	FND	NA	15226305, 11807986, 19409524	Standard	NM_006492	NM_006492	NA	Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.473C>T	1.37:g.110607330G>A	ENSP00000358807:p.Thr158Met	NA	O95075|Q5T8M4	37	CCDS819.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087698	0.76642	.	.	ENSG00000156150	ENST00000369792	D	0.97352	-4.35	4.18	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.98960	0.9646	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99316	1.0905	10	0.87932	D	0	.	14.3494	0.66691	0.0:0.0:1.0:0.0	.	158	O95076	ALX3_HUMAN	M	158	ENSP00000358807:T158M	ENSP00000358807:T158M	T	-	2	0	ALX3	110408853	1.000000	0.71417	0.907000	0.35723	0.987000	0.75469	9.813000	0.99286	2.022000	0.59522	0.462000	0.41574	ACG	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032232.2		-	ENST00000369792.4	Missense_Mutation	SNP	1 : 110607330 - 110607330 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	384	115
ANKS1A	23294	broad.mit.edu	37	6	34985688	34985688	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:34985688G>A	ENST00000360359.3	+	11	2000	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	621						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACTCAGCCGCAGCTTGTCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													129	146	140			NA	NA	6		NA											NA				34985688		2203	4300	6503	SO:0001583	missense			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999	23294	23294		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	20961	protein-coding gene	gene with protein product		608994	ankyrin repeat and SAM domain containing 1, ankyrin repeat and sterile alpha motif domain containing 1	ANKS1	NA	9039502	Standard	XM_166478	NM_015245	NA	Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1862G>A	6.37:g.34985688G>A	ENSP00000353518:p.Arg621His	NA	A2RUC1|Q5JYI9|Q5SYR2|Q86WQ7	37	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388694	0.82902	.	.	ENSG00000064999	ENST00000360359	T	0.46819	0.86	5.41	5.41	0.78517	.	0.000000	0.50627	D	0.000117	T	0.61640	0.2363	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.63314	-0.6665	10	0.72032	D	0.01	-18.3484	19.5669	0.95397	0.0:0.0:1.0:0.0	.	621	Q92625	ANS1A_HUMAN	H	621	ENSP00000353518:R621H	ENSP00000353518:R621H	R	+	2	0	ANKS1A	35093666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.374000	0.97172	2.694000	0.91930	0.655000	0.94253	CGC	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040262.1		+	ENST00000360359.3	Missense_Mutation	SNP	6 : 34985688 - 34985688 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1022	9
ANXA1	301	broad.mit.edu	37	9	75775738	75775738	+	Missense_Mutation	SNP	A	A	T	rs111698970		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:75775738A>T	ENST00000376911.1	+	5	1286	c.404A>T	c.(403-405)gAt>gTt	p.D135V	ANXA1_ENST00000257497.6_Missense_Mutation_p.D135V			P04083	ANXA1_HUMAN	annexin A1	135					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ACTGATGAAGATACTCTAATT	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	164	161			NA	NA	9		NA											NA				75775738		2203	4299	6502	SO:0001583	missense			X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046	301	301		Annexins, Endogenous ligands	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1	NA	2936963	Standard	NM_000700	NM_000700	NA	Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.404A>T	9.37:g.75775738A>T	ENSP00000366109:p.Asp135Val	NA		37	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.544955	0.86022	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000376911	T;T;T	0.03689	3.84;3.84;3.84	5.86	5.86	0.93980	Annexin repeat, conserved site (1);	0.087076	0.85682	D	0.000000	T	0.17323	0.0416	M	0.72353	2.195	0.80722	D	1	D	0.53885	0.963	D	0.69824	0.966	T	0.00150	-1.1986	10	0.44086	T	0.13	.	16.2565	0.82519	1.0:0.0:0.0:0.0	.	135	P04083	ANXA1_HUMAN	V	135;146;135	ENSP00000257497:D135V;ENSP00000412489:D146V;ENSP00000366109:D135V	ENSP00000257497:D135V	D	+	2	0	ANXA1	74965558	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	8.466000	0.90387	2.235000	0.73313	0.533000	0.62120	GAT	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052665.1		+	ENST00000376911.1	Missense_Mutation	SNP	9 : 75775738 - 75775738 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	882	157
AQP10	89872	broad.mit.edu	37	1	154295786	154295786	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:154295786C>T	ENST00000484864.1	+	4	476	c.440C>T	c.(439-441)gCc>gTc	p.A147V	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.A147V			Q96PS8	AQP10_HUMAN	aquaporin 10	147					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCATTTTTGCCACCTATCCT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	116	116			NA	NA	1		NA											NA				154295786		2203	4300	6503	SO:0001583	missense			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595	89872	89872		Ion channels / Aquaporins	16029	protein-coding gene	gene with protein product		606578			NA	11573934	Standard	NM_080429	NM_080429	NA	Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000484864.1:c.440C>T	1.37:g.154295786C>T	ENSP00000420341:p.Ala147Val	NA	Q5VYD3|Q5VYD4|Q8NG70	37		.	.	.	.	.	.	.	.	.	.	C	24.0	4.484892	0.84854	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.11930	2.73;2.73	5.04	4.12	0.48240	Aquaporin-like (2);	0.332186	0.32503	N	0.006010	T	0.19406	0.0466	M	0.83312	2.635	0.33617	D	0.604262	D;P	0.54047	0.964;0.912	P;P	0.56127	0.792;0.756	T	0.08722	-1.0708	10	0.87932	D	0	.	8.5573	0.33489	0.0:0.7645:0.1526:0.0828	.	147;147	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	V	147	ENSP00000318355:A147V;ENSP00000420341:A147V	ENSP00000318355:A147V	A	+	2	0	AQP10	152562410	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.810000	0.55613	1.364000	0.46038	0.555000	0.69702	GCC	AQP10-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000087660.1		+	ENST00000484864.1	Missense_Mutation	SNP	1 : 154295786 - 154295786 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	750	7
ARMCX3	51566	broad.mit.edu	37	X	100880318	100880318	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:100880318G>A	ENST00000341189.4	+	5	1215	c.349G>A	c.(349-351)Gtt>Att	p.V117I	ARMCX3_ENST00000537169.1_Missense_Mutation_p.V117I|ARMCX3_ENST00000471229.2_Missense_Mutation_p.V117I	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	117						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						AGATGATACCGTTTTGTCCCC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	58	61			NA	NA	X		NA											NA				100880318		2200	4295	6495	SO:0001583	missense			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401	51566	51566		Armadillo repeat containing	24065	protein-coding gene	gene with protein product		300364			NA	11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607	NM_016607	NA	Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.349G>A	X.37:g.100880318G>A	ENSP00000340672:p.Val117Ile	NA	Q53HC6|Q7LCF5|Q9NPE4	37	CCDS14489.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.915094	0.00503	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.28895	1.59;1.59	4.08	-5.45	0.02616	Armadillo-like helical (1);	0.708561	0.13313	N	0.397312	T	0.09113	0.0225	N	0.01640	-0.785	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.35748	-0.9776	9	.	.	.	-2.6702	12.8785	0.58003	0.2698:0.0:0.7302:0.0	.	117	Q9UH62	ARMX3_HUMAN	I	117	ENSP00000340672:V117I;ENSP00000439032:V117I	.	V	+	1	0	ARMCX3	100766974	0.031000	0.19500	0.318000	0.25279	0.907000	0.53573	-0.504000	0.06375	-1.484000	0.01856	-2.493000	0.00193	GTT	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057568.2		+	ENST00000341189.4	Missense_Mutation	SNP	X : 100880318 - 100880318 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	462	40
ASCC3	10973	broad.mit.edu	37	6	101073182	101073182	+	Silent	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:101073182A>G	ENST00000369162.2	-	30	5015	c.4671T>C	c.(4669-4671)ccT>ccC	p.P1557P		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1557	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATATCAAAACAGGTTTGGCTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	84	84			NA	NA	6		NA											NA				101073182		2203	4300	6503	SO:0001819	synonymous_variant			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249	10973	10973			18697	protein-coding gene	gene with protein product	RNA helicase family	614217	helicase, ATP binding 1	HELIC1	NA	10218103	Standard	NM_006828	NM_006828	NA	Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4671T>C	6.37:g.101073182A>G		NA	O43738|Q5VTN2|Q9H1I9|Q9NTR0	37	CCDS5046.1																																																																																			ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041632.2		-	ENST00000369162.2	Silent	SNP	6 : 101073182 - 101073182 G PAAD-TCGA-RB-A7B8-Tumor-SM-54377	353	14
ATP2A2	488	broad.mit.edu	37	12	110778541	110778541	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:110778541C>T	ENST00000308664.6	+	14	2513	c.1839C>T	c.(1837-1839)tgC>tgT	p.C613C	ATP2A2_ENST00000395494.2_Silent_p.C586C|ATP2A2_ENST00000539276.2_Silent_p.C613C	NM_001681.3|NM_170665.3	NP_001672.1|NP_733765.1	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	613					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGAAGCTGTGCCGGCAAGCAG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM014166	ATP2A2	M							97	95	96			NA	NA	12		NA											NA				110778541		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	488	488	3.6.3.8	ATPases / P-type	812	protein-coding gene	gene with protein product	sarcoplasmic/endoplasmic reticulum calcium ATPase 2, calcium pump 2	108740		ATP2B, DAR	NA	10080178	Standard	NM_001681	NM_170665	NA	Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000308664.6:c.1839C>T	12.37:g.110778541C>T		NA	A6NDN7|B4DF05|P16614|Q86VJ2	37	CCDS9143.1	.	.	.	.	.	.	.	.	.	.	C	9.993	1.231362	0.22626	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.93	-0.83	0.10792	.	.	.	.	.	T	0.63954	0.2555	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61178	-0.7115	4	.	.	.	.	12.8976	0.58108	0.0:0.5245:0.0:0.4755	.	.	.	.	S	504	.	.	P	+	1	0	ATP2A2	109262924	0.928000	0.31464	0.994000	0.49952	0.973000	0.67179	0.080000	0.14802	-0.056000	0.13221	-0.126000	0.14955	CCG	ATP2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403537.1		+	ENST00000308664.6	Silent	SNP	12 : 110778541 - 110778541 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	553	5
ATRAID	51374	broad.mit.edu	37	2	27438520	27438520	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:27438520A>C	ENST00000380171.3	+	5	728	c.551A>C	c.(550-552)aAc>aCc	p.N184T	ATRAID_ENST00000405489.3_Missense_Mutation_p.N71T|ATRAID_ENST00000606999.1_Missense_Mutation_p.N129T	NM_080592.3	NP_542159.3			all-trans retinoic acid-induced differentiation factor	NA											NA						CAACATGTCAACTGTCCTGGA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	138	139			NA	NA	2		NA											NA				27438520		2203	4300	6503	SO:0001583	missense			BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085	51374	51374			24090	protein-coding gene	gene with protein product	apoptosis-related protein 3		chromosome 2 open reading frame 28	C2orf28	NA	17524364, 21723284	Standard	NM_016085	NM_016085	NA	Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000380171.3:c.551A>C	2.37:g.27438520A>C	ENSP00000369518:p.Asn184Thr	NA		37	CCDS1741.1	.	.	.	.	.	.	.	.	.	.	a	0.850	-0.738915	0.03088	.	.	ENSG00000138085	ENST00000380171;ENST00000405489;ENST00000419744	T;T	0.46451	0.87;0.92	5.49	-11.0	0.00169	.	1.608160	0.02821	N	0.125596	T	0.23054	0.0557	N	0.19112	0.55	0.09310	N	1	B;B	0.17667	0.0;0.023	B;B	0.12837	0.002;0.008	T	0.09640	-1.0665	10	0.27785	T	0.31	-22.0169	8.6324	0.33928	0.6745:0.078:0.1695:0.078	.	129;184	Q6UW56;Q6UW56-3	APR3_HUMAN;.	T	184;71;71	ENSP00000369518:N184T;ENSP00000384033:N71T	ENSP00000369518:N184T	N	+	2	0	C2orf28	27292024	0.000000	0.05858	0.001000	0.08648	0.320000	0.28249	-1.569000	0.02142	-3.391000	0.00173	-1.176000	0.01726	AAC	ATRAID-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250185.2		+	ENST00000380171.3	Missense_Mutation	SNP	2 : 27438520 - 27438520 C PAAD-TCGA-RB-A7B8-Tumor-SM-54377	683	9
C16orf93	90835	broad.mit.edu	37	16	30768893	30768893	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:30768893C>T	ENST00000543610.1	-	9	1861	c.900G>A	c.(898-900)cgG>cgA	p.R300R	PHKG2_ENST00000563588.1_3'UTR|C16orf93_ENST00000541260.1_Silent_p.R365R|PHKG2_ENST00000424889.3_Intron	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	300										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TGGCCTTGAGCCGCTCCTCCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	89	90			NA	NA	16		NA											NA				30768893		2197	4300	6497	SO:0001819	synonymous_variant			BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118	90835	90835			28078	protein-coding gene	gene with protein product					NA		Standard	NM_001014979	NM_001195620	NA	Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.900G>A	16.37:g.30768893C>T		NA	A1A4V8|Q569G2	37	CCDS32434.2	.	.	.	.	.	.	.	.	.	.	C	4.971	0.180321	0.09443	.	.	ENSG00000196118	ENST00000535476	.	.	.	5.97	2.97	0.34412	.	.	.	.	.	T	0.54447	0.1859	.	.	.	0.53688	D	0.999971	.	.	.	.	.	.	T	0.45071	-0.9286	4	.	.	.	-7.5983	6.1942	0.20540	0.0:0.6832:0.1532:0.1635	.	.	.	.	D	167	.	.	G	-	2	0	C16orf93	30676394	0.922000	0.31269	0.134000	0.22075	0.562000	0.35680	0.541000	0.23207	0.421000	0.25980	0.655000	0.94253	GGC	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397089.1		-	ENST00000543610.1	Silent	SNP	16 : 30768893 - 30768893 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	687	5
C1QTNF9B	387911	broad.mit.edu	37	13	24465897	24465897	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:24465897C>T	ENST00000382140.2	-	5	593	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382137.3_Missense_Mutation_p.R178Q|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	178	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TCTTATTCCCCGGACTCCTGG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													32	41	38			NA	NA	13		NA											NA				24465897		2201	4297	6498	SO:0001583	missense			BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863	387911	387911			34072	protein-coding gene	gene with protein product		614148			NA	17544811	Standard	NM_001007537	NM_001007537	NA	Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.533G>A	13.37:g.24465897C>T	ENSP00000371575:p.Arg178Gln	NA	A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	37	CCDS31947.1	.	.	.	.	.	.	.	.	.	.	c	13.47	2.246859	0.39697	.	.	ENSG00000205863	ENST00000382137;ENST00000382140	D;D	0.96136	-3.92;-3.92	4.26	3.24	0.37175	.	0.122397	0.64402	D	0.000018	D	0.89336	0.6686	L	0.48362	1.52	0.80722	D	1	B	0.29037	0.231	B	0.15484	0.013	T	0.83168	-0.0095	10	0.23302	T	0.38	.	2.9984	0.06005	0.0:0.5062:0.0:0.4938	.	178	B2RNN3	C1T9B_HUMAN	Q	178	ENSP00000371572:R178Q;ENSP00000371575:R178Q	ENSP00000371572:R178Q	R	-	2	0	C1QTNF9B	23363897	0.846000	0.29590	0.928000	0.36995	0.984000	0.73092	1.463000	0.35277	1.950000	0.56595	0.456000	0.33151	CGG	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044162.3		-	ENST00000382140.2	Missense_Mutation	SNP	13 : 24465897 - 24465897 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	305	6
CACNA1D	776	broad.mit.edu	37	3	53769492	53769492	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:53769492G>A	ENST00000422281.2	+	20	2713	c.2713G>A	c.(2713-2715)Gca>Aca	p.A905T	CACNA1D_ENST00000350061.5_Missense_Mutation_p.A905T|CACNA1D_ENST00000288139.4_Missense_Mutation_p.A925T	NM_001128839.1	NP_001122311.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	905					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGCCCTGGCCGCAGAGGACCC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	71	76			NA	NA	3		NA											NA				53769492		2203	4300	6503	SO:0001583	missense			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388	776	776		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2	NA	1664412	Standard	NM_000720	NM_000720	NA	Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000422281.2:c.2713G>A	3.37:g.53769492G>A	ENSP00000409174:p.Ala905Thr	NA	Q13916|Q13931|Q9UDC3	37	CCDS46849.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595482	0.66219	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.46	4.58	0.56647	.	0.066144	0.64402	N	0.000015	D	0.98601	0.9532	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;1.0;0.972	D;P;D;P	0.79108	0.988;0.659;0.992;0.816	D	0.99655	1.0992	10	0.87932	D	0	.	16.7269	0.85424	0.0:0.1292:0.8708:0.0	.	905;598;905;925	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	T	905;925;905;598	ENSP00000288133:A905T;ENSP00000288139:A925T;ENSP00000409174:A905T;ENSP00000418014:A598T	ENSP00000288139:A925T	A	+	1	0	CACNA1D	53744532	1.000000	0.71417	0.106000	0.21319	0.197000	0.23852	7.906000	0.87423	1.407000	0.46875	0.555000	0.69702	GCA	CACNA1D-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350556.1		+	ENST00000422281.2	Missense_Mutation	SNP	3 : 53769492 - 53769492 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	456	5
CACNA1E	777	broad.mit.edu	37	1	181690939	181690939	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:181690939C>T	ENST00000526775.1	+	16	2167	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R275C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R668C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R668C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R619C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R668C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R619C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	668					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R668C(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAATGGGATCCGCTCCCAGGG	0.507		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)											206	209	208			NA	NA	1		NA											NA				181690939		2041	4204	6245	SO:0001583	missense			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216	777	777		Calcium channel subunits, Voltage-gated ion channels / Calcium channels, EF-hand domain containing	1392	protein-coding gene	gene with protein product		601013		CACNL1A6	NA	8388125, 16382099	Standard	NM_000721	NM_001205293	NA	Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000526775.1:c.2002C>T	1.37:g.181690939C>T	ENSP00000434814:p.Arg668Cys	NA	B1AM12|B1AM13|B1AM14|Q14580|Q14581	37	CCDS55665.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535986	0.85812	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38;-4.38;-4.38	5.33	5.33	0.75918	.	0.048724	0.85682	N	0.000000	D	0.98413	0.9472	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	D	0.99482	1.0948	10	0.72032	D	0.01	.	18.6084	0.91275	0.0:1.0:0.0:0.0	.	668;668	Q15878-2;Q15878-3	.;.	C	668;668;619;619;275;668;668	ENSP00000356542:R668C;ENSP00000434814:R668C;ENSP00000350183:R619C;ENSP00000351101:R619C;ENSP00000356539:R275C;ENSP00000353222:R668C;ENSP00000356545:R668C	ENSP00000350183:R619C	R	+	1	0	CACNA1E	179957562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.705000	0.61838	2.465000	0.83290	0.563000	0.77884	CGC	CACNA1E-002	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090792.2		+	ENST00000526775.1	Missense_Mutation	SNP	1 : 181690939 - 181690939 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1019	182
CACNG2	10369	broad.mit.edu	37	22	36960745	36960745	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:36960745G>A	ENST00000300105.6	-	4	1606	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	209					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GCCGTGGCCCGCAGCTGTTTG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	102	96			NA	NA	22		NA											NA				36960745		2203	4300	6503	SO:0001583	missense			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862	10369	10369		Calcium channel subunits	1406	protein-coding gene	gene with protein product		602911			NA		Standard		NM_006078	NA	Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.625C>T	22.37:g.36960745G>A	ENSP00000300105:p.Arg209Trp	NA	Q2M1M1|Q5TGT3|Q9UGZ7	37	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119367	0.77323	.	.	ENSG00000166862	ENST00000300105	T	0.40756	1.02	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.66590	-0.5885	10	0.66056	D	0.02	-7.8981	14.4754	0.67541	0.0:0.0:0.8529:0.1471	.	209	Q9Y698	CCG2_HUMAN	W	209	ENSP00000300105:R209W	ENSP00000300105:R209W	R	-	1	2	CACNG2	35290691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.656000	0.90262	0.655000	0.94253	CGG	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075500.2		-	ENST00000300105.6	Missense_Mutation	SNP	22 : 36960745 - 36960745 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1610	77
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873	445571	445571			18519	protein-coding gene	gene with protein product		611080			NA	15233989, 12421752	Standard	NM_201453	XM_005277637	NA	Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T		NA		37	CCDS35038.1																																																																																			CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052526.1		+	ENST00000360171.6	Silent	SNP	9 : 70871889 - 70871889 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	643	6
CCDC88B	283234	broad.mit.edu	37	11	64120219	64120219	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:64120219C>T	ENST00000356786.5	+	20	3404	c.3360C>T	c.(3358-3360)caC>caT	p.H1120H	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Silent_p.H272H	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1120					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.H1120H(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCCAGGCACGAGCAGCTGC	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											27	31	30			NA	NA	11		NA											NA				64120219		2201	4286	6487	SO:0001819	synonymous_variant			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071	283234	283234			26757	protein-coding gene	gene with protein product	brain leucine zipper protein, GRP78-interacting protein induced by ER stress	611205	coiled-coil domain containing 88	CCDC88	NA	15882442, 21289099	Standard	NM_032251	NM_032251	NA	Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3360C>T	11.37:g.64120219C>T		NA	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	37	CCDS8072.2																																																																																			CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104845.1		+	ENST00000356786.5	Silent	SNP	11 : 64120219 - 64120219 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	313	41
CCDC88C	440193	broad.mit.edu	37	14	91760540	91760540	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:91760540G>A	ENST00000389857.6	-	23	4175	c.4089C>T	c.(4087-4089)taC>taT	p.Y1363Y		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1363					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTCCTCATGGTACTGCTCCT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													258	272	267			NA	NA	14		NA											NA				91760540		2139	4251	6390	SO:0001819	synonymous_variant				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133	440193	440193			19967	protein-coding gene	gene with protein product	Dvl-associating protein with a high frequency of leucine residues, spinocerebellar ataxia 40	611204	KIAA1509	KIAA1509	NA	17185515, 25062847	Standard	XM_029353	NM_001080414	NA	Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4089C>T	14.37:g.91760540G>A		NA	Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	37	CCDS45151.1																																																																																			CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411650.1		-	ENST00000389857.6	Silent	SNP	14 : 91760540 - 91760540 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1044	179
CCNA1	8900	broad.mit.edu	37	13	37007204	37007204	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:37007204G>A	ENST00000255465.4	+	2	407	c.143G>A	c.(142-144)aGc>aAc	p.S48N	CCNA1_ENST00000418263.1_Missense_Mutation_p.S47N|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000440264.1_Missense_Mutation_p.S4N|CCNA1_ENST00000449823.1_Missense_Mutation_p.S4N			P78396	CCNA1_HUMAN	cyclin A1	48					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ATGCACTGCAGCAACCCCAAG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	115	115			NA	NA	13		NA											NA				37007204		2203	4300	6503	SO:0001583	missense			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101	8900	8900			1577	protein-coding gene	gene with protein product		604036			NA	9041194	Standard	NM_003914	NM_003914	NA	Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.143G>A	13.37:g.37007204G>A	ENSP00000255465:p.Ser48Asn	NA	Q5T3V0|Q5U0G2|Q8IY91	37	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311316	0.40895	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.17370	2.43;2.43;2.28;2.29	4.63	2.86	0.33363	.	0.954771	0.08588	N	0.923463	T	0.18173	0.0436	L	0.54323	1.7	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.002	T	0.27839	-1.0062	10	0.40728	T	0.16	.	7.931	0.29901	0.1899:0.0:0.8101:0.0	.	47;48	P78396-2;P78396	.;CCNA1_HUMAN	N	4;4;47;48	ENSP00000400666:S4N;ENSP00000409873:S4N;ENSP00000396479:S47N;ENSP00000255465:S48N	ENSP00000255465:S48N	S	+	2	0	CCNA1	35905204	0.291000	0.24352	0.014000	0.15608	0.121000	0.20230	0.587000	0.23909	0.466000	0.27193	0.555000	0.69702	AGC	CCNA1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044514.2		+	ENST00000255465.4	Missense_Mutation	SNP	13 : 37007204 - 37007204 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	516	11
CD163L1	283316	broad.mit.edu	37	12	7559219	7559219	+	Silent	SNP	G	G	A	rs143012538		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:7559219G>A	ENST00000416109.2	-	5	1044	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	CD163L1_ENST00000396630.1_Silent_p.S332S|CD163L1_ENST00000313599.3_Silent_p.S332S	NM_174941.4	NP_777601.2	Q9NR16	C163B_HUMAN	CD163 molecule-like 1	332	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTCATTACCGGAGCAGGAGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	178	144	156		996	-3.5	0	12	dbSNP_134	156	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CD163L1	NM_174941.4		0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154		332/1454	7559219	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675	283316	283316			30375	protein-coding gene	gene with protein product		606079	CD163 antigen-like 1		NA	11124526, 11086079	Standard	NM_174941	XM_005253348	NA	Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000416109.2:c.1026C>T	12.37:g.7559219G>A		NA	C9JHR7|Q6UWC2	37																																																																																				CD163L1-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399330.1		-	ENST00000416109.2	Silent	SNP	12 : 7559219 - 7559219 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	436	6
CDH2	1000	broad.mit.edu	37	18	25572669	25572669	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr18:25572669C>T	ENST00000399380.3	-	8	1237	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	CDH2_ENST00000269141.3_Missense_Mutation_p.A432T			P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	432	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTCTGGATGGCGAACCGTCCA	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	154	169			NA	NA	18		NA											NA				25572669		2203	4300	6503	SO:0001583	missense			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558	1000	1000		CD molecules, Cadherins / Major cadherins	1759	protein-coding gene	gene with protein product	N-cadherin	114020		NCAD	NA	2384753, 7731968, 2216790	Standard	NM_001792	NM_001792	NA	Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000399380.3:c.1201G>A	18.37:g.25572669C>T	ENSP00000382312:p.Ala401Thr	NA	B0YIY6|Q14923|Q8N173	37		.	.	.	.	.	.	.	.	.	.	C	3.023	-0.201263	0.06219	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.49139	0.79;0.79	5.39	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.160521	0.56097	D	0.000022	T	0.25975	0.0633	N	0.13140	0.3	0.46222	D	0.998936	B;B	0.13594	0.001;0.008	B;B	0.11329	0.003;0.006	T	0.09122	-1.0689	10	0.08381	T	0.77	.	10.1311	0.42680	0.0:0.8447:0.0:0.1553	.	401;432	A8MWK3;P19022	.;CADH2_HUMAN	T	432;401	ENSP00000269141:A432T;ENSP00000382312:A401T	ENSP00000269141:A432T	A	-	1	0	CDH2	23826667	1.000000	0.71417	0.993000	0.49108	0.455000	0.32408	3.907000	0.56348	2.674000	0.91012	0.655000	0.94253	GCC	CDH2-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000139363.3		-	ENST00000399380.3	Missense_Mutation	SNP	18 : 25572669 - 25572669 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	448	70
CHD7	55636	broad.mit.edu	37	8	61654852	61654852	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:61654852G>A	ENST00000423902.2	+	2	1340	c.861G>A	c.(859-861)ccG>ccA	p.P287P	CHD7_ENST00000524602.1_Silent_p.P287P|CHD7_ENST00000525508.1_Silent_p.P287P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	287					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.P287P(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTGTTAGGCCGCAAACCCTTA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	lung(2)											96	96	96			NA	NA	8		NA											NA				61654852		1909	4121	6030	SO:0001819	synonymous_variant			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316	55636	55636			20626	protein-coding gene	gene with protein product		608892	CHARGE association	CRG	NA	15300250, 18834967	Standard	XM_098762	NM_017780	NA	Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.861G>A	8.37:g.61654852G>A		NA	Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	37	CCDS47865.1																																																																																			CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383468.2		+	ENST00000423902.2	Silent	SNP	8 : 61654852 - 61654852 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	748	7
CKAP2L	150468	broad.mit.edu	37	2	113514269	113514269	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:113514269A>C	ENST00000302450.6	-	4	757	c.679T>G	c.(679-681)Ttg>Gtg	p.L227V	CKAP2L_ENST00000541405.1_Missense_Mutation_p.L62V	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	227						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTTTGCCCAAGGCTTGTTTA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	114	113			NA	NA	2		NA											NA				113514269		2203	4300	6503	SO:0001583	missense			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607	150468	150468			26877	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152515	NM_152515	NA	Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.679T>G	2.37:g.113514269A>C	ENSP00000305204:p.Leu227Val	NA	A8K915|Q53QF8|Q53RS8|Q8N1J8	37	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.330842	0.24167	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.12879	2.64;3.29	5.0	0.984	0.19773	.	0.914293	0.09252	N	0.827794	T	0.14874	0.0359	M	0.64997	1.995	0.25552	N	0.987079	B	0.23540	0.087	B	0.26202	0.067	T	0.32929	-0.9888	10	0.42905	T	0.14	0.472	5.4096	0.16341	0.5372:0.1583:0.0:0.3044	.	227	Q8IYA6	CKP2L_HUMAN	V	62;227	ENSP00000438763:L62V;ENSP00000305204:L227V	ENSP00000305204:L227V	L	-	1	2	CKAP2L	113230740	0.000000	0.05858	0.169000	0.22859	0.861000	0.49209	-0.261000	0.08694	0.062000	0.16340	0.477000	0.44152	TTG	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254082.2		-	ENST00000302450.6	Missense_Mutation	SNP	2 : 113514269 - 113514269 C PAAD-TCGA-RB-A7B8-Tumor-SM-54377	482	29
CNTN1	1272	broad.mit.edu	37	12	41422975	41422975	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:41422975G>A	ENST00000551295.2	+	23	3051	c.2934G>A	c.(2932-2934)gcG>gcA	p.A978A	CNTN1_ENST00000347616.1_Silent_p.A978A|CNTN1_ENST00000348761.2_Silent_p.A967A	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	978	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGGTTCGCGCGCACAGTGATG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	215	221			NA	NA	12		NA											NA				41422975		2203	4300	6503	SO:0001819	synonymous_variant			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236	1272	1272		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing, Endogenous ligands	2171	protein-coding gene	gene with protein product	glycoprotein gP135	600016			NA	7959734, 8586965	Standard	NM_001843	NM_001843	NA	Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2934G>A	12.37:g.41422975G>A		NA	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	37	CCDS8737.1																																																																																			CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403692.2		+	ENST00000551295.2	Silent	SNP	12 : 41422975 - 41422975 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	839	6
COL11A1	1301	broad.mit.edu	37	1	103483426	103483426	+	Missense_Mutation	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:103483426G>T	ENST00000370096.3	-	11	1675	c.1363C>A	c.(1363-1365)Cct>Act	p.P455T	COL11A1_ENST00000358392.2_Missense_Mutation_p.P467T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P339T|COL11A1_ENST00000353414.4_Missense_Mutation_p.P416T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	455	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCTGGAGGACCCATAATA	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	101	100			NA	NA	1		NA											NA				103483426		2203	4300	6503	SO:0001583	missense			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718	1301	1301		Collagens	2186	protein-coding gene	gene with protein product	collagen XI, alpha-1 polypeptide	120280		COLL6	NA	3182841	Standard	NM_080630	NM_080630	NA	Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1363C>A	1.37:g.103483426G>T	ENSP00000359114:p.Pro455Thr	NA	B1ASK7|D3DT73|Q14034|Q9UIT4|Q9UIT5|Q9UIT6	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322302	0.60634	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-2.43;-2.43	5.38	5.38	0.77491	.	0.110223	0.64402	D	0.000005	D	0.96935	0.8999	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.995;0.991;0.994;0.997	D	0.95999	0.8992	10	0.44086	T	0.13	.	19.111	0.93317	0.0:0.0:1.0:0.0	.	339;416;467;455	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	T	455;467;416;339;467	ENSP00000359114:P455T;ENSP00000351163:P467T;ENSP00000302551:P416T;ENSP00000426533:P339T;ENSP00000408640:P467T	ENSP00000302551:P416T	P	-	1	0	COL11A1	103256014	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.281000	0.89905	2.673000	0.90976	0.650000	0.86243	CCT	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029997.1		-	ENST00000370096.3	Missense_Mutation	SNP	1 : 103483426 - 103483426 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	635	82
COL6A3	1293	broad.mit.edu	37	2	238253001	238253001	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:238253001C>T	ENST00000295550.4	-	36	8112	c.7660G>A	c.(7660-7662)Gct>Act	p.A2554T	COL6A3_ENST00000472056.1_Missense_Mutation_p.A1947T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2353T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2354T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2348T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2348T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2554	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTGCAAAGCGTTGATGAGC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	155	154			NA	NA	2		NA											NA				238253001		2203	4300	6503	SO:0001583	missense			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359	1293	1293		Collagens	2213	protein-coding gene	gene with protein product		120250			NA	1339440, 11992252	Standard	NM_004369	NM_004369	NA	Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7660G>A	2.37:g.238253001C>T	ENSP00000295550:p.Ala2554Thr	NA	Q16501|Q53QF4|Q53QF6	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881687	0.51908	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.08	5.08	0.68730	von Willebrand factor, type A (3);	0.000000	0.52532	D	0.000069	D	0.90335	0.6976	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.88468	0.3060	10	0.30854	T	0.27	.	18.8647	0.92287	0.0:1.0:0.0:0.0	.	1947;1947;2348;2554	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	T	2554;2353;2348;1947;2348;2354	ENSP00000295550:A2554T;ENSP00000315609:A2353T;ENSP00000315873:A2348T;ENSP00000418285:A1947T;ENSP00000386844:A2348T;ENSP00000295546:A2354T	ENSP00000295550:A2554T	A	-	1	0	COL6A3	237917740	1.000000	0.71417	0.210000	0.23637	0.878000	0.50629	7.308000	0.78929	2.507000	0.84556	0.655000	0.94253	GCT	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000315790.2		-	ENST00000295550.4	Missense_Mutation	SNP	2 : 238253001 - 238253001 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1248	9
COQ10A	93058	broad.mit.edu	37	12	56662938	56662938	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:56662938G>A	ENST00000308197.5	+	3	638	c.377G>A	c.(376-378)cGt>cAt	p.R126H	COQ10A_ENST00000433805.2_Missense_Mutation_p.R94H|COQ10A_ENST00000546544.1_Missense_Mutation_p.R109H|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	126						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GTATCCAGCCGTAAGGGTCAT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	130	131			NA	NA	12		NA											NA				56662938		1958	4125	6083	SO:0001583	missense			AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469	93058	93058			26515	protein-coding gene	gene with protein product			coenzyme Q10 homolog A (yeast)		NA		Standard	NM_144576	NM_144576	NA	Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.377G>A	12.37:g.56662938G>A	ENSP00000312587:p.Arg126His	NA	Q6GMR6|Q6UWB9|Q86X16|Q96MF1|Q9BUP4	37	CCDS41796.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436623	0.96168	.	.	ENSG00000135469	ENST00000308197;ENST00000433805;ENST00000546544	T;T;T	0.26810	1.71;1.73;1.73	5.33	5.33	0.75918	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	L	0.54965	1.715	0.80722	D	1	P;P;P	0.47350	0.87;0.894;0.894	B;B;B	0.41571	0.245;0.258;0.36	T	0.06643	-1.0815	10	0.54805	T	0.06	.	18.1779	0.89767	0.0:0.0:1.0:0.0	.	109;131;126	Q96MF6-2;Q8TAL2;Q96MF6	.;.;CQ10A_HUMAN	H	126;94;109	ENSP00000312587:R126H;ENSP00000407843:R94H;ENSP00000446723:R109H	ENSP00000312587:R126H	R	+	2	0	COQ10A	54949205	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.651000	0.83577	2.665000	0.90641	0.561000	0.74099	CGT	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408332.1		+	ENST00000308197.5	Missense_Mutation	SNP	12 : 56662938 - 56662938 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	624	7
CTNNA3	29119	broad.mit.edu	37	10	67680252	67680252	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:67680252G>A	ENST00000433211.2	-	18	2698	c.2524C>T	c.(2524-2526)Cgg>Tgg	p.R842W	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R842W	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	NA					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTGGGTGCCGGGGCCCAGCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	87	89	88		2524,2524	2.9	1	10		88	0,8600		0,0,4300	no	missense,missense	CTNNA3	NM_001127384.1,NM_013266.2	101,101	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	842/896,842/896	67680252	1,13005	2203	4300	6503	SO:0001583	missense			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230	29119	29119			2511	protein-coding gene	gene with protein product		607667			NA	12596047, 11590244	Standard	NM_013266	XM_005269717	NA	Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2524C>T	10.37:g.67680252G>A	ENSP00000389714:p.Arg842Trp	NA	Q5VSR2|Q6P056	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709574	0.68730	2.27E-4	0.0	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.37235	1.21;1.21;1.21	5.92	2.87	0.33458	.	0.000000	0.52532	D	0.000080	T	0.43875	0.1267	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.44513	-0.9323	10	0.72032	D	0.01	-12.5285	13.3618	0.60661	0.0:0.0:0.423:0.577	.	842	Q9UI47	CTNA3_HUMAN	W	842;842;181	ENSP00000389714:R842W;ENSP00000362849:R842W;ENSP00000362840:R181W	ENSP00000362840:R181W	R	-	1	2	CTNNA3	67350258	1.000000	0.71417	0.980000	0.43619	0.984000	0.73092	2.574000	0.46016	0.779000	0.33543	-0.169000	0.13324	CGG	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048282.2		-	ENST00000433211.2	Missense_Mutation	SNP	10 : 67680252 - 67680252 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	636	8
CXorf56	63932	broad.mit.edu	37	X	118699217	118699217	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:118699217G>A	ENST00000320339.4	-	0	119				CXorf56_ENST00000371594.4_Silent_p.C34C|CXorf56_ENST00000536133.1_Silent_p.C34C	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	NA							protein binding			cervix(1)|endometrium(2)|lung(7)	10						CCATCTGGCCGCACAAACAGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	75	76			NA	NA	X		NA											NA				118699217		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610	63932	63932			26239	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_022101	NM_022101	NA	Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000320339.4:c.-153C>T	X.37:g.118699217G>A		NA	D3DWH9|O43351	37	CCDS55484.1																																																																																			CXorf56-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058042.3		-	ENST00000320339.4	5'UTR	SNP	X : 118699217 - 118699217 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	647	6
D2HGDH	728294	broad.mit.edu	37	2	242695353	242695353	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:242695353G>A	ENST00000321264.4	+	9	1439	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	D2HGDH_ENST00000403782.1_Silent_p.R276R|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	410					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTGTGGAGCGGCTCTACGACA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	95	103			NA	NA	2		NA											NA				242695353		2203	4296	6499	SO:0001819	synonymous_variant			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	728294	728294	1.1.99.-		28358	protein-coding gene	gene with protein product		609186			NA	15070399, 15609246	Standard	NM_152783	NM_152783	NA	Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1230G>A	2.37:g.242695353G>A		NA	Q6IQ24|Q8N5Q8	37	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.981055|2.981055	0.53827|0.53827	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000432449|ENST00000445308	.|.	.|.	.|.	5.31|5.31	1.28|1.28	0.21552|0.21552	.|.	.|.	.|.	.|.	.|.	T|T	0.58409|0.58409	0.2120|0.2120	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49303|0.49303	-0.8954|-0.8954	5|4	0.21540|.	T|.	0.41|.	-0.9944|-0.9944	10.3732|10.3732	0.44066|0.44066	0.1261:0.2087:0.6652:0.0|0.1261:0.2087:0.6652:0.0	.|.	.|.	.|.	.|.	T|D	164|209	.|.	ENSP00000383580:A315T|.	A|G	+|+	1|2	0|0	D2HGDH|D2HGDH	242344026|242344026	1.000000|1.000000	0.71417|0.71417	0.338000|0.338000	0.25549|0.25549	0.114000|0.114000	0.19823|0.19823	1.969000|1.969000	0.40510|0.40510	-0.269000|-0.269000	0.09298|0.09298	-1.595000|-1.595000	0.00837|0.00837	GCT|GGC	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322794.2		+	ENST00000321264.4	Silent	SNP	2 : 242695353 - 242695353 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	504	5
D2HGDH	728294	broad.mit.edu	37	2	242695366	242695366	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:242695366G>A	ENST00000321264.4	+	9	1452	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	D2HGDH_ENST00000403782.1_Missense_Mutation_p.V281M|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	415					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTACGACATCGTGACTGACCT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	102	83	89		1243	5.3	0.1	2		89	0,8592		0,0,4296	no	missense	D2HGDH	NM_152783.3	21	0,1,6498	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	415/522	242695366	1,12997	2203	4296	6499	SO:0001583	missense			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	728294	728294	1.1.99.-		28358	protein-coding gene	gene with protein product		609186			NA	15070399, 15609246	Standard	NM_152783	NM_152783	NA	Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1243G>A	2.37:g.242695366G>A	ENSP00000315351:p.Val415Met	NA	Q6IQ24|Q8N5Q8	37	CCDS33426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.80|17.80	3.477180|3.477180	0.63849|0.63849	2.27E-4|2.27E-4	0.0|0.0	ENSG00000180902|ENSG00000180902	ENST00000432449|ENST00000321264;ENST00000403782;ENST00000542211	.|D;D	.|0.85773	.|-2.03;-2.03	5.31|5.31	5.31|5.31	0.75309|0.75309	.|FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	.|0.071537	.|0.56097	.|D	.|0.000031	D|D	0.93585|0.93585	0.7952|0.7952	M|M	0.87381|0.87381	2.88|2.88	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.94453|0.94453	0.7669|0.7669	6|10	0.49607|0.87932	T|D	0.09|0	-3.3567|-3.3567	18.9757|18.9757	0.92735|0.92735	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|415	.|Q8N465	.|D2HDH_HUMAN	H|M	168|415;281;35	.|ENSP00000315351:V415M;ENSP00000384723:V281M	ENSP00000383580:R319H|ENSP00000315351:V415M	R|V	+|+	2|1	0|0	D2HGDH|D2HGDH	242344039|242344039	1.000000|1.000000	0.71417|0.71417	0.088000|0.088000	0.20740|0.20740	0.088000|0.088000	0.18126|0.18126	8.597000|8.597000	0.90847|0.90847	2.485000|2.485000	0.83878|0.83878	0.467000|0.467000	0.42956|0.42956	CGT|GTG	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322794.2		+	ENST00000321264.4	Missense_Mutation	SNP	2 : 242695366 - 242695366 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	553	91
DAZAP1	26528	broad.mit.edu	37	19	1425952	1425952	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:1425952G>A	ENST00000336761.6	+	7	744	c.539G>A	c.(538-540)gGc>gAc	p.G180D	DAZAP1_ENST00000233078.4_Missense_Mutation_p.G180D|DAZAP1_ENST00000586579.1_Intron	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	180	RRM 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACATCATGGGCAAAAAAGTG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													249	220	229			NA	NA	19		NA											NA				1425952		2202	4300	6502	SO:0001583	missense				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626	26528	26528		RNA binding motif (RRM) containing	2683	protein-coding gene	gene with protein product	deleted in azoospermia associated protein 1	607430			NA	10857750, 23658607	Standard	NM_170711	XM_005259530	NA	Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000336761.6:c.539G>A	19.37:g.1425952G>A	ENSP00000337132:p.Gly180Asp	NA	Q96MJ3|Q9NRR9	37	CCDS12066.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319314	0.81469	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	D;D	0.81821	-1.54;-1.54	4.26	4.26	0.50523	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.88306	0.6401	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.993	D;P;P	0.87578	0.998;0.9;0.839	D	0.89738	0.3931	10	0.66056	D	0.02	.	16.0567	0.80812	0.0:0.0:1.0:0.0	.	247;180;180	Q5IRN4;Q96EP5;Q96EP5-2	.;DAZP1_HUMAN;.	D	180	ENSP00000233078:G180D;ENSP00000337132:G180D	ENSP00000233078:G180D	G	+	2	0	DAZAP1	1376952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.744000	0.98853	2.085000	0.62840	0.655000	0.94253	GGC	DAZAP1-003	NOVEL	NAGNAG_splice_site|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000449528.2		+	ENST00000336761.6	Missense_Mutation	SNP	19 : 1425952 - 1425952 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	665	6
DCAF4L1	285429	broad.mit.edu	37	4	41984154	41984154	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:41984154C>T	ENST00000333141.5	+	1	442	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	115										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCACGTGTACGTGCTCAGAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	97	100			NA	NA	4		NA											NA				41984154		2203	4300	6503	SO:0001819	synonymous_variant			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308	285429	285429		WD repeat domain containing	27723	protein-coding gene	gene with protein product			WD repeat domain 21B	WDR21B	NA		Standard	NM_001029955	NM_001029955	NA	Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.345C>T	4.37:g.41984154C>T		NA	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	37	CCDS33978.1																																																																																			DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360958.1		+	ENST00000333141.5	Silent	SNP	4 : 41984154 - 41984154 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	512	70
DENND5B	160518	broad.mit.edu	37	12	31577541	31577541	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:31577541C>T	ENST00000389082.5	-	10	2583	c.2319G>A	c.(2317-2319)gaG>gaA	p.E773E	DENND5B_ENST00000306833.6_Silent_p.E808E|DENND5B_ENST00000536562.1_Silent_p.E808E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	773	RUN 1.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGGTGTTCTCCTCCAGGCCGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													214	208	210			NA	NA	12		NA											NA				31577541		2085	4238	6323	SO:0001819	synonymous_variant			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456	160518	160518		DENN/MADD domain containing	28338	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144973	NM_144973	NA	Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2319G>A	12.37:g.31577541C>T		NA	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	37	CCDS44857.1																																																																																			DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402040.1		-	ENST00000389082.5	Silent	SNP	12 : 31577541 - 31577541 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	683	31
DNAJC5B	85479	broad.mit.edu	37	8	66988979	66988979	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:66988979C>T	ENST00000276570.5	+	4	491	c.204C>T	c.(202-204)caC>caT	p.H68H	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	68	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.H68H(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ACAACGCCCACGCAATACTTA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											169	151	157			NA	NA	8		NA											NA				66988979		2203	4300	6503	SO:0001819	synonymous_variant			AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570	85479	85479		Heat shock proteins / DNAJ (HSP40)	24138	protein-coding gene	gene with protein product		613945			NA	12477932	Standard	NM_033105	NM_033105	NA	Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.204C>T	8.37:g.66988979C>T		NA	Q969Y8	37	CCDS6183.1																																																																																			DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378915.1		+	ENST00000276570.5	Silent	SNP	8 : 66988979 - 66988979 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	710	7
DSP	1832	broad.mit.edu	37	6	7580347	7580347	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:7580347G>A	ENST00000379802.3	+	23	4265	c.3924G>A	c.(3922-3924)cgG>cgA	p.R1308R	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1308	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACAATGCCCGGCACAAGCAGT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	83	82			NA	NA	6		NA											NA				7580347		2202	4300	6502	SO:0001819	synonymous_variant			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696	1832	1832			3052	protein-coding gene	gene with protein product		125647	desmoplakin (DPI, DPII)		NA	1889810	Standard	NM_004415	NM_004415	NA	Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3924G>A	6.37:g.7580347G>A		NA	B2RTT2|O75993|Q14189|Q9UHN4	37	CCDS4501.1																																																																																			DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039786.2		+	ENST00000379802.3	Silent	SNP	6 : 7580347 - 7580347 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	563	5
EIF4EBP2	1979	broad.mit.edu	37	10	72179709	72179709	+	Missense_Mutation	SNP	G	G	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:72179709G>C	ENST00000373218.4	+	2	208	c.185G>C	c.(184-186)cGt>cCt	p.R62P		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	62					negative regulation of translational initiation|translation		eukaryotic initiation factor 4E binding			large_intestine(1)	1						CTGTTGGATCGTCGCAATTCT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	100	99			NA	NA	10		NA											NA				72179709		2203	4300	6503	SO:0001583	missense				CCDS7303.1	10q21-q22	2008-08-01			ENSG00000148730	ENSG00000148730	1979	1979			3289	protein-coding gene	gene with protein product		602224			NA	7935836, 8975712	Standard	NM_004096	NM_004096	NA	Approved		uc001jrb.3	Q13542	OTTHUMG00000018409	ENST00000373218.4:c.185G>C	10.37:g.72179709G>C	ENSP00000362314:p.Arg62Pro	NA		37	CCDS7303.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628140	0.87560	.	.	ENSG00000148730	ENST00000373218	.	.	.	5.56	4.66	0.58398	.	0.047741	0.85682	D	0.000000	T	0.68274	0.2983	L	0.56769	1.78	0.58432	D	0.999999	D	0.61697	0.99	P	0.59357	0.856	T	0.71258	-0.4646	9	0.59425	D	0.04	-6.3829	13.7427	0.62857	0.0756:0.0:0.9244:0.0	.	62	Q13542	4EBP2_HUMAN	P	62	.	ENSP00000362314:R62P	R	+	2	0	EIF4EBP2	71849715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.117000	0.94347	1.498000	0.48600	0.650000	0.86243	CGT	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048513.1		+	ENST00000373218.4	Missense_Mutation	SNP	10 : 72179709 - 72179709 C PAAD-TCGA-RB-A7B8-Tumor-SM-54377	518	71
EPB41L1	2036	broad.mit.edu	37	20	34773105	34773105	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:34773105G>A	ENST00000338074.2	+	7	794	c.633G>A	c.(631-633)acG>acA	p.T211T	EPB41L1_ENST00000202028.5_Silent_p.T149T|EPB41L1_ENST00000441639.1_Silent_p.T149T|EPB41L1_ENST00000373946.3_Silent_p.T180T|EPB41L1_ENST00000373950.2_Silent_p.T114T|EPB41L1_ENST00000373941.1_Silent_p.T211T	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	211	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCTTTGTCACGCATGCCCTAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	67	70			NA	NA	20		NA											NA				34773105		2203	4300	6503	SO:0001819	synonymous_variant			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367	2036	2036			3378	protein-coding gene	gene with protein product		602879			NA	9570967, 9828140	Standard	NM_012156	NM_012156	NA	Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.633G>A	20.37:g.34773105G>A		NA	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	37	CCDS13271.1																																																																																			EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078978.3		+	ENST00000338074.2	Silent	SNP	20 : 34773105 - 34773105 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	422	5
EPHB1	2047	broad.mit.edu	37	3	134873067	134873067	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:134873067G>A	ENST00000398015.3	+	6	1741	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	EPHB1_ENST00000493838.1_Silent_p.P18P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	457	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCCACAGCCGGAGCAGCCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	148	145			NA	NA	3		NA											NA				134873067		2194	4298	6492	SO:0001819	synonymous_variant			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928	2047	2047		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3392	protein-coding gene	gene with protein product		600600	EphB1	EPHT2	NA	8666391	Standard	NM_004441	NM_004441	NA	Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1371G>A	3.37:g.134873067G>A		NA	A8K593|O43569|O95142|O95143|Q0VG87	37	CCDS46921.1																																																																																			EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357671.1		+	ENST00000398015.3	Silent	SNP	3 : 134873067 - 134873067 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	918	6
EPHB4	2050	broad.mit.edu	37	7	100402884	100402884	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100402884C>T	ENST00000358173.3	-	16	3206	c.2738G>A	c.(2737-2739)gGc>gAc	p.G913D	EPHB4_ENST00000360620.3_Intron	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	913	SAM.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AAGCCACTCGCCCACAGAGCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(200;2113 3072 25865 52728)							NA				0													33	32	33			NA	NA	7		NA											NA				100402884		2203	4300	6503	SO:0001583	missense			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411	2050	2050		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	3395	protein-coding gene	gene with protein product		600011	EphB4	HTK	NA	8188704	Standard	NM_004444	NM_004444	NA	Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2738G>A	7.37:g.100402884C>T	ENSP00000350896:p.Gly913Asp	NA	Q9BTA5|Q9BXP0	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549037	0.65311	.	.	ENSG00000196411	ENST00000358173	T	0.51325	0.71	5.07	5.07	0.68467	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.51477	D	0.000085	T	0.53334	0.1790	L	0.33624	1.015	0.47374	D	0.999405	D	0.61080	0.989	P	0.59357	0.856	T	0.48328	-0.9045	10	0.32370	T	0.25	.	15.9362	0.79712	0.0:1.0:0.0:0.0	.	913	P54760	EPHB4_HUMAN	D	913	ENSP00000350896:G913D	ENSP00000350896:G913D	G	-	2	0	EPHB4	100240820	0.999000	0.42202	0.987000	0.45799	0.985000	0.73830	4.063000	0.57499	2.372000	0.80975	0.561000	0.74099	GGC	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347222.1		-	ENST00000358173.3	Missense_Mutation	SNP	7 : 100402884 - 100402884 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	164	27
EPHX2	2053	broad.mit.edu	37	8	27373915	27373915	+	Splice_Site	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:27373915G>A	ENST00000521780.1	+	7	883	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	EPHX2_ENST00000521400.1_Splice_Site_p.E304K|EPHX2_ENST00000518379.1_Splice_Site_p.E272K|EPHX2_ENST00000380476.3_Splice_Site_p.E251K|EPHX2_ENST00000517536.1_Splice_Site_p.E121K	NM_001256483.1	NP_001243412.1	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	304	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TGCTCCTCCCGGTGGGTGTGC	0.567		NA									OREG0018668	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													290	250	264			NA	NA	8		NA											NA				27373915		2203	4300	6503	SO:0001630	splice_region_variant			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	2053	2053	3.3.2.10		3402	protein-coding gene	gene with protein product		132811			NA		Standard		NM_001979	NA	Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521780.1:c.712+1G>A	8.37:g.27373915G>A		793	B2Z3B1|Q16764|Q9HBJ1|Q9HBJ2	37	CCDS59098.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299688	0.40694	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.67	5.67	0.87782	Alpha/beta hydrolase fold-1 (1);	0.288097	0.42821	D	0.000645	T	0.65749	0.2721	M	0.80183	2.485	0.80722	D	1	B;B;B	0.25521	0.026;0.109;0.128	B;B;B	0.20955	0.031;0.028;0.032	T	0.63761	-0.6564	10	0.39692	T	0.17	-5.1595	17.2762	0.87116	0.0:0.0:1.0:0.0	.	272;304;304	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	K	304;121;238;251;308;272	ENSP00000430269:E304K;ENSP00000428875:E121K;ENSP00000430302:E238K;ENSP00000369843:E251K;ENSP00000427956:E272K	ENSP00000369843:E251K	E	+	1	0	EPHX2	27429832	1.000000	0.71417	0.736000	0.30914	0.054000	0.15201	5.558000	0.67319	2.677000	0.91161	0.561000	0.74099	GAA	EPHX2-008	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376137.1	Missense_Mutation	+	ENST00000521780.1	Splice_Site	SNP	8 : 27373915 - 27373915 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	791	6
ERG	2078	broad.mit.edu	37	21	39755612	39755612	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:39755612G>A	ENST00000417133.2	-	12	1359	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	ERG_ENST00000442448.1_Missense_Mutation_p.R368C|ERG_ENST00000398897.1_Missense_Mutation_p.R269C|ERG_ENST00000398907.1_Missense_Mutation_p.R362C|ERG_ENST00000398911.1_Missense_Mutation_p.R368C|ERG_ENST00000398905.1_Missense_Mutation_p.R361C|ERG_ENST00000288319.7_Missense_Mutation_p.R385C|ERG_ENST00000398919.2_Missense_Mutation_p.R392C|ERG_ENST00000398910.1_Missense_Mutation_p.R369C|ERG_ENST00000453032.2_Missense_Mutation_p.R293C	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	392					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TAGGCGTAGCGCTTCCCATGG	0.572		NA	T	EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1	Ewing sarcoma, prostate, AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(130;336 1700 3010 3083 40589)		Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		M, E, L	0													140	118	126			NA	NA	21		NA											NA				39755612		2203	4300	6503	SO:0001583	missense				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554	2078	2078			3446	protein-coding gene	gene with protein product	v-ets avian erythroblastosis virus E26 oncogene related, transcriptional regulator ERG (transforming protein ERG), v-ets erythroblastosis virus E26 oncogene like, TMPRSS2-ERG prostate cancer specific	165080	v-ets avian erythroblastosis virus E26 oncogene related		NA	3274086	Standard	NM_182918	NM_001136154	NA	Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1174C>T	21.37:g.39755612G>A	ENSP00000414150:p.Arg392Cys	NA	B4DTW5|B4E0T4|Q16113|Q6XXX4|Q6XXX5|Q8IXK9	37	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728867	0.89390	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.992;1.0;1.0;0.957	T	0.70905	-0.4745	10	0.87932	D	0	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	392;361;368;385	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	C	361;362;385;269;368;392;369;368;293;392	ENSP00000381877:R361C;ENSP00000381879:R362C;ENSP00000288319:R385C;ENSP00000381871:R269C;ENSP00000381882:R368C;ENSP00000414150:R392C;ENSP00000381881:R369C;ENSP00000394694:R368C;ENSP00000396268:R293C;ENSP00000381891:R392C	ENSP00000288319:R385C	R	-	1	0	ERG	38677482	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.404000	0.81709	0.655000	0.94253	CGC	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207532.2		-	ENST00000417133.2	Missense_Mutation	SNP	21 : 39755612 - 39755612 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	606	17
EZH1	2145	broad.mit.edu	37	17	40865346	40865346	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:40865346C>T	ENST00000590078.1	-	10	1085	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	EZH1_ENST00000435174.1_Missense_Mutation_p.R223Q|EZH1_ENST00000592743.1_Missense_Mutation_p.R362Q|EZH1_ENST00000428826.2_Missense_Mutation_p.R362Q|EZH1_ENST00000585893.1_Missense_Mutation_p.R322Q|EZH1_ENST00000415827.2_Missense_Mutation_p.R353Q			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	362					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GTGCCTTCTCCGGCGACGACC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	102	108			NA	NA	17		NA											NA				40865346		2203	4300	6503	SO:0001583	missense				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799	2145	2145		Chromatin-modifying enzymes / K-methyltransferases	3526	protein-coding gene	gene with protein product		601674	enhancer of zeste (Drosophila) homolog 1, enhancer of zeste homolog 1 (Drosophila)		NA	8921387	Standard	NM_001991	NM_001991	NA	Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000590078.1:c.875G>A	17.37:g.40865346C>T	ENSP00000465220:p.Arg292Gln	NA	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	37		.	.	.	.	.	.	.	.	.	.	C	20.5	4.008400	0.75046	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	D;D	0.86030	-2.06;-2.06	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	L	0.46157	1.445	0.58432	D	0.999998	P;P;P;P;P	0.46656	0.764;0.882;0.882;0.72;0.812	B;B;B;B;B	0.35859	0.212;0.209;0.209;0.209;0.149	T	0.78558	-0.2158	10	0.22706	T	0.39	.	19.0657	0.93108	0.0:1.0:0.0:0.0	.	223;322;368;292;362	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	Q	365;362;322;223	ENSP00000404658:R362Q;ENSP00000404071:R223Q	ENSP00000264646:R365Q	R	-	2	0	EZH1	38118872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.590000	0.74085	2.734000	0.93682	0.555000	0.69702	CGG	EZH1-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000452353.1		-	ENST00000590078.1	Missense_Mutation	SNP	17 : 40865346 - 40865346 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	522	5
F13A1	2162	broad.mit.edu	37	6	6318801	6318801	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:6318801G>A	ENST00000264870.3	-	2	362	c.97C>T	c.(97-99)Cag>Tag	p.Q33*		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	33					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ACCACGCCCTGAAGCTCCACT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	124	129			NA	NA	6		NA											NA				6318801		2203	4300	6503	SO:0001587	stop_gained			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491	2162	2162		Transglutaminases	3531	protein-coding gene	gene with protein product		134570		F13A	NA		Standard	NM_000129	NM_000129	NA	Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.97C>T	6.37:g.6318801G>A	ENSP00000264870:p.Gln33*	NA	Q59HA7|Q8N6X2|Q96P24|Q9BX29	37	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708509	0.30322	.	.	ENSG00000124491	ENST00000264870;ENST00000441301;ENST00000414279;ENST00000431222	.	.	.	4.64	2.72	0.32119	.	0.685255	0.14021	N	0.346817	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	6.3836	0.21548	0.1029:0.3924:0.5047:0.0	.	.	.	.	X	33;33;33;71	.	ENSP00000264870:Q33X	Q	-	1	0	F13A1	6263800	0.009000	0.17119	0.141000	0.22245	0.004000	0.04260	1.095000	0.30964	1.130000	0.42092	0.643000	0.83706	CAG	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039756.3		-	ENST00000264870.3	Nonsense_Mutation	SNP	6 : 6318801 - 6318801 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	671	7
FAM83G	644815	broad.mit.edu	37	17	18874844	18874844	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:18874844G>A	ENST00000388995.6	-	6	2523	c.2300C>T	c.(2299-2301)gCc>gTc	p.A767V	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A767V|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A767V|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	767										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CATGGGGCGGGCATTTTGGGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	88	85			NA	NA	17		NA											NA				18874844		1977	4145	6122	SO:0001583	missense			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522	644815	644815			32554	protein-coding gene	gene with protein product	protein associated with SMAD1	615886			NA	24554596	Standard		NM_001039999	NA	Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2300C>T	17.37:g.18874844G>A	ENSP00000373647:p.Ala767Val	NA	Q3KQZ4|Q6ZW60	37	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	7.947	0.743933	0.15642	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.12039	2.72;2.72	5.04	2.98	0.34508	.	1.318120	0.05124	N	0.491337	T	0.15219	0.0367	L	0.51422	1.61	0.09310	N	1	B	0.20261	0.043	B	0.19946	0.027	T	0.33085	-0.9882	10	0.23891	T	0.37	-5.5706	8.3552	0.32327	0.089:0.1598:0.7512:0.0	.	767	A6ND36	FA83G_HUMAN	V	767	ENSP00000373647:A767V;ENSP00000343279:A767V	ENSP00000343279:A767V	A	-	2	0	FAM83G	18815569	0.002000	0.14202	0.001000	0.08648	0.069000	0.16628	1.162000	0.31786	1.209000	0.43321	0.561000	0.74099	GCC	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253108.4		-	ENST00000388995.6	Missense_Mutation	SNP	17 : 18874844 - 18874844 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	838	6
FBXL17	64839	broad.mit.edu	37	5	107216677	107216677	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:107216677A>G	ENST00000496714.1	-	7	1033	c.832T>C	c.(832-834)Tca>Cca	p.S278P	FBXL17_ENST00000542267.1_Intron|FBXL17_ENST00000359660.5_Intron			Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	0										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AGAGGATATGACATCAAGCTA	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743	64839	64839		F-boxes / Leucine-rich repeats	13615	protein-coding gene	gene with protein product		609083	F-box only protein 13	FBXO13	NA		Standard		NM_001163315	NA	Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000496714.1:c.832T>C	5.37:g.107216677A>G	ENSP00000418111:p.Ser278Pro	NA	A1A4E3	37		.	.	.	.	.	.	.	.	.	.	A	11.28	1.590746	0.28357	.	.	ENSG00000145743	ENST00000496714	T	0.12672	2.66	4.57	1.84	0.25277	.	.	.	.	.	T	0.10423	0.0255	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27365	-1.0076	8	0.56958	D	0.05	.	6.818	0.23841	0.7224:0.0:0.2776:0.0	.	278	Q9UF56-2	.	P	278	ENSP00000418111:S278P	ENSP00000418111:S278P	S	-	1	0	FBXL17	107244576	0.004000	0.15560	0.006000	0.13384	0.072000	0.16883	1.162000	0.31786	0.374000	0.24650	0.533000	0.62120	TCA	FBXL17-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000357331.1		-	ENST00000496714.1	Missense_Mutation	SNP	5 : 107216677 - 107216677 G PAAD-TCGA-RB-A7B8-Tumor-SM-54377	360	46
FLG	2312	broad.mit.edu	37	1	152277587	152277587	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:152277587C>T	ENST00000368799.1	-	3	9810	c.9775G>A	c.(9775-9777)Gaa>Aaa	p.E3259K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3259	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCTGTCTTCGTGATGGGAC	0.582		NA							Ichthyosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													241	245	244			NA	NA	1		NA											NA				152277587		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631	2312	2312		EF-hand domain containing	3748	protein-coding gene	gene with protein product		135940			NA	2740331, 2248957, 16444271	Standard	NM_002016	NM_002016	NA	Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9775G>A	1.37:g.152277587C>T	ENSP00000357789:p.Glu3259Lys	NA	Q01720|Q5T583|Q9UC71	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424271	0.25639	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.02103	4.45	1.52	-3.04	0.05412	.	.	.	.	.	T	0.01287	0.0042	M	0.68317	2.08	0.09310	N	1	D	0.56287	0.975	P	0.55713	0.782	T	0.30416	-0.9979	9	0.07644	T	0.81	-0.6633	3.8186	0.08825	0.0:0.3025:0.4847:0.2128	.	3259	P20930	FILA_HUMAN	K	3259;197	ENSP00000357789:E3259K	ENSP00000357786:E197K	E	-	1	0	FLG	150544211	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.047000	0.03521	-0.855000	0.04125	-0.535000	0.04281	GAA	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033742.1		-	ENST00000368799.1	Missense_Mutation	SNP	1 : 152277587 - 152277587 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	2295	288
FN3KRP	79672	broad.mit.edu	37	17	80684911	80684911	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:80684911G>A	ENST00000269373.6	+	6	867	c.794G>A	c.(793-795)gGc>gAc	p.G265D	FN3KRP_ENST00000535965.1_Missense_Mutation_p.G215D	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	265				G -> C (in Ref. 4; AAH01458).			kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCCTACCACGGCAAAATCCCC	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	65	64			NA	NA	17		NA											NA				80684911		2203	4300	6503	SO:0001583	missense			AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560	79672	79672			25700	protein-coding gene	gene with protein product		611683			NA	14633848	Standard	NM_024619	NM_024619	NA	Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.794G>A	17.37:g.80684911G>A	ENSP00000269373:p.Gly265Asp	NA	Q969F4|Q9H0U7	37	CCDS11817.1	.	.	.	.	.	.	.	.	.	.	G	7.125	0.578636	0.13686	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.50277	0.75;0.75	5.82	3.82	0.43975	Protein kinase-like domain (1);	0.519883	0.25294	N	0.031701	T	0.24470	0.0593	N	0.05031	-0.125	0.24613	N	0.993718	B	0.10296	0.003	B	0.16722	0.016	T	0.12142	-1.0559	10	0.33141	T	0.24	-18.7461	8.1316	0.31031	0.1411:0.1285:0.7304:0.0	.	265	Q9HA64	KT3K_HUMAN	D	265;215	ENSP00000269373:G265D;ENSP00000444994:G215D	ENSP00000269373:G265D	G	+	2	0	FN3KRP	78278200	0.830000	0.29337	0.918000	0.36340	0.024000	0.10985	2.387000	0.44389	1.472000	0.48140	0.655000	0.94253	GGC	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439219.1		+	ENST00000269373.6	Missense_Mutation	SNP	17 : 80684911 - 80684911 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1076	6
GLI2	2736	broad.mit.edu	37	2	121736099	121736099	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:121736099G>A	ENST00000452319.1	+	10	1518	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	GLI2_ENST00000314490.11_Silent_p.A158A|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Silent_p.A486A			P10070	GLI2_HUMAN	GLI family zinc finger 2	486					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTTCAAGGCGCAGTACATGC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	89	93			NA	NA	2		NA											NA				121736099		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047	2736	2736		Zinc fingers, C2H2-type	4318	protein-coding gene	gene with protein product	tax-responsive element-2 holding protein, tax helper protein 1, tax helper protein 2	165230	GLI-Kruppel family member GLI2, glioma-associated oncogene family zinc finger 2		NA	2850480, 9557682	Standard	NM_005270	NM_005270	NA	Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1458G>A	2.37:g.121736099G>A		NA	O60252|O60253|O60254|O60255|Q15590|Q15591|Q4JHT4	37	CCDS33283.1																																																																																			GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332293.3		+	ENST00000452319.1	Silent	SNP	2 : 121736099 - 121736099 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	585	5
GNAS	2778	broad.mit.edu	37	20	57430245	57430245	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:57430245C>T	ENST00000371100.4	+	1	2477	c.1925C>T	c.(1924-1926)gCg>gTg	p.A642V	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.R579W|GNAS_ENST00000371099.2_Missense_Mutation_p.A642V|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.A642V|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTACCCCTGGCGGAGAAGCGC	0.592		NA	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	0													24	28	27			NA	NA	20		NA											NA				57430245		2027	4202	6229	SO:0001583	missense			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460	2778	2778			4392	protein-coding gene	gene with protein product	secretogranin VI	139320	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	GNAS1	NA		Standard	NM_000516	NM_000516	NA	Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1925C>T	20.37:g.57430245C>T	ENSP00000360141:p.Ala642Val	NA	E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	37	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.632|3.632	-0.075297|-0.075297	0.07184|0.07184	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102;ENST00000349036|ENST00000306120;ENST00000423897	D;D;D|.	0.89810|.	-2.41;-2.41;-2.57|.	3.84|3.84	-3.82|-3.82	0.04281|0.04281	.|.	11.375600|.	0.00166|.	N|.	0.000002|.	T|T	0.16981|0.16981	0.0408|0.0408	N|N	0.08118|0.08118	0|0	0.24069|0.24069	N|N	0.995984|0.995984	B|.	0.28178|.	0.202|.	B|.	0.17433|.	0.018|.	T|T	0.28332|0.28332	-1.0047|-1.0047	10|6	0.44086|0.87932	T|D	0.13|0	.|.	4.5295|4.5295	0.11997|0.11997	0.5251:0.2857:0.0:0.1892|0.5251:0.2857:0.0:0.1892	.|.	642|.	Q5JWF2|.	GNAS1_HUMAN|.	V|W	642;642;642;15|579;5	ENSP00000360141:A642V;ENSP00000360143:A642V;ENSP00000265621:A15V|.	ENSP00000265621:A15V|ENSP00000302237:R579W	A|R	+|+	2|1	0|2	GNAS|GNAS	56863640|56863640	0.002000|0.002000	0.14202|0.14202	0.204000|0.204000	0.23530|0.23530	0.101000|0.101000	0.19017|0.19017	-0.367000|-0.367000	0.07553|0.07553	-0.810000|-0.810000	0.04375|0.04375	-0.362000|-0.362000	0.07510|0.07510	GCG|CGG	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080417.3		+	ENST00000371100.4	Missense_Mutation	SNP	20 : 57430245 - 57430245 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	81	15
GNL1	2794	broad.mit.edu	37	6	30514571	30514571	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:30514571C>T	ENST00000376621.3	-	11	2454	c.1484G>A	c.(1483-1485)cGg>cAg	p.R495Q		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	495					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CACATCATTCCGAGCCGCCTT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	97	97			NA	NA	6		NA											NA				30514571		1510	2709	4219	SO:0001583	missense				CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590	2794	2794			4413	protein-coding gene	gene with protein product		143024			NA	8180467	Standard		NM_005275	NA	Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1484G>A	6.37:g.30514571C>T	ENSP00000365806:p.Arg495Gln	NA	B0S838|Q96CT5	37	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	C	35	5.554718	0.96514	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	T	0.49720	0.77	5.44	5.44	0.79542	.	0.119786	0.56097	D	0.000022	T	0.45458	0.1343	L	0.37630	1.12	0.58432	D	0.999999	P;D;B	0.89917	0.889;1.0;0.052	P;D;B	0.74674	0.617;0.984;0.007	T	0.24512	-1.0158	10	0.09338	T	0.73	-40.1993	18.0176	0.89246	0.0:1.0:0.0:0.0	.	493;292;495	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	Q	495;317;292	ENSP00000365806:R495Q	ENSP00000365806:R495Q	R	-	2	0	GNL1	30622550	1.000000	0.71417	0.233000	0.24025	0.996000	0.88848	6.691000	0.74573	2.560000	0.86352	0.561000	0.74099	CGG	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076241.2		-	ENST00000376621.3	Missense_Mutation	SNP	6 : 30514571 - 30514571 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	474	7
GPR78	27201	broad.mit.edu	37	4	8582937	8582937	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:8582937C>T	ENST00000382487.4	+	1	645	c.228C>T	c.(226-228)ccC>ccT	p.P76P	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	76					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGTCGGCGCCCGGCGCATGCC	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	18	17			NA	NA	4		NA											NA				8582937		2200	4294	6494	SO:0001819	synonymous_variant			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269	27201	27201		GPCR / Class A : Orphans	4528	protein-coding gene	gene with protein product		606921			NA	11574155	Standard		NM_080819	NA	Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.228C>T	4.37:g.8582937C>T		NA	Q8NGV3	37	CCDS3403.1																																																																																			GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359201.1		+	ENST00000382487.4	Silent	SNP	4 : 8582937 - 8582937 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	110	17
GRK4	2868	broad.mit.edu	37	4	3015458	3015458	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:3015458G>A	ENST00000398052.4	+	8	987	c.644G>A	c.(643-645)tGc>tAc	p.C215Y	GRK4_ENST00000345167.6_Missense_Mutation_p.C183Y|GRK4_ENST00000504933.1_Missense_Mutation_p.C215Y|GRK4_ENST00000398051.4_Missense_Mutation_p.C183Y	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	215	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATGTATGCCTGCAAAAAGCTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	151	148			NA	NA	4		NA											NA				3015458		2203	4300	6503	SO:0001583	missense				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388	2868	2868			4543	protein-coding gene	gene with protein product		137026	G protein-coupled receptor kinase 2-like (Drosophila)	GPRK2L	NA	1338872	Standard	NM_005307	NM_182982	NA	Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.644G>A	4.37:g.3015458G>A	ENSP00000381129:p.Cys215Tyr	NA	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	37	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407065	0.83230	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.67	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.45935	0.1367	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.67145	0.991;0.969;0.988;0.996	P;P;P;P	0.58820	0.734;0.846;0.734;0.827	T	0.51100	-0.8748	10	0.87932	D	0	-11.636	16.619	0.84925	0.0:0.0:1.0:0.0	.	183;183;215;215	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	Y	183;215;183;215	ENSP00000381128:C183Y;ENSP00000381129:C215Y;ENSP00000264764:C183Y;ENSP00000427445:C215Y	ENSP00000264764:C183Y	C	+	2	0	GRK4	2985256	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.500000	0.97977	2.151000	0.67156	0.585000	0.79938	TGC	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358176.2		+	ENST00000398052.4	Missense_Mutation	SNP	4 : 3015458 - 3015458 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	922	7
GSK3B	2932	broad.mit.edu	37	3	119595270	119595270	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:119595270G>A	ENST00000264235.8	-	8	1881	c.899C>T	c.(898-900)cCt>cTt	p.P300L	GSK3B_ENST00000316626.5_Missense_Mutation_p.P300L|GSK3B_ENST00000473886.1_5'UTR	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	300	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CTTAGTCCAAGGATGTGCCTT	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													152	142	145			NA	NA	3		NA											NA				119595270		2203	4300	6503	SO:0001583	missense			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701	2932	2932			4617	protein-coding gene	gene with protein product		605004			NA	10486203	Standard		NM_002093	NA	Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.899C>T	3.37:g.119595270G>A	ENSP00000264235:p.Pro300Leu	NA	D3DN89|Q9BWH3|Q9UL47	37	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414006	0.62511	.	.	ENSG00000082701	ENST00000264235;ENST00000316626;ENST00000539838	T;T	0.41400	1.0;1.0	4.62	4.62	0.57501	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39118	0.1066	L	0.43152	1.355	0.80722	D	1	B;P	0.38129	0.416;0.619	B;B	0.36335	0.222;0.142	T	0.45789	-0.9237	10	0.72032	D	0.01	-6.4785	18.0111	0.89224	0.0:0.0:1.0:0.0	.	300;300	P49841;P49841-2	GSK3B_HUMAN;.	L	300;300;17	ENSP00000264235:P300L;ENSP00000324806:P300L	ENSP00000264235:P300L	P	-	2	0	GSK3B	121077960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.142000	0.94618	2.561000	0.86390	0.650000	0.86243	CCT	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000258240.2		-	ENST00000264235.8	Missense_Mutation	SNP	3 : 119595270 - 119595270 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	423	6
GTPBP8	29083	broad.mit.edu	37	3	112710121	112710121	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:112710121G>A	ENST00000383677.3	+	1	290	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GTPBP8_ENST00000383678.2_Missense_Mutation_p.R92H	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	92					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GAACGGAACCGCATCGACTAC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	41	39	40		275,275	5.2	1	3		40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GTPBP8	NM_014170.2,NM_138485.1	29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	92/285,92/252	112710121	1,13005	2203	4300	6503	SO:0001583	missense			BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607	29083	29083			25007	protein-coding gene	gene with protein product					NA		Standard	NM_014170	NM_014170	NA	Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383677.3:c.275G>A	3.37:g.112710121G>A	ENSP00000373175:p.Arg92His	NA	A6NE99|A6NN11|A8K0P6|Q5I0Y4	37	CCDS33821.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494060	0.64186	0.0	1.16E-4	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.48836	2.35;0.8	6.08	5.19	0.71726	.	0.293519	0.38897	N	0.001533	T	0.61022	0.2314	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.67382	0.951;0.821	T	0.64093	-0.6488	10	0.56958	D	0.05	-1.0752	5.3975	0.16276	0.0749:0.1445:0.6305:0.1501	.	92;92	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	H	92	ENSP00000373176:R92H;ENSP00000373175:R92H	ENSP00000295864:R92H	R	+	2	0	GTPBP8	114192811	1.000000	0.71417	1.000000	0.80357	0.306000	0.27790	2.285000	0.43487	1.564000	0.49628	0.655000	0.94253	CGC	GTPBP8-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000354261.2		+	ENST00000383677.3	Missense_Mutation	SNP	3 : 112710121 - 112710121 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	384	5
HAP1	9001	broad.mit.edu	37	17	39881124	39881124	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:39881124G>A	ENST00000393939.2	-	10	1623	c.1614C>T	c.(1612-1614)agC>agT	p.S538S	HAP1_ENST00000310778.5_Silent_p.S615S|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.S546S|HAP1_ENST00000347901.4_Silent_p.S563S			P54257	HAP1_HUMAN	huntingtin-associated protein 1	615	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GGCCCAAGCCGCTGGCCTCCA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,,	0,4406		0,0,2203	199	181	187		1638,1614,1689	-5.3	0.4	17		187	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	HAP1	NM_001079870.1,NM_001079871.1,NM_177977.2	,,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,,	546/603,538/595,563/620	39881124	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805	9001	9001			4812	protein-coding gene	gene with protein product	neuroan 1	600947		HAP2	NA	7477378, 9668110	Standard	NM_003949	NM_177977	NA	Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000393939.2:c.1614C>T	17.37:g.39881124G>A		NA	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	37	CCDS42339.1																																																																																			HAP1-007	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389618.1		-	ENST00000393939.2	Silent	SNP	17 : 39881124 - 39881124 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1191	7
HAS2	3037	broad.mit.edu	37	8	122626809	122626809	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:122626809C>T	ENST00000303924.4	-	4	1736	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	400						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AATTTTACCCCGGTAGAAGAG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													123	119	120			NA	NA	8		NA											NA				122626809		2203	4300	6503	SO:0001583	missense			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	3037	3037	2.4.1.212	Glycosyltransferase family 2 domain containing	4819	protein-coding gene	gene with protein product		601636			NA	9169154	Standard	NM_005328	NM_005328	NA	Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1199G>A	8.37:g.122626809C>T	ENSP00000306991:p.Arg400Gln	NA	Q32MM3	37	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837061	0.32421	.	.	ENSG00000170961	ENST00000303924	T	0.59083	0.29	6.04	6.04	0.98038	.	0.096875	0.64402	N	0.000001	T	0.48114	0.1482	L	0.37630	1.12	0.50171	D	0.999857	B	0.19583	0.037	B	0.19666	0.026	T	0.48186	-0.9057	10	0.02654	T	1	-10.3761	20.5792	0.99380	0.0:1.0:0.0:0.0	.	400	Q92819	HAS2_HUMAN	Q	400	ENSP00000306991:R400Q	ENSP00000306991:R400Q	R	-	2	0	HAS2	122695990	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.848000	0.55903	2.873000	0.98535	0.561000	0.74099	CGG	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381150.2		-	ENST00000303924.4	Missense_Mutation	SNP	8 : 122626809 - 122626809 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	870	138
HIST3H2BB	128312	broad.mit.edu	37	1	228646127	228646127	+	Silent	SNP	T	T	G	rs145799075	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:228646127T>G	ENST00000369160.2	+	1	320	c.297T>G	c.(295-297)gtT>gtG	p.V99V		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	99					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				AGACGGCCGTTCGCCTGCTGC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		3,4403		0,3,2200	57	56	56		297	3.9	1	1	dbSNP_134	56	0,8600		0,0,4300	no	coding-synonymous	HIST3H2BB	NM_175055.2		0,3,6500	GG,GT,TT	NA	0.0,0.0681,0.0231		99/127	228646127	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890	128312	128312		Histones / Replication-dependent	20514	protein-coding gene	gene with protein product		615046	histone 3, H2bb		NA	12408966	Standard	NM_175055	NM_175055	NA	Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.297T>G	1.37:g.228646127T>G		NA	A4FU05|Q3ZCP6|Q5TA30	37	CCDS1574.1																																																																																			HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096597.1		+	ENST00000369160.2	Silent	SNP	1 : 228646127 - 228646127 G PAAD-TCGA-RB-A7B8-Tumor-SM-54377	486	7
HMHA1	23526	broad.mit.edu	37	19	1073163	1073163	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:1073163G>A	ENST00000586866.1	+	3	524	c.449G>A	c.(448-450)cGc>cAc	p.R150H	HMHA1_ENST00000539243.2_Missense_Mutation_p.R162H|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000590214.1_Missense_Mutation_p.R173H|HMHA1_ENST00000543365.1_Missense_Mutation_p.R29H|HMHA1_ENST00000592335.1_Missense_Mutation_p.A27T|HMHA1_ENST00000313093.2_Missense_Mutation_p.R146H			Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	146					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGAGGCCCGCCGCCCGCGG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	45	43			NA	NA	19		NA											NA				1073163		2199	4295	6494	SO:0001583	missense			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448	23526	23526		Rho GTPase activating proteins	17102	protein-coding gene	gene with protein product		601155			NA	9820596, 9039502	Standard		NM_012292	NA	Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000586866.1:c.449G>A	19.37:g.1073163G>A	ENSP00000468615:p.Arg150His	NA	Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	37		.	.	.	.	.	.	.	.	.	.	G	13.40	2.225757	0.39300	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000412039;ENST00000543365	T;T;T	0.25085	1.96;1.96;1.82	4.16	4.16	0.48862	.	0.068586	0.64402	D	0.000017	T	0.43100	0.1232	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	P;D;P	0.68765	0.878;0.96;0.862	T	0.27054	-1.0085	10	0.45353	T	0.12	-29.6413	9.9138	0.41421	0.1043:0.0:0.8957:0.0	.	162;29;146	F6QP70;F5H1R4;Q92619	.;.;HMHA1_HUMAN	H	162;146;146;140;29	ENSP00000439601:R162H;ENSP00000316772:R146H;ENSP00000438979:R29H	ENSP00000316772:R146H	R	+	2	0	HMHA1	1024163	1.000000	0.71417	0.997000	0.53966	0.498000	0.33706	3.603000	0.54074	1.855000	0.53841	0.491000	0.48974	CGC	HMHA1-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458031.2		+	ENST00000586866.1	Missense_Mutation	SNP	19 : 1073163 - 1073163 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	623	7
IGDCC3	9543	broad.mit.edu	37	15	65622967	65622967	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:65622967G>A	ENST00000327987.4	-	10	1925	c.1674C>T	c.(1672-1674)taC>taT	p.Y558Y		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	558	Fibronectin type-III 2.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGCTGGGCGGTAAAACAGCT	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	77	76			NA	NA	15		NA											NA				65622967		2201	4299	6500	SO:0001819	synonymous_variant			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498	9543	9543		Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	9700	protein-coding gene	gene with protein product		604184	putative neuronal cell adhesion molecule	PUNC	NA	9922388	Standard	NM_004884	NM_004884	NA	Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1674C>T	15.37:g.65622967G>A		NA	O95215	37	CCDS10205.1																																																																																			IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256826.1		-	ENST00000327987.4	Silent	SNP	15 : 65622967 - 65622967 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	417	5
IGSF1	3547	broad.mit.edu	37	X	130411143	130411143	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:130411143G>A	ENST00000370904.1	-	20	3261	c.2351C>T	c.(2350-2352)gCc>gTc	p.A784V	IGSF1_ENST00000370903.3_Missense_Mutation_p.A798V|IGSF1_ENST00000370910.1_Missense_Mutation_p.A784V|IGSF1_ENST00000361420.3_Missense_Mutation_p.A793V|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	793	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTCACTCGGGCACCAGGGGT	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	74	71			NA	NA	X		NA											NA				130411143		2203	4300	6503	SO:0001583	missense			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255	3547	3547		Immunoglobulin superfamily / Immunoglobulin-like domain containing	5948	protein-coding gene	gene with protein product		300137			NA	9521868, 9729118	Standard		NM_001555	NA	Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000370904.1:c.2351C>T	X.37:g.130411143G>A	ENSP00000359941:p.Ala784Val	NA	B5MEG2|O15070|Q9NTC8	37	CCDS55490.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.674954	0.47781	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	5.39	3.49	0.39957	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.736301	0.11696	N	0.538458	T	0.07279	0.0184	N	0.08118	0	0.20873	N	0.99984	B;B;B	0.26318	0.001;0.146;0.09	B;B;B	0.32289	0.019;0.143;0.089	T	0.36720	-0.9736	10	0.62326	D	0.03	.	9.5806	0.39486	0.0:0.0:0.6207:0.3793	.	784;237;793	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	V	784;793;784;798	ENSP00000359947:A784V;ENSP00000355010:A793V;ENSP00000359941:A784V;ENSP00000359940:A798V	ENSP00000355010:A793V	A	-	2	0	IGSF1	130238824	0.790000	0.28787	1.000000	0.80357	0.962000	0.63368	1.033000	0.30191	1.156000	0.42514	-0.222000	0.12452	GCC	IGSF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058286.1		-	ENST00000370904.1	Missense_Mutation	SNP	X : 130411143 - 130411143 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	889	7
IL1F10	84639	broad.mit.edu	37	2	113832336	113832336	+	Missense_Mutation	SNP	G	G	A	rs142851873		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:113832336G>A	ENST00000393197.2	+	3	576	c.155G>A	c.(154-156)cGc>cAc	p.R52H	IL1F10_ENST00000341010.2_Missense_Mutation_p.R52H|IL1F10_ENST00000337569.3_Missense_Mutation_p.R52H	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	52						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						GGCTTGGCCCGCACCAAGGTC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	87	89	88		155,155	3.1	0.9	2	dbSNP_134	88	0,8600		0,0,4300	no	missense,missense	IL1F10	NM_032556.5,NM_173161.2	29,29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	52/153,52/153	113832336	1,13005	2203	4300	6503	SO:0001583	missense			AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697	84639	84639		Interleukins and interleukin receptors	15552	protein-coding gene	gene with protein product	FIL1- theta, interleukin-1 receptor antagonist FKSG75	615296			NA	11747621, 11991723, 11991722	Standard	NM_173161	NM_173161	NA	Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.155G>A	2.37:g.113832336G>A	ENSP00000376893:p.Arg52His	NA	Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	37	CCDS2112.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650541	0.67472	2.27E-4	0.0	ENSG00000136697	ENST00000341010;ENST00000337569;ENST00000393197	T;T;T	0.17213	2.29;2.29;2.29	5.1	3.14	0.36123	.	0.282328	0.39083	N	0.001480	T	0.31009	0.0783	M	0.65975	2.015	0.34077	D	0.659159	D;B	0.76494	0.999;0.073	D;B	0.63113	0.911;0.013	T	0.41822	-0.9487	10	0.45353	T	0.12	-7.7042	6.8927	0.24238	0.0958:0.1753:0.729:0.0	.	52;52	Q8WWZ1-2;Q8WWZ1	.;IL1FA_HUMAN	H	52	ENSP00000341794:R52H;ENSP00000338418:R52H;ENSP00000376893:R52H	ENSP00000338418:R52H	R	+	2	0	IL1F10	113548807	0.612000	0.27000	0.925000	0.36789	0.844000	0.47949	1.084000	0.30828	1.275000	0.44379	0.655000	0.94253	CGC	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000330725.1		+	ENST00000393197.2	Missense_Mutation	SNP	2 : 113832336 - 113832336 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	589	6
ITGA4	3676	broad.mit.edu	37	2	182360534	182360534	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:182360534C>T	ENST00000397033.2	+	14	1840	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	470					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAATTGTTGACGCTTCTTTAA	0.358		NA											C	1	5e-04	NA	NA	2184	0.0017	0.9998	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8407	LOWCOV	NA	NA	7e-04	SNP								NA				0													127	115	119			NA	NA	2		NA											NA				182360534		1879	4112	5991	SO:0001819	synonymous_variant				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232	3676	3676		CD molecules, Integrins	6140	protein-coding gene	gene with protein product		192975		CD49D	NA	1537388	Standard		NM_000885	NA	Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1410C>T	2.37:g.182360534C>T		NA	D3DPG4	37	CCDS42788.1																																																																																			ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334427.1		+	ENST00000397033.2	Silent	SNP	2 : 182360534 - 182360534 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	458	63
JAG1	182	broad.mit.edu	37	20	10621878	10621878	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr20:10621878C>T	ENST00000254958.5	-	24	3446	c.2931G>A	c.(2929-2931)gaG>gaA	p.E977E	JAG1_ENST00000423891.2_Silent_p.E818E	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	977					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGCAAATGTGCTCCGTAGTAA	0.408		NA							Alagille Syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	83	83			NA	NA	20		NA											NA				10621878		2203	4300	6503	SO:0001819	synonymous_variant	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384	182	182		CD molecules	6188	protein-coding gene	gene with protein product		601920	Alagille syndrome	AGS, JAGL1	NA	7697721, 9207788	Standard	NM_000214	NM_000214	NA	Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2931G>A	20.37:g.10621878C>T		NA	A0AV43|O14902|O15122|Q15816	37	CCDS13112.1																																																																																			JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding			-	ENST00000254958.5	Silent	SNP	20 : 10621878 - 10621878 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	361	46
KLHDC8A	55220	broad.mit.edu	37	1	205307704	205307704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:205307704G>A	ENST00000367156.3	-	8	1594	c.778C>T	c.(778-780)Cga>Tga	p.R260*	KLHDC8A_ENST00000539253.1_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000537168.1_Nonsense_Mutation_p.R147*|KLHDC8A_ENST00000367155.3_Nonsense_Mutation_p.R260*|KLHDC8A_ENST00000460687.1_Nonsense_Mutation_p.R126*	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	260										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AAGAACGATCGTTCCATCTTC	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	82	85			NA	NA	1		NA											NA				205307704		2203	4300	6503	SO:0001587	stop_gained				CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873	55220	55220			25573	protein-coding gene	gene with protein product		614503			NA		Standard	NM_018203	NM_018203	NA	Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.778C>T	1.37:g.205307704G>A	ENSP00000356124:p.Arg260*	NA	B3KU70|Q9NVG5	37	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	G	38	6.698759	0.97772	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	.	.	.	5.62	5.62	0.85841	.	0.216018	0.49305	D	0.000149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-19.0544	19.2423	0.93888	0.0:0.0:1.0:0.0	.	.	.	.	X	260;260;260;147	.	ENSP00000356123:R260X	R	-	1	2	KLHDC8A	203574327	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	5.085000	0.64468	2.642000	0.89623	0.655000	0.94253	CGA	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090397.1		-	ENST00000367156.3	Nonsense_Mutation	SNP	1 : 205307704 - 205307704 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	566	92
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		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.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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 : 25398285 - 25398285 G PAAD-TCGA-RB-A7B8-Tumor-SM-54377	136	16
KRT6A	3853	broad.mit.edu	37	12	52881586	52881586	+	Missense_Mutation	SNP	C	C	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:52881586C>G	ENST00000330722.6	-	9	1681	c.1613G>C	c.(1612-1614)gGc>gCc	p.G538A		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	538	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGAGCTGAGGCCACCCCCAAT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	84	81			NA	NA	12		NA											NA				52881586		2203	4298	6501	SO:0001583	missense			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420	3853	3853		-, Intermediate filaments type II, keratins (basic)	6443	protein-coding gene	gene with protein product		148041	keratin 6C, keratin 6D	KRT6C, KRT6D	NA	1713141, 16831889	Standard	NM_005554	NM_005554	NA	Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1613G>C	12.37:g.52881586C>G	ENSP00000369317:p.Gly538Ala	NA	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	37	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	12.31	1.900672	0.33535	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.91124	-2.79	4.58	3.67	0.42095	.	0.000000	0.46758	D	0.000262	D	0.89536	0.6743	M	0.85542	2.76	0.30471	N	0.773342	B	0.29378	0.243	B	0.28991	0.097	T	0.82906	-0.0225	10	0.13108	T	0.6	.	12.0413	0.53454	0.0:0.8481:0.0:0.1519	.	538	P02538	K2C6A_HUMAN	A	538;494	ENSP00000369317:G538A	ENSP00000369317:G538A	G	-	2	0	KRT6A	51167853	0.213000	0.23551	0.995000	0.50966	0.991000	0.79684	3.180000	0.50895	1.206000	0.43276	0.650000	0.86243	GGC	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000404978.2		-	ENST00000330722.6	Missense_Mutation	SNP	12 : 52881586 - 52881586 G PAAD-TCGA-RB-A7B8-Tumor-SM-54377	569	5
LCT	3938	broad.mit.edu	37	2	136575286	136575286	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:136575286G>A	ENST00000264162.2	-	6	1342	c.1332C>T	c.(1330-1332)tgC>tgT	p.C444C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	444	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCGGAGGCCGCAAAGCAGGG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4406		0,0,2203	69	65	66		1332	-11.5	0	2		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LCT	NM_002299.2		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		444/1928	136575286	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3938	3938	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202			NA		Standard	NM_002299	NM_002299	NA	Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1332C>T	2.37:g.136575286G>A		NA	Q4ZG58	37	CCDS2178.1																																																																																			LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254657.1		-	ENST00000264162.2	Silent	SNP	2 : 136575286 - 136575286 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	491	8
LRRC28	123355	broad.mit.edu	37	15	99874263	99874263	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:99874263G>A	ENST00000331450.5	+	4	485				LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000422500.2_Intron|LRRC28_ENST00000301981.3_Missense_Mutation_p.R174H|LRRC28_ENST00000447360.2_Missense_Mutation_p.R174H|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000442993.2_Silent_p.A142A			Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	NA										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TATGTGCCGCGCCATCTCTGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													146	124	131			NA	NA	15		NA											NA				99874263		2197	4297	6494	SO:0001627	intron_variant			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904	123355	123355			28355	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_144598	XM_005254861	NA	Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000331450.5:c.210-51972G>A	15.37:g.99874263G>A		NA	A8KA22|Q6UY49|Q6ZSS6	37		.	.	.	.	.	.	.	.	.	.	G	29.9	5.047388	0.93740	.	.	ENSG00000168904	ENST00000301981;ENST00000447360	T;T	0.29655	1.56;1.56	5.83	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	L	0.59436	1.845	0.80722	D	1	D;B	0.89917	1.0;0.027	D;B	0.79784	0.993;0.007	T	0.42172	-0.9467	10	0.48119	T	0.1	.	14.4478	0.67364	0.0716:0.0:0.9284:0.0	.	174;174	Q86X40-2;Q86X40	.;LRC28_HUMAN	H	174	ENSP00000304923:R174H;ENSP00000404520:R174H	ENSP00000304923:R174H	R	+	2	0	LRRC28	97691786	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.304000	0.78882	2.775000	0.95449	0.585000	0.79938	CGC	LRRC28-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415753.1		+	ENST00000331450.5	Intron	SNP	15 : 99874263 - 99874263 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	523	7
MAGEC2	51438	broad.mit.edu	37	X	141291654	141291654	+	Silent	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chrX:141291654G>T	ENST00000247452.3	-	3	467	c.120C>A	c.(118-120)tcC>tcA	p.S40S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	40	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGGCGGAGGAGGCTTCCT	0.522		NA								HNSCC(46;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	117	117			NA	NA	X		NA											NA				141291654		2203	4300	6503	SO:0001819	synonymous_variant			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774	51438	51438			13574	protein-coding gene	gene with protein product	cancer/testis antigen 10	300468	melanoma antigen, family E, 1, cancer/testis specific	MAGEE1	NA	10699956	Standard	NM_016249	NM_016249	NA	Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.120C>A	X.37:g.141291654G>T		NA	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	37	CCDS14678.1																																																																																			MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058611.1		-	ENST00000247452.3	Silent	SNP	X : 141291654 - 141291654 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	793	53
MELK	9833	broad.mit.edu	37	9	36665452	36665452	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:36665452A>G	ENST00000298048.2	+	14	1466	c.1282A>G	c.(1282-1284)Act>Gct	p.T428A	MELK_ENST00000543751.1_Missense_Mutation_p.T396A|MELK_ENST00000536987.1_Missense_Mutation_p.T297A|MELK_ENST00000545008.1_Missense_Mutation_p.T357A|MELK_ENST00000538311.1_Missense_Mutation_p.T234A|MELK_ENST00000536329.1_Missense_Mutation_p.T357A|MELK_ENST00000536860.1_Missense_Mutation_p.T380A|MELK_ENST00000541717.1_Missense_Mutation_p.T387A	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	428						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			AAATGTATATACTCCTAAGTC	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(82;980 1317 7225 14391 18624)							NA				0													82	84	83			NA	NA	9		NA											NA				36665452		2203	4299	6502	SO:0001583	missense			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304	9833	9833			16870	protein-coding gene	gene with protein product		607025			NA	8724849, 9136115	Standard	NM_014791	NM_001256689	NA	Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1282A>G	9.37:g.36665452A>G	ENSP00000298048:p.Thr428Ala	NA	B1AMQ6|D3DRP8|Q7L3C3	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.722290	0.30503	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.71222	-0.37;0.61;0.41;0.94;0.32;-0.55;-0.37;-0.37	5.65	5.65	0.86999	.	0.373797	0.33110	N	0.005277	T	0.64305	0.2586	L	0.54323	1.7	0.30079	N	0.809352	B;B;B;B;B;B;B	0.22276	0.001;0.015;0.002;0.001;0.014;0.067;0.001	B;B;B;B;B;B;B	0.20767	0.002;0.007;0.011;0.006;0.021;0.031;0.002	T	0.58470	-0.7631	10	0.15499	T	0.54	-1.347	13.825	0.63346	1.0:0.0:0.0:0.0	.	348;357;380;387;357;396;428	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	A	428;234;297;357;380;357;387;396	ENSP00000298048:T428A;ENSP00000438226:T234A;ENSP00000439184:T297A;ENSP00000445452:T357A;ENSP00000439792:T380A;ENSP00000443550:T357A;ENSP00000437804:T387A;ENSP00000441596:T396A	ENSP00000298048:T428A	T	+	1	0	MELK	36655452	0.976000	0.34144	0.997000	0.53966	0.749000	0.42624	3.706000	0.54830	2.146000	0.66826	0.528000	0.53228	ACT	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052428.3		+	ENST00000298048.2	Missense_Mutation	SNP	9 : 36665452 - 36665452 G PAAD-TCGA-RB-A7B8-Tumor-SM-54377	440	71
MUC21	394263	broad.mit.edu	37	6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:30954349A>G	ENST00000486149.2	+	0	780				MUC21_ENST00000376296.3_Missense_Mutation_p.S133G			Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	NA						integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	154	158			NA	NA	6		NA											NA				30954349		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544	394263	394263		Mucins	21661	protein-coding gene	gene with protein product	epiglycanin		chromosome 6 open reading frame 205	C6orf205	NA	17977904	Standard	NM_001010909	NM_001010909	NA	Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000486149.2:c.-966A>G	6.37:g.30954349A>G		NA	B0UZT7|B4DQ55|C9JMK2|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	37		.	.	.	.	.	.	.	.	.	.	A	13.25	2.181861	0.38511	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02369	4.32	3.56	0.787	0.18596	.	.	.	.	.	T	0.00666	0.0022	L	0.27053	0.805	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.46789	-0.9166	8	.	.	.	-0.1118	4.2711	0.10787	0.7116:0.0:0.1109:0.1775	.	133	Q5SSG8	MUC21_HUMAN	G	133	ENSP00000365473:S133G	.	S	+	1	0	MUC21	31062328	0.000000	0.05858	0.004000	0.12327	0.164000	0.22412	0.014000	0.13333	0.527000	0.28560	0.397000	0.26171	AGC	MUC21-002	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000128457.3		+	ENST00000486149.2	5'UTR	SNP	6 : 30954349 - 30954349 G PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1332	7
MUC5AC	4586	broad.mit.edu	37	11	1155679	1155679	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:1155679C>T	ENST00000356191.2	+	5	365	c.365C>T	c.(364-366)aCg>aTg	p.T122M						mucin 5AC, oligomeric mucus/gel-forming	NA										NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CATCCAGCTACGCCGCAGCCA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	24	24			NA	NA	11		NA											NA				1155679		874	1988	2862	SO:0001583	missense			AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182	4586	4586		Mucins	7515	protein-coding gene	gene with protein product		158373	mucin 5, subtypes A and C, tracheobronchial/gastric		NA	7826332, 9588204	Standard	XM_001130382	XM_006709945	NA	Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.365C>T	11.37:g.1155679C>T	ENSP00000348519:p.Thr122Met	NA		37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.426|2.426	-0.332055|-0.332055	0.05314|0.05314	.|.	.|.	ENSG00000215182|ENSG00000215182	ENST00000534821|ENST00000356191	T|T	0.60920|0.17054	0.15|2.3	3.46|3.46	2.43|2.43	0.29744|0.29744	.|.	.|.	.|.	.|.	.|.	T|T	0.43765|0.43765	0.1262|0.1262	M|M	0.91406|0.91406	3.205|3.205	.|.	.|.	.|.	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.65100|0.65100	-0.6250|-0.6250	8|6	0.87932|0.56958	D|D	0|0.05	.|.	12.3114|12.3114	0.54929|0.54929	0.2279:0.7721:0.0:0.0|0.2279:0.7721:0.0:0.0	.|.	123|.	A7Y9J9|.	.|.	C|M	123|122	ENSP00000435591:R123C|ENSP00000348519:T122M	ENSP00000435591:R123C|ENSP00000348519:T122M	R|T	+|+	1|2	0|0	MUC5AC|MUC5AC	1145679|1145679	0.495000|0.495000	0.26051|0.26051	0.837000|0.837000	0.33122|0.33122	0.059000|0.059000	0.15707|0.15707	0.877000|0.877000	0.28106|0.28106	1.917000|1.917000	0.55516|0.55516	0.443000|0.443000	0.29094|0.29094	CGC|ACG	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding			+	ENST00000356191.2	Missense_Mutation	SNP	11 : 1155679 - 1155679 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	150	18
MYEOV	26579	broad.mit.edu	37	11	69063478	69063478	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:69063478G>A	ENST00000535407.1	+	2	1030	c.387G>A	c.(385-387)cgG>cgA	p.R129R	MYEOV_ENST00000441339.2_Silent_p.R187R|MYEOV_ENST00000308946.3_Silent_p.R187R			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	187										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGCATGGGCGGCATGGGCTCT	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													151	142	145			NA	NA	11		NA											NA				69063478		2200	4294	6494	SO:0001819	synonymous_variant			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927	26579	26579			7563	protein-coding gene	gene with protein product		605625	myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)		NA	10753852	Standard		XM_005273908	NA	Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000535407.1:c.387G>A	11.37:g.69063478G>A		NA	Q9UGN6|Q9UGN7	37																																																																																				MYEOV-001	PUTATIVE	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000396549.1		+	ENST00000535407.1	Silent	SNP	11 : 69063478 - 69063478 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	814	6
MYLK	4638	broad.mit.edu	37	3	123428605	123428605	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:123428605G>A	ENST00000360772.3	-	15	2318	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	MYLK_ENST00000346322.5_Missense_Mutation_p.S578L|MYLK_ENST00000360304.3_Missense_Mutation_p.S647L|MYLK_ENST00000359169.1_Missense_Mutation_p.S647L|MYLK_ENST00000475616.1_Missense_Mutation_p.S647L			Q15746	MYLK_HUMAN	myosin light chain kinase	647	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGACAGACCTGACACTTGGAC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													245	262	256			NA	NA	3		NA											NA				123428605		2203	4300	6503	SO:0001583	missense			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	4638	4638	2.7.11.18	Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7590	protein-coding gene	gene with protein product	smooth muscle myosin light chain kinase	600922	myosin, light polypeptide kinase		NA	8575746	Standard	NM_053025	NM_053026	NA	Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000360772.3:c.1940C>T	3.37:g.123428605G>A	ENSP00000354004:p.Ser647Leu	NA	O95796|O95797|O95798|O95799|Q14844|Q16794|Q5MY99|Q5MYA0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UIT9	37	CCDS3023.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887908	0.91814	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70675	0.3251	L	0.28649	0.875	0.80722	D	1	P;B;D;P;P	0.55172	0.944;0.355;0.97;0.858;0.955	P;B;P;P;P	0.60541	0.804;0.171;0.804;0.491;0.876	T	0.66806	-0.5830	9	0.27082	T	0.32	.	18.5896	0.91204	0.0:0.0:1.0:0.0	.	647;578;647;578;647	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	L	647;647;647;578;647	ENSP00000354004:S647L;ENSP00000353452:S647L;ENSP00000352088:S647L;ENSP00000320622:S578L;ENSP00000418335:S647L	ENSP00000320622:S578L	S	-	2	0	MYLK	124911295	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.742000	0.68646	2.622000	0.88805	0.650000	0.86243	TCA	MYLK-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280599.2		-	ENST00000360772.3	Missense_Mutation	SNP	3 : 123428605 - 123428605 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	2011	19
MYOC	4653	broad.mit.edu	37	1	171605766	171605766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:171605766G>A	ENST00000037502.6	-	3	885	c.814C>T	c.(814-816)Cga>Tga	p.R272*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	NA	Olfactomedin-like.		R -> G (in GLC1A; could be a polymorphism).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.R272*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTGGGGTCTCGCATCCACACA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Nonsense(1)	endometrium(1)	GRCh37	CM005409	MYOC	M		G	stop/ARG	0,4406		0,0,2203	94	95	95		814	-1.1	1	1		95	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	MYOC	NM_000261.1		0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077		272/505	171605766	1,13005	2203	4300	6503	SO:0001587	stop_gained			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971	4653	4653			7610	protein-coding gene	gene with protein product		601652		GLC1A	NA	9169133, 9005853	Standard	NM_000261	NM_000261	NA	Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.814C>T	1.37:g.171605766G>A	ENSP00000037502:p.Arg272*	NA	B2RD84|O00620|Q7Z6Q9	37	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908515	0.92107	0.0	1.16E-4	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	.	.	.	5.76	-1.13	0.09775	.	0.139314	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	16.4257	0.83814	0.0:0.0:0.6471:0.3529	.	.	.	.	X	272;225;205;272	.	ENSP00000037502:R272X	R	-	1	2	MYOC	169872389	1.000000	0.71417	0.991000	0.47740	0.951000	0.60555	1.127000	0.31357	-0.445000	0.07159	0.555000	0.69702	CGA	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084178.2		-	ENST00000037502.6	Nonsense_Mutation	SNP	1 : 171605766 - 171605766 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	552	7
NFE2L1	4779	broad.mit.edu	37	17	46136986	46136986	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:46136986A>G	ENST00000361665.3	+	6	2873	c.2269A>G	c.(2269-2271)Aag>Gag	p.K757E	NFE2L1_ENST00000582155.1_Missense_Mutation_p.K580E|NFE2L1_ENST00000357480.5_Missense_Mutation_p.K738E|NFE2L1_ENST00000583378.1_Missense_Mutation_p.K569E|NFE2L1_ENST00000362042.3_Missense_Mutation_p.K768E|NFE2L1_ENST00000536222.1_Missense_Mutation_p.K612E|NFE2L1_ENST00000585291.1_Missense_Mutation_p.K738E			Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	768					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGAAGCCAAAGGACCGGAG	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	27	26			NA	NA	17		NA											NA				46136986		2203	4298	6501	SO:0001583	missense			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641	4779	4779		basic leucine zipper proteins	7781	protein-coding gene	gene with protein product		163260	nuclear factor (erythroid-derived 2)-like 1	TCF11	NA	8248256, 9501099	Standard	NM_003204	NM_003204	NA	Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000361665.3:c.2269A>G	17.37:g.46136986A>G	ENSP00000355190:p.Lys757Glu	NA	D3DTU3|D3DTU5|Q12877|Q96FN6	37		.	.	.	.	.	.	.	.	.	.	A	18.91	3.723743	0.68959	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.29142	1.9;1.58	5.89	5.89	0.94794	.	0.220853	0.48767	D	0.000174	T	0.47655	0.1457	L	0.43923	1.385	0.54753	D	0.999983	D;D;D;D	0.71674	0.994;0.989;0.958;0.998	P;P;P;D	0.75484	0.885;0.709;0.827;0.986	T	0.44847	-0.9301	10	0.66056	D	0.02	-12.13	13.8341	0.63400	1.0:0.0:0.0:0.0	.	612;580;738;768	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	E	787;768;738;612	ENSP00000350072:K738E;ENSP00000445811:K612E	ENSP00000350072:K738E	K	+	1	0	NFE2L1	43491985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.390000	0.79816	2.257000	0.74773	0.460000	0.39030	AAG	NFE2L1-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000443024.1		+	ENST00000361665.3	Missense_Mutation	SNP	17 : 46136986 - 46136986 G PAAD-TCGA-RB-A7B8-Tumor-SM-54377	233	16
NPAS2	4862	broad.mit.edu	37	2	101592029	101592029	+	Splice_Site	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:101592029G>A	ENST00000335681.5	+	14	1677	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	NPAS2_ENST00000542504.1_Splice_Site_p.P529P|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	464					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACCATGCCGGTAAGTGTGT	0.622		NA											G	1	5e-04	0.002	NA	2184	NA	1	,	,	NA	2e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	3e-04	SNP								NA				0													65	62	63			NA	NA	2		NA											NA				101592029		2203	4300	6503	SO:0001630	splice_region_variant			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485	4862	4862		Basic helix-loop-helix proteins	7895	protein-coding gene	gene with protein product		603347			NA	9012850, 9079689	Standard		NM_002518	NA	Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1392+1G>A	2.37:g.101592029G>A		NA	Q4ZFV9|Q53SQ3|Q86V96|Q99629	37	CCDS2048.1																																																																																			NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253168.3	Silent	+	ENST00000335681.5	Splice_Site	SNP	2 : 101592029 - 101592029 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	502	6
NPRL3	8131	broad.mit.edu	37	16	148217	148217	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:148217G>A	ENST00000405960.3	-	0	1135				NPRL3_ENST00000399951.3_Missense_Mutation_p.R105W|NPRL3_ENST00000399953.3_Missense_Mutation_p.R284W			Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	NA							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						TTGATCACCCGCACTAGGGCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	78	76			NA	NA	16		NA											NA				148217		2110	4229	6339	SO:0001623	5_prime_UTR_variant				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148	8131	8131			14124	protein-coding gene	gene with protein product	conserved gene telomeric to alpha globin cluster	600928	chromosome 16 open reading frame 35	C16orf35	NA	8575760	Standard	NM_001039476	NM_001243247	NA	Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000405960.3:c.-1745C>T	16.37:g.148217G>A		NA	D3DU40|Q1W6H0|Q4TT56|Q92469	37		.	.	.	.	.	.	.	.	.	.	G	22.4	4.285845	0.80803	.	.	ENSG00000103148	ENST00000399953;ENST00000262313;ENST00000399951	.	.	.	5.62	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.991;0.991	T	0.76884	-0.2794	8	0.87932	D	0	-9.7056	9.6359	0.39806	0.0:0.1118:0.6119:0.2763	.	206;259;259;284	B7Z220;Q4TT55;B7Z6Q0;Q12980	.;.;.;NPRL3_HUMAN	W	284;259;105	.	ENSP00000262313:R259W	R	-	1	2	NPRL3	88217	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.016000	0.57159	2.653000	0.90120	0.655000	0.94253	CGG	NPRL3-015	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000467385.1		-	ENST00000405960.3	5'UTR	SNP	16 : 148217 - 148217 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	413	6
NR2F2	7026	broad.mit.edu	37	15	96877325	96877325	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:96877325C>T	ENST00000394166.3	+	2	1852	c.463C>T	c.(463-465)Ccg>Tcg	p.P155S	NR2F2_ENST00000421109.2_Missense_Mutation_p.P22S|NR2F2_ENST00000453270.2_Missense_Mutation_p.P2S|NR2F2_ENST00000394171.2_Missense_Mutation_p.P2S	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	155	Interaction with ZFPM2 (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGGCAGGATGCCGCCGACCCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	69	69			NA	NA	15		NA											NA				96877325		2194	4296	6490	SO:0001583	missense			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551	7026	7026		Nuclear hormone receptors	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2	NA	8530078, 11544252	Standard		NM_021005	NA	Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.463C>T	15.37:g.96877325C>T	ENSP00000377721:p.Pro155Ser	NA	B6ZGU1|Q03754	37	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535017	0.64972	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	T;T;D;D	0.95821	0.54;0.54;-3.82;-3.82	4.97	4.97	0.65823	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	M	0.72353	2.195	0.80722	D	1	B;B	0.31009	0.009;0.303	B;B	0.31337	0.007;0.128	D	0.93746	0.7054	10	0.39692	T	0.17	.	18.2212	0.89902	0.0:1.0:0.0:0.0	.	155;22	P24468;Q3KQR7	COT2_HUMAN;.	S	22;155;2;2	ENSP00000401674:P22S;ENSP00000377721:P155S;ENSP00000377726:P2S;ENSP00000389853:P2S	ENSP00000377721:P155S	P	+	1	0	NR2F2	94678329	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.929000	0.70096	2.301000	0.77427	0.561000	0.74099	CCG	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313534.1		+	ENST00000394166.3	Missense_Mutation	SNP	15 : 96877325 - 96877325 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	855	7
NSD1	64324	broad.mit.edu	37	5	176687001	176687001	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:176687001C>T	ENST00000439151.2	+	14	5023	c.4978C>T	c.(4978-4980)Cgc>Tgc	p.R1660C	NSD1_ENST00000347982.4_Missense_Mutation_p.R1391C|NSD1_ENST00000354179.4_Missense_Mutation_p.R1391C|NSD1_ENST00000361032.4_Missense_Mutation_p.R1557C	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1660					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.R1660C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCGGTTGATGCGCTGTGTCCG	0.403		NA	T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - Missense(2)	prostate(2)											125	116	119			NA	NA	5		NA											NA				176687001		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671	64324	64324		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	14234	protein-coding gene	gene with protein product		606681	Sotos syndrome	STO	NA	9628876, 11896389	Standard	NM_172349	NM_022455	NA	Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4978C>T	5.37:g.176687001C>T	ENSP00000395929:p.Arg1660Cys	NA	Q96PD8|Q96RN7	37	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186012	0.78789	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	5.49	4.62	0.57501	Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000003	D	0.97561	0.9201	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.97715	1.0193	10	0.87932	D	0	.	9.6748	0.40034	0.1396:0.7892:0.0:0.0712	.	1391;1557;1660	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	C	1391;1660;1391;1557	ENSP00000346111:R1391C;ENSP00000395929:R1660C;ENSP00000343209:R1391C;ENSP00000354310:R1557C	ENSP00000343209:R1391C	R	+	1	0	NSD1	176619607	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.787000	0.62432	1.450000	0.47717	0.591000	0.81541	CGC	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253412.2		+	ENST00000439151.2	Missense_Mutation	SNP	5 : 176687001 - 176687001 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	593	6
NUP160	23279	broad.mit.edu	37	11	47861533	47861533	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:47861533T>C	ENST00000378460.2	-	4	656	c.610A>G	c.(610-612)Att>Gtt	p.I204V	NUP160_ENST00000530326.1_Missense_Mutation_p.I90V|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Missense_Mutation_p.I90V|NUP160_ENST00000526870.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	204					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACTGCTGGAATTAACTGATAG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	108	110			NA	NA	11		NA											NA				47861533		2201	4298	6499	SO:0001583	missense			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066	23279	23279			18017	protein-coding gene	gene with protein product		607614	nucleoporin 160kD		NA	11684705	Standard	NM_015231	NM_015231	NA	Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.610A>G	11.37:g.47861533T>C	ENSP00000367721:p.Ile204Val	NA	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	37	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236417	0.79800	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.44881	0.91;0.91;0.91	5.44	5.44	0.79542	.	0.052986	0.64402	D	0.000001	T	0.54029	0.1833	M	0.65975	2.015	0.80722	D	1	P	0.45126	0.851	P	0.51055	0.657	T	0.53563	-0.8421	10	0.39692	T	0.17	.	15.4885	0.75587	0.0:0.0:0.0:1.0	.	204	Q12769	NU160_HUMAN	V	204;90;90	ENSP00000367721:I204V;ENSP00000433590:I90V;ENSP00000432367:I90V	ENSP00000367721:I204V	I	-	1	0	NUP160	47818109	1.000000	0.71417	0.992000	0.48379	0.917000	0.54804	5.079000	0.64431	2.063000	0.61619	0.533000	0.62120	ATT	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390239.2		-	ENST00000378460.2	Missense_Mutation	SNP	11 : 47861533 - 47861533 C PAAD-TCGA-RB-A7B8-Tumor-SM-54377	559	87
OPA1	4976	broad.mit.edu	37	3	193366601	193366601	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:193366601A>C	ENST00000361908.3	+	20	2133	c.1899A>C	c.(1897-1899)aaA>aaC	p.K633N	OPA1_ENST00000361150.2_Missense_Mutation_p.K597N|OPA1_ENST00000361510.2_Missense_Mutation_p.K651N|OPA1_ENST00000361715.2_Missense_Mutation_p.K615N|OPA1_ENST00000361828.2_Missense_Mutation_p.K614N|OPA1_ENST00000392438.3_Missense_Mutation_p.K596N	NM_130836.2	NP_570849.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	596					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TATTTGAAAAAGCTAAAAATG	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	92	88			NA	NA	3		NA											NA				193366601		2202	4295	6497	SO:0001583	missense			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836	4976	4976			8140	protein-coding gene	gene with protein product	mitochondrial dynamin-like GTPase, dynamin-like guanosine triphosphatase, Dynamin-like 120 kDa protein, mitochondrial	605290			NA	9490303	Standard	NM_130837	NM_015560	NA	Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000361908.3:c.1899A>C	3.37:g.193366601A>C	ENSP00000354681:p.Lys633Asn	NA	D3DNW4	37	CCDS33917.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985177	0.74474	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.96041	-3.48;-3.47;-3.44;-3.46;-3.49;-3.89	6.08	-4.14	0.03892	.	0.000000	0.85682	D	0.000000	D	0.96207	0.8763	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.993;0.999;0.996;0.996;0.999;0.996;0.999;0.998	D;D;D;D;D;D;D;D	0.70487	0.933;0.922;0.969;0.969;0.942;0.969;0.941;0.969	D	0.94142	0.7398	10	0.56958	D	0.05	-27.0205	12.8665	0.57941	0.541:0.0:0.459:0.0	.	560;596;578;597;614;633;615;651	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	N	633;596;651;615;614;597	ENSP00000354681:K633N;ENSP00000376233:K596N;ENSP00000355324:K651N;ENSP00000355311:K615N;ENSP00000354429:K614N;ENSP00000354781:K597N	ENSP00000354781:K597N	K	+	3	2	OPA1	194849295	0.998000	0.40836	0.922000	0.36590	0.981000	0.71138	0.731000	0.26058	-1.012000	0.03387	-0.408000	0.06270	AAA	OPA1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000313811.2		+	ENST00000361908.3	Missense_Mutation	SNP	3 : 193366601 - 193366601 C PAAD-TCGA-RB-A7B8-Tumor-SM-54377	644	40
OR5T3	390154	broad.mit.edu	37	11	56020051	56020051	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:56020051G>A	ENST00000303059.3	+	1	376	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	171	171			NA	NA	11		NA											NA				56020051		2201	4295	6496	SO:0001583	missense			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489	390154	390154		GPCR / Class A : Olfactory receptors	15297	protein-coding gene	gene with protein product					NA		Standard	NM_001004747	NM_001004747	NA	Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.376G>A	11.37:g.56020051G>A	ENSP00000305403:p.Gly126Arg	NA	Q6IFC7	37	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.452159	0.26074	.	.	ENSG00000172489	ENST00000303059	T	0.09817	2.94	4.55	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.542212	0.15279	U	0.270784	T	0.24812	0.0602	M	0.69358	2.11	0.09310	N	1	D	0.62365	0.991	P	0.58660	0.843	T	0.04216	-1.0968	10	0.87932	D	0	.	11.1733	0.48584	0.0:0.1392:0.716:0.1448	.	126	Q8NGG3	OR5T3_HUMAN	R	126	ENSP00000305403:G126R	ENSP00000305403:G126R	G	+	1	0	OR5T3	55776627	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.613000	0.24299	0.603000	0.29913	-0.189000	0.12847	GGA	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391599.1		+	ENST00000303059.3	Missense_Mutation	SNP	11 : 56020051 - 56020051 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	777	5
OR8H2	390151	broad.mit.edu	37	11	55872750	55872750	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:55872750G>A	ENST00000313503.1	+	1	232	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCAACTGTCGTCACACCTAA	0.438		NA								HNSCC(53;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													248	248	248			NA	NA	11		NA											NA				55872750		2201	4293	6494	SO:0001583	missense			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767	390151	390151		GPCR / Class A : Olfactory receptors	15308	protein-coding gene	gene with protein product					NA		Standard	NM_001005200	NM_001005200	NA	Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.232G>A	11.37:g.55872750G>A	ENSP00000323982:p.Val78Ile	NA	Q6IFC1	37	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	0.053	-1.245473	0.01481	.	.	ENSG00000181767	ENST00000313503	T	0.01406	4.93	3.58	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.117869	0.38959	N	0.001502	T	0.00608	0.0020	N	0.03016	-0.435	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49123	-0.8972	10	0.02654	T	1	.	8.3388	0.32230	0.8257:0.0:0.1743:0.0	.	78	Q8N162	OR8H2_HUMAN	I	78	ENSP00000323982:V78I	ENSP00000323982:V78I	V	+	1	0	OR8H2	55629326	0.004000	0.15560	0.989000	0.46669	0.646000	0.38490	2.210000	0.42816	0.080000	0.16959	-0.573000	0.04149	GTC	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391540.1		+	ENST00000313503.1	Missense_Mutation	SNP	11 : 55872750 - 55872750 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1522	15
PALM2-AKAP2	445815	broad.mit.edu	37	9	112694261	112694261	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr9:112694261G>A	ENST00000374530.3	+	6	629	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	PALM2_ENST00000448454.2_Missense_Mutation_p.R152Q|PALM2_ENST00000483909.1_Intron|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R150Q|PALM2_ENST00000374531.2_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.R150Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R150Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.R150Q	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN	PALM2-AKAP2 readthrough	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTCTGTTCACGAACAGCAGAA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	136	131	133		,449,449,449	-5.9	0.7	9		133	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense	PALM2,PALM2-AKAP2	NM_001037293.2,NM_147150.2,NM_053016.5,NM_007203.4	,43,43,43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,benign,benign,benign	,150/1091,150/412,150/1104	112694261	1,13005	2203	4300	6503	SO:0001583	missense			AB023137	CCDS35100.1, CCDS35101.1	9q31.3	2010-02-17			ENSG00000157654	ENSG00000157654	445815	445815			33529	other	readthrough					NA	11478809	Standard		NM_147150	NA	Approved		uc004bej.4		OTTHUMG00000156812	ENST00000374530.3:c.449G>A	9.37:g.112694261G>A	ENSP00000363654:p.Arg150Gln	NA	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	37	CCDS35100.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347395	0.61183	0.0	1.16E-4	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000448454;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T	0.31510	2.32;2.32;1.49;2.29;2.32;2.29;2.29;2.29	6.17	-5.92	0.02261	.	1.309160	0.05762	N	0.605000	T	0.24890	0.0604	N	0.25647	0.755	0.26117	N	0.98061	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.0	T	0.36986	-0.9725	10	0.87932	D	0	4.8271	18.4642	0.90749	0.1085:0.7357:0.1558:0.0	.	150;150;152	Q9Y2D5-6;Q9Y2D5-4;D3YTA4	.;.;.	Q	152;150;136;150;150;150;150;150	ENSP00000400206:R152Q;ENSP00000323805:R150Q;ENSP00000419747:R136Q;ENSP00000363654:R150Q;ENSP00000397839:R150Q;ENSP00000305861:R150Q;ENSP00000451476:R150Q;ENSP00000421522:R150Q	ENSP00000305861:R150Q	R	+	2	0	PALM2-AKAP2;PALM2;AKAP2	111734082	0.586000	0.26782	0.720000	0.30636	0.943000	0.58893	-0.368000	0.07543	-0.736000	0.04831	-0.844000	0.03045	CGA	PALM2-AKAP2-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053603.1		+	ENST00000374530.3	Missense_Mutation	SNP	9 : 112694261 - 112694261 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	777	144
PCDH17	27253	broad.mit.edu	37	13	58208306	58208306	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:58208306C>T	ENST00000377918.3	+	1	1652	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	542	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTTTAACTTCGAGCAGACCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(72;952 1291 1619 12849 33676)							NA				0													48	47	47			NA	NA	13		NA											NA				58208306		2203	4300	6503	SO:0001819	synonymous_variant			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946	27253	27253		Cadherins / Protocadherins : Non-clustered	14267	protein-coding gene	gene with protein product		611760			NA	10835267	Standard	NM_001040429	NM_001040429	NA	Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1626C>T	13.37:g.58208306C>T		NA	A8K1R5|Q5VVW9|Q5VVX0	37	CCDS31986.1																																																																																			PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045139.1		+	ENST00000377918.3	Silent	SNP	13 : 58208306 - 58208306 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	309	10
PCDHA12	56137	broad.mit.edu	37	5	140257259	140257259	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:140257259G>A	ENST00000398631.2	+	1	2202	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1			protocadherin alpha 12	NA										NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCCGGGCAAGCCCA	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(113;759 1672 13322 24104 50104)							NA				0													28	28	28			NA	NA	5		NA											NA				140257259		2201	4300	6501	SO:0001819	synonymous_variant			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664	56137	56137		Cadherins / Protocadherins : Clustered	8666	other	complex locus constituent	KIAA0345-like 2	606318			NA	10380929	Standard	NM_018903	NM_018903	NA	Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2202G>A	5.37:g.140257259G>A		NA		37	CCDS47285.1																																																																																			PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372882.2		+	ENST00000398631.2	Silent	SNP	5 : 140257259 - 140257259 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	241	57
PCDHB11	56125	broad.mit.edu	37	5	140581503	140581503	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:140581503C>T	ENST00000354757.3	+	1	2156	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A354V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	719					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGGGCGGCCTCGGTG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	0,4406		0,0,2203	94	103	100		2156	0.7	0	5		100	2,8598	1.2+/-3.3	0,2,4298	no	missense	PCDHB11	NM_018931.2	64	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	benign	719/798	140581503	2,13004	2203	4300	6503	SO:0001583	missense			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479	56125	56125		Cadherins / Protocadherins : Clustered	8682	other	protocadherin	cadherin ME2	606337			NA	10380929	Standard	NM_018931	NM_018931	NA	Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2156C>T	5.37:g.140581503C>T	ENSP00000346802:p.Ala719Val	NA	Q2M223	37	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	12.20	1.867239	0.32977	0.0	2.33E-4	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.17528	2.27;2.27	2.77	0.731	0.18277	.	.	.	.	.	T	0.19846	0.0477	M	0.88031	2.925	0.09310	N	1	P	0.36599	0.56	B	0.22880	0.042	T	0.14952	-1.0454	9	0.72032	D	0.01	.	6.2507	0.20843	0.2201:0.5842:0.1957:0.0	.	719	Q9Y5F2	PCDBB_HUMAN	V	354;719	ENSP00000440344:A354V;ENSP00000346802:A719V	ENSP00000346802:A719V	A	+	2	0	PCDHB11	140561687	0.000000	0.05858	0.004000	0.12327	0.229000	0.25112	-0.444000	0.06854	0.020000	0.15106	0.549000	0.68633	GCG	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251813.1		+	ENST00000354757.3	Missense_Mutation	SNP	5 : 140581503 - 140581503 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1328	183
PGAM5	192111	broad.mit.edu	37	12	133294121	133294121	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:133294121C>A	ENST00000543955.1	+	3	884	c.20C>A	c.(19-21)aCc>aAc	p.T7N	PGAM5_ENST00000454808.2_Missense_Mutation_p.T7N|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000498926.2_Missense_Mutation_p.T156N|PGAM5_ENST00000317555.2_Missense_Mutation_p.T156N			Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	156						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GCCATAGAGACCACCGATATC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	62	60			NA	NA	12		NA											NA				133294121		2203	4299	6502	SO:0001583	missense			BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077	192111	192111			28763	protein-coding gene	gene with protein product		614939			NA	11283018	Standard	NM_138575	NM_001170543	NA	Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000543955.1:c.20C>A	12.37:g.133294121C>A	ENSP00000440372:p.Thr7Asn	NA	C9IZY7|Q96JB0	37		.	.	.	.	.	.	.	.	.	.	C	20.6	4.019366	0.75275	.	.	ENSG00000247077	ENST00000317555;ENST00000498926;ENST00000543955;ENST00000454808	T;D	0.88896	-0.78;-2.44	5.6	5.6	0.85130	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.97225	0.9093	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.98593	1.0655	10	0.87932	D	0	-3.1057	19.6338	0.95721	0.0:1.0:0.0:0.0	.	156;156	Q96HS1;Q96HS1-2	PGAM5_HUMAN;.	N	156;156;7;7	ENSP00000321503:T156N;ENSP00000438465:T156N	ENSP00000321503:T156N	T	+	2	0	PGAM5	131804194	1.000000	0.71417	0.978000	0.43139	0.113000	0.19764	7.255000	0.78338	2.636000	0.89361	0.591000	0.81541	ACC	PGAM5-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000397563.1		+	ENST00000543955.1	Missense_Mutation	SNP	12 : 133294121 - 133294121 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	265	32
PHACTR1	221692	broad.mit.edu	37	6	13206143	13206143	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:13206143C>A	ENST00000379350.1	+	7	890	c.761C>A	c.(760-762)cCa>cAa	p.P254Q	PHACTR1_ENST00000457702.2_Missense_Mutation_p.P109Q|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.P254Q			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	254						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GTGGGGGGGCCAGACCTCTCA	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	63	60			NA	NA	6		NA											NA				13206143		2015	4156	6171	SO:0001583	missense			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137	221692	221692		Phosphatase and actin regulators	20990	protein-coding gene	gene with protein product		608723	RPEL repeat containing 1	RPEL1	NA	11214970, 15107502	Standard	XM_166420	NM_030948	NA	Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.761C>A	6.37:g.13206143C>A	ENSP00000368655:p.Pro254Gln	NA	A8K1V2|Q3MJ93|Q5JSJ2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.984897|3.984897	0.74474|0.74474	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702|ENST00000415087	T;T;T|.	0.31510|.	1.49;1.53;1.52|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.598284|.	0.18257|.	N|.	0.146764|.	T|T	0.37489|0.37489	0.1005|0.1005	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;P;P|.	0.61697|.	0.99;0.838;0.899|.	P;B;B|.	0.58780|.	0.845;0.276;0.367|.	T|T	0.29119|0.29119	-1.0022|-1.0022	10|5	0.15499|.	T|.	0.54|.	-7.9901|-7.9901	17.722|17.722	0.88355|0.88355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	323;254;254|.	E7ESR5;Q9C0D0;Q9C0D0-2|.	.;PHAR1_HUMAN;.|.	Q|K	254;254;323;109|89	ENSP00000368655:P254Q;ENSP00000329880:P254Q;ENSP00000397669:P109Q|.	ENSP00000329880:P254Q|.	P|Q	+|+	2|1	0|0	PHACTR1|PHACTR1	13314122|13314122	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.973000|0.973000	0.67179|0.67179	3.146000|3.146000	0.50631|0.50631	2.653000|2.653000	0.90120|0.90120	0.561000|0.561000	0.74099|0.74099	CCA|CAG	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000039876.1		+	ENST00000379350.1	Missense_Mutation	SNP	6 : 13206143 - 13206143 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	499	93
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:178952072A>T	ENST00000263967.3	+	21	3284	c.3127A>T	c.(3127-3129)Atg>Ttg	p.M1043L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	phosphoinositide-3-kinase, catalytic, alpha polypeptide		E, O	22	Substitution - Missense(22)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)											97	87	91			NA	NA	3		NA											NA				178952072		1905	4126	6031	SO:0001583	missense				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	5290	5290	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	phosphoinositide-3-kinase, catalytic, alpha polypeptide		NA	1322797	Standard		NM_006218	NA	Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3127A>T	3.37:g.178952072A>T	ENSP00000263967:p.Met1043Leu	NA	Q14CW1|Q99762	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.313034	0.40895	.	.	ENSG00000121879	ENST00000263967	T	0.79845	-1.31	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	N	0.01761	-0.735	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.59674	-0.7410	10	0.46703	T	0.11	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	L	1043	ENSP00000263967:M1043L	ENSP00000263967:M1043L	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348409.2		+	ENST00000263967.3	Missense_Mutation	SNP	3 : 178952072 - 178952072 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	529	175
POSTN	10631	broad.mit.edu	37	13	38145544	38145544	+	Missense_Mutation	SNP	A	A	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr13:38145544A>T	ENST00000379747.4	-	18	2258	c.2141T>A	c.(2140-2142)aTt>aAt	p.I714N	POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379749.4_Missense_Mutation_p.I714N|POSTN_ENST00000541179.1_Missense_Mutation_p.I687N|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000379743.4_Missense_Mutation_p.I687N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	714					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACCTTCTTTAATCAGTCTGAA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													224	191	202			NA	NA	13		NA											NA				38145544		2203	4299	6502	SO:0001583	missense			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110	10631	10631			16953	protein-coding gene	gene with protein product		608777			NA	8363580, 12235007	Standard	NM_006475	NM_006475	NA	Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2141T>A	13.37:g.38145544A>T	ENSP00000369071:p.Ile714Asn	NA	Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	37	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444763	0.63178	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743	D;D;D;D	0.93712	-3.26;-3.13;-3.16;-3.27	5.49	1.61	0.23674	.	0.628327	0.15902	N	0.239022	D	0.91533	0.7326	L	0.36672	1.1	0.38885	D	0.956994	P;P;P	0.52692	0.523;0.955;0.93	B;P;P	0.54312	0.248;0.748;0.629	D	0.88467	0.3059	10	0.72032	D	0.01	-1.7243	6.9327	0.24449	0.74:0.1263:0.1337:0.0	.	687;687;714	B1ALD8;Q15063-3;Q15063	.;.;POSTN_HUMAN	N	687;714;714;687	ENSP00000437959:I687N;ENSP00000369073:I714N;ENSP00000369071:I714N;ENSP00000369067:I687N	ENSP00000369067:I687N	I	-	2	0	POSTN	37043544	0.980000	0.34600	0.107000	0.21349	0.993000	0.82548	2.741000	0.47426	0.108000	0.17862	0.477000	0.44152	ATT	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044566.2		-	ENST00000379747.4	Missense_Mutation	SNP	13 : 38145544 - 38145544 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	547	78
PPEF2	5470	broad.mit.edu	37	4	76811270	76811270	+	Missense_Mutation	SNP	C	C	T	rs112682717	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:76811270C>T	ENST00000286719.7	-	5	613	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	86					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.R86H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGTGAATATGCGGGTCAGGAA	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(105;1359 1603 15961 44567 47947)							NA				1	Substitution - Missense(1)	ovary(1)						C	HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	154	142	146		257	3.3	1	4	dbSNP_132	146	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PPEF2	NM_006239.2	29	0,11,6492	TT,TC,CC	NA	0.0116,0.227,0.0846	benign	86/754	76811270	11,12995	2203	4300	6503	SO:0001583	missense			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194	5470	5470		Serine/threonine phosphatases / Protein phosphatase, catalytic subunits, EF-hand domain containing	9244	protein-coding gene	gene with protein product	protein phosphatase 7, catalytic subunit, beta isozyme	602256			NA	9326663, 12051765	Standard	NM_006239	NM_006239	NA	Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.257G>A	4.37:g.76811270C>T	ENSP00000286719:p.Arg86His	NA	O14831	37	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	5.026	0.190443	0.09547	0.00227	1.16E-4	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.54866	0.55	5.07	3.33	0.38152	.	1.404560	0.04188	N	0.327755	T	0.42404	0.1201	L	0.27053	0.805	0.35716	D	0.816798	B;B	0.17465	0.02;0.022	B;B	0.15052	0.009;0.012	T	0.12941	-1.0528	10	0.23302	T	0.38	-0.3045	9.4751	0.38867	0.0:0.8244:0.0:0.1756	.	86;86	O14830-2;O14830	.;PPE2_HUMAN	H	86	ENSP00000286719:R86H	ENSP00000286719:R86H	R	-	2	0	PPEF2	77030294	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	2.004000	0.40854	0.540000	0.28808	0.313000	0.20887	CGC	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000362929.1		-	ENST00000286719.7	Missense_Mutation	SNP	4 : 76811270 - 76811270 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	417	5
PRPF8	10594	broad.mit.edu	37	17	1585571	1585571	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:1585571G>A	ENST00000572621.1	-	3	551	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	PRPF8_ENST00000304992.6_Missense_Mutation_p.P96S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	96						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACTGCGTGGGGCATGTACTTT	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													174	168	170			NA	NA	17		NA											NA				1585571		2203	4300	6503	SO:0001583	missense			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231	10594	10594			17340	protein-coding gene	gene with protein product		607300	PRP8 pre-mRNA processing factor 8 homolog (yeast), PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)	RP13	NA	11468273, 10411133	Standard		NM_006445	NA	Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.286C>T	17.37:g.1585571G>A	ENSP00000460348:p.Pro96Ser	NA	O14547|O75965	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656010	0.88056	.	.	ENSG00000174231	ENST00000304992	T	0.67698	-0.28	5.6	5.6	0.85130	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	D	0.86859	0.6034	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89501	0.3764	10	0.87932	D	0	.	19.616	0.95634	0.0:0.0:1.0:0.0	.	96	Q6P2Q9	PRP8_HUMAN	S	96	ENSP00000304350:P96S	ENSP00000304350:P96S	P	-	1	0	PRPF8	1532321	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.314000	0.96306	2.642000	0.89623	0.555000	0.69702	CCC	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000438412.2		-	ENST00000572621.1	Missense_Mutation	SNP	17 : 1585571 - 1585571 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	461	5
PRSS21	10942	broad.mit.edu	37	16	2871460	2871460	+	Missense_Mutation	SNP	C	C	T	rs146520280	byFrequency	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:2871460C>T	ENST00000450020.3	+	6	846	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	PRSS21_ENST00000455114.1_Missense_Mutation_p.R265W|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000005995.3_Missense_Mutation_p.R267W	NM_144957.2	NP_659206.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	267	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						TCGGCCCAATCGGCCCGGTGT	0.592		NA											c	14	0.01	0.03	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0.0064	1	LOWCOV,EXOME	NA	NA	4e-04	SNP								NA				0								C	TRP/ARG,TRP/ARG,TRP/ARG	54,4342	54.9+/-90.9	0,54,2144	73	78	76		799,793,757	1.9	0.6	16	dbSNP_134	76	0,8600		0,0,4300	yes	missense,missense,missense	PRSS21	NM_006799.2,NM_144956.1,NM_144957.1	101,101,101	0,54,6444	TT,TC,CC	NA	0.0,1.2284,0.4155	probably-damaging,probably-damaging,probably-damaging	267/315,265/313,253/301	2871460	54,12942	2198	4300	6498	SO:0001583	missense			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038	10942	10942		Serine peptidases / Serine peptidases	9485	protein-coding gene	gene with protein product		608159			NA	10397266, 9826525	Standard	NM_006799	NM_006799	NA	Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000450020.3:c.757C>T	16.37:g.2871460C>T	ENSP00000407741:p.Arg253Trp	NA	Q9NS34|Q9P2V6	37	CCDS45388.1	14	0.00641025641025641	14	0.028455284552845527	0	0.0	0	0.0	0	0.0	c	12.48	1.950839	0.34471	0.012284	0.0	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	D;D;D	0.89746	-2.56;-2.56;-2.56	3.96	1.92	0.25849	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.81992	0.4940	L	0.51853	1.615	0.19775	N	0.999955	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.991;0.991	T	0.77043	-0.2734	9	0.72032	D	0.01	.	10.2025	0.43094	0.3607:0.6393:0.0:0.0	.	267;265;253	Q9Y6M0;Q9Y6M0-2;Q9Y6M0-3	TEST_HUMAN;.;.	W	265;253;267	ENSP00000400632:R265W;ENSP00000407741:R253W;ENSP00000005995:R267W	ENSP00000005995:R267W	R	+	1	2	PRSS21	2811461	0.000000	0.05858	0.627000	0.29227	0.396000	0.30629	0.525000	0.22956	0.327000	0.23409	-0.333000	0.08304	CGG	PRSS21-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000436451.1		+	ENST00000450020.3	Missense_Mutation	SNP	16 : 2871460 - 2871460 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	319	14
PSMG4	389362	broad.mit.edu	37	6	3287312	3287312	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:3287312C>T	ENST00000451246.2	+	2	308				SLC22A23_ENST00000380302.4_Missense_Mutation_p.G162R|SLC22A23_ENST00000490273.1_Missense_Mutation_p.G162R|SLC22A23_ENST00000436008.2_Missense_Mutation_p.G443R|SLC22A23_ENST00000406686.3_Missense_Mutation_p.G443R			Q5JS54	PSMG4_HUMAN	proteasome (prosome, macropain) assembly chaperone 4	NA										endometrium(1)	1						TGGTGGATCCCGTACCCCGTC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	76	86			NA	NA	6		NA											NA				3287312		2203	4300	6503	SO:0001627	intron_variant				CCDS47360.1, CCDS47361.1, CCDS47362.1	6p25.2	2010-06-23	2008-02-25	2008-02-25	ENSG00000180822	ENSG00000180822	389362	389362			21108	protein-coding gene	gene with protein product			chromosome 6 open reading frame 86	C6orf86	NA	17707236	Standard		NM_001128591	NA	Approved	PAC4	uc010jnl.1	Q5JS54	OTTHUMG00000014142	ENST00000451246.2:c.228+4748C>T	6.37:g.3287312C>T		NA	Q5JS53|Q5JS56	37		.	.	.	.	.	.	.	.	.	.	C	26.6	4.754114	0.89843	.	.	ENSG00000137266	ENST00000436008;ENST00000406686;ENST00000380302;ENST00000490273;ENST00000485307;ENST00000467177	T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.4	4.4	0.53042	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.79936	0.4532	L	0.52011	1.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82043	-0.0653	10	0.62326	D	0.03	-24.5244	17.1854	0.86865	0.0:1.0:0.0:0.0	.	443;443	C9J4Z0;A1A5C7	.;S22AN_HUMAN	R	443;443;162;162;271;269	ENSP00000410245:G443R;ENSP00000385028:G443R;ENSP00000369657:G162R;ENSP00000419463:G162R;ENSP00000418134:G271R;ENSP00000418985:G269R	ENSP00000369657:G162R	G	-	1	0	SLC22A23	3232311	1.000000	0.71417	0.994000	0.49952	0.938000	0.57974	7.151000	0.77411	2.284000	0.76573	0.655000	0.94253	GGG	PSMG4-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367067.1		+	ENST00000451246.2	Intron	SNP	6 : 3287312 - 3287312 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	145	33
PTPN6	5777	broad.mit.edu	37	12	7060853	7060853	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:7060853G>A	ENST00000318974.9	+	2	334	c.90G>A	c.(88-90)cgG>cgA	p.R30R	PTPN6_ENST00000399448.1_Silent_p.R32R|PTPN6_ENST00000456013.1_Silent_p.R30R|PTPN6_ENST00000447931.2_Intron	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	30	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TCCTGGCTCGGCCCAGTCGCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	65	63			NA	NA	12		NA											NA				7060853		1957	4160	6117	SO:0001819	synonymous_variant				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679	5777	5777		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor, SH2 domain containing	9658	protein-coding gene	gene with protein product		176883			NA	1639416	Standard	NM_002831	NM_080548	NA	Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.90G>A	12.37:g.7060853G>A		NA	A8K306|Q969V8	37	CCDS44820.1																																																																																			PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000400023.1		+	ENST00000318974.9	Silent	SNP	12 : 7060853 - 7060853 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	598	6
RAB10	10890	broad.mit.edu	37	2	26257554	26257554	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:26257554T>C	ENST00000264710.4	+	1	576	c.77T>C	c.(76-78)cTt>cCt	p.L26P		NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	26					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGCGTCCTTTTTCGTTTT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	134	139			NA	NA	2		NA											NA				26257554		2203	4300	6503	SO:0001583	missense			AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733	10890	10890		RAB, member RAS oncogene	9759	protein-coding gene	gene with protein product	ras-related GTP-binding protein	612672			NA	7688123	Standard	NM_016131	NM_016131	NA	Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.77T>C	2.37:g.26257554T>C	ENSP00000264710:p.Leu26Pro	NA	D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	37	CCDS1720.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.284629	0.80803	.	.	ENSG00000084733	ENST00000264710	T	0.80909	-1.43	5.21	5.21	0.72293	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93245	0.7848	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95208	0.8323	10	0.87932	D	0	.	13.0672	0.59041	0.0:0.0:0.0:1.0	.	26	P61026	RAB10_HUMAN	P	26	ENSP00000264710:L26P	ENSP00000264710:L26P	L	+	2	0	RAB10	26111058	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.482000	0.81143	1.971000	0.57363	0.533000	0.62120	CTT	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211610.1		+	ENST00000264710.4	Missense_Mutation	SNP	2 : 26257554 - 26257554 C PAAD-TCGA-RB-A7B8-Tumor-SM-54377	616	5
RARRES3	5920	broad.mit.edu	37	11	63312120	63312120	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:63312120G>A	ENST00000439013.2	+	3	199	c.146G>A	c.(145-147)aGt>aAt	p.S49N	RARRES3_ENST00000255688.3_Missense_Mutation_p.S49N|RARRES3_ENST00000354445.2_Missense_Mutation_p.S49N|RARRES3_ENST00000537871.1_3'UTR			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	49					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GGCTCCTCCAGTGTCTTCTCA	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	138	135			NA	NA	11		NA											NA				63312120		1950	4144	6094	SO:0001583	missense				CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321	5920	5920			9869	protein-coding gene	gene with protein product		605092			NA	9270552	Standard		NM_004585	NA	Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000439013.2:c.146G>A	11.37:g.63312120G>A	ENSP00000402943:p.Ser49Asn	NA	B2R599|B4DDW2|E7ENZ7|O95200	37		.	.	.	.	.	.	.	.	.	.	G	13.93	2.385443	0.42308	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.24908	1.83;1.83;1.83	4.29	-3.33	0.04958	.	0.677062	0.13847	N	0.358591	T	0.26159	0.0638	M	0.87547	2.89	0.09310	N	1	B	0.25206	0.12	B	0.26094	0.066	T	0.40572	-0.9556	10	0.62326	D	0.03	.	1.3662	0.02202	0.301:0.276:0.2986:0.1245	.	49	Q9UL19	TIG3_HUMAN	N	49	ENSP00000402943:S49N;ENSP00000255688:S49N;ENSP00000346431:S49N	ENSP00000255688:S49N	S	+	2	0	RARRES3	63068696	0.977000	0.34250	0.000000	0.03702	0.008000	0.06430	1.927000	0.40094	-0.643000	0.05473	0.655000	0.94253	AGT	RARRES3-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000396628.1		+	ENST00000439013.2	Missense_Mutation	SNP	11 : 63312120 - 63312120 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1091	27
RGS20	8601	broad.mit.edu	37	8	54791937	54791937	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:54791937C>T	ENST00000297313.3	+	2	377	c.285C>T	c.(283-285)ccC>ccT	p.P95P	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	95					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GACCCCCTCCCGAGGCTCCCC	0.726		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													37	48	44			NA	NA	8		NA											NA				54791937		2203	4296	6499	SO:0001819	synonymous_variant			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509	8601	8601		Regulators of G-protein signaling	14600	protein-coding gene	gene with protein product		607193	regulator of G-protein signalling 20		NA	9748279, 9748280	Standard		NM_003702	NA	Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.285C>T	8.37:g.54791937C>T		NA	Q96BG9	37	CCDS6155.1																																																																																			RGS20-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380058.1		+	ENST00000297313.3	Silent	SNP	8 : 54791937 - 54791937 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	605	8
RNF133	168433	broad.mit.edu	37	7	122338189	122338189	+	Missense_Mutation	SNP	G	G	A	rs137950690		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:122338189G>A	ENST00000340112.2	-	1	1021	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	262						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGCTTATAGCGTTCAAAGCAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(198;1778 2057 7449 19869 45985)							NA				0								G	,,,CYS/ARG	0,4406		0,0,2203	159	148	152		,,,784	2.6	0.3	7	dbSNP_134	152	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,intron,missense	CADPS2,RNF133	NM_001009571.3,NM_001167940.1,NM_017954.10,NM_139175.1	,,,180	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	,,,benign	,,,262/377	122338189	2,13004	2203	4300	6503	SO:0001583	missense			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050	168433	168433		RING-type (C3HC4) zinc fingers	21154	protein-coding gene	gene with protein product					NA		Standard	NM_139175	NM_139175	NA	Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.784C>T	7.37:g.122338189G>A	ENSP00000344489:p.Arg262Cys	NA	A4D0W2|Q8N7G7	37	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	G	0.871	-0.731875	0.03135	0.0	2.33E-4	ENSG00000188050	ENST00000340112	T	0.43294	0.95	5.53	2.62	0.31277	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.713262	0.12945	U	0.426283	T	0.26011	0.0634	N	0.21282	0.65	0.09310	N	0.999999	B	0.23891	0.093	B	0.20767	0.031	T	0.20306	-1.0279	10	0.62326	D	0.03	.	4.5179	0.11945	0.091:0.4253:0.36:0.1236	.	262	Q8WVZ7	RN133_HUMAN	C	262	ENSP00000344489:R262C	ENSP00000344489:R262C	R	-	1	0	RNF133	122125425	0.051000	0.20477	0.293000	0.24932	0.004000	0.04260	0.822000	0.27352	0.672000	0.31204	-0.424000	0.05967	CGC	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347413.1		-	ENST00000340112.2	Missense_Mutation	SNP	7 : 122338189 - 122338189 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	722	8
RP11-113D6.10	0	broad.mit.edu	37	11	18231323	18231323	+	Missense_Mutation	SNP	A	A	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:18231323A>C	ENST00000527059.1	+	1	569	c.109A>C	c.(109-111)Agt>Cgt	p.S37R	RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.S37R|RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.S37R						NA											NA						TTACAGATTTAGTGAAATGAA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000527059.1:c.109A>C	11.37:g.18231323A>C	ENSP00000436511:p.Ser37Arg	NA		37		.	.	.	.	.	.	.	.	.	.	a	4.799	0.148497	0.09134	.	.	ENSG00000189332	ENST00000340135;ENST00000534640;ENST00000527059	T;T;T	0.79554	-1.28;-1.28;-1.28	0.513	-1.03	0.10102	.	0.734180	0.13159	N	0.409189	T	0.59838	0.2223	.	.	.	.	.	.	.	.	.	.	.	.	T	0.48387	-0.9040	6	0.14656	T	0.56	.	2.1735	0.03856	0.2459:0.0:0.2824:0.4717	.	.	.	.	R	37	ENSP00000342780:S37R;ENSP00000437119:S37R;ENSP00000436511:S37R	ENSP00000342780:S37R	S	+	1	0	RP11-113D6.10	18187899	0.970000	0.33590	0.062000	0.19696	0.316000	0.28119	0.273000	0.18662	-1.565000	0.01676	-0.769000	0.03391	AGT	RP11-113D6.10-001	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000389801.2		+	ENST00000527059.1	Missense_Mutation	SNP	11 : 18231323 - 18231323 C PAAD-TCGA-RB-A7B8-Tumor-SM-54377	323	45
RRAGD	58528	broad.mit.edu	37	6	90087442	90087442	+	Missense_Mutation	SNP	C	C	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:90087442C>G	ENST00000369415.4	-	5	1126	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	RRAGD_ENST00000359203.3_Missense_Mutation_p.E133Q|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	284					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CAGCAGAGCTCATAGGTTTGC	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													140	134	136			NA	NA	6		NA											NA				90087442		2203	4300	6503	SO:0001583	missense			AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039	58528	58528			19903	protein-coding gene	gene with protein product		608268			NA	11073942	Standard	NM_021244	NM_021244	NA	Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.850G>C	6.37:g.90087442C>G	ENSP00000358423:p.Glu284Gln	NA	A8K184|Q7L8F9|Q9NPG0	37	CCDS5022.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070456	0.93950	.	.	ENSG00000025039	ENST00000369415;ENST00000359203	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86571	0.1847	9	0.66056	D	0.02	-13.7325	19.2342	0.93851	0.0:1.0:0.0:0.0	.	284	Q9NQL2	RRAGD_HUMAN	Q	284;133	.	ENSP00000352131:E133Q	E	-	1	0	RRAGD	90144161	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.771000	0.85420	2.553000	0.86117	0.462000	0.41574	GAG	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041484.1		-	ENST00000369415.4	Missense_Mutation	SNP	6 : 90087442 - 90087442 G PAAD-TCGA-RB-A7B8-Tumor-SM-54377	452	69
RRP12	23223	broad.mit.edu	37	10	99126559	99126559	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr10:99126559G>A	ENST00000370992.4	-	27	3266	c.3155C>T	c.(3154-3156)gCc>gTc	p.A1052V	RRP12_ENST00000315563.6_Missense_Mutation_p.A952V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.A991V|RRP12_ENST00000536831.1_Missense_Mutation_p.A770V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1052						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ctcctccACGGCAGCCTGGCT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	123	118			NA	NA	10		NA											NA				99126559		2203	4300	6503	SO:0001583	missense				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749	23223	23223			29100	protein-coding gene	gene with protein product			KIAA0690	KIAA0690	NA	9734811	Standard	NM_015179	NM_015179	NA	Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3155C>T	10.37:g.99126559G>A	ENSP00000360031:p.Ala1052Val	NA	Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395000	0.25205	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.34859	1.34;1.35;1.35;1.35	4.7	3.79	0.43588	.	0.184388	0.46442	D	0.000284	T	0.28863	0.0716	L	0.31926	0.97	0.39444	D	0.967292	B;B;B;B	0.22146	0.016;0.065;0.027;0.009	B;B;B;B	0.21917	0.004;0.037;0.037;0.01	T	0.06698	-1.0812	10	0.33141	T	0.24	-1.8106	14.2053	0.65730	0.0:0.0:0.8493:0.1507	.	991;952;770;1052	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	V	1052;952;991;770	ENSP00000360031:A1052V;ENSP00000324315:A952V;ENSP00000414863:A991V;ENSP00000446184:A770V	ENSP00000324315:A952V	A	-	2	0	RRP12	99116549	0.912000	0.30974	0.455000	0.27031	0.045000	0.14185	3.330000	0.52068	0.955000	0.37878	-0.310000	0.09108	GCC	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049699.4		-	ENST00000370992.4	Missense_Mutation	SNP	10 : 99126559 - 99126559 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1358	7
SARS2	54938	broad.mit.edu	37	19	39421234	39421234	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:39421234G>A	ENST00000221431.6	-	1	302	c.143C>T	c.(142-144)gCg>gTg	p.A48V	MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_Missense_Mutation_p.A48V|SARS2_ENST00000600042.1_Missense_Mutation_p.A48V|CTC-360G5.8_ENST00000599996.1_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	48					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCCCTCGCGCGCATACTCGTA	0.627		NA									OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	84	88			NA	NA	19		NA											NA				39421234		2203	4300	6503	SO:0001583	missense			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	54938	54938	6.1.1.11	Aminoacyl tRNA synthetases / Class II	17697	protein-coding gene	gene with protein product	serine tRNA ligase 2, mitochondrial	612804	serine-tRNA ligase, mitochondrial, seryl-tRNA synthetase 2	SARSM	NA	10764807	Standard	NM_017827	NM_001145901	NA	Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.143C>T	19.37:g.39421234G>A	ENSP00000221431:p.Ala48Val	885	A6NHW7|Q9BVP3	37	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512002	0.44660	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.55588	0.51;0.51;1.49	5.65	4.57	0.56435	.	0.122893	0.53938	D	0.000045	T	0.40979	0.1139	L	0.43923	1.385	.	.	.	D;B;B	0.56746	0.977;0.206;0.257	B;B;B	0.43623	0.425;0.014;0.007	T	0.44952	-0.9294	9	0.16896	T	0.51	.	8.6175	0.33840	0.1027:0.0:0.8973:0.0	.	48;48;48	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	V	48	ENSP00000406754:A48V;ENSP00000221431:A48V;ENSP00000414954:A48V	ENSP00000221431:A48V	A	-	2	0	FBXO17	44113074	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	GCG	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463139.1		-	ENST00000221431.6	Missense_Mutation	SNP	19 : 39421234 - 39421234 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	700	7
SCN1A	6323	broad.mit.edu	37	2	166901827	166901827	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:166901827G>A	ENST00000409050.1	-	10	1387	c.1388C>T	c.(1387-1389)aCg>aTg	p.T463M	AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.T463M|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.T463M|SCN1A_ENST00000375405.3_Missense_Mutation_p.T463M			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	463						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGCAGTTGCCGTTGCTGCCTG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													71	74	73			NA	NA	2		NA											NA				166901827		2203	4300	6503	SO:0001583	missense			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285	6323	6323		Sodium channels, Voltage-gated ion channels / Sodium channels	10585	protein-coding gene	gene with protein product		182389	febrile convulsions 3	SCN1, FEB3	NA	8062593, 16382098, 11823106	Standard	NM_006920	NM_006920	NA	Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000409050.1:c.1388C>T	2.37:g.166901827G>A	ENSP00000386312:p.Thr463Met	NA	Q16172|Q585T7|Q96LA3|Q9C008	37	CCDS54414.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507602	0.27036	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.37	4.49	0.54785	.	0.572471	0.15627	N	0.252583	T	0.13286	0.0322	N	0.04203	-0.255	0.24301	N	0.99512	B;B;B	0.30021	0.265;0.173;0.173	B;B;B	0.25759	0.063;0.029;0.029	T	0.16305	-1.0407	10	0.37606	T	0.19	.	14.4281	0.67230	0.0709:0.0:0.9291:0.0	.	463;463;463	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	M	463	ENSP00000407030:T463M;ENSP00000303540:T463M;ENSP00000364554:T463M;ENSP00000386312:T463M	ENSP00000303540:T463M	T	-	2	0	SCN1A	166610073	0.963000	0.33076	0.098000	0.21074	0.070000	0.16714	3.561000	0.53770	1.411000	0.46957	0.655000	0.94253	ACG	SCN1A-003	NOVEL	non_canonical_U12|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333750.1		-	ENST00000409050.1	Missense_Mutation	SNP	2 : 166901827 - 166901827 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	496	6
SCN3B	55800	broad.mit.edu	37	11	123516310	123516310	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:123516310G>A	ENST00000392770.2	-	2	1006	c.204C>T	c.(202-204)ggC>ggT	p.G68G	SCN3B_ENST00000530277.1_Silent_p.G68G|SCN3B_ENST00000299333.3_Silent_p.G68G	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	68	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		AATCTTTACCGCCCTCGGGCC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													132	138	136			NA	NA	11		NA											NA				123516310		2202	4299	6501	SO:0001819	synonymous_variant			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257	55800	55800		Sodium channels, Voltage-gated ion channels / Sodium channels, Immunoglobulin superfamily / V-set domain containing	20665	protein-coding gene	gene with protein product		608214	sodium channel, voltage-gated, type III, beta		NA	10688874	Standard	NM_018400	XR_428980	NA	Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.204C>T	11.37:g.123516310G>A		NA	A5H1I5|Q17RL3|Q9ULR2	37	CCDS8442.1																																																																																			SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387412.1		-	ENST00000392770.2	Silent	SNP	11 : 123516310 - 123516310 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	702	120
SCYL1	57410	broad.mit.edu	37	11	65299135	65299135	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:65299135G>A	ENST00000524944.1	+	8	1130	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	SCYL1_ENST00000270176.5_Missense_Mutation_p.R366H|SCYL1_ENST00000420247.2_Missense_Mutation_p.R366H|SCYL1_ENST00000279270.6_Missense_Mutation_p.R366H|SCYL1_ENST00000527009.1_Missense_Mutation_p.R223H|SCYL1_ENST00000533862.1_Missense_Mutation_p.R366H|SCYL1_ENST00000525364.1_Missense_Mutation_p.R366H			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	366					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CGGGCCATGCGCATCCGCCTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													67	68	68			NA	NA	11		NA											NA				65299135		2145	4260	6405	SO:0001583	missense			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186	57410	57410			14372	protein-coding gene	gene with protein product	teratoma-associated tyrosine kinase, telomerase transcriptional elements-interacting factor, telomerase regulation-associated protein	607982	N-terminal kinase-like	NTKL	NA	11118629	Standard	NM_020680	NM_020680	NA	Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000524944.1:c.1097G>A	11.37:g.65299135G>A	ENSP00000432175:p.Arg366His	NA	A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	37		.	.	.	.	.	.	.	.	.	.	G	28.5	4.925405	0.92319	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000527009	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.17	5.17	0.71159	Armadillo-like helical (1);Armadillo-type fold (1);	0.179297	0.45361	D	0.000375	T	0.74473	0.3721	M	0.90595	3.13	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;0.998	D;D;D;D;P	0.75484	0.949;0.986;0.981;0.928;0.85	T	0.80327	-0.1429	10	0.87932	D	0	-8.8898	16.593	0.84772	0.0:0.0:1.0:0.0	.	366;366;366;366;366	E9PS17;Q96KG9-4;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;.;NTKL_HUMAN	H	366;366;366;366;366;366;366;366;223	ENSP00000270176:R366H;ENSP00000431635:R366H;ENSP00000408192:R366H;ENSP00000437254:R366H;ENSP00000433450:R366H;ENSP00000279270:R366H;ENSP00000432175:R366H;ENSP00000436993:R223H	ENSP00000270176:R366H	R	+	2	0	SCYL1	65055711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.515000	0.90548	2.609000	0.88269	0.650000	0.86243	CGC	SCYL1-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000389161.2		+	ENST00000524944.1	Missense_Mutation	SNP	11 : 65299135 - 65299135 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	230	5
SERPINE1	5054	broad.mit.edu	37	7	100780300	100780300	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:100780300G>A	ENST00000445463.2	+	9	1209	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	SERPINE1_ENST00000223095.4_Missense_Mutation_p.R369H			P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	369					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GTCTCAGCCCGCATGGCCCCC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	111	118			NA	NA	7		NA											NA				100780300		2203	4300	6503	SO:0001583	missense			M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366	5054	5054		Serine (or cysteine) peptidase inhibitors	8583	protein-coding gene	gene with protein product	plasminogen activator inhibitor, type I	173360	serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	PLANH1, PAI1	NA	3097076, 2891140, 24172014	Standard	NM_000602	NM_000602	NA	Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000445463.2:c.1061G>A	7.37:g.100780300G>A	ENSP00000396766:p.Arg354His	NA		37		.	.	.	.	.	.	.	.	.	.	G	17.61	3.432084	0.62844	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000536888	T;T	0.24350	1.86;1.86	5.67	5.67	0.87782	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.85945	2.785	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.70016	0.945;0.967	T	0.60505	-0.7250	10	0.72032	D	0.01	.	15.2607	0.73621	0.0:0.0:1.0:0.0	.	354;369	F8WD53;P05121	.;PAI1_HUMAN	H	369;354;146	ENSP00000223095:R369H;ENSP00000396766:R354H	ENSP00000223095:R369H	R	+	2	0	SERPINE1	100567020	1.000000	0.71417	0.998000	0.56505	0.024000	0.10985	7.941000	0.87700	2.664000	0.90586	0.555000	0.69702	CGC	SERPINE1-201	KNOWN	basic|exp_conf	protein_coding	NA	protein_coding			+	ENST00000445463.2	Missense_Mutation	SNP	7 : 100780300 - 100780300 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	621	5
SETDB1	9869	broad.mit.edu	37	1	150921863	150921863	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:150921863C>T	ENST00000271640.5	+	12	1632	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.A481V	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCCAGCTTGCCCAGTCACGG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	112	110			NA	NA	1		NA											NA				150921863		2203	4300	6503	SO:0001583	missense			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379	9869	9869		Chromatin-modifying enzymes / K-methyltransferases, Tudor domain containing	10761	protein-coding gene	gene with protein product	tudor domain containing 21	604396			NA	10343109	Standard		NM_001145415	NA	Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1442C>T	1.37:g.150921863C>T	ENSP00000271640:p.Ala481Val	NA	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	37	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252181	0.59212	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	D;T;D;T	0.88046	-2.33;1.38;-2.33;1.14	4.65	4.65	0.58169	.	0.068152	0.64402	D	0.000015	T	0.69024	0.3065	N	0.24115	0.695	0.80722	D	1	B;P;B;B	0.38677	0.295;0.642;0.253;0.141	B;B;B;B	0.35278	0.081;0.199;0.088;0.012	T	0.72033	-0.4412	10	0.15499	T	0.54	.	17.7273	0.88369	0.0:1.0:0.0:0.0	.	481;482;481;481	E9PRF4;E9PQM8;Q15047-3;Q15047	.;.;.;SETB1_HUMAN	V	481;482;481;481	ENSP00000271640:A481V;ENSP00000436148:A482V;ENSP00000357965:A481V;ENSP00000432348:A481V	ENSP00000271640:A481V	A	+	2	0	SETDB1	149188487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.161000	0.58170	2.417000	0.82017	0.561000	0.74099	GCC	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084717.2		+	ENST00000271640.5	Missense_Mutation	SNP	1 : 150921863 - 150921863 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	696	5
SGPP1	81537	broad.mit.edu	37	14	64152974	64152974	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:64152974C>T	ENST00000247225.6	-	3	1269	c.1175G>A	c.(1174-1176)tGc>tAc	p.C392Y		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	392						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		GAAGATTTTGCAGGCTAAAGG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	147	152			NA	NA	14		NA											NA				64152974		2203	4300	6503	SO:0001583	missense			AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821	81537	81537			17720	protein-coding gene	gene with protein product		612826			NA	10859351	Standard	NM_030791	NM_030791	NA	Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1175G>A	14.37:g.64152974C>T	ENSP00000247225:p.Cys392Tyr	NA	B2RAH0|Q9H189	37	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600744	0.46423	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.75817	0.3901	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67581	-0.5634	9	0.02654	T	1	-10.149	20.6593	0.99626	0.0:1.0:0.0:0.0	.	392	Q9BX95	SGPP1_HUMAN	Y	392	.	ENSP00000247225:C392Y	C	-	2	0	SGPP1	63222727	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.416000	0.80143	2.885000	0.99019	0.655000	0.94253	TGC	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000072626.3		-	ENST00000247225.6	Missense_Mutation	SNP	14 : 64152974 - 64152974 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	469	5
SH3RF2	153769	broad.mit.edu	37	5	145435652	145435652	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr5:145435652G>A	ENST00000511217.1	+	7	1483	c.1431G>A	c.(1429-1431)cgG>cgA	p.R477R	SH3RF2_ENST00000359120.4_Silent_p.R477R|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	477			R -> Q (in dbSNP:rs35165046).				ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGATCCACGGCAAAGCCGTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													136	129	132			NA	NA	5		NA											NA				145435652		2203	4300	6503	SO:0001819	synonymous_variant			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463	153769	153769		RING-type (C3HC4) zinc fingers, Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	26299	protein-coding gene	gene with protein product	heart protein phosphatase 1-binding protein, POSH-eliminating RING protein	613377	protein phosphatase 1, regulatory subunit 39	PPP1R39	NA	22128169	Standard	NM_152550	NM_152550	NA	Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1431G>A	5.37:g.145435652G>A		NA	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	37	CCDS4280.1																																																																																			SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372804.1		+	ENST00000511217.1	Silent	SNP	5 : 145435652 - 145435652 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	872	6
SIN3A	25942	broad.mit.edu	37	15	75703966	75703966	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr15:75703966G>A	ENST00000394947.3	-	6	1189	c.875C>T	c.(874-876)aCg>aTg	p.T292M	SIN3A_ENST00000360439.4_Missense_Mutation_p.T292M|SIN3A_ENST00000394949.4_Missense_Mutation_p.T292M	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	292	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGATGGGGCCGTTCCCAACGA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													205	192	196			NA	NA	15		NA											NA				75703966		2197	4294	6491	SO:0001583	missense			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375	25942	25942			19353	protein-coding gene	gene with protein product		607776	SIN3 homolog A, transcription regulator (yeast), SIN3 transcription regulator homolog A (yeast)		NA	10773092, 7601471	Standard	NM_015477	NM_001145357	NA	Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.875C>T	15.37:g.75703966G>A	ENSP00000378402:p.Thr292Met	NA	B2RNS5|Q8N8N4|Q8NC83|Q8WV18|Q96L98|Q9UFQ1	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445493	0.63178	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.47528	0.84;0.84;0.84	6.06	6.06	0.98353	.	0.090368	0.85682	D	0.000000	T	0.34395	0.0896	N	0.22421	0.69	0.80722	D	1	P	0.48998	0.918	B	0.36030	0.216	T	0.10314	-1.0635	10	0.30854	T	0.27	-12.2568	19.6164	0.95636	0.0:0.0:1.0:0.0	.	292	Q96ST3	SIN3A_HUMAN	M	292	ENSP00000378402:T292M;ENSP00000378403:T292M;ENSP00000353622:T292M	ENSP00000353622:T292M	T	-	2	0	SIN3A	73491019	1.000000	0.71417	0.986000	0.45419	0.925000	0.55904	7.229000	0.78088	2.871000	0.98454	0.655000	0.94253	ACG	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286469.1		-	ENST00000394947.3	Missense_Mutation	SNP	15 : 75703966 - 75703966 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1089	7
SLC5A1	6523	broad.mit.edu	37	22	32481008	32481008	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:32481008G>A	ENST00000266088.4	+	9	1257	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	SLC5A1_ENST00000543737.1_Missense_Mutation_p.R209H	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	336					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.R336H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ATGATCAGCCGCATTCTGTAC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											181	153	162			NA	NA	22		NA											NA				32481008		2203	4300	6503	SO:0001583	missense				CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170	6523	6523		Solute carriers	11036	protein-coding gene	gene with protein product	sodium/glucose cotransporter 1	182380		SGLT1	NA	8195156	Standard	NM_000343	NM_000343	NA	Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1007G>A	22.37:g.32481008G>A	ENSP00000266088:p.Arg336His	NA	B2R7E2	37	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907312	0.72868	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.89123	-2.47;-2.47	4.92	2.8	0.32819	.	0.051673	0.85682	N	0.000000	D	0.95370	0.8497	H	0.95574	3.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94570	0.7770	10	0.87932	D	0	.	9.6601	0.39950	0.078:0.142:0.78:0.0	.	336	P13866	SC5A1_HUMAN	H	336;209	ENSP00000266088:R336H;ENSP00000444898:R209H	ENSP00000266088:R336H	R	+	2	0	SLC5A1	30811008	1.000000	0.71417	0.996000	0.52242	0.796000	0.44982	9.582000	0.98214	0.589000	0.29677	-0.229000	0.12294	CGC	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000075656.3		+	ENST00000266088.4	Missense_Mutation	SNP	22 : 32481008 - 32481008 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	849	7
SLC5A9	200010	broad.mit.edu	37	1	48694800	48694800	+	Missense_Mutation	SNP	A	A	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:48694800A>T	ENST00000236495.5	+	4	415	c.365A>T	c.(364-366)gAc>gTc	p.D122V	SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000533824.1_Missense_Mutation_p.D122V|SLC5A9_ENST00000438567.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						tctggaggagacagagggatc	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	146	143			NA	NA	1		NA											NA				48694800		2203	4300	6503	SO:0001583	missense			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834	200010	200010		Solute carriers	22146	protein-coding gene	gene with protein product			solute carrier family 5 (sodium/glucose cotransporter), member 9		NA		Standard	XM_117174	NM_001011547	NA	Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000236495.5:c.365A>T	1.37:g.48694800A>T	ENSP00000236495:p.Asp122Val	NA	B3KY87|Q5TET3	37	CCDS44136.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762531	0.31228	.	.	ENSG00000117834	ENST00000533824;ENST00000236495	D;D	0.86366	-2.09;-2.11	4.38	-3.72	0.04411	.	7.109250	0.00166	N	0.000000	T	0.69360	0.3102	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.61098	-0.7131	10	0.13470	T	0.59	.	2.5006	0.04632	0.2016:0.4357:0.229:0.1337	.	122;122	E9PJ08;E9PAK4	.;.	V	122	ENSP00000431900:D122V;ENSP00000236495:D122V	ENSP00000236495:D122V	D	+	2	0	SLC5A9	48467387	0.000000	0.05858	0.000000	0.03702	0.291000	0.27294	0.004000	0.13106	-0.559000	0.06110	-0.464000	0.05259	GAC	SLC5A9-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021841.5		+	ENST00000236495.5	Missense_Mutation	SNP	1 : 48694800 - 48694800 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1162	136
SLC6A9	6536	broad.mit.edu	37	1	44468618	44468618	+	Silent	SNP	A	A	G			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr1:44468618A>G	ENST00000372307.3	-	5	762	c.435T>C	c.(433-435)ttT>ttC	p.F145F	SLC6A9_ENST00000372306.3_Silent_p.F210F|SLC6A9_ENST00000372310.3_Silent_p.F210F|SLC6A9_ENST00000537678.1_Silent_p.F145F|SLC6A9_ENST00000360584.2_Silent_p.F283F|SLC6A9_ENST00000357730.2_Silent_p.F229F|SLC6A9_ENST00000475075.2_Silent_p.F99F			P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	283						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCACCTCCCCAAAGTTCCCAA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	133	130			NA	NA	1		NA											NA				44468618		2203	4300	6503	SO:0001819	synonymous_variant			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517	6536	6536		Solute carriers	11056	protein-coding gene	gene with protein product		601019			NA	8183239, 7587377	Standard	NM_201649	NM_006934	NA	Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000372307.3:c.435T>C	1.37:g.44468618A>G		NA	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	37																																																																																				SLC6A9-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000386657.1		-	ENST00000372307.3	Silent	SNP	1 : 44468618 - 44468618 G PAAD-TCGA-RB-A7B8-Tumor-SM-54377	937	156
SLC7A14	57709	broad.mit.edu	37	3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	NA						integral to membrane	amino acid transmembrane transporter activity	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)						G	VAL/ALA	0,4406		0,0,2203	101	107	105		1976	4.9	0.9	3		105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC7A14	NM_020949.2	64	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	benign	659/772	170198095	2,13004	2203	4300	6503	SO:0001583	missense			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293	57709	57709		Solute carriers	29326	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 142	615720			NA		Standard	NM_020949	NM_020949	NA	Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1976C>T	3.37:g.170198095G>A	ENSP00000231706:p.Ala659Val	NA	B3KV33|Q9HCF9	37	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525393	0.44969	0.0	2.33E-4	ENSG00000013293	ENST00000231706	D	0.87103	-2.21	5.81	4.94	0.65067	.	0.154542	0.56097	D	0.000025	T	0.72867	0.3514	N	0.04203	-0.255	0.47065	D	0.999306	B	0.24576	0.106	B	0.15484	0.013	T	0.68349	-0.5432	10	0.25751	T	0.34	.	14.9962	0.71433	0.0683:0.0:0.9317:0.0	.	659	Q8TBB6	S7A14_HUMAN	V	659	ENSP00000231706:A659V	ENSP00000231706:A659V	A	-	2	0	SLC7A14	171680789	1.000000	0.71417	0.906000	0.35671	0.997000	0.91878	7.611000	0.82962	1.455000	0.47813	0.655000	0.94253	GCG	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352598.2		-	ENST00000231706.5	Missense_Mutation	SNP	3 : 170198095 - 170198095 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	789	8
SMG1	23049	broad.mit.edu	37	16	18841673	18841673	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:18841673G>A	ENST00000446231.2	-	52	9223	c.8811C>T	c.(8809-8811)taC>taT	p.Y2937Y	SMG1_ENST00000389467.3_Silent_p.Y2937Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2937					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTAATTCACCGTACTGAGCAT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	70	72			NA	NA	16		NA											NA				18841673		1871	4109	5980	SO:0001819	synonymous_variant			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106	23049	23049			30045	protein-coding gene	gene with protein product	phosphatidylinositol 3-kinase-related kinase	607032	smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)		NA	9455477, 11331269, 17229728	Standard	NM_015092	NM_015092	NA	Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8811C>T	16.37:g.18841673G>A		NA	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	37	CCDS45430.1																																																																																			SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391817.1		-	ENST00000446231.2	Silent	SNP	16 : 18841673 - 18841673 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	182	4
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr4:186544317G>A	ENST00000437304.2	-	16	2259				SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S	NM_001145673.1	NP_001139145.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	NA						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(153;41 2433 9491 36028)							NA				1	Substitution - Missense(1)	prostate(1)											141	161	154			NA	NA	4		NA											NA				186544317		2203	4300	6503	SO:0001627	intron_variant				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556	8470	8470			24098	protein-coding gene	gene with protein product	Arg/Abl interacting protein				NA	9211900, 9872452	Standard	NM_003603	NM_021069	NA	Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000437304.2:c.1676-3012C>T	4.37:g.186544317G>A		NA	A6NEK9|D3DP62|D3DP63|O60592|O60593|Q96EX0	37	CCDS47175.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG	SORBS2-009	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347952.2		-	ENST00000437304.2	Intron	SNP	4 : 186544317 - 186544317 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1364	7
SRGAP3	9901	broad.mit.edu	37	3	9100157	9100157	+	Splice_Site	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:9100157C>T	ENST00000383836.3	-	7	1229		c.e7-1		SRGAP3_ENST00000360413.3_Splice_Site|SRGAP3_ENST00000433332.3_Splice_Site	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	NA					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AATCACAGCACTTGGGGAGAG	0.577		NA	T	RAF1	pilocytic astrocytoma									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													68	64	65			NA	NA	3		NA											NA				9100157		2203	4300	6503	SO:0001630	splice_region_variant			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220	9901	9901		Rho GTPase activating proteins	19744	protein-coding gene	gene with protein product		606525	SLIT-ROBO Rho GTPase activating protein 2	SRGAP2	NA	12195014	Standard		NM_014850	NA	Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.802-1G>A	3.37:g.9100157C>T		NA	Q8IX13|Q8IZV8	37	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424679	0.83667	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1098	0.93312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRGAP3	9075157	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	7.663000	0.83820	2.596000	0.87737	0.650000	0.86243	.	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207137.3	Intron	-	ENST00000383836.3	Splice_Site	SNP	3 : 9100157 - 9100157 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	374	8
ST5	6764	broad.mit.edu	37	11	8751522	8751522	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:8751522G>A	ENST00000534127.1	-	6	1700	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	ST5_ENST00000357665.1_Missense_Mutation_p.R439C|ST5_ENST00000313726.6_Missense_Mutation_p.R439C|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	439	Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CGGTGACCACGCATGTCCTTC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													284	277	279			NA	NA	11		NA											NA				8751522		2201	4296	6497	SO:0001583	missense			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444	6764	6764		DENN/MADD domain containing	11350	protein-coding gene	gene with protein product	DENN/MADD domain containing 2B	140750			NA	1390339	Standard	NM_005418	NM_005418	NA	Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1315C>T	11.37:g.8751522G>A	ENSP00000433528:p.Arg439Cys	NA	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	37	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290665	0.80914	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.06687	3.27;3.27;3.27	6.11	6.11	0.99139	.	0.102941	0.39407	N	0.001363	T	0.18718	0.0449	L	0.34521	1.04	0.58432	D	0.999997	D	0.76494	0.999	P	0.59357	0.856	T	0.00039	-1.2241	10	0.72032	D	0.01	-7.866	18.9147	0.92501	0.0:0.0:1.0:0.0	.	439	P78524	ST5_HUMAN	C	439	ENSP00000433528:R439C;ENSP00000319678:R439C;ENSP00000350294:R439C	ENSP00000319678:R439C	R	-	1	0	ST5	8708098	1.000000	0.71417	0.970000	0.41538	0.992000	0.81027	4.038000	0.57318	2.906000	0.99361	0.655000	0.94253	CGT	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386518.1		-	ENST00000534127.1	Missense_Mutation	SNP	11 : 8751522 - 8751522 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1939	10
STXBP5	134957	broad.mit.edu	37	6	147680320	147680320	+	Silent	SNP	G	G	A	rs142207202		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr6:147680320G>A	ENST00000367481.3	+	21	2406	c.2298G>A	c.(2296-2298)acG>acA	p.T766T	STXBP5_ENST00000367480.3_Silent_p.T749T|STXBP5_ENST00000321680.6_Silent_p.T802T|STXBP5_ENST00000179882.6_Silent_p.T457T	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	802					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCTGTGAAACGTTTACTCGAA	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	,	1,4405	826.1+/-416.6	0,1,2202	113	107	109		2406,2298	-8.6	0	6	dbSNP_134	109	3,8597	819.1+/-406.8	0,3,4297	yes	coding-synonymous,coding-synonymous	STXBP5	NM_001127715.2,NM_139244.4	,	0,4,6499	AA,AG,GG	NA	0.0349,0.0227,0.0308	,	802/1152,766/1116	147680320	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506	NA	134957		WD repeat domain containing	19665	protein-coding gene	gene with protein product		604586			NA	9620695, 14767561	Standard		NM_139244	NA	Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000367481.3:c.2298G>A	6.37:g.147680320G>A		NA	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	37	CCDS5211.1	.	.	.	.	.	.	.	.	.	.	A	0.141	-1.102263	0.01828	2.27E-4	3.49E-4	ENSG00000164506	ENST00000367475	.	.	.	5.46	-8.64	0.00874	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38457	-0.9660	4	.	.	.	.	3.0411	0.06139	0.2097:0.1742:0.4436:0.1725	.	.	.	.	I	128	.	.	V	+	1	0	STXBP5	147722013	0.026000	0.19158	0.003000	0.11579	0.052000	0.14988	-0.885000	0.04161	-2.023000	0.00937	-2.952000	0.00084	GTT	STXBP5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042605.1		+	ENST00000367481.3	Silent	SNP	6 : 147680320 - 147680320 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	404	43
SYNE2	23224	broad.mit.edu	37	14	64685207	64685207	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr14:64685207C>T	ENST00000554584.1	+	109	19387				SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000357395.3_Missense_Mutation_p.A2907V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|SYNE2_ENST00000344113.4_Missense_Mutation_p.A6522V			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	NA					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGGGACTGGCCGGTATCACA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	63	62			NA	NA	14		NA											NA				64685207		2203	4300	6503	SO:0001627	intron_variant			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654	23224	23224			17084	protein-coding gene	gene with protein product	nuclear envelope spectrin repeat-2, nucleus and actin connecting element	608442			NA	10231032, 10878022	Standard	NM_182914	NM_182910	NA	Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000554584.1:c.19337-719C>T	14.37:g.64685207C>T		NA	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	37		.	.	.	.	.	.	.	.	.	.	C	12.74	2.028348	0.35797	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.47177	0.86;4.09;0.85;4.15;4.09;3.72;3.25;2.92;2.74	4.83	4.83	0.62350	.	0.300803	0.23782	N	0.044608	T	0.42743	0.1216	L	0.55481	1.735	0.80722	D	1	B;B;B;B;B;B;P	0.38048	0.03;0.03;0.107;0.107;0.009;0.192;0.616	B;B;B;B;B;B;B	0.34824	0.01;0.033;0.061;0.023;0.01;0.082;0.19	T	0.45833	-0.9234	10	0.51188	T	0.08	.	13.2847	0.60237	0.0:1.0:0.0:0.0	.	179;2907;53;179;910;6522;6545	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	V	6545;2907;6522;3179;2907;400;305;179;53	ENSP00000350719:A6545V;ENSP00000349969:A2907V;ENSP00000341781:A6522V;ENSP00000450831:A3179V;ENSP00000378249:A2907V;ENSP00000451009:A400V;ENSP00000450605:A305V;ENSP00000391937:A179V;ENSP00000396794:A53V	ENSP00000341781:A6522V	A	+	2	0	SYNE2	63754960	0.417000	0.25432	0.013000	0.15412	0.004000	0.04260	1.003000	0.29809	2.489000	0.83994	0.561000	0.74099	GCC	SYNE2-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000411905.1		+	ENST00000554584.1	Intron	SNP	14 : 64685207 - 64685207 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	197	5
TAS2R38	5726	broad.mit.edu	37	7	141673468	141673468	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:141673468G>A	ENST00000547270.1	-	1	105	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	8					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GACACAGTGCGGATGCGAGTT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	0,4406		0,0,2203	114	112	113		22	-9.6	0	7		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAS2R38	NM_176817.4	180	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign	8/334	141673468	1,13005	2203	4300	6503	SO:0001583	missense			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138	5726	5726		Taste receptors / Type 2, GPCR / Unclassified : Taste receptors	9584	protein-coding gene	gene with protein product		607751	phenylthiocarbamide tasting	PTC	NA	12624758, 12584440	Standard	NM_176817	NM_176817	NA	Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.22C>T	7.37:g.141673468G>A	ENSP00000448219:p.Arg8Cys	NA	P59552|Q2M3E8|Q645W3|Q86UK3	37	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	3.866	-0.028883	0.07589	0.0	1.16E-4	ENSG00000257138	ENST00000547270	T	0.00816	5.66	5.1	-9.6	0.00553	.	4.375660	0.01228	N	0.008298	T	0.00412	0.0013	N	0.03608	-0.345	0.09310	N	1	B	0.22276	0.067	B	0.04013	0.001	T	0.51220	-0.8733	10	0.15066	T	0.55	.	1.5776	0.02627	0.1848:0.4484:0.1652:0.2016	.	8	P59533	T2R38_HUMAN	C	8	ENSP00000448219:R8C	ENSP00000331291:R8C	R	-	1	0	TAS2R38	141319937	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.787000	0.04618	-1.782000	0.01275	-0.294000	0.09567	CGC	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000350810.2		-	ENST00000547270.1	Missense_Mutation	SNP	7 : 141673468 - 141673468 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	683	76
TMEM132D	121256	broad.mit.edu	37	12	129558549	129558549	+	Silent	SNP	G	G	A	rs74724941	by1000genomes	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr12:129558549G>A	ENST00000422113.2	-	9	3497	c.3171C>T	c.(3169-3171)gaC>gaT	p.D1057D	TMEM132D_ENST00000389441.4_Silent_p.D595D	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1057						integral to membrane		p.D1057E(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGGGTACTCGTCGTCTGAGG	0.512		NA											G	9	0.0041	NA	NA	2184	0.02	1	,	,	NA	3e-04	NA	NA	NA	0.0041	0.9947	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				1	Substitution - Missense(1)	ovary(1)						G		3,4403	6.2+/-15.9	0,3,2200	155	152	153		3171	-5.4	0	12	dbSNP_131	153	0,8600		0,0,4300	no	coding-synonymous	TMEM132D	NM_133448.2		0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231		1057/1100	129558549	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952	121256	121256			29411	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 153	611257			NA	11853319, 12966072	Standard	NM_133448	NM_133448	NA	Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3171C>T	12.37:g.129558549G>A		NA	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	37	CCDS9266.1																																																																																			TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399592.1		-	ENST00000422113.2	Silent	SNP	12 : 129558549 - 129558549 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	615	59
TNKS1BP1	85456	broad.mit.edu	37	11	57077417	57077417	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:57077417G>A	ENST00000532437.1	-	5	3079	c.2768C>T	c.(2767-2769)gCc>gTc	p.A923V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A923V|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	923	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.A923V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGCTCATCGGCATCCTGGCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											186	181	182			NA	NA	11		NA											NA				57077417		2201	4296	6497	SO:0001583	missense			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115	85456	85456			19081	protein-coding gene	gene with protein product		607104			NA	11854288	Standard	NM_033396	NM_033396	NA	Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.2768C>T	11.37:g.57077417G>A	ENSP00000437271:p.Ala923Val	NA	A7E2F8|Q6PJ35|Q6ZV74	37	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209903	0.39003	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.34472	1.36;1.36	5.47	1.3	0.21679	.	0.803739	0.10698	N	0.644437	T	0.42223	0.1193	L	0.59436	1.845	0.09310	N	1	D	0.54964	0.969	P	0.55011	0.766	T	0.22977	-1.0201	10	0.46703	T	0.11	-0.6792	3.1082	0.06348	0.1593:0.1452:0.5597:0.1357	.	923	Q9C0C2	TB182_HUMAN	V	923	ENSP00000350990:A923V;ENSP00000437271:A923V	ENSP00000350990:A923V	A	-	2	0	TNKS1BP1	56833993	0.000000	0.05858	0.002000	0.10522	0.117000	0.20001	0.116000	0.15561	0.245000	0.21373	0.462000	0.41574	GCC	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000392455.1		-	ENST00000532437.1	Missense_Mutation	SNP	11 : 57077417 - 57077417 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	962	8
TPTE	7179	broad.mit.edu	37	21	10970018	10970018	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr21:10970018G>A	ENST00000298232.7	-	6	477	c.110C>T	c.(109-111)gCg>gTg	p.A37V	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.A37V|TPTE_ENST00000342420.5_Missense_Mutation_p.A37V	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	37					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTTTCTTTCGCAGGTGCCTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	269	245	253		110,110,110	-1.5	0	21		253	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TPTE	NM_199261.2,NM_199260.2,NM_199259.2	64,64,64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign,benign	37/552,37/514,37/534	10970018	1,13005	2203	4300	6503	SO:0001583	missense			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391	7179	7179		Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs	12023	protein-coding gene	gene with protein product	PTEN-related tyrosine phosphatase, cancer/testis antigen 44	604336			NA	10830953, 14659893	Standard		NM_001290224	NA	Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000298232.7:c.110C>T	21.37:g.10970018G>A	ENSP00000298232:p.Ala37Val	NA	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	37	CCDS33512.1	.	.	.	.	.	.	.	.	.	.	G	3.609	-0.080010	0.07141	0.0	1.16E-4	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.95137	-3.43;-3.62;-3.51	0.725	-1.45	0.08828	.	0.367802	0.19873	U	0.104151	T	0.82135	0.4971	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18610	0.009;0.001;0.029	B;B;B	0.10450	0.003;0.0;0.005	T	0.70342	-0.4898	10	0.02654	T	1	.	4.7832	0.13213	0.0:0.0:0.5421:0.4579	.	37;37;37	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	V	37	ENSP00000298232:A37V;ENSP00000355208:A37V;ENSP00000344441:A37V	ENSP00000298232:A37V	A	-	2	0	TPTE	9991889	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.742000	0.01835	-1.132000	0.02907	0.194000	0.17425	GCG	TPTE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000157412.2		-	ENST00000298232.7	Missense_Mutation	SNP	21 : 10970018 - 10970018 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	704	13
TRHR	7201	broad.mit.edu	37	8	110099973	110099973	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:110099973G>A	ENST00000518632.1	+	2	583	c.232G>A	c.(232-234)Gca>Aca	p.A78T	TRHR_ENST00000311762.2_Missense_Mutation_p.A78T			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	78						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTTGGTGGCCGCAGGCCTCCC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	127	131			NA	NA	8		NA											NA				110099973		2203	4300	6503	SO:0001583	missense				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417	7201	7201			12299	protein-coding gene	gene with protein product		188545			NA	8128317	Standard		NM_003301	NA	Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.232G>A	8.37:g.110099973G>A	ENSP00000430711:p.Ala78Thr	NA	Q2M339	37	CCDS6311.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571768	0.86542	.	.	ENSG00000174417	ENST00000518632;ENST00000311762	T;T	0.71698	-0.59;-0.59	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.78974	-0.1992	10	0.23302	T	0.38	-37.8444	19.1516	0.93491	0.0:0.0:1.0:0.0	.	78	P34981	TRFR_HUMAN	T	78	ENSP00000430711:A78T;ENSP00000309818:A78T	ENSP00000309818:A78T	A	+	1	0	TRHR	110169149	1.000000	0.71417	0.809000	0.32408	0.898000	0.52572	9.860000	0.99555	2.773000	0.95371	0.655000	0.94253	GCA	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380892.1		+	ENST00000518632.1	Missense_Mutation	SNP	8 : 110099973 - 110099973 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	479	5
TRIM37	4591	broad.mit.edu	37	17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr17:57093004G>A	ENST00000262294.7	-	21	2802	c.2543C>T	c.(2542-2544)gCg>gTg	p.A848V	TRIM37_ENST00000393065.2_Missense_Mutation_p.A814V|TRIM37_ENST00000376149.3_Missense_Mutation_p.A726V|TRIM37_ENST00000393066.3_Missense_Mutation_p.A848V	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	848						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.A848V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCTCAACCGCAGGCAAGCC	0.398		NA							Mulibrey Nanism					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)											125	133	130			NA	NA	17		NA											NA				57093004		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395	4591	4591		Tripartite motif containing / Tripartite motif containing, RING-type (C3HC4) zinc fingers	7523	protein-coding gene	gene with protein product	RING-B-box-coiled-coil protein	605073	tripartite motif-containing 37	MUL	NA	9106536, 10888877	Standard	NM_015294	NM_015294	NA	Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2543C>T	17.37:g.57093004G>A	ENSP00000262294:p.Ala848Val	NA	Q7Z3E6|Q8IYF7|Q8WYF7	37	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.661961	0.29515	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.93	2.9	0.33743	.	0.843050	0.10578	N	0.658234	T	0.21267	0.0512	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.17531	-1.0366	10	0.48119	T	0.1	-0.0368	9.163	0.37035	0.1801:0.0:0.8199:0.0	.	814;726;848	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	V	848;848;726;814	ENSP00000376785:A848V;ENSP00000262294:A848V;ENSP00000365319:A726V;ENSP00000376784:A814V	ENSP00000262294:A848V	A	-	2	0	TRIM37	54447786	0.197000	0.23362	0.437000	0.26809	0.721000	0.41392	1.507000	0.35758	1.082000	0.41137	0.313000	0.20887	GCG	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445930.1		-	ENST00000262294.7	Missense_Mutation	SNP	17 : 57093004 - 57093004 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	792	7
TTN	7273	broad.mit.edu	37	2	179418445	179418445	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:179418445C>A	ENST00000589042.1	-	334	89511	c.89287G>T	c.(89287-89289)Ggc>Tgc	p.G29763C	TTN_ENST00000342992.6_Missense_Mutation_p.G27195C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20698C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20823C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20890C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G28122C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28122							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGCACTGCCCCCATCATAG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	83	83			NA	NA	2		NA											NA				179418445		2032	4193	6225	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.89287G>T	2.37:g.179418445C>A	ENSP00000467141:p.Gly29763Cys	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939712	0.73557	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84297	0.5441	H	0.95079	3.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88293	0.2944	9	0.87932	D	0	.	19.9823	0.97331	0.0:1.0:0.0:0.0	.	20698;20823;20890;28122	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	27195;20698;20890;20823;20695	ENSP00000343764:G27195C;ENSP00000434586:G20698C;ENSP00000340554:G20890C;ENSP00000352154:G20823C	ENSP00000340554:G20890C	G	-	1	0	TTN	179126691	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	GGC	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179418445 - 179418445 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	306	6
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C	rs145686658	by1000genomes	TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	urinary_tract(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874	55253	55253			25598	protein-coding gene	gene with protein product	tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)	611243	radical S-adenosyl methionine and flavodoxin domains 1	RSAFD1	NA	16162496, 17150819	Standard	NM_018264	NM_018264	NA	Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.435T>C	7.37:g.66479413T>C		NA	Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	37	CCDS5538.1																																																																																			TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251932.2		+	ENST00000359626.5	Silent	SNP	7 : 66479413 - 66479413 C PAAD-TCGA-RB-A7B8-Tumor-SM-54377	719	6
VPS37D	155382	broad.mit.edu	37	7	73085559	73085559	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr7:73085559C>T	ENST00000324941.4	+	4	743	c.609C>T	c.(607-609)gcC>gcT	p.A203A	VPS37D_ENST00000451519.1_Silent_p.A118A	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN	vacuolar protein sorting 37 homolog D (S. cerevisiae)	203					cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCACTGGGGCCGCCCGGGGGC	0.766		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													4	5	5			NA	NA	7		NA											NA				73085559		1415	3308	4723	SO:0001819	synonymous_variant			AY081952	CCDS43596.1	7q11.23	2007-07-27	2006-04-04	2005-08-18	ENSG00000176428	ENSG00000176428	155382	155382			18287	protein-coding gene	gene with protein product		610039	Williams Beuren syndrome chromosome region 24, vacuolar protein sorting 37D (yeast)	WBSCR24	NA	15218037	Standard	NM_152560	NM_001077621	NA	Approved	MGC35352	uc003tyr.3	Q86XT2	OTTHUMG00000157227	ENST00000324941.4:c.609C>T	7.37:g.73085559C>T		NA	Q6P2C3	37	CCDS43596.1																																																																																			VPS37D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000348064.1		+	ENST00000324941.4	Silent	SNP	7 : 73085559 - 73085559 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	82	6
VWA3B	200403	broad.mit.edu	37	2	98736133	98736133	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr2:98736133G>A	ENST00000477737.1	+	4	653	c.449G>A	c.(448-450)gGc>gAc	p.G150D	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Missense_Mutation_p.G150D	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	150										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GATTTTGGCGGCATTCTGGAG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	187	189			NA	NA	2		NA											NA				98736133		1991	4149	6140	SO:0001583	missense			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658	200403	200403			28385	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144992	NM_144992	NA	Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.449G>A	2.37:g.98736133G>A	ENSP00000417955:p.Gly150Asp	NA	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	1.464	-0.561569	0.03939	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	T;T	0.35973	1.28;1.28	6.02	-3.25	0.05079	.	1.332560	0.04551	N	0.389819	T	0.19967	0.0480	N	0.17474	0.49	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.13407	0.009;0.002	T	0.17501	-1.0367	10	0.32370	T	0.25	.	4.4567	0.11647	0.553:0.1139:0.2439:0.0893	.	150;150	Q502W6;Q502W6-8	VWA3B_HUMAN;.	D	150	ENSP00000401959:G150D;ENSP00000417955:G150D	ENSP00000411168:G150D	G	+	2	0	VWA3B	98102565	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	0.140000	0.16056	-0.462000	0.06984	-0.150000	0.13652	GGC	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353469.2		+	ENST00000477737.1	Missense_Mutation	SNP	2 : 98736133 - 98736133 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	1056	7
WWP1	11059	broad.mit.edu	37	8	87423766	87423766	+	Splice_Site	SNP	G	G	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr8:87423766G>T	ENST00000517970.1	+	9	1031		c.e9-1		WWP1_ENST00000341922.2_Splice_Site|WWP1_ENST00000349423.2_Splice_Site|WWP1_ENST00000265428.4_Splice_Site	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	NA					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TCCCTTCTCAGTTAATGGAGA	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	82			NA	NA	8		NA											NA				87423766		2203	4300	6503	SO:0001630	splice_region_variant			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124	11059	11059			17004	protein-coding gene	gene with protein product		602307			NA	9169421, 9647693	Standard	NM_007013	NM_007013	NA	Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.725-1G>T	8.37:g.87423766G>T		NA	O00307|Q96BP4	37	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930378	0.52866	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1564	0.86792	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWP1	87492882	1.000000	0.71417	0.992000	0.48379	0.603000	0.37013	4.394000	0.59671	2.492000	0.84095	0.650000	0.86243	.	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374755.1	Intron	+	ENST00000517970.1	Splice_Site	SNP	8 : 87423766 - 87423766 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	361	8
ZBTB38	253461	broad.mit.edu	37	3	141163339	141163339	+	Silent	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr3:141163339C>T	ENST00000514251.1	+	4	2388	c.2109C>T	c.(2107-2109)gcC>gcT	p.A703A	ZBTB38_ENST00000441582.2_Silent_p.A703A|ZBTB38_ENST00000321464.5_Silent_p.A704A			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	703					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTGAGAATGCCGCCTCTGTGA	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	83	82			NA	NA	3		NA											NA				141163339		2051	4205	6256	SO:0001819	synonymous_variant			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311	253461	253461		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	26636	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 171	612218			NA	12477932	Standard		NM_001080412	NA	Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2109C>T	3.37:g.141163339C>T		NA	D3DNF6	37	CCDS43157.1																																																																																			ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000359329.2		+	ENST00000514251.1	Silent	SNP	3 : 141163339 - 141163339 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	867	64
ZC3H12C	85463	broad.mit.edu	37	11	110036119	110036119	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr11:110036119G>A	ENST00000528673.1	+	6	2391	c.2312G>A	c.(2311-2313)cGc>cAc	p.R771H	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.R739H|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R770H			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	770							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CCTTATTCCCGCCAGGAAGGC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	103	102			NA	NA	11		NA											NA				110036119		1973	4173	6146	SO:0001583	missense				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289	85463	85463		Zinc fingers, CCCH-type domain containing	29362	protein-coding gene	gene with protein product	MCP induced protein 3	615001			NA	11214970, 18178554	Standard	NM_033390	NM_033390	NA	Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000528673.1:c.2312G>A	11.37:g.110036119G>A	ENSP00000431821:p.Arg771His	NA		37		.	.	.	.	.	.	.	.	.	.	G	10.83	1.459973	0.26248	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.31769	1.48;1.48;1.48	5.92	5.92	0.95590	.	0.526358	0.22068	N	0.065080	T	0.26231	0.0640	L	0.29908	0.895	0.36328	D	0.858707	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.16778	-1.0391	10	0.14656	T	0.56	-14.1476	20.3206	0.98668	0.0:0.0:1.0:0.0	.	771;770;770	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	H	770;771;739	ENSP00000278590:R770H;ENSP00000431821:R771H;ENSP00000413094:R739H	ENSP00000278590:R770H	R	+	2	0	ZC3H12C	109541329	0.997000	0.39634	0.996000	0.52242	0.081000	0.17604	2.472000	0.45136	2.809000	0.96659	0.655000	0.94253	CGC	ZC3H12C-003	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390492.1		+	ENST00000528673.1	Missense_Mutation	SNP	11 : 110036119 - 110036119 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	482	10
ZNF280B	140883	broad.mit.edu	37	22	22842836	22842836	+	Missense_Mutation	SNP	T	T	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:22842836T>A	ENST00000406426.1	-	4	1630	c.888A>T	c.(886-888)gaA>gaT	p.E296D	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E296D			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCGGCTGCCCTTCTCCTTTAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	121	124			NA	NA	22		NA											NA				22842836		2203	4300	6503	SO:0001583	missense			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004	140883	140883			23022	protein-coding gene	gene with protein product			zinc finger protein 279, suppressor of hairy wing homolog 2 (Drosophila)	ZNF279, SUHW2	NA	9074928	Standard	NM_080764	NM_080764	NA	Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.888A>T	22.37:g.22842836T>A	ENSP00000385998:p.Glu296Asp	NA		37	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	A	0.519	-0.862982	0.02610	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.02737	4.18;4.18	4.43	0.414	0.16406	.	.	.	.	.	T	0.00936	0.0031	N	0.01482	-0.84	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46470	-0.9189	9	0.02654	T	1	-0.9308	4.0725	0.09889	0.534:0.0:0.3014:0.1646	.	296	Q86YH2	Z280B_HUMAN	D	296	ENSP00000385998:E296D;ENSP00000353586:E296D	ENSP00000353586:E296D	E	-	3	2	ZNF280B	21172836	0.038000	0.19896	0.055000	0.19348	0.896000	0.52359	0.181000	0.16880	-0.387000	0.07809	-1.030000	0.02411	GAA	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321170.2		-	ENST00000406426.1	Missense_Mutation	SNP	22 : 22842836 - 22842836 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	628	6
ZNF606	80095	broad.mit.edu	37	19	58490664	58490664	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:58490664C>T	ENST00000341164.4	-	7	2004	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	ZNF606_ENST00000536132.1_Missense_Mutation_p.G372R	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAGGCTTTTCCACATTTATTA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	61	59			NA	NA	19		NA											NA				58490664		2203	4299	6502	SO:0001583	missense			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704	80095	80095		Zinc fingers, C2H2-type, -	25879	protein-coding gene	gene with protein product		613905		ZNF328	NA	11347906	Standard	NM_025027	XM_005259276	NA	Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1384G>A	19.37:g.58490664C>T	ENSP00000343617:p.Gly462Arg	NA	A8KAN2|Q8NE04|Q96JH5	37	CCDS12968.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223390	0.58668	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.01484	4.84;4.84;4.84	4.55	4.55	0.56014	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000365	T	0.08935	0.0221	M	0.67517	2.055	0.53688	D	0.999976	D	0.89917	1.0	D	0.68483	0.958	T	0.01648	-1.1304	10	0.66056	D	0.02	.	16.585	0.84725	0.0:1.0:0.0:0.0	.	462	Q8WXB4	ZN606_HUMAN	R	462;372;462	ENSP00000343617:G462R;ENSP00000445624:G372R;ENSP00000446972:G462R	ENSP00000343617:G462R	G	-	1	0	ZNF606	63182476	0.976000	0.34144	1.000000	0.80357	0.997000	0.91878	2.375000	0.44283	2.515000	0.84797	0.655000	0.94253	GGA	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405961.1		-	ENST00000341164.4	Missense_Mutation	SNP	19 : 58490664 - 58490664 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	311	44
ZNF646	9726	broad.mit.edu	37	16	31089682	31089682	+	Silent	SNP	C	C	T	rs145751871		TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr16:31089682C>T	ENST00000394979.2	+	1	2460	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G	ZNF646_ENST00000300850.5_Silent_p.G679G			O15015	ZN646_HUMAN	zinc finger protein 646	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGCGGGCTGGCGGTGCCAGCG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	33	30			NA	NA	16		NA											NA				31089682		2195	4289	6484	SO:0001819	synonymous_variant			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395	9726	9726		Zinc fingers, C2H2-type	29004	protein-coding gene	gene with protein product					NA		Standard	NM_014699	NM_014699	NA	Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2037C>T	16.37:g.31089682C>T		NA	Q8IVD8	37																																																																																				ZNF646-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000108510.2		+	ENST00000394979.2	Silent	SNP	16 : 31089682 - 31089682 T PAAD-TCGA-RB-A7B8-Tumor-SM-54377	347	5
ZNRF3	84133	broad.mit.edu	37	22	29439358	29439358	+	Silent	SNP	G	G	A			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr22:29439358G>A	ENST00000544604.2	+	4	748	c.573G>A	c.(571-573)ctG>ctA	p.L191L	ZNRF3_ENST00000406323.3_Silent_p.L91L|ZNRF3_ENST00000402174.1_Silent_p.L91L|ZNRF3_ENST00000332811.4_Silent_p.L91L	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	191						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCATTAAGCTGATGAACATCG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	106	103			NA	NA	22		NA											NA				29439358		2032	4186	6218	SO:0001819	synonymous_variant			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579	84133	84133		RING-type (C3HC4) zinc fingers	18126	protein-coding gene	gene with protein product		612062			NA	10574461	Standard	XM_290972	NM_032173	NA	Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.573G>A	22.37:g.29439358G>A		NA	Q6ICH1|Q6NTF8|Q8WU18	37	CCDS56225.1																																																																																			ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320943.2		+	ENST00000544604.2	Silent	SNP	22 : 29439358 - 29439358 A PAAD-TCGA-RB-A7B8-Tumor-SM-54377	428	6
ZSCAN5A	79149	broad.mit.edu	37	19	56733491	56733491	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:56733491T>C	ENST00000592355.1	-	5	1002	c.941A>G	c.(940-942)gAa>gGa	p.E314G	ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E169G|ZSCAN5A_ENST00000587340.1_Missense_Mutation_p.E315G|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E198G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E315G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	315					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGTGTGGCTTCTCCTTGAGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	81	80			NA	NA	19		NA											NA				56733491		2203	4298	6501	SO:0001583	missense			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848	79149	79149		-, Zinc fingers, C2H2-type	23710	protein-coding gene	gene with protein product			zinc finger protein 495, zinc finger and SCAN domain containing 5	ZNF495, ZSCAN5	NA		Standard	NM_024303	NM_024303	NA	Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000592355.1:c.941A>G	19.37:g.56733491T>C	ENSP00000467238:p.Glu314Gly	NA	Q49A73|Q53F04|Q8N7B3	37		.	.	.	.	.	.	.	.	.	.	T	0.006	-2.057961	0.00390	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06687	3.29;3.27	2.27	-4.53	0.03462	.	.	.	.	.	T	0.01870	0.0059	N	0.00859	-1.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40850	-0.9541	9	0.28530	T	0.3	.	2.0171	0.03500	0.1387:0.2122:0.138:0.5111	.	198;315	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	G	315;198	ENSP00000375593:E315G;ENSP00000254165:E198G	ENSP00000254165:E198G	E	-	2	0	ZSCAN5A	61425303	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.774000	0.01784	-1.795000	0.01255	-1.066000	0.02275	GAA	ZSCAN5A-001	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458109.1		-	ENST00000592355.1	Missense_Mutation	SNP	19 : 56733491 - 56733491 C PAAD-TCGA-RB-A7B8-Tumor-SM-54377	567	8
ZSCAN5A	79149	broad.mit.edu	37	19	56733503	56733503	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-A7B8-01A-12D-A33T-08	TCGA-RB-A7B8-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	6e601f5b-bebf-4205-9a88-48e18d07178c	8244dc39-8b03-44b8-bdee-7bf0c4d51f66	g.chr19:56733503T>C	ENST00000592355.1	-	5	990	c.929A>G	c.(928-930)gAg>gGg	p.E310G	ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.E165G|ZSCAN5A_ENST00000587340.1_Missense_Mutation_p.E311G|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.E194G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.E311G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	311					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCTTGAGGCTCTTCTTGGGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	84	83			NA	NA	19		NA											NA				56733503		2203	4297	6500	SO:0001583	missense			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848	79149	79149		-, Zinc fingers, C2H2-type	23710	protein-coding gene	gene with protein product			zinc finger protein 495, zinc finger and SCAN domain containing 5	ZNF495, ZSCAN5	NA		Standard	NM_024303	NM_024303	NA	Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000592355.1:c.929A>G	19.37:g.56733503T>C	ENSP00000467238:p.Glu310Gly	NA	Q49A73|Q53F04|Q8N7B3	37		.	.	.	.	.	.	.	.	.	.	T	0.370	-0.934381	0.02340	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06687	3.27;3.28	1.69	-3.36	0.04913	.	.	.	.	.	T	0.02571	0.0078	N	0.04162	-0.26	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44019	-0.9355	9	0.21014	T	0.42	.	0.2751	0.00237	0.2176:0.2585:0.1643:0.3596	.	194;311	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	G	311;194	ENSP00000375593:E311G;ENSP00000254165:E194G	ENSP00000254165:E194G	E	-	2	0	ZSCAN5A	61425315	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.487000	0.02310	-0.908000	0.03857	-0.366000	0.07423	GAG	ZSCAN5A-001	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000458109.1		-	ENST00000592355.1	Missense_Mutation	SNP	19 : 56733503 - 56733503 C PAAD-TCGA-RB-A7B8-Tumor-SM-54377	592	9
