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
ARMC12	221481	broad.mit.edu	37	6	35716363	35716363	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:35716363C>T	ENST00000373866.3	+	6	761	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	ARMC12_ENST00000373869.3_Missense_Mutation_p.L237F|ARMC12_ENST00000288065.2_Missense_Mutation_p.L274F			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	247							binding				NA						GTCAGGGAGTCTCCTGTATGA	0.507		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	6		NA											NA				35716363		2203	4300	6503	SO:0001583	missense			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343	221481	221481		Armadillo repeat containing	21099	protein-coding gene	gene with protein product			chromosome 6 open reading frame 81	C6orf81	NA		Standard	NM_145028	XM_005248920	NA	Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.739C>T	6.37:g.35716363C>T	ENSP00000362973:p.Leu247Phe	NA	Q8NEB2|Q96LL8	37		.	.	.	.	.	.	.	.	.	.	C	18.57	3.652172	0.67472	.	.	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.32753	1.44;1.5;1.5	5.0	4.12	0.48240	.	0.000000	0.43416	D	0.000569	T	0.28067	0.0692	L	0.29908	0.895	0.33946	D	0.643809	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.17137	-1.0379	10	0.54805	T	0.06	.	10.8438	0.46730	0.0:0.9094:0.0:0.0906	.	237;274	Q5T9G4-3;Q5T9G4-2	.;.	F	237;274;247	ENSP00000362976:L237F;ENSP00000288065:L274F;ENSP00000362973:L247F	ENSP00000288065:L274F	L	+	1	0	C6orf81	35824341	0.997000	0.39634	1.000000	0.80357	0.904000	0.53231	0.781000	0.26774	1.093000	0.41377	0.650000	0.86243	CTC	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000040311.2		+	ENST00000373866.3	Missense_Mutation	SNP	6 : 35716363 - 35716363 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	441	24
ATP12A	479	broad.mit.edu	37	13	25263488	25263488	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr13:25263488C>T	ENST00000381946.3	+	5	688	c.521C>T	c.(520-522)tCc>tTc	p.S174F	ATP12A_ENST00000218548.6_Missense_Mutation_p.S174F			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	174					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AACATCATGTCCAGCTTCAAT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(156;1582 1935 18898 22665 26498)							NA				0													198	181	187			NA	NA	13		NA											NA				25263488		2203	4300	6503	SO:0001583	missense			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	479	479	3.6.3.10	ATPases / P-type	13816	protein-coding gene	gene with protein product	ATPase, Na+K+ transporting, alpha-1 polypeptide-like, potassium-transporting ATPase alpha chain 2, proton pump, non-gastric H(+)/K(+) ATPase alpha subunit, sodium/potassium ATPase, alpha polypeptide-like	182360	ATPase, Na+/K+ transporting, alpha polypeptide-like 1	ATP1AL1	NA	8838794, 2842249	Standard	NM_001676	NM_001676	NA	Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.521C>T	13.37:g.25263488C>T	ENSP00000371372:p.Ser174Phe	NA	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091802	0.55968	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.89050	-2.46;-2.46	5.14	5.14	0.70334	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.320771	0.30101	N	0.010404	D	0.89431	0.6713	M	0.64404	1.975	0.28626	N	0.907899	P;P	0.37612	0.531;0.602	B;B	0.42282	0.382;0.378	D	0.87031	0.2135	10	0.87932	D	0	.	16.1375	0.81497	0.0:1.0:0.0:0.0	.	174;174	P54707-2;P54707	.;AT12A_HUMAN	F	174	ENSP00000218548:S174F;ENSP00000371372:S174F	ENSP00000218548:S174F	S	+	2	0	ATP12A	24161488	0.998000	0.40836	1.000000	0.80357	0.960000	0.62799	3.379000	0.52440	2.680000	0.91292	0.561000	0.74099	TCC	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044199.1		+	ENST00000381946.3	Missense_Mutation	SNP	13 : 25263488 - 25263488 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	371	16
ATP4A	495	broad.mit.edu	37	19	36050774	36050774	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:36050774C>T	ENST00000262623.3	-	7	1017	c.989G>A	c.(988-990)cGg>cAg	p.R330Q		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	330					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GACCATGGCCCGCAGGAAGGT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	68	73			NA	NA	19		NA											NA				36050774		2203	4300	6503	SO:0001583	missense				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	495	495	3.6.3.10	ATPases / P-type	819	protein-coding gene	gene with protein product	gastric H,K-ATPase alpha subunit, H(+)-K(+)-ATPase alpha subunit, proton pump	137216			NA	1330887	Standard	NM_000704	NM_000704	NA	Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.989G>A	19.37:g.36050774C>T	ENSP00000262623:p.Arg330Gln	NA	O00738	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282969	0.59867	.	.	ENSG00000105675	ENST00000262623	D	0.88354	-2.37	3.83	3.83	0.44106	ATPase, P-type, ATPase-associated domain (1);	0.181592	0.34223	N	0.004155	T	0.79203	0.4406	N	0.10874	0.06	0.36501	D	0.869005	B	0.27264	0.173	B	0.29716	0.106	T	0.80504	-0.1353	10	0.40728	T	0.16	.	13.5911	0.61961	0.0:1.0:0.0:0.0	.	330	P20648	ATP4A_HUMAN	Q	330	ENSP00000262623:R330Q	ENSP00000262623:R330Q	R	-	2	0	ATP4A	40742614	0.048000	0.20356	1.000000	0.80357	0.997000	0.91878	2.051000	0.41307	2.146000	0.66826	0.561000	0.74099	CGG	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109470.2		-	ENST00000262623.3	Missense_Mutation	SNP	19 : 36050774 - 36050774 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	270	56
ATP9A	10079	broad.mit.edu	37	20	50238628	50238635	+	Frame_Shift_Del	DEL	GATGTCTT	GATGTCTT	-			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	GATGTCTT	GATGTCTT	-	-	GATGTCTT	GATGTCTT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr20:50238628_50238635delGATGTCTT	ENST00000338821.5	-	19	2357_2364	c.2093_2100delAAGACATC	c.(2092-2100)caagacatcfs	p.QDI698fs	ATP9A_ENST00000311637.5_Frame_Shift_Del_p.QDI562fs|ATP9A_ENST00000402822.1_Frame_Shift_Del_p.QDI577fs	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	698					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAAAAACGTGGATGTCTTGGTTTCTGGT	0.51		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:0001589	frameshift_variant			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793	10079	10079		ATPases / P-type	13540	protein-coding gene	gene with protein product		609126	ATPase, Class II, type 9A		NA	9734811, 11015572	Standard	NM_006045	NM_006045	NA	Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2093_2100delAAGACATC	20.37:g.50238628_50238635delGATGTCTT	ENSP00000342481:p.Gln698fs	NA	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	37	CCDS33489.1																																																																																			ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000106494.1		-	ENST00000338821.5	Frame_Shift_Del	DEL	20 : 50238628 - 50238635 - PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	520	35
ATR	545	broad.mit.edu	37	3	142281392	142281392	+	Silent	SNP	A	A	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:142281392A>G	ENST00000350721.4	-	4	973	c.852T>C	c.(850-852)gaT>gaC	p.D284D	ATR_ENST00000383101.3_Silent_p.D284D	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	284					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATTGGTCAGTATCCATTTCTA	0.348		NA						Other conserved DNA damage response genes						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	89	87			NA	NA	3		NA											NA				142281392		2202	4300	6502	SO:0001819	synonymous_variant			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054	545	545			882	protein-coding gene	gene with protein product	MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)	601215	ataxia telangiectasia and Rad3 related		NA	8978690, 8610130	Standard	NM_001184	NM_001184	NA	Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.852T>C	3.37:g.142281392A>G		NA	Q59HB2|Q7KYL3|Q93051|Q9BXK4	37	CCDS3124.1																																																																																			ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353995.2		-	ENST00000350721.4	Silent	SNP	3 : 142281392 - 142281392 G PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	779	58
BANP	54971	broad.mit.edu	37	16	88066732	88066732	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:88066732C>T	ENST00000393207.1	+	9	1278	c.1057C>T	c.(1057-1059)Cca>Tca	p.P353S	BANP_ENST00000355022.4_Missense_Mutation_p.P322S|BANP_ENST00000355163.5_Missense_Mutation_p.P328S|BANP_ENST00000393208.2_Missense_Mutation_p.P322S|BANP_ENST00000479780.2_Missense_Mutation_p.P322S|BANP_ENST00000286122.7_Missense_Mutation_p.P353S|BANP_ENST00000538234.1_Missense_Mutation_p.P361S	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	353	DNA-binding (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GATGAGCACCCCACCTCCTGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													29	25	26			NA	NA	16		NA											NA				88066732		2198	4300	6498	SO:0001583	missense			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530	54971	54971		BEN domain containing	13450	protein-coding gene	gene with protein product	BEN domain containing 1	611564			NA	10940556, 10950932	Standard	NM_017869	NM_017869	NA	Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1057C>T	16.37:g.88066732C>T	ENSP00000376902:p.Pro353Ser	NA	A8MU25|A8MX25|Q96GJ7|Q9NWY1	37	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	C	7.093	0.572586	0.13623	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	.	.	.	4.28	1.91	0.25777	.	0.524714	0.20730	N	0.086739	T	0.34106	0.0886	N	0.19112	0.55	0.28197	N	0.927508	B;B;B;D;B;B	0.76494	0.02;0.042;0.001;0.999;0.002;0.359	B;B;B;D;B;B	0.79784	0.024;0.08;0.001;0.993;0.002;0.167	T	0.17776	-1.0358	9	0.09590	T	0.72	.	6.988	0.24739	0.1477:0.4406:0.4117:0.0	.	361;328;322;353;322;322	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	S	353;328;318;322;322;322;322;361;353	.	ENSP00000286122:P353S	P	+	1	0	BANP	86624233	0.387000	0.25188	0.864000	0.33941	0.030000	0.12068	1.150000	0.31639	0.894000	0.36317	0.305000	0.20034	CCA	BANP-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269166.1		+	ENST00000393207.1	Missense_Mutation	SNP	16 : 88066732 - 88066732 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	247	16
BTF3	689	broad.mit.edu	37	5	72798334	72798334	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:72798334A>G	ENST00000380591.3	+	3	442	c.223A>G	c.(223-225)Aag>Gag	p.K75E	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Missense_Mutation_p.K31E	NM_001037637.1	NP_001032726.1	P20290	BTF3_HUMAN	basic transcription factor 3	75				Missing (in Ref. 2; AAA58398).	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CAGAAAGAAGAAGGTGGTTCA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	5		NA											NA				72798334		2203	4300	6503	SO:0001583	missense			M90352	CCDS4019.1, CCDS34185.1	5q13.3	2010-06-17			ENSG00000145741	ENSG00000145741	689	689			1125	protein-coding gene	gene with protein product		602542	nascent-polypeptide-associated complex beta polypeptide	NACB	NA	2320128, 1386332, 15716105	Standard	NM_001207	NM_001207	NA	Approved	BTF3a, BTF3b	uc003kcr.1	P20290	OTTHUMG00000102031	ENST00000380591.3:c.223A>G	5.37:g.72798334A>G	ENSP00000369965:p.Lys75Glu	NA	A8K510|Q13893|Q76M56	37	CCDS34185.1	.	.	.	.	.	.	.	.	.	.	A	32	5.119843	0.94385	.	.	ENSG00000145741	ENST00000335895;ENST00000380591	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	U	0.000000	T	0.55401	0.1918	M	0.64404	1.975	0.80722	D	1	P	0.36647	0.563	B	0.32022	0.139	T	0.62320	-0.6879	9	0.87932	D	0	-11.6055	15.9962	0.80250	1.0:0.0:0.0:0.0	.	75	P20290	BTF3_HUMAN	E	31;75	.	ENSP00000338516:K31E	K	+	1	0	BTF3	72834090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.252000	0.95491	2.234000	0.73211	0.533000	0.62120	AAG	BTF3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219816.1		+	ENST00000380591.3	Missense_Mutation	SNP	5 : 72798334 - 72798334 G PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	223	36
BTF3	689	broad.mit.edu	37	5	72798335	72798335	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:72798335A>T	ENST00000380591.3	+	3	443	c.224A>T	c.(223-225)aAg>aTg	p.K75M	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Missense_Mutation_p.K31M	NM_001037637.1	NP_001032726.1	P20290	BTF3_HUMAN	basic transcription factor 3	75				Missing (in Ref. 2; AAA58398).	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		AGAAAGAAGAAGGTGGTTCAT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	57	57			NA	NA	5		NA											NA				72798335		2203	4300	6503	SO:0001583	missense			M90352	CCDS4019.1, CCDS34185.1	5q13.3	2010-06-17			ENSG00000145741	ENSG00000145741	689	689			1125	protein-coding gene	gene with protein product		602542	nascent-polypeptide-associated complex beta polypeptide	NACB	NA	2320128, 1386332, 15716105	Standard	NM_001207	NM_001207	NA	Approved	BTF3a, BTF3b	uc003kcr.1	P20290	OTTHUMG00000102031	ENST00000380591.3:c.224A>T	5.37:g.72798335A>T	ENSP00000369965:p.Lys75Met	NA	A8K510|Q13893|Q76M56	37	CCDS34185.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.775465	0.90108	.	.	ENSG00000145741	ENST00000335895;ENST00000380591	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	U	0.000000	T	0.77412	0.4126	M	0.81112	2.525	0.80722	D	1	D	0.64830	0.994	P	0.58391	0.838	T	0.81335	-0.0979	9	0.87932	D	0	-11.6055	15.9962	0.80250	1.0:0.0:0.0:0.0	.	75	P20290	BTF3_HUMAN	M	31;75	.	ENSP00000338516:K31M	K	+	2	0	BTF3	72834091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.252000	0.95491	2.234000	0.73211	0.533000	0.62120	AAG	BTF3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219816.1		+	ENST00000380591.3	Missense_Mutation	SNP	5 : 72798335 - 72798335 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	221	36
BZRAP1	9256	broad.mit.edu	37	17	56390036	56390036	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:56390036C>G	ENST00000268893.6	-	16	2805	c.1966G>C	c.(1966-1968)Gag>Cag	p.E656Q	BZRAP1_ENST00000355701.3_Missense_Mutation_p.E716Q|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E716Q	NM_024418.2	NP_077729.1	O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	716	SH3 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACACACGCTCTACAAAATTG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	38	38			NA	NA	17		NA											NA				56390036		2203	4300	6503	SO:0001583	missense			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09				9256	9256			16831	protein-coding gene	gene with protein product		610764			NA	9734811, 9915832	Standard	NM_004758	NM_004758	NA	Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000268893.6:c.1966G>C	17.37:g.56390036C>G	ENSP00000268893:p.Glu656Gln	NA	O75111|Q8N5W3	37	CCDS45742.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825303	0.90955	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.35973	1.28;1.28;1.28	5.67	5.67	0.87782	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.50993	1.605	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.91635	0.993;0.999;0.996	T	0.52313	-0.8592	10	0.48119	T	0.1	.	18.7443	0.91787	0.0:1.0:0.0:0.0	.	716;656;716	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	Q	716;716;656	ENSP00000347929:E716Q;ENSP00000345824:E716Q;ENSP00000268893:E656Q	ENSP00000268893:E656Q	E	-	1	0	BZRAP1	53745035	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.818000	0.86416	2.677000	0.91161	0.462000	0.41574	GAG	BZRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000443978.1		-	ENST00000268893.6	Missense_Mutation	SNP	17 : 56390036 - 56390036 G PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	255	24
C1QTNF6	114904	broad.mit.edu	37	22	37578651	37578651	+	Silent	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr22:37578651C>T	ENST00000337843.2	-	3	489	c.414G>A	c.(412-414)ccG>ccA	p.P138P	C1QTNF6_ENST00000255836.6_Intron|C1QTNF6_ENST00000397110.2_Silent_p.P138P|C1QTNF6_ENST00000470655.1_Intron|RP1-151B14.6_ENST00000419128.1_RNA	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	119	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GCTTCTGGCACGGGGCGCCGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	34	33			NA	NA	22		NA											NA				37578651		2203	4300	6503	SO:0001819	synonymous_variant			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466	114904	114904			14343	protein-coding gene	gene with protein product		614910			NA	12975309	Standard	NM_182486	NM_031910	NA	Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.414G>A	22.37:g.37578651C>T		NA	Q5H9G8|Q6ZRM7	37	CCDS13943.1																																																																																			C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318807.1		-	ENST00000337843.2	Silent	SNP	22 : 37578651 - 37578651 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	319	15
C6orf201	404220	broad.mit.edu	37	6	4119468	4119468	+	Silent	SNP	C	C	T	rs114924821		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:4119468C>T	ENST00000380175.4	+	4	1049				ECI2_ENST00000413766.2_Silent_p.P112P|ECI2_ENST00000361538.2_Silent_p.P249P|ECI2_ENST00000380118.3_Silent_p.P279P|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Silent_p.P249P|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000465828.1_Silent_p.P249P	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	NA										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGCATCCTTCCGGACTTTGGC	0.363		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	7e-04	SNP								NA				0								C	,,,	0,4406		0,0,2203	86	88	87		,747,747,837	-10.6	0.2	6	dbSNP_133	87	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,coding-synonymous,coding-synonymous	ECI2,C6orf201	NM_001085401.1,NM_001166010.1,NM_006117.2,NM_206836.2	,,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,,	,249/365,249/365,279/395	4119468	1,13005	2203	4300	6503	SO:0001627	intron_variant			BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689	404220	404220			21620	protein-coding gene	gene with protein product					NA		Standard	NM_001085401	NM_001085401	NA	Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.285-2715C>T	6.37:g.4119468C>T		NA	A6NLI6|Q6NXN5	37	CCDS43419.1																																																																																			C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000314019.2		+	ENST00000380175.4	Intron	SNP	6 : 4119468 - 4119468 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	290	32
CABIN1	23523	broad.mit.edu	37	22	24451432	24451432	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr22:24451432G>A	ENST00000405822.2	+	8	847	c.753G>A	c.(751-753)tcG>tcA	p.S251S	CABIN1_ENST00000398319.2_Silent_p.S301S|CABIN1_ENST00000263119.5_Silent_p.S301S			Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	301					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTGATTTGTCGGACTACCAGG	0.572		NA											G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	4e-04	0.95	EXOME	NA	NA	5e-04	SNP								NA				0								G	,,	1,4405	2.1+/-5.4	0,1,2202	118	105	110		903,753,903	-8.7	0.8	22		110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CABIN1	NM_001199281.1,NM_001201429.1,NM_012295.3	,,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	,,	301/2221,251/2171,301/2221	24451432	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991	23523	23523			24187	protein-coding gene	gene with protein product		604251			NA	9655484, 9205841	Standard	NM_012295	NM_001199281	NA	Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000405822.2:c.753G>A	22.37:g.24451432G>A		NA	Q9Y460	37																																																																																				CABIN1-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000320162.2		+	ENST00000405822.2	Silent	SNP	22 : 24451432 - 24451432 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	427	83
CDHR1	92211	broad.mit.edu	37	10	85974118	85974118	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr10:85974118C>T	ENST00000372117.3	+	17	2424	c.2321C>T	c.(2320-2322)cCc>cTc	p.P774L	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.P478L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	774	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GAGAAACCTCCCAATGAGAAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	79	81			NA	NA	10		NA											NA				85974118		2203	4300	6503	SO:0001583	missense			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600	92211	92211		Cadherins / Cadherin-related	14550	protein-coding gene	gene with protein product		609502	protocadherin 21	PCDH21	NA	11597768	Standard	NM_033100	NM_001171971	NA	Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2321C>T	10.37:g.85974118C>T	ENSP00000361189:p.Pro774Leu	NA	Q69YZ8|Q8IXY5	37	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817901	0.32145	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.55930	0.64;0.49	5.44	4.54	0.55810	.	1.112700	0.06432	N	0.724327	T	0.47525	0.1450	L	0.57536	1.79	0.34497	D	0.705606	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.47971	-0.9075	10	0.21540	T	0.41	-26.0702	5.1749	0.15129	0.1663:0.6647:0.0:0.169	.	478;774	E7EN47;Q96JP9	.;CDHR1_HUMAN	L	774;478	ENSP00000361189:P774L;ENSP00000415980:P478L	ENSP00000361189:P774L	P	+	2	0	CDHR1	85964098	0.576000	0.26700	0.971000	0.41717	0.773000	0.43773	2.688000	0.46984	1.308000	0.44962	0.561000	0.74099	CCC	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049111.1		+	ENST00000372117.3	Missense_Mutation	SNP	10 : 85974118 - 85974118 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	589	11
CTSK	1513	broad.mit.edu	37	1	150776542	150776542	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:150776542C>G	ENST00000271651.3	-	5	683	c.573G>C	c.(571-573)aaG>aaC	p.K191N	CTSK_ENST00000480670.1_5'UTR	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	191					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TACCCCGGTTCTTCTGCACAT	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													183	165	171			NA	NA	1		NA											NA				150776542		2203	4300	6503	SO:0001583	missense			BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387	1513	1513		Cathepsins	2536	protein-coding gene	gene with protein product		601105	cathepsin K (pycnodysostosis)	CTSO2, CTSO, PYCD	NA	7818555	Standard	NM_000396	NM_000396	NA	Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.573G>C	1.37:g.150776542C>G	ENSP00000271651:p.Lys191Asn	NA		37	CCDS969.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.337959	0.41398	.	.	ENSG00000143387	ENST00000271651;ENST00000443913	D;D	0.97710	-4.5;-4.5	5.57	1.37	0.22104	Peptidase C1A, papain C-terminal (2);	0.660593	0.16298	N	0.220576	D	0.89959	0.6866	L	0.39147	1.195	0.33900	D	0.638336	B	0.02656	0.0	B	0.06405	0.002	T	0.81263	-0.1012	10	0.44086	T	0.13	.	4.733	0.12974	0.0:0.4528:0.3003:0.2469	.	191	P43235	CATK_HUMAN	N	191;250	ENSP00000271651:K191N;ENSP00000405083:K250N	ENSP00000271651:K191N	K	-	3	2	CTSK	149043166	0.000000	0.05858	0.992000	0.48379	0.967000	0.64934	-0.585000	0.05794	0.303000	0.22785	-0.251000	0.11542	AAG	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084732.1		-	ENST00000271651.3	Missense_Mutation	SNP	1 : 150776542 - 150776542 G PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	924	71
DCAF8L2	347442	broad.mit.edu	37	X	27766141	27766141	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:27766141G>A	ENST00000451261.2	+	5	1528	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2	NA										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGTGAATCCCGCCAATACCTA	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	80	89			NA	NA	X		NA											NA				27766141		692	1591	2283	SO:0001583	missense				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186	347442	347442		WD repeat domain containing	31811	protein-coding gene	gene with protein product			WD repeat domain 42C	WDR42C	NA		Standard	XM_293354	NM_001136533	NA	Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1129G>A	X.37:g.27766141G>A	ENSP00000462745:p.Ala377Thr	NA		37	CCDS59162.1																																																																																			DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056143.4		+	ENST00000451261.2	Missense_Mutation	SNP	X : 27766141 - 27766141 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	304	8
DLL4	54567	broad.mit.edu	37	15	41224371	41224371	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:41224371A>T	ENST00000249749.5	+	5	937	c.661A>T	c.(661-663)Atc>Ttc	p.I221F		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	221	EGF-like 1.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCCCTTAGCTATCTGTCTTTC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	82	80			NA	NA	15		NA											NA				41224371		2001	4179	6180	SO:0001583	missense			AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917	54567	54567			2910	protein-coding gene	gene with protein product		605185	delta-like 4 homolog (Drosophila)		NA	10837024	Standard		NM_019074	NA	Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.661A>T	15.37:g.41224371A>T	ENSP00000249749:p.Ile221Phe	NA	Q3KP23|Q9NQT9	37	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252334	0.59212	.	.	ENSG00000128917	ENST00000249749	T	0.66815	-0.23	5.74	-1.63	0.08345	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.186750	0.56097	D	0.000028	T	0.65749	0.2721	M	0.86953	2.85	0.36665	D	0.878153	B	0.30179	0.271	B	0.24701	0.055	T	0.67902	-0.5550	10	0.87932	D	0	.	12.0444	0.53471	0.758:0.0:0.242:0.0	.	221	Q9NR61	DLL4_HUMAN	F	221	ENSP00000249749:I221F	ENSP00000249749:I221F	I	+	1	0	DLL4	39011663	0.835000	0.29415	0.968000	0.41197	0.989000	0.77384	0.957000	0.29215	-0.286000	0.09076	0.533000	0.62120	ATC	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000418859.1		+	ENST00000249749.5	Missense_Mutation	SNP	15 : 41224371 - 41224371 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	268	12
DNASE1L1	1774	broad.mit.edu	37	X	153631476	153631476	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:153631476C>T	ENST00000393638.1	-	7	867	c.581G>A	c.(580-582)cGc>cAc	p.R194H	DNASE1L1_ENST00000369809.1_Missense_Mutation_p.R194H	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	194					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGTCCAGGCGCTTTTTGGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	60	60			NA	NA	X		NA											NA				153631476		2203	4300	6503	SO:0001583	missense			L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563	1774	1774			2957	protein-coding gene	gene with protein product	DNase X	300081		DNL1L	NA	8541839, 8654957	Standard		XM_005277829	NA	Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.581G>A	X.37:g.153631476C>T	ENSP00000377255:p.Arg194His	NA	D3DWW7|Q5HY41	37	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278287	0.23307	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585;ENST00000451865	T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;1.41	5.11	3.35	0.38373	Endonuclease/exonuclease/phosphatase (2);	0.664814	0.16178	N	0.225967	T	0.65344	0.2682	L	0.27053	0.805	0.26742	N	0.970362	B	0.32160	0.358	B	0.30105	0.111	T	0.52419	-0.8578	10	0.27785	T	0.31	-14.5753	6.7231	0.23340	0.0:0.698:0.0:0.302	.	194	P49184	DNSL1_HUMAN	H	194	ENSP00000358824:R194H;ENSP00000377255:R194H;ENSP00000014935:R194H;ENSP00000358823:R194H;ENSP00000358822:R194H;ENSP00000309168:R194H;ENSP00000393346:R194H	ENSP00000014935:R194H	R	-	2	0	DNASE1L1	153284670	1.000000	0.71417	0.726000	0.30738	0.133000	0.20885	1.655000	0.37345	0.398000	0.25338	0.597000	0.82753	CGC	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080928.2		-	ENST00000393638.1	Missense_Mutation	SNP	X : 153631476 - 153631476 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	483	156
DPYSL5	56896	broad.mit.edu	37	2	27156166	27156166	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:27156166C>T	ENST00000288699.6	+	7	913	c.755C>T	c.(754-756)tCg>tTg	p.S252L	DPYSL5_ENST00000401478.1_Missense_Mutation_p.S252L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	252					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.S252L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGTATCTCGGCTGGTGAC	0.517		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)						C	LEU/SER	0,4406		0,0,2203	246	178	201		755	6	1	2		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	DPYSL5	NM_020134.3	145	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	252/565	27156166	1,13005	2203	4300	6503	SO:0001583	missense			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851	56896	56896			20637	protein-coding gene	gene with protein product		608383			NA	10851247, 11034345	Standard	NM_020134	NM_020134	NA	Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.755C>T	2.37:g.27156166C>T	ENSP00000288699:p.Ser252Leu	NA	Q8TCL6|Q9NQC4|Q9NRY9	37	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303258	0.81136	0.0	1.16E-4	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.90385	-2.66;-2.66	6.04	6.04	0.98038	Amidohydrolase 1 (1);	0.110781	0.64402	D	0.000007	D	0.87212	0.6121	L	0.48174	1.505	0.46478	D	0.999068	P	0.40360	0.714	B	0.31390	0.129	D	0.87568	0.2476	10	0.54805	T	0.06	-9.1882	19.3507	0.94384	0.0:1.0:0.0:0.0	.	252	Q9BPU6	DPYL5_HUMAN	L	252	ENSP00000288699:S252L;ENSP00000385549:S252L	ENSP00000288699:S252L	S	+	2	0	DPYSL5	27009670	0.999000	0.42202	0.998000	0.56505	0.991000	0.79684	4.261000	0.58841	2.873000	0.98535	0.561000	0.74099	TCG	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214187.2		+	ENST00000288699.6	Missense_Mutation	SNP	2 : 27156166 - 27156166 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	391	60
EPB41L1	2036	broad.mit.edu	37	20	34785959	34785959	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr20:34785959A>G	ENST00000338074.2	+	14	1825	c.1664A>G	c.(1663-1665)aAt>aGt	p.N555S	EPB41L1_ENST00000202028.5_Missense_Mutation_p.N481S|EPB41L1_ENST00000441639.1_Missense_Mutation_p.N481S|EPB41L1_ENST00000373946.3_Missense_Mutation_p.N512S|EPB41L1_ENST00000373950.2_Missense_Mutation_p.N446S|EPB41L1_ENST00000373941.1_Missense_Mutation_p.N555S	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	555					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)					GAGAAAGCCAATGAGGTAGGT	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													21	23	22			NA	NA	20		NA											NA				34785959		2202	4298	6500	SO:0001583	missense			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.1664A>G	20.37:g.34785959A>G	ENSP00000337168:p.Asn555Ser	NA	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	37	CCDS13271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.414|0.414	-0.911860|-0.911860	0.02434|0.02434	.|.	.|.	ENSG00000088367|ENSG00000088367	ENST00000451082|ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941;ENST00000454226	.|D;T;D;D;D;D	.|0.82526	.|-1.54;-1.47;-1.54;-1.62;-1.55;-1.55	5.15|5.15	-0.0314|-0.0314	0.13910|0.13910	.|.	.|0.285159	.|0.37857	.|N	.|0.001905	T|T	0.59155|0.59155	0.2173|0.2173	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B;B	.|0.04013	.|0.0;0.0;0.0;0.001;0.0;0.001	T|T	0.44667|0.44667	-0.9313|-0.9313	5|10	.|0.08837	.|T	.|0.75	.|.	8.306|8.306	0.32042|0.32042	0.3337:0.138:0.5284:0.0|0.3337:0.138:0.5284:0.0	.|.	.|555;555;512;446;446;481	.|B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.|.;E41L1_HUMAN;.;.;.;.	V|S	121|481;446;555;446;481;512;129;555;555;53	.|ENSP00000202028:N481S;ENSP00000363061:N446S;ENSP00000399214:N481S;ENSP00000363057:N512S;ENSP00000337168:N555S;ENSP00000363052:N555S	.|ENSP00000202028:N481S	M|N	+|+	1|2	0|0	EPB41L1|EPB41L1	34249373|34249373	0.013000|0.013000	0.17824|0.17824	0.396000|0.396000	0.26296|0.26296	0.942000|0.942000	0.58702|0.58702	0.227000|0.227000	0.17795|0.17795	-0.280000|-0.280000	0.09154|0.09154	0.533000|0.533000	0.62120|0.62120	ATG|AAT	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078978.3		+	ENST00000338074.2	Missense_Mutation	SNP	20 : 34785959 - 34785959 G PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	250	39
FBXL7	23194	broad.mit.edu	37	5	15937245	15937245	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:15937245C>T	ENST00000504595.1	+	4	1907	c.1426C>T	c.(1426-1428)Cgc>Tgc	p.R476C	FBXL7_ENST00000329673.7_Missense_Mutation_p.R464C|FBXL7_ENST00000510662.1_Missense_Mutation_p.R429C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	476					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R476C(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CTTTGTCAAACGCCACTGCAA	0.577		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)											21	24	23			NA	NA	5		NA											NA				15937245		2120	4246	6366	SO:0001583	missense			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580	23194	23194		F-boxes / Leucine-rich repeats	13604	protein-coding gene	gene with protein product		605656			NA	10048485, 10531035	Standard	NM_012304	NM_012304	NA	Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1426C>T	5.37:g.15937245C>T	ENSP00000423630:p.Arg476Cys	NA	B9EGF1|O94926	37	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928841	0.92389	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.54866	0.55;0.55;0.55	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.65801	0.2726	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	P	0.56216	0.794	T	0.69250	-0.5194	10	0.87932	D	0	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	476	Q9UJT9	FBXL7_HUMAN	C	476;429;464	ENSP00000423630:R476C;ENSP00000425184:R429C;ENSP00000329632:R464C	ENSP00000329632:R464C	R	+	1	0	FBXL7	15990245	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.731000	0.84895	2.521000	0.84997	0.650000	0.86243	CGC	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366117.1		+	ENST00000504595.1	Missense_Mutation	SNP	5 : 15937245 - 15937245 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	124	5
FKBP5	2289	broad.mit.edu	37	6	35604901	35604901	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr6:35604901G>A	ENST00000539068.1	-	3	342	c.140C>T	c.(139-141)cCg>cTg	p.P47L	FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000542713.1_Missense_Mutation_p.P47L|FKBP5_ENST00000357266.4_Missense_Mutation_p.P47L|FKBP5_ENST00000536438.1_Missense_Mutation_p.P47L	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	47	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TCCAATCATCGGCGTTTCCTC	0.338		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9181	EXOME	NA	NA	8e-04	SNP								NA				0								G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	105	97	99		140,140,140,140	5.4	1	6		99	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	FKBP5	NM_001145775.1,NM_001145776.1,NM_001145777.1,NM_004117.3	98,98,98,98	0,2,6501	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	47/458,47/458,47/269,47/458	35604901	2,13004	2203	4300	6503	SO:0001583	missense			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060	2289	2289		Tetratricopeptide (TTC) repeat domain containing	3721	protein-coding gene	gene with protein product		602623	FK506-binding protein 5		NA	9001212	Standard		NM_004117	NA	Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.140C>T	6.37:g.35604901G>A	ENSP00000441205:p.Pro47Leu	NA		37	CCDS4808.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	28.0	4.879464	0.91740	0.0	2.33E-4	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000543400;ENST00000542713;ENST00000373875	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.38	5.38	0.77491	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.000000	0.85682	D	0.000000	D	0.82563	0.5064	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	D	0.88558	0.3121	10	0.87932	D	0	-13.9393	16.0837	0.81023	0.0:0.0:1.0:0.0	.	47;47	F5H7R1;Q13451	.;FKBP5_HUMAN	L	47;47;47;47;10;47;45	ENSP00000444810:P47L;ENSP00000349811:P47L;ENSP00000441205:P47L;ENSP00000442340:P47L	ENSP00000338160:P47L	P	-	2	0	FKBP5	35712879	1.000000	0.71417	0.989000	0.46669	0.953000	0.61014	8.309000	0.89969	2.515000	0.84797	0.655000	0.94253	CCG	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040309.2		-	ENST00000539068.1	Missense_Mutation	SNP	6 : 35604901 - 35604901 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	331	11
FTCD	10841	broad.mit.edu	37	21	47556871	47556871	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr21:47556871C>T	ENST00000397748.1	-	14	1679	c.1636G>A	c.(1636-1638)Gcc>Acc	p.A546T	FTCD_ENST00000359679.2_Missense_Mutation_p.A546T|FTCD_ENST00000355384.2_Intron|FTCD_ENST00000291670.5_Intron|FTCD_ENST00000397746.3_3'UTR|FTCD_ENST00000498355.2_Intron|FTCD_ENST00000397743.1_3'UTR			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	53					folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GAGGGAGGGGCCACAGAGCCC	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	34	34			NA	NA	21		NA											NA				47556871		2202	4300	6502	SO:0001583	missense			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	10841	10841	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	formiminotransferase cyclodeaminase		NA	10029623, 10773664	Standard	NM_006657	NM_006657	NA	Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000397748.1:c.1636G>A	21.37:g.47556871C>T	ENSP00000380856:p.Ala546Thr	NA	B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.26|11.26	1.586703|1.586703	0.28268|0.28268	.|.	.|.	ENSG00000160282|ENSG00000160282	ENST00000397748;ENST00000359679|ENST00000446405	T;T|.	0.73575|.	-0.76;-0.76|.	3.13|3.13	-0.626|-0.626	0.11544|0.11544	.|.	.|.	.|.	.|.	.|.	T|.	0.21387|.	0.0515|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.09022|.	0.002|.	B|.	0.12156|.	0.007|.	T|.	0.25257|.	-1.0137|.	8|.	0.87932|.	D|.	0|.	.|.	3.0486|3.0486	0.06161|0.06161	0.2072:0.4868:0.0:0.3061|0.2072:0.4868:0.0:0.3061	.|.	546|.	O95954-2|.	.|.	T|X	546|86	ENSP00000380856:A546T;ENSP00000352707:A546T|.	ENSP00000352707:A546T|.	A|W	-|-	1|3	0|0	FTCD|FTCD	46381299|46381299	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.035000|0.035000	0.12851|0.12851	-1.894000|-1.894000	0.01607|0.01607	-0.013000|-0.013000	0.14199|0.14199	0.455000|0.455000	0.32223|0.32223	GCC|TGG	FTCD-005	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000206963.1		-	ENST00000397748.1	Missense_Mutation	SNP	21 : 47556871 - 47556871 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	134	42
GAB3	139716	broad.mit.edu	37	X	153927709	153927709	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:153927709C>A	ENST00000369575.3	-	6	1233	c.1202G>T	c.(1201-1203)gGt>gTt	p.G401V	GAB3_ENST00000424127.2_Missense_Mutation_p.G402V|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	401										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACCAGAGGCACCAGCCTGGGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	79	81			NA	NA	X		NA											NA				153927709		2203	4300	6503	SO:0001583	missense			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219	139716	139716		Pleckstrin homology (PH) domain containing	17515	protein-coding gene	gene with protein product	DOS/Gab family member 3, Gab3 scaffolding protein	300482			NA	11739737	Standard	NM_001081573	XM_005274648	NA	Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1202G>T	X.37:g.153927709C>A	ENSP00000358588:p.Gly401Val	NA		37	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341281	0.24339	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.16073	2.37;2.37;2.37	5.85	-4.34	0.03666	.	1.256530	0.05135	N	0.493327	T	0.09202	0.0227	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35226	-0.9797	10	0.51188	T	0.08	-22.0678	6.7413	0.23437	0.3925:0.3004:0.3071:0.0	.	402;402;401	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	V	401;402;402	ENSP00000358588:G401V;ENSP00000358581:G402V;ENSP00000399588:G402V	ENSP00000358581:G402V	G	-	2	0	GAB3	153580903	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	0.182000	0.16900	-1.830000	0.01199	-1.178000	0.01721	GGT	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061192.2		-	ENST00000369575.3	Missense_Mutation	SNP	X : 153927709 - 153927709 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	629	26
GNAO1	2775	broad.mit.edu	37	16	56362667	56362667	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:56362667G>A	ENST00000262494.7	+	4	688	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	GNAO1_ENST00000262493.6_Missense_Mutation_p.R143Q	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	143					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGCTTCAACCGGTCCCGGGAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	74	75			NA	NA	16		NA											NA				56362667		2198	4300	6498	SO:0001583	missense				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258	2775	2775			4389	protein-coding gene	gene with protein product		139311			NA	1899283, 11395521	Standard	NM_020988	NM_020988	NA	Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262494.7:c.428G>A	16.37:g.56362667G>A	ENSP00000262494:p.Arg143Gln	NA	P29777|Q8TD72|Q9UMV4	37	CCDS10757.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486569	0.96323	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.90133	-2.62;-2.62	4.95	4.95	0.65309	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.96182	0.8755	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.96	D	0.97114	0.9806	10	0.87932	D	0	.	18.1807	0.89777	0.0:0.0:1.0:0.0	.	143;143	P09471;P09471-2	GNAO_HUMAN;.	Q	143	ENSP00000262493:R143Q;ENSP00000262494:R143Q	ENSP00000262493:R143Q	R	+	2	0	GNAO1	54920168	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.276000	0.75962	0.462000	0.41574	CGG	GNAO1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256982.2		+	ENST00000262494.7	Missense_Mutation	SNP	16 : 56362667 - 56362667 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	389	92
GPRC5B	51704	broad.mit.edu	37	16	19883726	19883726	+	Missense_Mutation	SNP	G	G	A	rs149830893	by1000genomes	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr16:19883726G>A	ENST00000300571.2	-	2	633	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	GPRC5B_ENST00000569479.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R174W|GPRC5B_ENST00000569847.1_Missense_Mutation_p.R148W|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R148W	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	148										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACCAGCCTCCGCACGCGCCAT	0.677		NA											G	0	0	NA	NA	2184	NA	0.9994	,	,	NA	3e-04	NA	NA	NA	3e-04	0.3958	LOWCOV	NA	NA	3e-04	SNP								NA				0								G	TRP/ARG	1,4387		0,1,2193	26	25	25		442	4.3	0.9	16	dbSNP_134	25	0,8590		0,0,4295	no	missense	GPRC5B	NM_016235.1	101	0,1,6488	AA,AG,GG	NA	0.0,0.0228,0.0077	probably-damaging	148/404	19883726	1,12977	2194	4295	6489	SO:0001583	missense			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191	NA	51704		GPCR / Class C : Orphans	13308	protein-coding gene	gene with protein product		605948	G protein-coupled receptor, family C, group 1, member B, G protein-coupled receptor, family C, group 5, member B		NA	10493829, 10783259	Standard		XM_005255357	NA	Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.442C>T	16.37:g.19883726G>A	ENSP00000300571:p.Arg148Trp	NA	O75205|Q8NBZ8	37	CCDS10581.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	23.0	4.360599	0.82353	2.28E-4	0.0	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000537135	D;D;D	0.88124	-2.34;-2.34;-2.34	5.27	4.31	0.51392	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.90235	0.4282	9	.	.	.	.	14.4869	0.67624	0.0:0.0:0.8522:0.1478	.	174;148	B7Z831;Q9NZH0	.;GPC5B_HUMAN	W	148;148;174	ENSP00000300571:R148W;ENSP00000442858:R148W;ENSP00000441775:R174W	.	R	-	1	2	GPRC5B	19791227	0.997000	0.39634	0.859000	0.33776	0.948000	0.59901	4.463000	0.60128	1.445000	0.47624	0.650000	0.86243	CGG	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254285.1		-	ENST00000300571.2	Missense_Mutation	SNP	16 : 19883726 - 19883726 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	293	12
HCN4	10021	broad.mit.edu	37	15	73615826	73615826	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:73615826C>T	ENST00000261917.3	-	8	3601	c.2608G>A	c.(2608-2610)Gga>Aga	p.G870R		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	870					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGCTCAGTCCAGCGGGGGCA	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	46	45			NA	NA	15		NA											NA				73615826		2197	4294	6491	SO:0001583	missense			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622	10021	10021		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	16882	protein-coding gene	gene with protein product		605206			NA	10228147, 10430953, 16382102	Standard	NM_005477	NM_005477	NA	Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2608G>A	15.37:g.73615826C>T	ENSP00000261917:p.Gly870Arg	NA	Q9UMQ7	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197648	0.22037	.	.	ENSG00000138622	ENST00000261917	T	0.78003	-1.14	3.21	3.21	0.36854	.	.	.	.	.	T	0.78710	0.4326	L	0.36672	1.1	0.41256	D	0.986742	D	0.71674	0.998	D	0.64042	0.921	T	0.76293	-0.3012	9	0.35671	T	0.21	.	10.0634	0.42288	0.2012:0.7988:0.0:0.0	.	870	Q9Y3Q4	HCN4_HUMAN	R	870	ENSP00000261917:G870R	ENSP00000261917:G870R	G	-	1	0	HCN4	71402879	0.140000	0.22579	0.787000	0.31911	0.879000	0.50718	1.447000	0.35101	1.608000	0.50180	0.448000	0.29417	GGA	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268900.2		-	ENST00000261917.3	Missense_Mutation	SNP	15 : 73615826 - 73615826 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	270	12
HDAC4	9759	broad.mit.edu	37	2	240061399	240061399	+	Missense_Mutation	SNP	A	A	G	rs144813118	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:240061399A>G	ENST00000345617.3	-	9	1750	c.959T>C	c.(958-960)gTc>gCc	p.V320A	HDAC4_ENST00000541256.1_Missense_Mutation_p.V289A|HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	320					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GATGCTGGGGACGGCGGGCGC	0.657		NA											A	2	9e-04	0.0041	NA	2184	NA	0.9993	,	,	NA	3e-04	NA	NA	NA	8e-04	0.7387	EXOME	NA	NA	0.0055	SNP								NA				0								A	ALA/VAL	22,4384	26.2+/-53.5	0,22,2181	83	89	87		959	2.1	0.3	2	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	yes	missense	HDAC4	NM_006037.3	64	0,23,6480	GG,GA,AA	NA	0.0116,0.4993,0.1768	benign	320/1085	240061399	23,12983	2203	4300	6503	SO:0001583	missense			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024	9759	9759			14063	protein-coding gene	gene with protein product		605314	brachydactyly-mental retardation syndrome	BDMR	NA	10206986, 10220385, 20691407	Standard	NM_006037	NM_006037	NA	Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.959T>C	2.37:g.240061399A>G	ENSP00000264606:p.Val320Ala	NA	Q9UND6	37	CCDS2529.1	2|2	9.157509157509158E-4|9.157509157509158E-4	2|2	0.0040650406504065045|0.0040650406504065045	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	A|A	11.20|11.20	1.568343|1.568343	0.28003|0.28003	0.004993|0.004993	1.16E-4|1.16E-4	ENSG00000068024|ENSG00000068024	ENST00000445704|ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621	.|T;T	.|0.58797	.|0.31;1.47	4.58|4.58	2.12|2.12	0.27331|0.27331	.|.	.|0.429191	.|0.25601	.|N	.|0.029556	T|T	0.39600|0.39600	0.1084|0.1084	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.17852	.|0.0;0.001;0.004;0.004;0.024;0.004	.|B;B;B;B;B;B	.|0.18263	.|0.002;0.004;0.006;0.003;0.021;0.005	T|T	0.11251|0.11251	-1.0595|-1.0595	5|9	.|.	.|.	.|.	.|.	8.1008|8.1008	0.30857|0.30857	0.8068:0.0:0.1932:0.0|0.8068:0.0:0.1932:0.0	.|.	.|315;203;289;289;288;320	.|B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.|.;.;.;.;.;HDAC4_HUMAN	P|A	64|320;203;289;203	.|ENSP00000264606:V320A;ENSP00000443057:V289A	.|.	S|V	-|-	1|2	0|0	HDAC4|HDAC4	239726336|239726336	0.991000|0.991000	0.36638|0.36638	0.252000|0.252000	0.24328|0.24328	0.347000|0.347000	0.29111|0.29111	4.544000|4.544000	0.60691|0.60691	0.719000|0.719000	0.32188|0.32188	0.477000|0.477000	0.44152|0.44152	TCC|GTC	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257174.2		-	ENST00000345617.3	Missense_Mutation	SNP	2 : 240061399 - 240061399 G PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	910	13
HERC2	8924	broad.mit.edu	37	15	28459392	28459392	+	Missense_Mutation	SNP	G	G	A	rs138059246	byFrequency	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:28459392G>A	ENST00000261609.7	-	41	6493	c.6385C>T	c.(6385-6387)Cgc>Tgc	p.R2129C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2129					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCTGCGGGCGCACCCTGCGC	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	26	25			NA	NA	15		NA											NA				28459392		2195	4292	6487	SO:0001583	missense			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731	8924	8924			4868	protein-coding gene	gene with protein product		605837	hect domain and RLD 2		NA	9949213	Standard	NM_004667	NM_004667	NA	Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6385C>T	15.37:g.28459392G>A	ENSP00000261609:p.Arg2129Cys	NA	Q86SV7|Q86SV8|Q86SV9|Q86YY3|Q86YY4|Q86YY5|Q86YY6|Q86YY7|Q86YY8|Q86YY9|Q86YZ0|Q86YZ1	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944883	0.53079	.	.	ENSG00000128731	ENST00000261609	T	0.41400	1.0	4.75	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.53594	0.1806	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.55866	-0.8073	10	0.72032	D	0.01	.	12.4051	0.55434	0.0:0.0:0.7652:0.2348	.	2129	O95714	HERC2_HUMAN	C	2129	ENSP00000261609:R2129C	ENSP00000261609:R2129C	R	-	1	0	HERC2	26132987	1.000000	0.71417	0.956000	0.39512	0.126000	0.20510	3.130000	0.50508	2.461000	0.83175	0.484000	0.47621	CGC	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251358.2		-	ENST00000261609.7	Missense_Mutation	SNP	15 : 28459392 - 28459392 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	281	7
HMGXB4	10042	broad.mit.edu	37	22	35689619	35689619	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr22:35689619T>C	ENST00000216106.5	+	11	1909	c.1781T>C	c.(1780-1782)aTt>aCt	p.I594T	HMGXB4_ENST00000444518.2_Missense_Mutation_p.I485T	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	594					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTAGACAACATTGCTTACATC	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	171	179			NA	NA	22		NA											NA				35689619		2203	4300	6503	SO:0001583	missense			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281	10042	10042		High mobility group / Non-canonical	5003	protein-coding gene	gene with protein product		604702	high-mobility group protein 2-like 1	HMG2L1	NA	10329004, 10591208, 20511232	Standard	NM_005487	NM_001003681	NA	Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1781T>C	22.37:g.35689619T>C	ENSP00000216106:p.Ile594Thr	NA	O75672|O75673|Q9UMT5	37	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.756822	0.89843	.	.	ENSG00000100281	ENST00000444518;ENST00000216106	T;T	0.34072	1.38;1.42	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.62651	-0.6809	10	0.87932	D	0	-3.1144	16.4622	0.84064	0.0:0.0:0.0:1.0	.	594	Q9UGU5	HMGX4_HUMAN	T	485;594	ENSP00000398302:I485T;ENSP00000216106:I594T	ENSP00000216106:I594T	I	+	2	0	HMGXB4	34019619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.008000	0.88588	2.289000	0.77006	0.533000	0.62120	ATT	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318104.2		+	ENST00000216106.5	Missense_Mutation	SNP	22 : 35689619 - 35689619 C PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	423	7
IGDCC4	57722	broad.mit.edu	37	15	65703590	65703590	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:65703590G>A	ENST00000352385.2	-	2	398	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	63	Ig-like C2-type 1.|Poly-Ala.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGGTCCAGCGGCAGCAGCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													45	40	41			NA	NA	15		NA											NA				65703590		2201	4299	6500	SO:0001819	synonymous_variant				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742	57722	57722		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	13770	protein-coding gene	gene with protein product	likely ortholog of mouse neighbor of Punc E11				NA		Standard	NM_020962	NM_020962	NA	Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.189C>T	15.37:g.65703590G>A		NA	Q9HCE4	37	CCDS10206.1																																																																																			IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256825.2		-	ENST00000352385.2	Silent	SNP	15 : 65703590 - 65703590 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	224	14
KIF3C	3797	broad.mit.edu	37	2	26204102	26204102	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:26204102G>A	ENST00000264712.3	-	1	1264	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	KIF3C_ENST00000405914.1_Missense_Mutation_p.R229C	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	229	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGAGCCACGTTCGCTGCAC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	58	59			NA	NA	2		NA											NA				26204102		2203	4300	6503	SO:0001583	missense				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731	3797	3797		Kinesins	6321	protein-coding gene	gene with protein product		602845			NA	9480755	Standard		NM_002254	NA	Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.685C>T	2.37:g.26204102G>A	ENSP00000264712:p.Arg229Cys	NA	O43544|Q4ZG18|Q53SX5|Q562F7	37	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	9.272	1.045812	0.19748	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.75821	-0.97;-0.97	5.67	2.82	0.32997	Kinesin, motor domain (4);	0.419809	0.26915	N	0.021842	T	0.62865	0.2463	M	0.69463	2.115	0.25228	N	0.98986	D;P	0.54964	0.969;0.919	B;B	0.35899	0.213;0.213	T	0.61792	-0.6990	10	0.56958	D	0.05	.	5.0533	0.14520	0.1584:0.0:0.5619:0.2797	.	229;229	B7ZM25;O14782	.;KIF3C_HUMAN	C	229;35;229	ENSP00000264712:R229C;ENSP00000385030:R229C	ENSP00000264712:R229C	R	-	1	0	KIF3C	26057606	0.032000	0.19561	0.708000	0.30435	0.901000	0.52897	0.305000	0.19254	0.761000	0.33130	0.655000	0.94253	CGT	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000211611.1		-	ENST00000264712.3	Missense_Mutation	SNP	2 : 26204102 - 26204102 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	418	23
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	129	34
LRP2	4036	broad.mit.edu	37	2	170070366	170070366	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:170070366G>A	ENST00000263816.3	-	36	6126	c.5841C>T	c.(5839-5841)aaC>aaT	p.N1947N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1947					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCCATCCACGTTTCCTCTTT	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													58	57	57			NA	NA	2		NA											NA				170070366		2203	4300	6503	SO:0001819	synonymous_variant				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479	4036	4036		Low density lipoprotein receptors	6694	protein-coding gene	gene with protein product	megalin	600073			NA	7959795	Standard	NM_004525	NM_004525	NA	Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5841C>T	2.37:g.170070366G>A		NA	O00711|Q16215	37	CCDS2232.1																																																																																			LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255231.2		-	ENST00000263816.3	Silent	SNP	2 : 170070366 - 170070366 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	309	63
MAGEB1	4112	broad.mit.edu	37	X	30269599	30269599	+	Missense_Mutation	SNP	C	C	T	rs145293151		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:30269599C>T	ENST00000378981.3	+	4	1310	c.989C>T	c.(988-990)aCg>aTg	p.T330M	MAGEB1_ENST00000397548.2_Missense_Mutation_p.T330M|MAGEB1_ENST00000397550.1_Missense_Mutation_p.T330M	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	330										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ACTACTGCCACGACTTTTAGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR,MET/THR,MET/THR	0,3833		0,0,1631,571	79	72	75		989,989,989	-6.2	0	X	dbSNP_134	75	1,6727		0,1,2427,1872	yes	missense,missense,missense	MAGEB1	NM_002363.4,NM_177404.2,NM_177415.2	81,81,81	0,1,4058,2443	TT,TC,CC,C	NA	0.0149,0.0,0.0095	possibly-damaging,possibly-damaging,possibly-damaging	330/348,330/348,330/348	30269599	1,10560	2202	4300	6502	SO:0001583	missense				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107	4112	4112			6808	protein-coding gene	gene with protein product	DSS/AHC critical interval MAGE superfamily 10, cancer/testis antigen family 3, member 1	300097			NA	7761436, 9441743	Standard	NM_002363	NM_002363	NA	Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.989C>T	X.37:g.30269599C>T	ENSP00000368264:p.Thr330Met	NA	B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	37	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	C	1.310	-0.602440	0.03744	0.0	1.49E-4	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01629	4.72;4.72;4.72	3.09	-6.18	0.02085	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	P	0.34892	0.474	B	0.19666	0.026	T	0.27806	-1.0063	9	0.31617	T	0.26	.	2.6292	0.04939	0.1313:0.4097:0.2575:0.2015	.	330	P43366	MAGB1_HUMAN	M	330	ENSP00000368264:T330M;ENSP00000380683:T330M;ENSP00000380681:T330M	ENSP00000368264:T330M	T	+	2	0	MAGEB1	30179520	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.555000	0.00925	-4.807000	0.00031	-1.407000	0.01130	ACG	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056160.1		+	ENST00000378981.3	Missense_Mutation	SNP	X : 30269599 - 30269599 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	429	87
MTOR	2475	broad.mit.edu	37	1	11269497	11269497	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:11269497C>T	ENST00000361445.4	-	25	3749	c.3673G>A	c.(3673-3675)Gaa>Aaa	p.E1225K		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1225					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCCTCCTCTTCATCAGCAAGT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	222	225			NA	NA	1		NA											NA				11269497		2203	4300	6503	SO:0001583	missense			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793	2475	2475			3942	protein-coding gene	gene with protein product	FK506 binding protein 12-rapamycin associated protein 2, rapamycin target protein, FKBP12-rapamycin complex-associated protein 1, FKBP-rapamycin associated protein, rapamycin associated protein FRAP2, dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1), rapamycin and FKBP12 target 1, mammalian target of rapamycin	601231	FK506 binding protein 12-rapamycin associated protein 1	FRAP, FRAP2, FRAP1	NA	8008069, 8660990	Standard	NM_004958	NM_004958	NA	Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3673G>A	1.37:g.11269497C>T	ENSP00000354558:p.Glu1225Lys	NA	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733505	0.48939	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.67523	-0.27	5.92	5.92	0.95590	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	L	0.44542	1.39	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.72308	-0.4332	10	0.38643	T	0.18	-15.5656	20.3207	0.98668	0.0:1.0:0.0:0.0	.	1225	P42345	MTOR_HUMAN	K	1225	ENSP00000354558:E1225K	ENSP00000354558:E1225K	E	-	1	0	MTOR	11192084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.813000	0.96785	0.561000	0.74099	GAA	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005558.1		-	ENST00000361445.4	Missense_Mutation	SNP	1 : 11269497 - 11269497 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	1010	21
MUC5B	727897	broad.mit.edu	37	11	1250411	1250411	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr11:1250411C>G	ENST00000529681.1	+	9	1046	c.988C>G	c.(988-990)Ccc>Gcc	p.P330A	MUC5B_ENST00000531082.1_3'UTR|MUC5B_ENST00000447027.1_Missense_Mutation_p.P330A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	330	TIL 1.			PL -> T (in Ref. 2; AAC67545).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGACCTGCCCCCTCAACAT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	32	30			NA	NA	11		NA											NA				1250411		2074	4190	6264	SO:0001583	missense			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983	727897	727897		Mucins	7516	protein-coding gene	gene with protein product		600770	mucin 5, subtype B, tracheobronchial	MUC5	NA	9804771	Standard	XM_001126093	NM_002458	NA	Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.988C>G	11.37:g.1250411C>G	ENSP00000436812:p.Pro330Ala	NA	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	6.296	0.422771	0.11928	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	D;D	0.91521	-2.86;-2.86	3.36	1.37	0.22104	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	D	0.94863	0.8340	M	0.90145	3.09	0.41081	D	0.985529	P;D;D	0.76494	0.892;0.999;0.999	P;D;D	0.69654	0.776;0.965;0.965	D	0.93936	0.7219	9	0.87932	D	0	.	9.0327	0.36269	0.0:0.8092:0.0:0.1908	.	330;986;330	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	A	330;330;330;363	ENSP00000436812:P330A;ENSP00000415793:P330A	ENSP00000343037:P330A	P	+	1	0	MUC5B	1206987	1.000000	0.71417	0.469000	0.27204	0.138000	0.21146	2.905000	0.48727	0.620000	0.30215	0.205000	0.17691	CCC	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390041.2		+	ENST00000529681.1	Missense_Mutation	SNP	11 : 1250411 - 1250411 G PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	70	14
NEURL4	84461	broad.mit.edu	37	17	7225225	7225225	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:7225225C>T	ENST00000399464.2	-	17	2845	c.2830G>A	c.(2830-2832)Gtc>Atc	p.V944I	NEURL4_ENST00000570460.1_Missense_Mutation_p.V920I|NEURL4_ENST00000315614.7_Missense_Mutation_p.V942I	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4	NA										central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTACTGAAGACAAGGCCATGA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	101	101			NA	NA	17		NA											NA				7225225		2134	4228	6362	SO:0001583	missense				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041	84461	84461			34410	protein-coding gene	gene with protein product		615865	neuralized homolog 4 (Drosophila)		NA	22261722, 22441691	Standard	NM_032442	NM_001005408	NA	Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2830G>A	17.37:g.7225225C>T	ENSP00000382390:p.Val944Ile	NA		37	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070973	0.93950	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.41065	1.02;1.01	5.87	5.87	0.94306	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	M	0.76002	2.32	0.50039	D	0.999849	D;D	0.63046	0.99;0.992	D;D	0.77004	0.98;0.989	T	0.64820	-0.6317	10	0.49607	T	0.09	-27.2431	17.7017	0.88296	0.0:1.0:0.0:0.0	.	942;944	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	I	942;944	ENSP00000319826:V942I;ENSP00000382390:V944I	ENSP00000319826:V942I	V	-	1	0	NEURL4	7165949	0.999000	0.42202	0.975000	0.42487	0.983000	0.72400	4.024000	0.57218	2.781000	0.95711	0.655000	0.94253	GTC	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255434.2		-	ENST00000399464.2	Missense_Mutation	SNP	17 : 7225225 - 7225225 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	343	22
NUPL2	11097	broad.mit.edu	37	7	23221735	23221735	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:23221735C>G	ENST00000410002.3	+	1	79	c.31C>G	c.(31-33)Cgg>Ggg	p.R11G	NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000258742.5_Missense_Mutation_p.R11G			O15504	NUPL2_HUMAN	nucleoporin like 2	11					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTTCAAGGCCGGTGCCGCTT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	68	73			NA	NA	7		NA											NA				23221735		2203	4300	6503	SO:0001583	missense			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243	11097	11097			17010	protein-coding gene	gene with protein product	nucleoporin-like protein 1				NA	10358091, 9450185	Standard	NM_007342	NM_007342	NA	Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000410002.3:c.31C>G	7.37:g.23221735C>G	ENSP00000387330:p.Arg11Gly	NA	A4D143|B4DP42|Q49AE7|Q9BS49	37		.	.	.	.	.	.	.	.	.	.	C	16.62	3.173319	0.57584	.	.	ENSG00000136243	ENST00000258742;ENST00000410002;ENST00000413919	T;T;T	0.47528	0.84;0.84;0.84	5.14	3.29	0.37713	Zinc finger, CCCH-type (1);	0.129374	0.51477	D	0.000094	T	0.59770	0.2218	M	0.67700	2.07	0.45676	D	0.99859	D	0.76494	0.999	D	0.68943	0.961	T	0.57871	-0.7736	10	0.48119	T	0.1	-13.7234	6.8112	0.23805	0.2509:0.6099:0.0:0.1392	.	11	O15504	NUPL2_HUMAN	G	11	ENSP00000258742:R11G;ENSP00000387330:R11G;ENSP00000401475:R11G	ENSP00000258742:R11G	R	+	1	2	NUPL2	23188260	1.000000	0.71417	0.871000	0.34182	0.994000	0.84299	1.853000	0.39358	0.825000	0.34637	0.655000	0.94253	CGG	NUPL2-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000327180.1		+	ENST00000410002.3	Missense_Mutation	SNP	7 : 23221735 - 23221735 G PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	249	63
OBSL1	23363	broad.mit.edu	37	2	220428119	220428119	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:220428119C>T	ENST00000404537.1	-	7	2694	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I	OBSL1_ENST00000289656.3_Missense_Mutation_p.V467I|OBSL1_ENST00000265318.4_Missense_Mutation_p.V880I|OBSL1_ENST00000373876.1_Missense_Mutation_p.V880I|OBSL1_ENST00000603926.1_Missense_Mutation_p.V880I|OBSL1_ENST00000373873.4_Missense_Mutation_p.V880I	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	880	Ig-like 6.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				NA		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCTCCAGCGACGCACTGAAAC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													34	40	38			NA	NA	2		NA											NA				220428119		2077	4196	6273	SO:0001583	missense			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006	23363	23363		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	29092	protein-coding gene	gene with protein product		610991			NA	9734811	Standard		NM_015311	NA	Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2638G>A	2.37:g.220428119C>T	ENSP00000385636:p.Val880Ile	NA	A4KVA5|Q96IW3	37	CCDS46520.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186517	0.38609	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	4.69	3.72	0.42706	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76593	0.4009	L	0.58810	1.83	0.09310	N	1	D;D;D;D	0.76494	0.998;0.999;0.989;0.991	D;D;P;P	0.68943	0.934;0.961;0.475;0.688	T	0.64871	-0.6305	9	0.34782	T	0.22	.	13.3942	0.60840	0.0:0.9118:0.0:0.0881	.	881;880;467;880	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	I	880;880;880;880;467	ENSP00000265318:V880I;ENSP00000385636:V880I;ENSP00000362983:V880I;ENSP00000362980:V880I;ENSP00000289656:V467I	ENSP00000265318:V880I	V	-	1	0	OBSL1	220136363	0.002000	0.14202	0.472000	0.27241	0.415000	0.31203	1.292000	0.33342	2.433000	0.82419	0.561000	0.74099	GTC	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322012.1		-	ENST00000404537.1	Missense_Mutation	SNP	2 : 220428119 - 220428119 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	194	13
OSGEP	55644	broad.mit.edu	37	14	20916117	20916117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:20916117G>A	ENST00000555656.1	-	4	2159	c.142C>T	c.(142-144)Cga>Tga	p.R48*	OSGEP_ENST00000206542.4_Nonsense_Mutation_p.R247*|OSGEP_ENST00000554249.1_Nonsense_Mutation_p.R65*			Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	247					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GCCATGGCTCGCTCTGTGATC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	108	107			NA	NA	14		NA											NA				20916117		2203	4300	6503	SO:0001587	stop_gained			AB050442	CCDS9549.1	14q12	2010-03-19			ENSG00000092094	ENSG00000092094	55644	55644	3.4.24.57		18028	protein-coding gene	gene with protein product		610107			NA	12039036	Standard	NM_017807	NM_017807	NA	Approved	PRSMG1, GCPL1, OSGEP1, KAE1	uc001vxf.3	Q9NPF4	OTTHUMG00000029543	ENST00000555656.1:c.142C>T	14.37:g.20916117G>A	ENSP00000451784:p.Arg48*	NA	Q6IAC3	37		.	.	.	.	.	.	.	.	.	.	G	38	7.251523	0.98164	.	.	ENSG00000092094	ENST00000555656;ENST00000206542;ENST00000554249;ENST00000555223;ENST00000555785	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4092	16.4221	0.83766	0.0:0.0:1.0:0.0	.	.	.	.	X	48;247;65;65;48	.	ENSP00000206542:R247X	R	-	1	2	OSGEP	19985957	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.358000	0.44134	2.141000	0.66446	0.455000	0.32223	CGA	OSGEP-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000411041.1		-	ENST00000555656.1	Nonsense_Mutation	SNP	14 : 20916117 - 20916117 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	574	33
OTOP3	347741	broad.mit.edu	37	17	72943167	72943167	+	Missense_Mutation	SNP	C	C	T	rs145029319		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:72943167C>T	ENST00000328801.4	+	6	1217	c.1217C>T	c.(1216-1218)aCg>aTg	p.T406M		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	406						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GAGCTGGACACGGTCAAGAAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR	0,4406		0,0,2203	96	91	93		1217	3.6	1	17	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense	OTOP3	NM_178233.1	81	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	406/597	72943167	1,13005	2203	4300	6503	SO:0001583	missense			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938	347741	347741			19658	protein-coding gene	gene with protein product		607828			NA	12651873	Standard	NM_178233	NM_178233	NA	Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1217C>T	17.37:g.72943167C>T	ENSP00000328090:p.Thr406Met	NA		37	CCDS11709.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136971	0.37728	0.0	1.16E-4	ENSG00000182938	ENST00000328801	T	0.23147	1.92	4.54	3.56	0.40772	.	0.323633	0.28712	N	0.014395	T	0.43919	0.1269	M	0.68317	2.08	0.32154	N	0.58386	D	0.89917	1.0	D	0.79108	0.992	T	0.53774	-0.8391	10	0.59425	D	0.04	-16.305	7.4753	0.27371	0.1649:0.7493:0.0:0.0858	.	406	Q7RTS5	OTOP3_HUMAN	M	406	ENSP00000328090:T406M	ENSP00000328090:T406M	T	+	2	0	OTOP3	70454762	0.281000	0.24258	0.978000	0.43139	0.696000	0.40369	0.869000	0.27996	0.891000	0.36235	0.462000	0.41574	ACG	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000445308.1		+	ENST00000328801.4	Missense_Mutation	SNP	17 : 72943167 - 72943167 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	353	35
OTX2	5015	broad.mit.edu	37	14	57268475	57268475	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:57268475G>A	ENST00000339475.5	-	5	1148	c.872C>T	c.(871-873)tCg>tTg	p.S291L	OTX2_ENST00000408990.3_Missense_Mutation_p.S283L|OTX2_ENST00000555006.1_Missense_Mutation_p.S283L	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	283					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GAATTTCCACGAGGATGTCTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	63			NA	NA	14		NA											NA				57268475		2203	4300	6503	SO:0001583	missense			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588	5015	5015		Homeoboxes / PRD class	8522	protein-coding gene	gene with protein product		600037	orthodenticle homolog 2 (Drosophila)		NA	7959790	Standard	NM_021728.	NM_021728	NA	Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000339475.5:c.872C>T	14.37:g.57268475G>A	ENSP00000343819:p.Ser291Leu	NA	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	37	CCDS9728.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296371	0.40594	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006	D;D;D	0.93712	-3.27;-3.26;-3.26	5.65	3.84	0.44239	.	0.605732	0.13764	N	0.364391	D	0.92506	0.7620	M	0.84219	2.685	0.80722	D	1	P;P	0.51537	0.946;0.838	B;B	0.39258	0.295;0.283	D	0.91171	0.4968	10	0.72032	D	0.01	.	11.382	0.49763	0.1438:0.0:0.8562:0.0	.	291;283	F1T0D1;P32243	.;OTX2_HUMAN	L	291;283;283	ENSP00000343819:S291L;ENSP00000386185:S283L;ENSP00000452336:S283L	ENSP00000343819:S291L	S	-	2	0	OTX2	56338228	1.000000	0.71417	0.762000	0.31397	0.989000	0.77384	9.501000	0.97979	0.949000	0.37715	0.655000	0.94253	TCG	OTX2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276926.3		-	ENST00000339475.5	Missense_Mutation	SNP	14 : 57268475 - 57268475 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	386	93
PALLD	23022	broad.mit.edu	37	4	169837051	169837051	+	Missense_Mutation	SNP	G	G	A	rs114171764	by1000genomes	TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr4:169837051G>A	ENST00000261509.6	+	16	2883	c.2672G>A	c.(2671-2673)cGt>cAt	p.R891H	PALLD_ENST00000335742.7_Missense_Mutation_p.R733H|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.R509H|PALLD_ENST00000505667.1_Missense_Mutation_p.R908H|PALLD_ENST00000507735.1_Missense_Mutation_p.R404H	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1115					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCAAGGCCTCGTTCTAGATCA	0.393		NA							Pancreatic Cancer, Familial Clustering of				G	1	5e-04	NA	NA	2184	0.0017	1	,	,	NA	3e-04	NA	NA	NA	5e-04	1	LOWCOV,EXOME	NA	NA	5e-04	SNP	Esophageal Squamous(109;1482 1532 18347 40239 51172)							NA				0													90	90	90			NA	NA	4		NA											NA				169837051		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116	23022	23022		Immunoglobulin superfamily / I-set domain containing	17068	protein-coding gene	gene with protein product		608092			NA	10231032, 10931874	Standard	NM_016081	NM_001166108	NA	Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000261509.6:c.2672G>A	4.37:g.169837051G>A	ENSP00000261509:p.Arg891His	NA	B5MD56|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	37	CCDS34098.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.7	4.660793	0.88154	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.66638	-0.19;-0.22;0.12;-0.12;0.16	5.68	5.68	0.88126	.	0.000000	0.31859	U	0.006948	T	0.81138	0.4760	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71656	0.974;0.959;0.959;0.974	T	0.80525	-0.1344	10	0.51188	T	0.08	.	19.7942	0.96472	0.0:0.0:1.0:0.0	.	908;1115;509;891	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	H	891;733;908;509;404	ENSP00000261509:R891H;ENSP00000336735:R733H;ENSP00000425556:R908H;ENSP00000426947:R509H;ENSP00000424016:R404H	ENSP00000261509:R891H	R	+	2	0	PALLD	170073626	1.000000	0.71417	0.995000	0.50966	0.933000	0.57130	9.869000	0.99810	2.684000	0.91462	0.313000	0.20887	CGT	PALLD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000363761.3		+	ENST00000261509.6	Missense_Mutation	SNP	4 : 169837051 - 169837051 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	394	118
PCLO	27445	broad.mit.edu	37	7	82544266	82544266	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:82544266G>T	ENST00000333891.9	-	7	13373	c.13036C>A	c.(13036-13038)Caa>Aaa	p.Q4346K	PCLO_ENST00000437081.1_Missense_Mutation_p.Q1066K|PCLO_ENST00000423517.2_Missense_Mutation_p.Q4346K	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	NA					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCTCTACTTTGACTAATTGGC	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													97	95	96			NA	NA	7		NA											NA				82544266		1882	4118	6000	SO:0001583	missense			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472	27445	27445			13406	protein-coding gene	gene with protein product	aczonin	604918	piccolo (presynaptic cytomatrix protein)		NA	8900486, 9628581	Standard	NM_014510	NM_014510	NA	Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13036C>A	7.37:g.82544266G>T	ENSP00000334319:p.Gln4346Lys	NA	A4D1A7|A6NNX9|O43373|O60305|Q08E72|Q9BVC8|Q9UIV2|Q9Y6U9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459440	0.63401	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18338	2.22;2.22	5.61	5.61	0.85477	.	.	.	.	.	T	0.43700	0.1259	M	0.68593	2.085	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.81914	0.98;0.995;0.995	T	0.27806	-1.0063	9	0.87932	D	0	.	19.6481	0.95790	0.0:0.0:1.0:0.0	.	4277;4346;4346	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	K	4346;4346;1066	ENSP00000334319:Q4346K;ENSP00000388393:Q4346K	ENSP00000334319:Q4346K	Q	-	1	0	PCLO	82382202	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.869000	0.99810	2.651000	0.90000	0.557000	0.71058	CAA	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000337368.5		-	ENST00000333891.9	Missense_Mutation	SNP	7 : 82544266 - 82544266 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	497	44
POU5F2	134187	broad.mit.edu	37	5	93077092	93077092	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:93077092C>T	ENST00000510627.4	-	1	251	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	60						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				NA		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		ATCCTCCACACGTCAGGGCCT	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													17	20	19			NA	NA	5		NA											NA				93077092		1926	4128	6054	SO:0001583	missense				CCDS59489.1	5q15	2011-06-20				ENSG00000248483	134187	134187		Homeoboxes / POU class	26367	protein-coding gene	gene with protein product					NA	7908264	Standard	NM_153216	NM_153216	NA	Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.178G>A	5.37:g.93077092C>T	ENSP00000464890:p.Val60Met	NA	Q15169|Q6MZL7|Q8N748	37	CCDS59489.1																																																																																			POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000369873.5		-	ENST00000510627.4	Missense_Mutation	SNP	5 : 93077092 - 93077092 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	158	10
PPP1R26	9858	broad.mit.edu	37	9	138376844	138376844	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr9:138376844C>T	ENST00000356818.2	+	4	1037	c.488C>T	c.(487-489)tCc>tTc	p.S163F	PPP1R26_ENST00000605660.1_Missense_Mutation_p.S163F|PPP1R26_ENST00000605286.1_Missense_Mutation_p.S163F|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.S163F|PPP1R26_ENST00000604351.1_Missense_Mutation_p.S163F	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	163						nucleolus	protein binding				NA						GCCCAGCCTTCCAGGGCCGCA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													16	21	19			NA	NA	9		NA											NA				138376844		2195	4277	6472	SO:0001583	missense			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422	9858	9858		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	29089	protein-coding gene	gene with protein product	DRIM/UTP20 interacting protein, 1A6/DRIM (down-regulated in metastasis) interacting protein	614056	KIAA0649	KIAA0649	NA	9734811, 16053918	Standard	NM_014811	NM_014811	NA	Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.488C>T	9.37:g.138376844C>T	ENSP00000349274:p.Ser163Phe	NA	Q86WU0|Q8WVV0|Q9Y4D3	37	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850195	0.51270	.	.	ENSG00000196422	ENST00000356818	T	0.42131	0.98	4.96	-1.82	0.07857	.	2.106900	0.03559	U	0.226796	T	0.23532	0.0569	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.16722	0.016	T	0.21314	-1.0249	10	0.38643	T	0.18	.	6.7987	0.23738	0.0:0.5175:0.1538:0.3286	.	163	Q5T8A7	PPR26_HUMAN	F	163	ENSP00000349274:S163F	ENSP00000349274:S163F	S	+	2	0	KIAA0649	137516665	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.487000	0.22356	-0.225000	0.09913	-0.291000	0.09656	TCC	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054987.1		+	ENST00000356818.2	Missense_Mutation	SNP	9 : 138376844 - 138376844 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	340	77
RPA2	6118	broad.mit.edu	37	1	28240605	28240605	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:28240605G>A	ENST00000373912.3	-	2	385	c.86C>T	c.(85-87)tCg>tTg	p.S29L	RPA2_ENST00000373909.3_Missense_Mutation_p.S37L|RPA2_ENST00000313433.7_Missense_Mutation_p.S117L	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	29	Gly/Ser-rich.				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGCGGGCGATCCAAAGCC	0.502		NA						Direct reversal of damage;Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	66	63			NA	NA	1		NA											NA				28240605		2203	4300	6503	SO:0001583	missense			BC021257	CCDS314.1, CCDS72740.1	1p35	2008-02-05	2002-08-29		ENSG00000117748	ENSG00000117748	6118	6118			10290	protein-coding gene	gene with protein product		179836	replication protein A2 (32kD)		NA	8454588	Standard	NM_002946	XM_005245965	NA	Approved		uc001bpe.1	P15927	OTTHUMG00000003915	ENST00000373912.3:c.86C>T	1.37:g.28240605G>A	ENSP00000363021:p.Ser29Leu	NA	Q52II0|Q5TEI9|Q5TEJ5	37	CCDS314.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057680	0.76074	.	.	ENSG00000117748	ENST00000373912;ENST00000373909;ENST00000313433;ENST00000444045	T;T;T;T	0.26810	2.03;2.02;1.99;1.71	4.59	3.67	0.42095	.	0.184267	0.49305	D	0.000144	T	0.16896	0.0406	L	0.33485	1.01	0.40306	D	0.978667	P;B	0.39748	0.686;0.428	B;B	0.31290	0.127;0.087	T	0.04976	-1.0914	10	0.42905	T	0.14	-2.2818	12.0254	0.53367	0.0875:0.0:0.9124:0.0	.	29;37	P15927;P15927-2	RFA2_HUMAN;.	L	29;37;117;33	ENSP00000363021:S29L;ENSP00000363017:S37L;ENSP00000363015:S117L;ENSP00000387649:S33L	ENSP00000363015:S117L	S	-	2	0	RPA2	28113192	1.000000	0.71417	0.789000	0.31954	0.788000	0.44548	5.916000	0.69981	1.050000	0.40346	0.555000	0.69702	TCG	RPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000011179.1		-	ENST00000373912.3	Missense_Mutation	SNP	1 : 28240605 - 28240605 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	292	24
RSC1A1	6248	broad.mit.edu	37	1	15987039	15987039	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:15987039G>A	ENST00000345034.1	+	1	676	c.676G>A	c.(676-678)Gat>Aat	p.D226N	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	226					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGAATGTGGATCCTCCAAG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	ASN/ASP,	1,4405	2.1+/-5.4	0,1,2202	58	55	56		676,	2.6	0.1	1		56	0,8600		0,0,4300	no	missense,utr-3	RSC1A1,DDI2	NM_006511.1,NM_032341.4	23,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign,	226/618,	15987039	1,13005	2203	4300	6503	SO:0001583	missense			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695	6248	6248			10458	protein-coding gene	gene with protein product		601966			NA		Standard	NM_006511	NM_006511	NA	Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.676G>A	1.37:g.15987039G>A	ENSP00000341963:p.Asp226Asn	NA	B2RBP5	37	CCDS161.1	.	.	.	.	.	.	.	.	.	.	G	1.555	-0.538146	0.04082	2.27E-4	0.0	ENSG00000215695	ENST00000345034	T	0.25749	1.78	5.61	2.6	0.31112	.	0.951788	0.08658	N	0.912835	T	0.13030	0.0316	N	0.14661	0.345	0.09310	N	1	B	0.31548	0.328	B	0.32465	0.146	T	0.33752	-0.9856	10	0.11485	T	0.65	-24.3955	4.6168	0.12430	0.0835:0.1587:0.6044:0.1534	.	226	Q92681	RSCA1_HUMAN	N	226	ENSP00000341963:D226N	ENSP00000341963:D226N	D	+	1	0	RSC1A1	15859626	0.004000	0.15560	0.065000	0.19835	0.041000	0.13682	1.461000	0.35255	0.668000	0.31126	0.561000	0.74099	GAT	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000145500.1		+	ENST00000345034.1	Missense_Mutation	SNP	1 : 15987039 - 15987039 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	298	27
RYR3	6263	broad.mit.edu	37	15	34102719	34102719	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:34102719C>T	ENST00000389232.4	+	71	10136	c.10066C>T	c.(10066-10068)Cgg>Tgg	p.R3356W	RYR3_ENST00000415757.3_Missense_Mutation_p.R3351W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3356					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACAAAGCGGCGGGGAGACTT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	92	84			NA	NA	15		NA											NA				34102719		1923	4118	6041	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10066C>T	15.37:g.34102719C>T	ENSP00000373884:p.Arg3356Trp	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458025	0.63401	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.68025	-0.3	5.15	2.81	0.32909	.	0.000000	0.85682	D	0.000000	T	0.81153	0.4763	M	0.83603	2.65	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.982	T	0.82230	-0.0560	10	0.87932	D	0	.	12.2165	0.54410	0.5396:0.4604:0.0:0.0	.	3351;3356	Q15413-2;Q15413	.;RYR3_HUMAN	W	3356;3356;3351	ENSP00000373884:R3356W	ENSP00000354735:R3351W	R	+	1	2	RYR3	31890011	0.946000	0.32159	1.000000	0.80357	0.726000	0.41606	2.244000	0.43124	0.419000	0.25927	-0.397000	0.06425	CGG	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 34102719 - 34102719 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	257	59
SALL3	27164	broad.mit.edu	37	18	76754689	76754689	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr18:76754689T>G	ENST00000536229.3	+	1	3008	c.2299T>G	c.(2299-2301)Tcg>Gcg	p.S767A	SALL3_ENST00000575389.2_Missense_Mutation_p.S900A|SALL3_ENST00000537592.2_Missense_Mutation_p.S900A			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	900					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCCGAGTCCTCGTCCTCGCA	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	14	12			NA	NA	18		NA											NA				76754689		2036	4027	6063	SO:0001583	missense			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463	27164	27164		Zinc fingers, C2H2-type	10527	protein-coding gene	gene with protein product		605079	sal (Drosophila)-like 3, sal-like 3 (Drosophila)		NA	10610715	Standard	NM_171999	NM_171999	NA	Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000536229.3:c.2299T>G	18.37:g.76754689T>G	ENSP00000439975:p.Ser767Ala	NA	Q9UGH1	37		.	.	.	.	.	.	.	.	.	.	T	10.81	1.454670	0.26161	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08807	3.05	5.43	4.24	0.50183	.	0.000000	0.52532	D	0.000061	T	0.07279	0.0184	L	0.41824	1.3	0.53005	D	0.999964	B;P	0.41313	0.323;0.745	B;B	0.34931	0.19;0.192	T	0.36744	-0.9735	10	0.27785	T	0.31	-19.7823	12.4369	0.55604	0.0:0.0:0.1403:0.8597	.	632;900	F5GXY4;Q9BXA9	.;SALL3_HUMAN	A	900;900;632	ENSP00000441823:S900A	ENSP00000299466:S900A	S	+	1	0	SALL3	74855677	1.000000	0.71417	0.145000	0.22337	0.940000	0.58332	3.924000	0.56476	0.867000	0.35654	0.459000	0.35465	TCG	SALL3-006	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000446094.1		+	ENST00000536229.3	Missense_Mutation	SNP	18 : 76754689 - 76754689 G PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	179	5
SALL3	27164	broad.mit.edu	37	18	76754690	76754690	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr18:76754690C>A	ENST00000536229.3	+	1	3009	c.2300C>A	c.(2299-2301)tCg>tAg	p.S767*	SALL3_ENST00000575389.2_Nonsense_Mutation_p.S900*|SALL3_ENST00000537592.2_Nonsense_Mutation_p.S900*			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	900					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCGAGTCCTCGTCCTCGCAG	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													10	13	12			NA	NA	18		NA											NA				76754690		2032	4027	6059	SO:0001587	stop_gained			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463	27164	27164		Zinc fingers, C2H2-type	10527	protein-coding gene	gene with protein product		605079	sal (Drosophila)-like 3, sal-like 3 (Drosophila)		NA	10610715	Standard	NM_171999	NM_171999	NA	Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000536229.3:c.2300C>A	18.37:g.76754690C>A	ENSP00000439975:p.Ser767*	NA	Q9UGH1	37		.	.	.	.	.	.	.	.	.	.	C	47	13.299157	0.99733	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	.	.	.	5.43	4.54	0.55810	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-19.7823	15.3889	0.74726	0.1403:0.8597:0.0:0.0	.	.	.	.	X	900;900;632	.	ENSP00000299466:S900X	S	+	2	0	SALL3	74855678	1.000000	0.71417	0.146000	0.22360	0.920000	0.55202	4.704000	0.61831	1.251000	0.43983	0.561000	0.74099	TCG	SALL3-006	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000446094.1		+	ENST00000536229.3	Nonsense_Mutation	SNP	18 : 76754690 - 76754690 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	177	5
SASH3	54440	broad.mit.edu	37	X	128927070	128927070	+	Silent	SNP	C	C	A	rs142835579		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:128927070C>A	ENST00000356892.3	+	7	1021	c.907C>A	c.(907-909)Cgg>Agg	p.R303R		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	303	SAM.							p.R303R(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TCCACAGCACCGGGCCAAGCT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)						C		3,3832		0,3,1629,571	83	69	74		907	2.8	1	X	dbSNP_134	74	0,6728		0,0,2428,1872	no	coding-synonymous	SASH3	NM_018990.3		0,3,4057,2443	AA,AC,CC,C	NA	0.0,0.0782,0.0284		303/381	128927070	3,10560	2203	4300	6503	SO:0001819	synonymous_variant			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122	54440	54440		SAM and SH3 domain containing, Sterile alpha motif (SAM) domain containing	15975	protein-coding gene	gene with protein product		300441	chromosome X open reading frame 9	CXorf9	NA	11470164	Standard	NM_018990	NM_018990	NA	Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.907C>A	X.37:g.128927070C>A		NA	A6NCH1|A8K7K8|Q5JZ38	37	CCDS14614.1																																																																																			SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058208.1		+	ENST00000356892.3	Silent	SNP	X : 128927070 - 128927070 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	414	97
SCN5A	6331	broad.mit.edu	37	3	38593036	38593036	+	Silent	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:38593036C>T	ENST00000455624.2	-	27	4752	c.4728G>A	c.(4726-4728)tcG>tcA	p.S1576S	SCN5A_ENST00000333535.4_Silent_p.S1609S|SCN5A_ENST00000413689.1_Silent_p.S1609S|SCN5A_ENST00000443581.1_Silent_p.S1608S|SCN5A_ENST00000414099.2_Silent_p.S1591S|SCN5A_ENST00000451551.2_Silent_p.S1555S|SCN5A_ENST00000423572.2_Silent_p.S1608S|SCN5A_ENST00000425664.1_Silent_p.S1591S|SCN5A_ENST00000449557.2_Silent_p.S1555S|SCN5A_ENST00000450102.2_Silent_p.S1555S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1609					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGATGATGTCCGAGAGCACAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	63	62			NA	NA	3		NA											NA				38593036		2203	4300	6503	SO:0001819	synonymous_variant			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873	6331	6331		Sodium channels, Voltage-gated ion channels / Sodium channels	10593	protein-coding gene	gene with protein product	long QT syndrome 3	600163	sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)	CMD1E	NA	7842012, 15466643, 16382098	Standard	NM_198056	NM_198056	NA	Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000455624.2:c.4728G>A	3.37:g.38593036C>T		NA	A5H1P8|A6N922|A6N923|B2RTU0|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	37	CCDS54570.1																																																																																			SCN5A-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000343215.2		-	ENST00000455624.2	Silent	SNP	3 : 38593036 - 38593036 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	489	77
SDPR	8436	broad.mit.edu	37	2	192711597	192711597	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:192711597G>A	ENST00000304141.4	-	1	384	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	19						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTTTCCTGCCGCATGTCAGAC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	64	64			NA	NA	2		NA											NA				192711597		2203	4300	6503	SO:0001583	missense			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497	8436	8436			10690	protein-coding gene	gene with protein product	phosphatidylserine binding protein	606728	serum deprivation response (phosphatidylserine-binding protein), serum deprivation response (phosphatidylserine binding protein)		NA	10191091, 8241023	Standard	NM_004657	NM_004657	NA	Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.55C>T	2.37:g.192711597G>A	ENSP00000305675:p.Arg19Trp	NA		37	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	G	3.773	-0.047252	0.07407	.	.	ENSG00000168497	ENST00000304141	T	0.64618	-0.11	4.84	1.97	0.26223	.	1.325690	0.04910	N	0.453002	T	0.42426	0.1202	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.30621	-0.9972	10	0.44086	T	0.13	-0.3117	6.636	0.22883	0.0846:0.0:0.5985:0.317	.	19	O95810	SDPR_HUMAN	W	19	ENSP00000305675:R19W	ENSP00000305675:R19W	R	-	1	2	SDPR	192419842	0.008000	0.16893	0.127000	0.21898	0.208000	0.24298	1.612000	0.36889	0.304000	0.22809	0.555000	0.69702	CGG	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334791.2		-	ENST00000304141.4	Missense_Mutation	SNP	2 : 192711597 - 192711597 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	386	7
SLC30A7	148867	broad.mit.edu	37	1	101379319	101379319	+	Silent	SNP	T	T	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr1:101379319T>C	ENST00000370112.4	+	6	799	c.612T>C	c.(610-612)caT>caC	p.H204H	SLC30A7_ENST00000357650.4_Silent_p.H204H	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	204	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		GTGCTGCACATAGCCATGATC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(91;473 1491 3102 16827 21633)							NA				0													174	136	149			NA	NA	1		NA											NA				101379319		2203	4300	6503	SO:0001819	synonymous_variant			AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695	148867	148867		Solute carriers	19306	protein-coding gene	gene with protein product		611149			NA	12446736	Standard	NM_133496	NM_133496	NA	Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.612T>C	1.37:g.101379319T>C		NA	B2R949|D3DT61|Q8TCH2	37	CCDS776.1																																																																																			SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000032711.1		+	ENST00000370112.4	Silent	SNP	1 : 101379319 - 101379319 C PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	307	81
SLC36A3	285641	broad.mit.edu	37	5	150660632	150660632	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:150660632C>G	ENST00000335230.3	-	9	1498	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	SLC36A3_ENST00000377713.3_Missense_Mutation_p.E404Q	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	363						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCAGCTCTCTGACACTTGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													178	145	156			NA	NA	5		NA											NA				150660632		2203	4300	6503	SO:0001583	missense			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334	285641	285641		Solute carriers	19659	protein-coding gene	gene with protein product		608332			NA	12809675	Standard	NM_181774	NM_181774	NA	Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1087G>C	5.37:g.150660632C>G	ENSP00000334750:p.Glu363Gln	NA	Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	37	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070848	0.36566	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02197	4.4;4.4	4.06	4.06	0.47325	.	0.363547	0.29752	N	0.011295	T	0.04003	0.0112	L	0.57130	1.785	0.38876	D	0.956801	B;B;B	0.33777	0.041;0.425;0.109	B;B;B	0.36378	0.07;0.223;0.061	T	0.54016	-0.8356	10	0.15952	T	0.53	.	16.7998	0.85611	0.0:1.0:0.0:0.0	.	404;363;348	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	Q	363;404	ENSP00000334750:E363Q;ENSP00000366942:E404Q	ENSP00000334750:E363Q	E	-	1	0	SLC36A3	150640825	0.985000	0.35326	0.994000	0.49952	0.828000	0.46876	3.426000	0.52778	2.249000	0.74217	0.561000	0.74099	GAG	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252436.1		-	ENST00000335230.3	Missense_Mutation	SNP	5 : 150660632 - 150660632 G PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	357	33
SPANXC	64663	broad.mit.edu	37	X	140335774	140335774	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:140335774C>T	ENST00000358993.2	-	2	208	c.170G>A	c.(169-171)aGg>aAg	p.R57K		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	57						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TTTCACGTTCCTCCTGTAGCG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	150	170			NA	NA	X		NA											NA				140335774		2138	4137	6275	SO:0001583	missense			AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573	64663	64663			14331	protein-coding gene	gene with protein product	cancer/testis antigen family 11, member 3	300330			NA	10626816	Standard	NM_022661	NM_022661	NA	Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.170G>A	X.37:g.140335774C>T	ENSP00000351884:p.Arg57Lys	NA	Q32WL9|Q5JX88	37	CCDS14673.1	.	.	.	.	.	.	.	.	.	.	c	9.847	1.192504	0.21954	.	.	ENSG00000198573	ENST00000358993	T	0.05925	3.37	.	.	.	.	.	.	.	.	T	0.09818	0.0241	N	0.25485	0.75	0.09310	N	1	D	0.57257	0.979	D	0.71414	0.973	T	0.33523	-0.9865	7	0.12766	T	0.61	.	.	.	.	.	57	Q9NY87	SPNXC_HUMAN	K	57	ENSP00000351884:R57K	ENSP00000351884:R57K	R	-	2	0	SPANXC	140163440	0.024000	0.19004	0.009000	0.14445	0.009000	0.06853	0.064000	0.14437	0.328000	0.23435	0.330000	0.21533	AGG	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058590.1		-	ENST00000358993.2	Missense_Mutation	SNP	X : 140335774 - 140335774 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	1498	262
SRPX2	27286	broad.mit.edu	37	X	99924269	99924269	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chrX:99924269C>T	ENST00000373004.3	+	10	1548	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	374					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTGGATTTGCGGCATGTGAC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,3835		0,0,1632,571	94	71	79		1120	3.5	1	X		79	1,6727		0,1,2427,1872	no	missense	SRPX2	NM_014467.2	101	0,1,4059,2443	TT,TC,CC,C	NA	0.0149,0.0,0.0095	probably-damaging	374/466	99924269	1,10562	2203	4300	6503	SO:0001583	missense			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359	27286	27286			30668	protein-coding gene	gene with protein product		300642	sushi-repeat-containing protein, X-linked 2		NA	9864177	Standard	NM_014467	NM_014467	NA	Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1120C>T	X.37:g.99924269C>T	ENSP00000362095:p.Arg374Trp	NA	B3KQT3|Q8WW85	37	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905934	0.72868	0.0	1.49E-4	ENSG00000102359	ENST00000373004	T	0.73897	-0.79	5.39	3.55	0.40652	.	0.106917	0.64402	D	0.000003	D	0.86024	0.5834	M	0.83223	2.63	0.51767	D	0.999933	D	0.89917	1.0	D	0.85130	0.997	D	0.85856	0.1407	9	.	.	.	-2.9549	13.6078	0.62058	0.299:0.701:0.0:0.0	.	374	O60687	SRPX2_HUMAN	W	374	ENSP00000362095:R374W	.	R	+	1	2	SRPX2	99810925	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	0.863000	0.27913	0.429000	0.26202	0.596000	0.82720	CGG	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057486.1		+	ENST00000373004.3	Missense_Mutation	SNP	X : 99924269 - 99924269 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	309	7
STRN3	29966	broad.mit.edu	37	14	31404475	31404475	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr14:31404475G>A	ENST00000355683.5	-	7	1097	c.882C>T	c.(880-882)gaC>gaT	p.D294D	STRN3_ENST00000357479.5_Silent_p.D294D	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	294					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TATCAGGATCGTCAGTTAGGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	101	102			NA	NA	14		NA											NA				31404475		2203	4300	6503	SO:0001819	synonymous_variant				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792	29966	29966		WD repeat domain containing	15720	protein-coding gene	gene with protein product	cell cycle S/G2 nuclear autoantigen	614766			NA	7864889, 10681496	Standard	NM_014574	NM_014574	NA	Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000355683.5:c.882C>T	14.37:g.31404475G>A		NA	A2RTX7|A6NHZ7|Q9NRA5	37	CCDS9641.1	.	.	.	.	.	.	.	.	.	.	G	8.536	0.872216	0.17322	.	.	ENSG00000196792	ENST00000556577	.	.	.	5.68	0.861	0.19048	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.6586	8.8975	0.35474	0.71:0.0:0.29:0.0	.	.	.	.	X	55	.	.	R	-	1	2	STRN3	30474226	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.139000	0.31504	0.117000	0.18138	-0.367000	0.07326	CGA	STRN3-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000276609.2		-	ENST00000355683.5	Silent	SNP	14 : 31404475 - 31404475 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	332	109
SYT15	83849	broad.mit.edu	37	10	46965752	46965752	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr10:46965752C>T	ENST00000374323.4	-	4	1531	c.944G>A	c.(943-945)cGt>cAt	p.R315H	SYT15_ENST00000374321.4_Missense_Mutation_p.R262H|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374325.3_Missense_Mutation_p.R262H|SYT15_ENST00000503753.1_Missense_Mutation_p.R262H			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	NA	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCAGATGACACGCCGGCAGTC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(57;1152 1428 19651 37745)							NA				0													73	78	76			NA	NA	10		NA											NA				46965752		2137	4245	6382	SO:0001583	missense			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176	83849	83849		Synaptotagmins	17167	protein-coding gene	gene with protein product		608081			NA	11543631	Standard	NM_031912	NM_031912	NA	Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374323.4:c.944G>A	10.37:g.46965752C>T	ENSP00000363443:p.Arg315His	NA	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	37		.	.	.	.	.	.	.	.	.	.	.	6.785	0.513877	0.12944	.	.	ENSG00000204176	ENST00000416127;ENST00000374328;ENST00000374325;ENST00000503753;ENST00000374330;ENST00000374323;ENST00000374321	D;T;T;T;T	0.95272	-3.66;3.13;3.13;3.13;3.13	5.13	-5.29	0.02747	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	1.006260	0.07978	N	0.985110	D	0.83788	0.5330	N	0.12182	0.205	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.09377	0.002;0.004	T	0.71002	-0.4718	10	0.36615	T	0.2	.	3.5654	0.07897	0.1045:0.2315:0.1321:0.5319	.	262;262	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	H	262;52;262;262;101;315;262	ENSP00000363448:R52H;ENSP00000363445:R262H;ENSP00000427607:R262H;ENSP00000363443:R315H;ENSP00000363441:R262H	ENSP00000363441:R262H	R	-	2	0	SYT15	46385758	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-2.197000	0.01240	-0.739000	0.04809	-0.254000	0.11334	CGT	SYT15-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000123282.3		-	ENST00000374323.4	Missense_Mutation	SNP	10 : 46965752 - 46965752 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	313	31
TLN2	83660	broad.mit.edu	37	15	63089584	63089584	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr15:63089584G>A	ENST00000561311.1	+	47	6447	c.6217G>A	c.(6217-6219)Gac>Aac	p.D2073N	TLN2_ENST00000306829.6_Missense_Mutation_p.D2073N			Q9Y4G6	TLN2_HUMAN	talin 2	2073					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTGGGCTCCGACGACCCCGA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	27	26			NA	NA	15		NA											NA				63089584		2203	4297	6500	SO:0001583	missense			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914	83660	83660			15447	protein-coding gene	gene with protein product		607349			NA	9205841, 11527381	Standard		NM_015059	NA	Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6217G>A	15.37:g.63089584G>A	ENSP00000453508:p.Asp2073Asn	NA	A6NLB8	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	9.079	0.998848	0.19121	.	.	ENSG00000171914	ENST00000306829	T	0.13196	2.61	5.91	0.627	0.17675	.	0.291923	0.41938	N	0.000789	T	0.08582	0.0213	L	0.28115	0.83	0.42219	D	0.991842	B	0.22080	0.064	B	0.14578	0.011	T	0.29088	-1.0023	10	0.29301	T	0.29	-4.2882	10.025	0.42066	0.3442:0.0:0.6558:0.0	.	2073	Q9Y4G6	TLN2_HUMAN	N	2073	ENSP00000303476:D2073N	ENSP00000303476:D2073N	D	+	1	0	TLN2	60876637	1.000000	0.71417	0.002000	0.10522	0.333000	0.28666	4.144000	0.58057	-0.130000	0.11599	-0.982000	0.02568	GAC	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257878.2		+	ENST00000561311.1	Missense_Mutation	SNP	15 : 63089584 - 63089584 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	293	14
TP53	7157	broad.mit.edu	37	17	7578411	7578412	+	In_Frame_Ins	INS	-	-	ACG			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr17:7578411_7578412insACG	ENST00000420246.2	-	5	650_651	c.518_519insCGT	c.(517-519)gtg>gtCGTg	p.173_173V>VV	TP53_ENST00000445888.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000413465.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000359597.4_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_In_Frame_Ins_p.173_173V>VV|TP53_ENST00000269305.4_In_Frame_Ins_p.173_173V>VV	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173A(12)|p.V173V(8)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.V41fs*7(1)|p.E171fs*1(1)|p.V173W(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.R174fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAGCGCCTCACAACCTCCGT	0.658		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	55	Substitution - Missense(20)|Deletion - Frameshift(13)|Whole gene deletion(8)|Substitution - coding silent(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	large_intestine(10)|central_nervous_system(8)|lung(7)|haematopoietic_and_lymphoid_tissue(5)|bone(5)|stomach(4)|biliary_tract(3)|oesophagus(3)|upper_aerodigestive_tract(2)|cervix(2)|liver(2)|endometrium(1)|ovary(1)|prostate(1)|breast(1)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001652	inframe_insertion	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.518_519insCGT	17.37:g.7578411_7578412insACG	ENSP00000391127:p.Val173dup	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1																																																																																			TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	In_Frame_Ins	INS	17 : 7578411 - 7578412 ACG PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	312	99
TPO	7173	broad.mit.edu	37	2	1426892	1426892	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:1426892C>T	ENST00000345913.4	+	3	261	c.170C>T	c.(169-171)aCg>aTg	p.T57M	TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.T57M|TPO_ENST00000382198.1_Missense_Mutation_p.T57M|TPO_ENST00000382201.3_Missense_Mutation_p.T57M|TPO_ENST00000337415.3_Missense_Mutation_p.T57M|TPO_ENST00000329066.4_Missense_Mutation_p.T57M|TPO_ENST00000346956.3_Missense_Mutation_p.T57M|TPO_ENST00000539820.1_Missense_Mutation_p.T57M|TPO_ENST00000382269.3_Missense_Mutation_p.T57M	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	57					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATGTACGCCACGATGCAGAGG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	66	69			NA	NA	2		NA											NA				1426892		2203	4300	6503	SO:0001583	missense				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	7173	7173	1.11.1.7		12015	protein-coding gene	gene with protein product		606765			NA		Standard	NM_000547	NM_175722	NA	Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.170C>T	2.37:g.1426892C>T	ENSP00000318820:p.Thr57Met	NA	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	37	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977929	0.53720	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	3.72	3.72	0.42706	.	0.376195	0.25383	N	0.031063	T	0.71837	0.3387	M	0.78801	2.425	0.09310	N	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.997	P;P;D;P;P	0.63703	0.862;0.796;0.917;0.862;0.714	T	0.63391	-0.6648	10	0.87932	D	0	-20.6374	11.2868	0.49226	0.0:1.0:0.0:0.0	.	57;57;57;57;57	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	M	57	ENSP00000371704:T57M;ENSP00000337263:T57M;ENSP00000318820:T57M;ENSP00000263886:T57M;ENSP00000332044:T57M;ENSP00000444840:T57M;ENSP00000329869:T57M;ENSP00000371636:T57M;ENSP00000390994:T57M;ENSP00000371633:T57M	ENSP00000329869:T57M	T	+	2	0	TPO	1405899	0.020000	0.18652	0.004000	0.12327	0.026000	0.11368	1.587000	0.36622	2.347000	0.79759	0.467000	0.42956	ACG	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206594.2		+	ENST00000345913.4	Missense_Mutation	SNP	2 : 1426892 - 1426892 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	231	34
TRPV6	55503	broad.mit.edu	37	7	142574925	142574925	+	Missense_Mutation	SNP	G	G	A	rs148239732		TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:142574925G>A	ENST00000359396.3	-	4	702	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	153					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGACTACGGCGGAAGGCAGTG	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	74	66	69		457	0.9	0.5	7	dbSNP_134	69	0,8600		0,0,4300	no	missense	TRPV6	NM_018646.2	180	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	153/726	142574925	1,13005	2203	4300	6503	SO:0001583	missense			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125	55503	55503		Voltage-gated ion channels / Transient receptor potential cation channels, Ankyrin repeat domain containing	14006	protein-coding gene	gene with protein product		606680	epithelial calcium channel 2	ECAC2	NA	11097838, 11549322, 16382100, 16717058	Standard	NM_014274	NM_018646	NA	Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.457C>T	7.37:g.142574925G>A	ENSP00000352358:p.Arg153Cys	NA	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884573	0.33255	2.27E-4	0.0	ENSG00000165125	ENST00000359396	T	0.53640	0.61	3.86	0.902	0.19290	Ankyrin repeat-containing domain (3);	0.461329	0.22855	N	0.054809	T	0.27933	0.0688	N	0.24115	0.695	0.41057	D	0.985342	B	0.18863	0.031	B	0.21546	0.035	T	0.05716	-1.0868	10	0.46703	T	0.11	-1.2388	3.8826	0.09085	0.3834:0.0:0.4439:0.1726	.	153	Q9H1D0	TRPV6_HUMAN	C	153	ENSP00000352358:R153C	ENSP00000352358:R153C	R	-	1	0	TRPV6	142285047	0.951000	0.32395	0.502000	0.27614	0.877000	0.50540	1.532000	0.36029	0.307000	0.22880	0.655000	0.94253	CGC	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347662.1		-	ENST00000359396.3	Missense_Mutation	SNP	7 : 142574925 - 142574925 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	399	87
TSSK1B	83942	broad.mit.edu	37	5	112770240	112770240	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr5:112770240G>A	ENST00000390666.3	-	1	488	c.297C>T	c.(295-297)ctC>ctT	p.L99L	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	99	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TGATTAACTCGAGGAGGTCGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													61	66	64			NA	NA	5		NA											NA				112770240		2190	4296	6486	SO:0001819	synonymous_variant			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122	83942	83942			14968	protein-coding gene	gene with protein product		610709	serine/threonine kinase 22D (spermiogenesis associated), testis-specific serine kinase 1	STK22D, TSSK1	NA	15044604	Standard	NM_032028	NM_032028	NA	Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.297C>T	5.37:g.112770240G>A		NA	B2R8D9	37	CCDS4112.1																																																																																			TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250774.2		-	ENST00000390666.3	Silent	SNP	5 : 112770240 - 112770240 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	234	10
WNT7A	7476	broad.mit.edu	37	3	13860779	13860779	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr3:13860779C>T	ENST00000285018.4	-	4	1016	c.712G>A	c.(712-714)Gtg>Atg	p.V238M		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	238					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ACAGGCTCCACGTGAACGGCC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	105	107			NA	NA	3		NA											NA				13860779		2203	4300	6503	SO:0001583	missense			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764	7476	7476		Wingless-type MMTV integration sites	12786	protein-coding gene	gene with protein product	proto-oncogene Wnt7a protein	601570			NA	8893824, 9161407	Standard	NM_004625	NM_004625	NA	Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.712G>A	3.37:g.13860779C>T	ENSP00000285018:p.Val238Met	NA	Q96H90|Q9Y560	37	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.255353	0.80135	.	.	ENSG00000154764	ENST00000285018	T	0.80994	-1.44	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.88775	0.6528	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.65010	0.931	D	0.88867	0.3330	10	0.37606	T	0.19	.	16.889	0.86082	0.0:1.0:0.0:0.0	.	238	O00755	WNT7A_HUMAN	M	238	ENSP00000285018:V238M	ENSP00000285018:V238M	V	-	1	0	WNT7A	13835780	1.000000	0.71417	0.986000	0.45419	0.963000	0.63663	7.812000	0.86109	2.048000	0.60808	0.558000	0.71614	GTG	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252031.2		-	ENST00000285018.4	Missense_Mutation	SNP	3 : 13860779 - 13860779 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	493	44
ZNF628	89887	broad.mit.edu	37	19	55993096	55993096	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:55993096G>C	ENST00000598519.1	+	3	1089	c.536G>C	c.(535-537)gGa>gCa	p.G179A	ZNF628_ENST00000391718.2_Missense_Mutation_p.G175A			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	175						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TACACCTGTGGAGTCTGCGGG	0.711		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	23	23			NA	NA	19		NA											NA				55993096		2201	4295	6496	SO:0001583	missense			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483	89887	89887		Zinc fingers, C2H2-type	28054	protein-coding gene	gene with protein product	Zinc finger expressed in Embryonal cells and Certain adult organs	610671			NA		Standard	XM_058964	NM_033113	NA	Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.536G>C	19.37:g.55993096G>C	ENSP00000469591:p.Gly179Ala	NA	Q86X34	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	5.185	0.219611	0.09863	.	.	ENSG00000197483	ENST00000391718	T	0.07114	3.22	3.62	2.54	0.30619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.308416	0.22071	U	0.065039	T	0.06096	0.0158	L	0.31157	0.91	0.09310	N	1	B	0.16603	0.018	B	0.16289	0.015	T	0.38779	-0.9645	10	0.20046	T	0.44	-4.2285	9.8863	0.41264	0.0:0.4083:0.5917:0.0	.	175	Q5EBL2	ZN628_HUMAN	A	175	ENSP00000375598:G175A	ENSP00000375598:G175A	G	+	2	0	ZNF628	60684908	0.003000	0.15002	0.064000	0.19789	0.009000	0.06853	1.406000	0.34646	0.845000	0.35118	0.484000	0.47621	GGA	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317934.2		+	ENST00000598519.1	Missense_Mutation	SNP	19 : 55993096 - 55993096 C PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	150	25
ZNF71	58491	broad.mit.edu	37	19	57133444	57133444	+	Silent	SNP	G	G	A			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr19:57133444G>A	ENST00000328070.6	+	3	1023	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	263						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACCAGCGCACGCACACCGGGG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	54	54			NA	NA	19		NA											NA				57133444		2203	4300	6503	SO:0001819	synonymous_variant			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951	58491	58491		Zinc fingers, C2H2-type	13141	protein-coding gene	gene with protein product		194545	zinc finger protein 71 (Cos26)		NA	1639391	Standard	NM_021216	NM_021216	NA	Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.789G>A	19.37:g.57133444G>A		NA	Q15919|Q9UC09|Q9UQD3	37	CCDS12947.1																																																																																			ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459798.2		+	ENST00000328070.6	Silent	SNP	19 : 57133444 - 57133444 A PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	459	33
ZNF783	100289678	broad.mit.edu	37	7	148979222	148979222	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr7:148979222C>T	ENST00000434415.1	+	6	1592	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	477					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GGCCTTCCGCCGGCCCTCGGA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													14	17	16			NA	NA	7		NA											NA				148979222		2158	4241	6399	SO:0001583	missense			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946	100289678	100289678		Zinc fingers, C2H2-type, -	27222	protein-coding gene	gene with protein product					NA	8619474, 9110174	Standard	NM_001195220	NM_001195220	NA	Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.1429C>T	7.37:g.148979222C>T	ENSP00000410890:p.Arg477Trp	NA		37	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719045	0.48622	.	.	ENSG00000204946	ENST00000434415	T	0.30182	1.54	4.37	3.47	0.39725	.	.	.	.	.	T	0.39253	0.1071	L	0.51422	1.61	0.80722	D	1	.	.	.	.	.	.	T	0.23084	-1.0198	7	0.56958	D	0.05	.	11.4851	0.50348	0.1814:0.8186:0.0:0.0	.	.	.	.	W	477	ENSP00000410890:R477W	ENSP00000410890:R477W	R	+	1	2	ZNF783	148610155	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-0.235000	0.09016	1.170000	0.42753	0.462000	0.41574	CGG	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352715.1		+	ENST00000434415.1	Missense_Mutation	SNP	7 : 148979222 - 148979222 T PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	162	6
ZNF804A	91752	broad.mit.edu	37	2	185802911	185802911	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8636-01A-21D-2396-08	TCGA-HZ-8636-10A-01D-2396-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5e10fd06-7031-4ceb-87ba-968cfd18cea5	4631085a-4eb9-4424-b246-14506cf16dee	g.chr2:185802911G>C	ENST00000302277.6	+	4	3382	c.2788G>C	c.(2788-2790)Gac>Cac	p.D930H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	930						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGAAGCAATTGACAATACCCT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	87	88			NA	NA	2		NA											NA				185802911		2203	4300	6503	SO:0001583	missense			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396	91752	91752			21711	protein-coding gene	gene with protein product		612282		C2orf10	NA	12970790	Standard	NM_194250	NM_194250	NA	Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2788G>C	2.37:g.185802911G>C	ENSP00000303252:p.Asp930His	NA	A7E253|Q6ZN26	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	3.883	-0.025550	0.07589	.	.	ENSG00000170396	ENST00000302277	T	0.06142	3.34	5.57	0.657	0.17850	.	1.003210	0.08031	N	0.993607	T	0.06188	0.0160	L	0.36672	1.1	0.09310	N	1	P	0.34780	0.468	B	0.35971	0.215	T	0.40850	-0.9541	10	0.62326	D	0.03	-0.8515	5.0665	0.14585	0.3841:0.2901:0.3258:0.0	.	930	Q7Z570	Z804A_HUMAN	H	930	ENSP00000303252:D930H	ENSP00000303252:D930H	D	+	1	0	ZNF804A	185511156	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	0.072000	0.14617	0.039000	0.15632	0.591000	0.81541	GAC	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255871.1		+	ENST00000302277.6	Missense_Mutation	SNP	2 : 185802911 - 185802911 C PAAD-TCGA-HZ-8636-Tumor-SM-3MVDJ	521	39
